Incidental Mutation 'R4858:Pkhd1l1'
ID 372259
Institutional Source Beutler Lab
Gene Symbol Pkhd1l1
Ensembl Gene ENSMUSG00000038725
Gene Name polycystic kidney and hepatic disease 1-like 1
Synonyms fibrocystin L, D86 mRNA, PKHDL1
MMRRC Submission 042469-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4858 (G1)
Quality Score 225
Status Validated
Chromosome 15
Chromosomal Location 44320890-44464765 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 44354497 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Valine at position 296 (D296V)
Ref Sequence ENSEMBL: ENSMUSP00000129522 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000038336] [ENSMUST00000166957] [ENSMUST00000209244]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000038336
AA Change: D296V

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000036988
Gene: ENSMUSG00000038725
AA Change: D296V

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
IPT 30 141 9.02e-3 SMART
Pfam:TIG 146 255 1.6e-16 PFAM
IPT 269 362 2.27e-8 SMART
PbH1 398 420 2.98e3 SMART
IPT 1066 1154 5.34e-5 SMART
IPT 1156 1235 1.44e-1 SMART
Pfam:TIG 1240 1322 1.1e-13 PFAM
IPT 1328 1407 7.06e0 SMART
Pfam:TIG 1565 1645 5.1e-11 PFAM
IPT 1657 1743 1.89e-5 SMART
Pfam:TIG 1748 1828 2.1e-10 PFAM
IPT 1829 1910 4.87e-8 SMART
IPT 1914 1997 6.84e-3 SMART
IPT 1998 2085 9.86e-1 SMART
IPT 2089 2176 7.21e-11 SMART
PbH1 2105 2126 1.56e3 SMART
G8 2183 2303 2.37e-59 SMART
PbH1 2484 2506 9.48e3 SMART
PbH1 2507 2529 8.45e2 SMART
PbH1 2565 2587 4.11e3 SMART
PbH1 2664 2686 3.5e3 SMART
PbH1 2732 2755 2.7e3 SMART
Blast:G8 2949 2979 1e-5 BLAST
low complexity region 3014 3025 N/A INTRINSIC
G8 3035 3173 6.5e-57 SMART
PbH1 3292 3314 1.96e3 SMART
PbH1 3354 3376 3.79e1 SMART
PbH1 3415 3437 4.87e2 SMART
PbH1 3470 3492 8.34e3 SMART
PbH1 3493 3514 5.86e3 SMART
low complexity region 3563 3574 N/A INTRINSIC
low complexity region 4076 4103 N/A INTRINSIC
low complexity region 4184 4212 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000166957
AA Change: D296V

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000129522
Gene: ENSMUSG00000038725
AA Change: D296V

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
IPT 30 141 9.02e-3 SMART
Pfam:TIG 146 255 9.4e-18 PFAM
IPT 269 362 2.27e-8 SMART
PbH1 398 420 2.98e3 SMART
IPT 1066 1154 5.34e-5 SMART
IPT 1156 1235 1.44e-1 SMART
Pfam:TIG 1240 1323 3e-13 PFAM
IPT 1328 1407 7.06e0 SMART
Pfam:TIG 1565 1645 3.7e-11 PFAM
IPT 1657 1743 1.89e-5 SMART
Pfam:TIG 1748 1828 9.7e-12 PFAM
IPT 1829 1910 4.87e-8 SMART
IPT 1914 1997 6.84e-3 SMART
IPT 1998 2085 9.86e-1 SMART
IPT 2089 2176 7.21e-11 SMART
PbH1 2105 2126 1.56e3 SMART
G8 2183 2303 2.37e-59 SMART
PbH1 2484 2506 9.48e3 SMART
PbH1 2507 2529 8.45e2 SMART
PbH1 2565 2587 4.11e3 SMART
PbH1 2664 2686 3.5e3 SMART
PbH1 2732 2755 2.7e3 SMART
Blast:G8 2949 2979 1e-5 BLAST
low complexity region 3014 3025 N/A INTRINSIC
G8 3035 3173 6.5e-57 SMART
PbH1 3292 3314 1.96e3 SMART
PbH1 3354 3376 3.79e1 SMART
PbH1 3415 3437 4.87e2 SMART
PbH1 3470 3492 8.34e3 SMART
PbH1 3493 3514 5.86e3 SMART
low complexity region 3563 3574 N/A INTRINSIC
low complexity region 4076 4103 N/A INTRINSIC
low complexity region 4184 4212 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000209244
AA Change: D296V

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
Meta Mutation Damage Score 0.8107 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.2%
  • 10x: 96.0%
  • 20x: 91.5%
Validation Efficiency 94% (103/109)
Allele List at MGI
Other mutations in this stock
Total: 80 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgb T C 10: 10,225,321 (GRCm39) Y1415C probably damaging Het
Adgrf1 T C 17: 43,614,563 (GRCm39) S216P probably damaging Het
Ankrd12 T C 17: 66,338,428 (GRCm39) D197G probably damaging Het
Aoc3 C A 11: 101,222,488 (GRCm39) H198Q probably damaging Het
Aox1 C A 1: 58,143,640 (GRCm39) H1253N probably benign Het
Arg1 T A 10: 24,798,536 (GRCm39) E38V possibly damaging Het
Baz2b T A 2: 59,738,087 (GRCm39) M1741L probably benign Het
Bend4 T C 5: 67,574,915 (GRCm39) E322G probably damaging Het
Brpf1 T C 6: 113,294,639 (GRCm39) V661A possibly damaging Het
C2cd3 A T 7: 100,104,160 (GRCm39) T2058S probably damaging Het
Camk4 T C 18: 33,309,266 (GRCm39) V223A probably damaging Het
Casp1 C T 9: 5,306,742 (GRCm39) R395C probably damaging Het
Ccdc180 T G 4: 45,923,244 (GRCm39) I1066S probably damaging Het
Ccne1 A G 7: 37,798,744 (GRCm39) F292L probably damaging Het
Ccz1 A T 5: 143,949,628 (GRCm39) M100K probably damaging Het
Cep128 T C 12: 91,226,936 (GRCm39) T678A probably benign Het
Cep290 G A 10: 100,330,773 (GRCm39) R151Q probably benign Het
Crip3 A G 17: 46,741,673 (GRCm39) probably benign Het
Ddx60 A G 8: 62,474,348 (GRCm39) M1479V possibly damaging Het
Defb40 T A 8: 19,025,093 (GRCm39) I38F probably benign Het
Dnajb2 C T 1: 75,220,198 (GRCm39) T221I possibly damaging Het
Dpysl3 T C 18: 43,467,079 (GRCm39) I279V probably damaging Het
Echs1 G A 7: 139,692,499 (GRCm39) probably benign Het
Efl1 T A 7: 82,320,835 (GRCm39) N89K probably damaging Het
Extl3 T C 14: 65,313,443 (GRCm39) T580A probably benign Het
Fam171a2 C T 11: 102,330,982 (GRCm39) G193E probably damaging Het
Fam234a A T 17: 26,435,591 (GRCm39) D264E probably benign Het
Fbxw20 A T 9: 109,063,763 (GRCm39) V3D possibly damaging Het
Fig4 G A 10: 41,109,586 (GRCm39) P637L probably benign Het
Fnbp1l G A 3: 122,339,964 (GRCm39) T496I probably benign Het
Fry T C 5: 150,325,108 (GRCm39) V1175A possibly damaging Het
Gm5617 C T 9: 48,406,968 (GRCm39) A34V possibly damaging Het
Gnai1 A T 5: 18,496,596 (GRCm39) V109E probably benign Het
H2-K2 A T 17: 34,216,298 (GRCm39) Y283N probably benign Het
Hectd2 A T 19: 36,582,682 (GRCm39) I471F probably damaging Het
Hsdl2 T C 4: 59,612,812 (GRCm39) probably null Het
Igkv3-1 T C 6: 70,681,028 (GRCm39) S76P probably damaging Het
Krt15 A T 11: 100,022,897 (GRCm39) S439R probably benign Het
Lama2 TTTGCGCATT TTT 10: 26,919,639 (GRCm39) probably null Het
Lima1 G A 15: 99,717,457 (GRCm39) T23I probably benign Het
Map4k1 C A 7: 28,688,195 (GRCm39) H248Q probably damaging Het
Mcf2l C A 8: 13,063,972 (GRCm39) T1004K probably damaging Het
Meak7 T G 8: 120,499,262 (GRCm39) T77P probably benign Het
Micall1 T A 15: 79,007,146 (GRCm39) probably benign Het
Ms4a14 A G 19: 11,278,976 (GRCm39) I1194T probably benign Het
Mtor T C 4: 148,539,273 (GRCm39) *257Q probably null Het
Mucl3 G A 17: 35,948,468 (GRCm39) T377I possibly damaging Het
Ncan T A 8: 70,556,705 (GRCm39) T961S probably benign Het
Odad4 A G 11: 100,441,147 (GRCm39) N126S probably damaging Het
Or10z1 A T 1: 174,078,262 (GRCm39) I77N probably damaging Het
Or1e29 T A 11: 73,667,372 (GRCm39) L260F probably benign Het
Or1f19 T C 16: 3,410,706 (GRCm39) S149P probably damaging Het
Or2t49 T A 11: 58,392,735 (GRCm39) I216F probably damaging Het
Or8h10 T G 2: 86,808,693 (GRCm39) Y149S probably damaging Het
Or9e1 T A 11: 58,732,033 (GRCm39) L31H possibly damaging Het
Pcdhgb2 A G 18: 37,825,153 (GRCm39) R715G probably benign Het
Pik3c3 T C 18: 30,477,131 (GRCm39) probably null Het
Plekhh2 A G 17: 84,908,125 (GRCm39) I1189V probably damaging Het
Psg18 A T 7: 18,087,409 (GRCm39) L83Q possibly damaging Het
Rps6kc1 A G 1: 190,532,515 (GRCm39) W496R probably damaging Het
Setd5 C T 6: 113,126,527 (GRCm39) T1188I probably damaging Het
Slc4a3 T C 1: 75,531,729 (GRCm39) F899L probably damaging Het
Slitrk6 T C 14: 110,989,315 (GRCm39) T131A probably damaging Het
Speg G T 1: 75,398,379 (GRCm39) R1942L probably damaging Het
Sulf2 C A 2: 165,923,524 (GRCm39) R565L probably benign Het
Tcerg1 T C 18: 42,657,046 (GRCm39) M176T unknown Het
Tfcp2l1 T C 1: 118,597,239 (GRCm39) I440T possibly damaging Het
Tgm7 A T 2: 120,929,445 (GRCm39) probably null Het
Tjp2 C A 19: 24,099,484 (GRCm39) G433V probably damaging Het
Tmc7 C T 7: 118,142,565 (GRCm39) G608R probably damaging Het
Tmed4 A G 11: 6,224,456 (GRCm39) F68S possibly damaging Het
Tmem30b G A 12: 73,592,686 (GRCm39) P143L probably damaging Het
Tnfrsf23 C T 7: 143,235,217 (GRCm39) C49Y probably damaging Het
Tnni3k A T 3: 154,492,445 (GRCm39) probably null Het
Trav12-2 G T 14: 53,854,150 (GRCm39) M41I probably benign Het
Trim6 T A 7: 103,881,692 (GRCm39) Y314* probably null Het
Utp25 A G 1: 192,796,072 (GRCm39) Y686H probably damaging Het
Vmn2r118 A G 17: 55,899,894 (GRCm39) V670A probably damaging Het
Zfp438 A T 18: 5,213,154 (GRCm39) D601E probably benign Het
Zfp606 T A 7: 12,226,983 (GRCm39) I310N possibly damaging Het
Other mutations in Pkhd1l1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00233:Pkhd1l1 APN 15 44,340,982 (GRCm39) missense probably damaging 1.00
IGL00235:Pkhd1l1 APN 15 44,419,415 (GRCm39) missense probably damaging 1.00
IGL00264:Pkhd1l1 APN 15 44,354,425 (GRCm39) missense possibly damaging 0.67
IGL00537:Pkhd1l1 APN 15 44,455,388 (GRCm39) missense possibly damaging 0.88
IGL00537:Pkhd1l1 APN 15 44,363,443 (GRCm39) missense probably benign 0.42
IGL00580:Pkhd1l1 APN 15 44,449,870 (GRCm39) missense probably damaging 0.98
IGL01085:Pkhd1l1 APN 15 44,426,148 (GRCm39) splice site probably null
IGL01089:Pkhd1l1 APN 15 44,347,265 (GRCm39) splice site probably benign
IGL01094:Pkhd1l1 APN 15 44,410,325 (GRCm39) missense probably benign 0.09
IGL01120:Pkhd1l1 APN 15 44,368,708 (GRCm39) critical splice donor site probably null
IGL01307:Pkhd1l1 APN 15 44,393,425 (GRCm39) missense possibly damaging 0.82
IGL01362:Pkhd1l1 APN 15 44,396,378 (GRCm39) missense probably benign 0.00
IGL01403:Pkhd1l1 APN 15 44,347,229 (GRCm39) nonsense probably null
IGL01546:Pkhd1l1 APN 15 44,429,712 (GRCm39) missense probably damaging 1.00
IGL01596:Pkhd1l1 APN 15 44,392,806 (GRCm39) missense possibly damaging 0.50
IGL01696:Pkhd1l1 APN 15 44,392,747 (GRCm39) missense possibly damaging 0.79
IGL01844:Pkhd1l1 APN 15 44,362,796 (GRCm39) splice site probably benign
IGL02007:Pkhd1l1 APN 15 44,397,129 (GRCm39) splice site probably benign
IGL02041:Pkhd1l1 APN 15 44,356,452 (GRCm39) splice site probably null
IGL02171:Pkhd1l1 APN 15 44,379,542 (GRCm39) missense possibly damaging 0.80
IGL02206:Pkhd1l1 APN 15 44,376,245 (GRCm39) missense probably benign 0.08
IGL02266:Pkhd1l1 APN 15 44,437,010 (GRCm39) missense probably damaging 1.00
IGL02487:Pkhd1l1 APN 15 44,322,822 (GRCm39) missense possibly damaging 0.65
IGL02488:Pkhd1l1 APN 15 44,421,993 (GRCm39) missense probably benign
IGL02522:Pkhd1l1 APN 15 44,419,298 (GRCm39) missense possibly damaging 0.71
IGL02554:Pkhd1l1 APN 15 44,441,896 (GRCm39) missense probably damaging 1.00
IGL02566:Pkhd1l1 APN 15 44,389,450 (GRCm39) splice site probably null
IGL02602:Pkhd1l1 APN 15 44,421,327 (GRCm39) missense probably damaging 1.00
IGL02606:Pkhd1l1 APN 15 44,452,852 (GRCm39) missense probably benign 0.00
IGL02623:Pkhd1l1 APN 15 44,448,269 (GRCm39) missense probably damaging 1.00
IGL02634:Pkhd1l1 APN 15 44,403,063 (GRCm39) missense probably damaging 1.00
IGL02637:Pkhd1l1 APN 15 44,427,720 (GRCm39) missense probably damaging 1.00
IGL02651:Pkhd1l1 APN 15 44,347,210 (GRCm39) missense probably damaging 1.00
IGL02679:Pkhd1l1 APN 15 44,393,441 (GRCm39) critical splice donor site probably null
IGL02684:Pkhd1l1 APN 15 44,379,605 (GRCm39) critical splice donor site probably null
IGL02739:Pkhd1l1 APN 15 44,404,346 (GRCm39) missense probably benign 0.11
IGL02831:Pkhd1l1 APN 15 44,364,889 (GRCm39) missense probably benign 0.18
IGL02839:Pkhd1l1 APN 15 44,392,939 (GRCm39) missense probably damaging 0.98
IGL02944:Pkhd1l1 APN 15 44,364,927 (GRCm39) missense probably damaging 1.00
IGL02957:Pkhd1l1 APN 15 44,376,304 (GRCm39) missense probably damaging 1.00
IGL03001:Pkhd1l1 APN 15 44,421,400 (GRCm39) missense probably damaging 1.00
IGL03030:Pkhd1l1 APN 15 44,460,298 (GRCm39) missense probably benign 0.41
IGL03030:Pkhd1l1 APN 15 44,455,372 (GRCm39) missense probably benign 0.00
IGL03132:Pkhd1l1 APN 15 44,438,013 (GRCm39) missense probably damaging 1.00
IGL03194:Pkhd1l1 APN 15 44,381,531 (GRCm39) missense probably damaging 1.00
IGL03219:Pkhd1l1 APN 15 44,460,291 (GRCm39) missense possibly damaging 0.62
IGL03236:Pkhd1l1 APN 15 44,445,222 (GRCm39) missense probably damaging 1.00
IGL03266:Pkhd1l1 APN 15 44,402,348 (GRCm39) missense probably damaging 1.00
IGL03276:Pkhd1l1 APN 15 44,457,980 (GRCm39) missense possibly damaging 0.77
IGL03284:Pkhd1l1 APN 15 44,410,914 (GRCm39) splice site probably benign
IGL03377:Pkhd1l1 APN 15 44,347,747 (GRCm39) splice site probably null
R0310_Pkhd1l1_251 UTSW 15 44,386,134 (GRCm39) splice site probably benign
R0344_Pkhd1l1_462 UTSW 15 44,460,407 (GRCm39) missense probably benign 0.15
R1737_Pkhd1l1_815 UTSW 15 44,410,905 (GRCm39) critical splice donor site probably null
R5049_Pkhd1l1_556 UTSW 15 44,321,012 (GRCm39) missense probably benign 0.00
K7371:Pkhd1l1 UTSW 15 44,363,463 (GRCm39) missense possibly damaging 0.94
K7371:Pkhd1l1 UTSW 15 44,400,838 (GRCm39) missense possibly damaging 0.67
N/A - 287:Pkhd1l1 UTSW 15 44,445,654 (GRCm39) missense probably damaging 0.98
P4717OSA:Pkhd1l1 UTSW 15 44,391,643 (GRCm39) missense probably damaging 1.00
P4717OSA:Pkhd1l1 UTSW 15 44,386,895 (GRCm39) missense probably benign 0.17
R0007:Pkhd1l1 UTSW 15 44,437,794 (GRCm39) splice site probably benign
R0020:Pkhd1l1 UTSW 15 44,420,268 (GRCm39) missense probably damaging 1.00
R0034:Pkhd1l1 UTSW 15 44,367,405 (GRCm39) missense probably benign 0.00
R0040:Pkhd1l1 UTSW 15 44,437,021 (GRCm39) missense probably damaging 1.00
R0050:Pkhd1l1 UTSW 15 44,437,203 (GRCm39) missense possibly damaging 0.79
R0050:Pkhd1l1 UTSW 15 44,437,203 (GRCm39) missense possibly damaging 0.79
R0063:Pkhd1l1 UTSW 15 44,392,633 (GRCm39) missense probably damaging 1.00
R0063:Pkhd1l1 UTSW 15 44,392,633 (GRCm39) missense probably damaging 1.00
R0086:Pkhd1l1 UTSW 15 44,419,404 (GRCm39) missense possibly damaging 0.94
R0103:Pkhd1l1 UTSW 15 44,460,537 (GRCm39) missense probably benign
R0103:Pkhd1l1 UTSW 15 44,460,537 (GRCm39) missense probably benign
R0127:Pkhd1l1 UTSW 15 44,418,001 (GRCm39) missense probably damaging 0.99
R0226:Pkhd1l1 UTSW 15 44,390,180 (GRCm39) missense possibly damaging 0.65
R0268:Pkhd1l1 UTSW 15 44,460,407 (GRCm39) missense probably benign 0.15
R0294:Pkhd1l1 UTSW 15 44,423,831 (GRCm39) missense probably benign 0.05
R0310:Pkhd1l1 UTSW 15 44,386,134 (GRCm39) splice site probably benign
R0344:Pkhd1l1 UTSW 15 44,460,407 (GRCm39) missense probably benign 0.15
R0449:Pkhd1l1 UTSW 15 44,364,915 (GRCm39) missense probably damaging 1.00
R0492:Pkhd1l1 UTSW 15 44,383,086 (GRCm39) missense probably benign 0.03
R0505:Pkhd1l1 UTSW 15 44,452,814 (GRCm39) missense probably damaging 1.00
R0529:Pkhd1l1 UTSW 15 44,390,150 (GRCm39) missense possibly damaging 0.62
R0543:Pkhd1l1 UTSW 15 44,386,887 (GRCm39) critical splice acceptor site probably null
R0552:Pkhd1l1 UTSW 15 44,352,942 (GRCm39) missense probably damaging 0.98
R0558:Pkhd1l1 UTSW 15 44,347,820 (GRCm39) missense probably damaging 0.97
R0609:Pkhd1l1 UTSW 15 44,330,820 (GRCm39) missense possibly damaging 0.48
R0619:Pkhd1l1 UTSW 15 44,347,234 (GRCm39) missense probably damaging 1.00
R0727:Pkhd1l1 UTSW 15 44,399,184 (GRCm39) missense possibly damaging 0.80
R0787:Pkhd1l1 UTSW 15 44,392,660 (GRCm39) missense probably damaging 1.00
R0846:Pkhd1l1 UTSW 15 44,358,993 (GRCm39) missense probably damaging 1.00
R0909:Pkhd1l1 UTSW 15 44,402,279 (GRCm39) splice site probably null
R0942:Pkhd1l1 UTSW 15 44,396,355 (GRCm39) missense probably benign 0.01
R1056:Pkhd1l1 UTSW 15 44,455,360 (GRCm39) missense probably damaging 1.00
R1147:Pkhd1l1 UTSW 15 44,400,837 (GRCm39) missense probably null 0.15
R1147:Pkhd1l1 UTSW 15 44,400,837 (GRCm39) missense probably null 0.15
R1187:Pkhd1l1 UTSW 15 44,361,447 (GRCm39) missense possibly damaging 0.65
R1328:Pkhd1l1 UTSW 15 44,361,392 (GRCm39) missense probably benign 0.01
R1331:Pkhd1l1 UTSW 15 44,452,993 (GRCm39) missense probably damaging 1.00
R1331:Pkhd1l1 UTSW 15 44,368,943 (GRCm39) missense probably damaging 1.00
R1332:Pkhd1l1 UTSW 15 44,368,943 (GRCm39) missense probably damaging 1.00
R1335:Pkhd1l1 UTSW 15 44,368,943 (GRCm39) missense probably damaging 1.00
R1338:Pkhd1l1 UTSW 15 44,390,120 (GRCm39) missense probably damaging 1.00
R1440:Pkhd1l1 UTSW 15 44,404,384 (GRCm39) splice site probably benign
R1445:Pkhd1l1 UTSW 15 44,369,040 (GRCm39) missense probably benign 0.32
R1458:Pkhd1l1 UTSW 15 44,379,511 (GRCm39) missense probably benign 0.01
R1469:Pkhd1l1 UTSW 15 44,400,282 (GRCm39) missense probably benign 0.45
R1469:Pkhd1l1 UTSW 15 44,400,282 (GRCm39) missense probably benign 0.45
R1500:Pkhd1l1 UTSW 15 44,408,890 (GRCm39) missense probably damaging 1.00
R1528:Pkhd1l1 UTSW 15 44,390,120 (GRCm39) missense probably damaging 1.00
R1542:Pkhd1l1 UTSW 15 44,391,587 (GRCm39) missense probably benign 0.44
R1568:Pkhd1l1 UTSW 15 44,408,897 (GRCm39) splice site probably null
R1571:Pkhd1l1 UTSW 15 44,390,237 (GRCm39) missense probably benign
R1572:Pkhd1l1 UTSW 15 44,406,869 (GRCm39) missense probably benign 0.01
R1604:Pkhd1l1 UTSW 15 44,330,763 (GRCm39) nonsense probably null
R1638:Pkhd1l1 UTSW 15 44,460,513 (GRCm39) missense probably benign 0.06
R1639:Pkhd1l1 UTSW 15 44,404,351 (GRCm39) missense probably damaging 0.99
R1737:Pkhd1l1 UTSW 15 44,410,905 (GRCm39) critical splice donor site probably null
R1816:Pkhd1l1 UTSW 15 44,391,635 (GRCm39) missense possibly damaging 0.91
R1826:Pkhd1l1 UTSW 15 44,366,741 (GRCm39) missense possibly damaging 0.75
R1880:Pkhd1l1 UTSW 15 44,388,638 (GRCm39) missense probably benign 0.13
R1930:Pkhd1l1 UTSW 15 44,366,733 (GRCm39) missense possibly damaging 0.69
R1933:Pkhd1l1 UTSW 15 44,404,280 (GRCm39) missense possibly damaging 0.48
R1938:Pkhd1l1 UTSW 15 44,363,434 (GRCm39) missense probably benign
R1975:Pkhd1l1 UTSW 15 44,393,109 (GRCm39) missense probably damaging 1.00
R1999:Pkhd1l1 UTSW 15 44,363,378 (GRCm39) splice site probably null
R2037:Pkhd1l1 UTSW 15 44,431,617 (GRCm39) splice site probably null
R2045:Pkhd1l1 UTSW 15 44,343,050 (GRCm39) missense probably damaging 1.00
R2049:Pkhd1l1 UTSW 15 44,445,137 (GRCm39) missense probably damaging 1.00
R2049:Pkhd1l1 UTSW 15 44,410,909 (GRCm39) splice site probably benign
R2063:Pkhd1l1 UTSW 15 44,414,148 (GRCm39) missense possibly damaging 0.69
R2072:Pkhd1l1 UTSW 15 44,422,035 (GRCm39) missense probably damaging 1.00
R2073:Pkhd1l1 UTSW 15 44,422,035 (GRCm39) missense probably damaging 1.00
R2075:Pkhd1l1 UTSW 15 44,422,035 (GRCm39) missense probably damaging 1.00
R2078:Pkhd1l1 UTSW 15 44,391,163 (GRCm39) missense probably benign 0.08
R2116:Pkhd1l1 UTSW 15 44,432,878 (GRCm39) missense probably damaging 0.97
R2133:Pkhd1l1 UTSW 15 44,379,581 (GRCm39) missense possibly damaging 0.91
R2138:Pkhd1l1 UTSW 15 44,364,853 (GRCm39) missense probably damaging 1.00
R2139:Pkhd1l1 UTSW 15 44,393,214 (GRCm39) missense possibly damaging 0.46
R2145:Pkhd1l1 UTSW 15 44,376,273 (GRCm39) splice site probably null
R2150:Pkhd1l1 UTSW 15 44,363,378 (GRCm39) splice site probably null
R2177:Pkhd1l1 UTSW 15 44,322,791 (GRCm39) missense probably benign
R2184:Pkhd1l1 UTSW 15 44,362,692 (GRCm39) missense possibly damaging 0.89
R2216:Pkhd1l1 UTSW 15 44,437,291 (GRCm39) missense probably damaging 1.00
R2226:Pkhd1l1 UTSW 15 44,376,188 (GRCm39) missense possibly damaging 0.79
R2227:Pkhd1l1 UTSW 15 44,376,188 (GRCm39) missense possibly damaging 0.79
R2243:Pkhd1l1 UTSW 15 44,410,323 (GRCm39) missense probably damaging 1.00
R2290:Pkhd1l1 UTSW 15 44,391,646 (GRCm39) missense probably benign 0.03
R2294:Pkhd1l1 UTSW 15 44,343,003 (GRCm39) missense probably damaging 0.99
R2346:Pkhd1l1 UTSW 15 44,423,902 (GRCm39) missense possibly damaging 0.82
R2356:Pkhd1l1 UTSW 15 44,396,415 (GRCm39) missense probably benign 0.00
R2386:Pkhd1l1 UTSW 15 44,391,574 (GRCm39) missense probably benign 0.00
R2404:Pkhd1l1 UTSW 15 44,414,216 (GRCm39) missense probably damaging 1.00
R2504:Pkhd1l1 UTSW 15 44,348,824 (GRCm39) missense probably damaging 0.97
R2679:Pkhd1l1 UTSW 15 44,408,782 (GRCm39) missense probably damaging 0.99
R2860:Pkhd1l1 UTSW 15 44,404,267 (GRCm39) missense probably damaging 1.00
R2861:Pkhd1l1 UTSW 15 44,404,267 (GRCm39) missense probably damaging 1.00
R2862:Pkhd1l1 UTSW 15 44,404,267 (GRCm39) missense probably damaging 1.00
R2972:Pkhd1l1 UTSW 15 44,410,644 (GRCm39) missense possibly damaging 0.65
R3016:Pkhd1l1 UTSW 15 44,408,766 (GRCm39) missense probably benign 0.02
R3162:Pkhd1l1 UTSW 15 44,368,924 (GRCm39) missense probably damaging 1.00
R3162:Pkhd1l1 UTSW 15 44,368,924 (GRCm39) missense probably damaging 1.00
R3416:Pkhd1l1 UTSW 15 44,410,760 (GRCm39) missense probably damaging 1.00
R3623:Pkhd1l1 UTSW 15 44,390,265 (GRCm39) missense probably damaging 1.00
R3687:Pkhd1l1 UTSW 15 44,409,983 (GRCm39) missense probably benign 0.17
R3755:Pkhd1l1 UTSW 15 44,452,802 (GRCm39) missense probably damaging 1.00
R3776:Pkhd1l1 UTSW 15 44,378,371 (GRCm39) critical splice donor site probably null
R3803:Pkhd1l1 UTSW 15 44,356,531 (GRCm39) missense probably benign 0.25
R3942:Pkhd1l1 UTSW 15 44,455,422 (GRCm39) critical splice donor site probably null
R4010:Pkhd1l1 UTSW 15 44,392,496 (GRCm39) missense possibly damaging 0.80
R4049:Pkhd1l1 UTSW 15 44,361,953 (GRCm39) missense probably damaging 1.00
R4059:Pkhd1l1 UTSW 15 44,414,156 (GRCm39) missense probably benign 0.01
R4179:Pkhd1l1 UTSW 15 44,387,045 (GRCm39) missense probably benign 0.45
R4184:Pkhd1l1 UTSW 15 44,455,302 (GRCm39) missense probably benign 0.00
R4369:Pkhd1l1 UTSW 15 44,368,949 (GRCm39) missense probably benign 0.00
R4462:Pkhd1l1 UTSW 15 44,445,200 (GRCm39) missense probably damaging 1.00
R4551:Pkhd1l1 UTSW 15 44,414,281 (GRCm39) missense probably damaging 1.00
R4618:Pkhd1l1 UTSW 15 44,403,078 (GRCm39) missense probably damaging 1.00
R4632:Pkhd1l1 UTSW 15 44,347,796 (GRCm39) missense probably benign 0.07
R4657:Pkhd1l1 UTSW 15 44,410,743 (GRCm39) missense probably damaging 1.00
R4716:Pkhd1l1 UTSW 15 44,419,428 (GRCm39) missense probably damaging 1.00
R4788:Pkhd1l1 UTSW 15 44,361,417 (GRCm39) missense probably damaging 0.99
R4828:Pkhd1l1 UTSW 15 44,392,801 (GRCm39) missense possibly damaging 0.55
R4860:Pkhd1l1 UTSW 15 44,400,774 (GRCm39) missense possibly damaging 0.77
R4860:Pkhd1l1 UTSW 15 44,400,774 (GRCm39) missense possibly damaging 0.77
R4951:Pkhd1l1 UTSW 15 44,397,287 (GRCm39) missense possibly damaging 0.82
R4963:Pkhd1l1 UTSW 15 44,367,421 (GRCm39) missense probably benign 0.00
R5023:Pkhd1l1 UTSW 15 44,391,587 (GRCm39) missense probably benign 0.44
R5023:Pkhd1l1 UTSW 15 44,445,623 (GRCm39) missense probably benign 0.00
R5035:Pkhd1l1 UTSW 15 44,431,720 (GRCm39) missense probably damaging 1.00
R5049:Pkhd1l1 UTSW 15 44,321,012 (GRCm39) missense probably benign 0.00
R5065:Pkhd1l1 UTSW 15 44,445,689 (GRCm39) missense possibly damaging 0.68
R5089:Pkhd1l1 UTSW 15 44,455,283 (GRCm39) missense probably benign 0.01
R5151:Pkhd1l1 UTSW 15 44,368,705 (GRCm39) missense probably benign 0.00
R5153:Pkhd1l1 UTSW 15 44,368,705 (GRCm39) missense probably benign 0.00
R5189:Pkhd1l1 UTSW 15 44,410,544 (GRCm39) missense probably damaging 1.00
R5204:Pkhd1l1 UTSW 15 44,410,437 (GRCm39) missense possibly damaging 0.51
R5216:Pkhd1l1 UTSW 15 44,359,043 (GRCm39) nonsense probably null
R5286:Pkhd1l1 UTSW 15 44,378,368 (GRCm39) nonsense probably null
R5292:Pkhd1l1 UTSW 15 44,392,962 (GRCm39) missense probably damaging 1.00
R5293:Pkhd1l1 UTSW 15 44,399,146 (GRCm39) missense probably benign 0.01
R5298:Pkhd1l1 UTSW 15 44,367,442 (GRCm39) missense probably benign 0.00
R5327:Pkhd1l1 UTSW 15 44,410,258 (GRCm39) missense probably damaging 1.00
R5346:Pkhd1l1 UTSW 15 44,404,363 (GRCm39) missense probably damaging 1.00
R5481:Pkhd1l1 UTSW 15 44,422,042 (GRCm39) missense probably damaging 1.00
R5645:Pkhd1l1 UTSW 15 44,396,388 (GRCm39) missense probably benign 0.18
R5718:Pkhd1l1 UTSW 15 44,408,813 (GRCm39) missense probably damaging 1.00
R5809:Pkhd1l1 UTSW 15 44,383,103 (GRCm39) missense probably benign 0.03
R5816:Pkhd1l1 UTSW 15 44,429,718 (GRCm39) missense probably benign 0.01
R5854:Pkhd1l1 UTSW 15 44,445,186 (GRCm39) missense probably damaging 1.00
R5876:Pkhd1l1 UTSW 15 44,441,984 (GRCm39) missense possibly damaging 0.51
R5909:Pkhd1l1 UTSW 15 44,390,159 (GRCm39) missense probably damaging 1.00
R5950:Pkhd1l1 UTSW 15 44,396,361 (GRCm39) missense probably benign 0.00
R5961:Pkhd1l1 UTSW 15 44,322,859 (GRCm39) missense probably damaging 1.00
R5972:Pkhd1l1 UTSW 15 44,408,812 (GRCm39) missense probably damaging 1.00
R5975:Pkhd1l1 UTSW 15 44,389,384 (GRCm39) missense probably damaging 1.00
R5982:Pkhd1l1 UTSW 15 44,352,900 (GRCm39) splice site probably null
R6066:Pkhd1l1 UTSW 15 44,391,525 (GRCm39) missense probably damaging 0.99
R6122:Pkhd1l1 UTSW 15 44,421,336 (GRCm39) missense probably damaging 1.00
R6248:Pkhd1l1 UTSW 15 44,392,955 (GRCm39) missense probably benign
R6294:Pkhd1l1 UTSW 15 44,433,424 (GRCm39) missense probably damaging 1.00
R6301:Pkhd1l1 UTSW 15 44,452,921 (GRCm39) missense probably damaging 0.99
R6526:Pkhd1l1 UTSW 15 44,361,485 (GRCm39) critical splice donor site probably null
R6707:Pkhd1l1 UTSW 15 44,392,539 (GRCm39) missense probably benign
R6736:Pkhd1l1 UTSW 15 44,421,336 (GRCm39) missense probably damaging 1.00
R6753:Pkhd1l1 UTSW 15 44,453,059 (GRCm39) missense probably benign 0.45
R6815:Pkhd1l1 UTSW 15 44,426,051 (GRCm39) missense probably damaging 1.00
R6874:Pkhd1l1 UTSW 15 44,452,923 (GRCm39) missense probably benign 0.06
R6942:Pkhd1l1 UTSW 15 44,386,025 (GRCm39) missense probably damaging 1.00
R6970:Pkhd1l1 UTSW 15 44,375,070 (GRCm39) missense possibly damaging 0.61
R6982:Pkhd1l1 UTSW 15 44,429,664 (GRCm39) missense probably damaging 0.97
R7103:Pkhd1l1 UTSW 15 44,437,027 (GRCm39) missense probably benign 0.02
R7116:Pkhd1l1 UTSW 15 44,421,372 (GRCm39) missense probably benign 0.00
R7135:Pkhd1l1 UTSW 15 44,448,374 (GRCm39) critical splice donor site probably null
R7143:Pkhd1l1 UTSW 15 44,437,033 (GRCm39) missense possibly damaging 0.93
R7177:Pkhd1l1 UTSW 15 44,330,800 (GRCm39) missense probably damaging 1.00
R7194:Pkhd1l1 UTSW 15 44,392,512 (GRCm39) missense probably damaging 1.00
R7204:Pkhd1l1 UTSW 15 44,386,949 (GRCm39) missense possibly damaging 0.90
R7215:Pkhd1l1 UTSW 15 44,391,559 (GRCm39) missense possibly damaging 0.78
R7218:Pkhd1l1 UTSW 15 44,386,091 (GRCm39) missense possibly damaging 0.49
R7225:Pkhd1l1 UTSW 15 44,410,337 (GRCm39) missense probably damaging 1.00
R7283:Pkhd1l1 UTSW 15 44,366,676 (GRCm39) missense probably benign 0.10
R7292:Pkhd1l1 UTSW 15 44,361,986 (GRCm39) missense probably benign
R7304:Pkhd1l1 UTSW 15 44,361,878 (GRCm39) missense possibly damaging 0.94
R7349:Pkhd1l1 UTSW 15 44,378,350 (GRCm39) missense probably damaging 1.00
R7359:Pkhd1l1 UTSW 15 44,452,882 (GRCm39) missense probably damaging 1.00
R7407:Pkhd1l1 UTSW 15 44,458,407 (GRCm39) missense possibly damaging 0.75
R7475:Pkhd1l1 UTSW 15 44,368,581 (GRCm39) nonsense probably null
R7481:Pkhd1l1 UTSW 15 44,376,307 (GRCm39) missense probably benign
R7554:Pkhd1l1 UTSW 15 44,358,866 (GRCm39) missense probably damaging 1.00
R7555:Pkhd1l1 UTSW 15 44,414,157 (GRCm39) missense possibly damaging 0.51
R7562:Pkhd1l1 UTSW 15 44,378,326 (GRCm39) missense possibly damaging 0.68
R7583:Pkhd1l1 UTSW 15 44,431,760 (GRCm39) critical splice donor site probably null
R7595:Pkhd1l1 UTSW 15 44,358,917 (GRCm39) missense probably damaging 1.00
R7749:Pkhd1l1 UTSW 15 44,391,133 (GRCm39) missense probably benign 0.00
R7754:Pkhd1l1 UTSW 15 44,449,804 (GRCm39) missense possibly damaging 0.94
R7761:Pkhd1l1 UTSW 15 44,393,280 (GRCm39) missense probably benign 0.00
R7774:Pkhd1l1 UTSW 15 44,404,303 (GRCm39) missense probably benign 0.03
R7785:Pkhd1l1 UTSW 15 44,406,965 (GRCm39) missense probably damaging 1.00
R7790:Pkhd1l1 UTSW 15 44,441,977 (GRCm39) missense probably damaging 1.00
R7804:Pkhd1l1 UTSW 15 44,460,534 (GRCm39) nonsense probably null
R7864:Pkhd1l1 UTSW 15 44,389,449 (GRCm39) critical splice donor site probably null
R7883:Pkhd1l1 UTSW 15 44,392,522 (GRCm39) missense probably damaging 1.00
R8031:Pkhd1l1 UTSW 15 44,376,230 (GRCm39) missense probably damaging 1.00
R8128:Pkhd1l1 UTSW 15 44,361,449 (GRCm39) missense possibly damaging 0.94
R8142:Pkhd1l1 UTSW 15 44,378,327 (GRCm39) missense probably benign 0.00
R8150:Pkhd1l1 UTSW 15 44,410,055 (GRCm39) missense possibly damaging 0.68
R8209:Pkhd1l1 UTSW 15 44,437,803 (GRCm39) missense possibly damaging 0.46
R8212:Pkhd1l1 UTSW 15 44,362,696 (GRCm39) missense probably benign 0.12
R8226:Pkhd1l1 UTSW 15 44,437,803 (GRCm39) missense possibly damaging 0.46
R8248:Pkhd1l1 UTSW 15 44,406,942 (GRCm39) missense probably damaging 0.99
R8299:Pkhd1l1 UTSW 15 44,445,330 (GRCm39) missense probably benign 0.26
R8425:Pkhd1l1 UTSW 15 44,437,911 (GRCm39) missense probably benign 0.01
R8485:Pkhd1l1 UTSW 15 44,423,796 (GRCm39) missense probably damaging 0.98
R8486:Pkhd1l1 UTSW 15 44,410,812 (GRCm39) missense probably damaging 1.00
R8701:Pkhd1l1 UTSW 15 44,438,079 (GRCm39) missense probably damaging 1.00
R8709:Pkhd1l1 UTSW 15 44,381,570 (GRCm39) missense probably benign 0.01
R8777:Pkhd1l1 UTSW 15 44,361,967 (GRCm39) missense probably damaging 1.00
R8777-TAIL:Pkhd1l1 UTSW 15 44,361,967 (GRCm39) missense probably damaging 1.00
R8845:Pkhd1l1 UTSW 15 44,368,650 (GRCm39) missense probably benign 0.30
R8846:Pkhd1l1 UTSW 15 44,410,358 (GRCm39) nonsense probably null
R8863:Pkhd1l1 UTSW 15 44,433,382 (GRCm39) nonsense probably null
R8917:Pkhd1l1 UTSW 15 44,396,403 (GRCm39) missense probably benign 0.04
R8936:Pkhd1l1 UTSW 15 44,402,312 (GRCm39) missense possibly damaging 0.94
R8962:Pkhd1l1 UTSW 15 44,400,291 (GRCm39) missense probably damaging 1.00
R8971:Pkhd1l1 UTSW 15 44,392,915 (GRCm39) missense possibly damaging 0.68
R8973:Pkhd1l1 UTSW 15 44,449,833 (GRCm39) missense probably damaging 1.00
R8982:Pkhd1l1 UTSW 15 44,387,069 (GRCm39) nonsense probably null
R8994:Pkhd1l1 UTSW 15 44,410,499 (GRCm39) missense probably damaging 0.99
R9004:Pkhd1l1 UTSW 15 44,406,768 (GRCm39) missense probably benign 0.16
R9064:Pkhd1l1 UTSW 15 44,426,038 (GRCm39) missense possibly damaging 0.93
R9173:Pkhd1l1 UTSW 15 44,384,152 (GRCm39) missense probably benign 0.09
R9185:Pkhd1l1 UTSW 15 44,453,019 (GRCm39) missense probably benign 0.01
R9213:Pkhd1l1 UTSW 15 44,358,874 (GRCm39) missense probably damaging 1.00
R9218:Pkhd1l1 UTSW 15 44,384,122 (GRCm39) missense possibly damaging 0.90
R9256:Pkhd1l1 UTSW 15 44,397,290 (GRCm39) critical splice donor site probably null
R9291:Pkhd1l1 UTSW 15 44,433,372 (GRCm39) missense probably damaging 1.00
R9309:Pkhd1l1 UTSW 15 44,400,289 (GRCm39) missense probably benign 0.00
R9319:Pkhd1l1 UTSW 15 44,392,974 (GRCm39) missense possibly damaging 0.46
R9339:Pkhd1l1 UTSW 15 44,452,949 (GRCm39) missense probably damaging 1.00
R9366:Pkhd1l1 UTSW 15 44,410,308 (GRCm39) missense probably benign 0.03
R9444:Pkhd1l1 UTSW 15 44,418,053 (GRCm39) missense probably benign 0.00
R9464:Pkhd1l1 UTSW 15 44,343,009 (GRCm39) missense probably damaging 1.00
R9525:Pkhd1l1 UTSW 15 44,448,322 (GRCm39) missense possibly damaging 0.88
R9542:Pkhd1l1 UTSW 15 44,410,284 (GRCm39) missense probably benign 0.12
R9544:Pkhd1l1 UTSW 15 44,410,239 (GRCm39) missense probably damaging 1.00
R9608:Pkhd1l1 UTSW 15 44,442,029 (GRCm39) missense possibly damaging 0.65
R9673:Pkhd1l1 UTSW 15 44,386,901 (GRCm39) missense probably benign 0.22
R9771:Pkhd1l1 UTSW 15 44,358,883 (GRCm39) missense probably benign
R9792:Pkhd1l1 UTSW 15 44,406,983 (GRCm39) missense probably benign 0.00
R9793:Pkhd1l1 UTSW 15 44,406,983 (GRCm39) missense probably benign 0.00
R9795:Pkhd1l1 UTSW 15 44,406,983 (GRCm39) missense probably benign 0.00
RF006:Pkhd1l1 UTSW 15 44,421,903 (GRCm39) critical splice acceptor site probably benign
RF006:Pkhd1l1 UTSW 15 44,366,634 (GRCm39) missense probably benign 0.03
RF008:Pkhd1l1 UTSW 15 44,421,901 (GRCm39) critical splice acceptor site probably benign
RF012:Pkhd1l1 UTSW 15 44,421,901 (GRCm39) critical splice acceptor site probably benign
RF019:Pkhd1l1 UTSW 15 44,421,903 (GRCm39) critical splice acceptor site probably benign
RF030:Pkhd1l1 UTSW 15 44,421,898 (GRCm39) critical splice acceptor site probably benign
RF033:Pkhd1l1 UTSW 15 44,421,902 (GRCm39) critical splice acceptor site probably benign
RF038:Pkhd1l1 UTSW 15 44,421,899 (GRCm39) critical splice acceptor site probably benign
RF046:Pkhd1l1 UTSW 15 44,421,891 (GRCm39) critical splice acceptor site probably benign
X0027:Pkhd1l1 UTSW 15 44,455,362 (GRCm39) missense probably damaging 0.99
Z1177:Pkhd1l1 UTSW 15 44,441,974 (GRCm39) missense probably damaging 0.99
Z1177:Pkhd1l1 UTSW 15 44,436,972 (GRCm39) missense probably damaging 0.97
Predicted Primers PCR Primer
(F):5'- AGGCACTCTGAAGCTTTCTTG -3'
(R):5'- GGTTACAACGAGAAGGCTATTATGC -3'

Sequencing Primer
(F):5'- CACTCTGAAGCTTTCTTGTGTTAG -3'
(R):5'- CGAGAAGGCTATTATGCTCCAG -3'
Posted On 2016-03-01