Incidental Mutation 'R0103:Pkhd1l1'
ID 17874
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 038389-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0103 (G1)
Quality Score
Status Validated
Chromosome 15
Chromosomal Location 44320890-44464765 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 44460537 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Arginine at position 4249 (C4249R)
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 benign
Transcript: ENSMUST00000038336
SMART Domains Protein: ENSMUSP00000036988
Gene: ENSMUSG00000038725

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 benign
Transcript: ENSMUST00000166957
AA Change: C4249R

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000129522
Gene: ENSMUSG00000038725
AA Change: C4249R

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 benign
Transcript: ENSMUST00000209244
Predicted Effect noncoding transcript
Transcript: ENSMUST00000209939
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 89.4%
  • 3x: 86.4%
  • 10x: 77.8%
  • 20x: 63.0%
Validation Efficiency 91% (89/98)
Allele List at MGI
Other mutations in this stock
Total: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 A C 11: 9,223,951 (GRCm39) R443S probably damaging Het
Adgrl3 A G 5: 81,940,194 (GRCm39) probably benign Het
Anapc1 T C 2: 128,522,372 (GRCm39) probably benign Het
Aqr T A 2: 113,979,497 (GRCm39) I313F probably damaging Het
Arfgap3 A T 15: 83,206,922 (GRCm39) probably benign Het
Asah2 G T 19: 31,996,377 (GRCm39) H374N probably benign Het
Catspere2 A G 1: 177,943,771 (GRCm39) N703D unknown Het
Ccdc106 C A 7: 5,060,544 (GRCm39) Q35K probably benign Het
Ccm2l G T 2: 152,909,839 (GRCm39) E64* probably null Het
Cep85l A T 10: 53,154,270 (GRCm39) D776E possibly damaging Het
Cfap52 T A 11: 67,815,951 (GRCm39) I611F possibly damaging Het
Cldn22 C T 8: 48,277,589 (GRCm39) T9M probably benign Het
Coa7 T C 4: 108,195,338 (GRCm39) L89P possibly damaging Het
Cox7a2l A T 17: 83,821,701 (GRCm39) Y2N probably damaging Het
Cyp27a1 A C 1: 74,775,074 (GRCm39) E301A probably benign Het
Dennd4c A G 4: 86,730,683 (GRCm39) Y860C probably benign Het
Dhx58 T C 11: 100,586,096 (GRCm39) T642A probably damaging Het
Dlg4 A G 11: 69,922,019 (GRCm39) Y87C probably damaging Het
Dnah6 C T 6: 73,069,155 (GRCm39) E2511K probably damaging Het
Entpd5 C A 12: 84,443,717 (GRCm39) E9* probably null Het
Fbln2 A C 6: 91,248,532 (GRCm39) I1066L probably benign Het
Fhl2 C T 1: 43,192,381 (GRCm39) R4H probably benign Het
Frmpd1 T A 4: 45,229,884 (GRCm39) I17K probably damaging Het
Gbp7 T A 3: 142,252,299 (GRCm39) N627K probably benign Het
Gnptab A G 10: 88,265,381 (GRCm39) Y331C probably damaging Het
Hibadh T A 6: 52,534,862 (GRCm39) M173L probably benign Het
Itga1 T C 13: 115,152,790 (GRCm39) I211V probably benign Het
Keg1 A T 19: 12,696,280 (GRCm39) I155F possibly damaging Het
Ltb A G 17: 35,414,016 (GRCm39) probably benign Het
Manea A T 4: 26,329,080 (GRCm39) probably null Het
Ms4a4a T A 19: 11,370,048 (GRCm39) M202K possibly damaging Het
Myo3a T G 2: 22,436,360 (GRCm39) probably benign Het
Myo9b C T 8: 71,776,493 (GRCm39) probably benign Het
Nanos3 C T 8: 84,902,763 (GRCm39) R133Q probably damaging Het
Ncor1 G T 11: 62,233,871 (GRCm39) Q444K possibly damaging Het
Nek7 A T 1: 138,471,980 (GRCm39) C53* probably null Het
Obscn G T 11: 58,953,522 (GRCm39) Y4044* probably null Het
Pcsk6 T C 7: 65,578,845 (GRCm39) probably benign Het
Phax T A 18: 56,695,785 (GRCm39) V7D probably benign Het
Phxr4 T C 9: 13,343,087 (GRCm39) probably benign Het
Pkhd1 T A 1: 20,593,583 (GRCm39) D1510V probably benign Het
Prpf39 T C 12: 65,102,057 (GRCm39) V378A possibly damaging Het
Psd2 A G 18: 36,137,770 (GRCm39) N455S probably damaging Het
Ptpro T A 6: 137,420,592 (GRCm39) V1007D probably damaging Het
Rab4b A G 7: 26,873,927 (GRCm39) I117T probably benign Het
Rad9b A T 5: 122,469,590 (GRCm39) V348E probably damaging Het
Rcor1 T C 12: 111,076,212 (GRCm39) probably benign Het
Rhoc A T 3: 104,699,307 (GRCm39) E32V possibly damaging Het
Rnf40 T G 7: 127,199,743 (GRCm39) V925G probably damaging Het
Slc25a32 A T 15: 38,963,292 (GRCm39) Y176* probably null Het
Slc7a1 T A 5: 148,289,236 (GRCm39) K4* probably null Het
Taar2 G A 10: 23,817,393 (GRCm39) R311H probably benign Het
Taar4 A T 10: 23,837,304 (GRCm39) N305Y probably damaging Het
Tcaf1 G T 6: 42,663,324 (GRCm39) D185E probably benign Het
Tmem138 T C 19: 10,552,316 (GRCm39) N62S possibly damaging Het
Tnfrsf25 C T 4: 152,201,405 (GRCm39) P65S possibly damaging Het
Trp53bp1 A T 2: 121,067,240 (GRCm39) S495R possibly damaging Het
Trpv3 T C 11: 73,184,805 (GRCm39) F597S probably damaging Het
Ugt2a3 A G 5: 87,484,577 (GRCm39) V149A possibly damaging Het
Ush2a T G 1: 188,051,267 (GRCm39) I251R possibly damaging Het
Vamp4 T C 1: 162,417,108 (GRCm39) C114R possibly damaging Het
Zc3h13 T A 14: 75,567,908 (GRCm39) V1067E probably damaging Het
Zcwpw1 G A 5: 137,808,375 (GRCm39) W274* probably null 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
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
R4858:Pkhd1l1 UTSW 15 44,354,497 (GRCm39) missense probably damaging 0.99
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
Posted On 2013-03-25