Incidental Mutation 'R7738:Plekhn1'
ID 596366
Institutional Source Beutler Lab
Gene Symbol Plekhn1
Ensembl Gene ENSMUSG00000078485
Gene Name pleckstrin homology domain containing, family N member 1
Synonyms
MMRRC Submission 045794-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.117) question?
Stock # R7738 (G1)
Quality Score 225.009
Status Not validated
Chromosome 4
Chromosomal Location 156305913-156312999 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 156316691 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Methionine at position 330 (T330M)
Ref Sequence ENSEMBL: ENSMUSP00000101194 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000105569] [ENSMUST00000105571] [ENSMUST00000179543] [ENSMUST00000179886] [ENSMUST00000217885] [ENSMUST00000218699]
AlphaFold Q8C886
Predicted Effect probably damaging
Transcript: ENSMUST00000105569
AA Change: T330M

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000101194
Gene: ENSMUSG00000078485
AA Change: T330M

DomainStartEndE-ValueType
low complexity region 20 50 N/A INTRINSIC
BTB 90 187 3.55e-30 SMART
BACK 192 294 1.08e-42 SMART
Kelch 341 387 4.01e-8 SMART
Kelch 388 434 5.41e-14 SMART
Kelch 435 481 6.97e-17 SMART
Kelch 482 528 1.55e-14 SMART
Kelch 529 575 2.02e-13 SMART
Kelch 576 622 1.34e-9 SMART
low complexity region 626 640 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000105571
SMART Domains Protein: ENSMUSP00000101196
Gene: ENSMUSG00000078485

DomainStartEndE-ValueType
PH 96 192 4.6e-4 SMART
PH 227 324 8.34e-2 SMART
low complexity region 346 359 N/A INTRINSIC
low complexity region 403 414 N/A INTRINSIC
low complexity region 499 527 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000179543
SMART Domains Protein: ENSMUSP00000137253
Gene: ENSMUSG00000095567

DomainStartEndE-ValueType
low complexity region 21 58 N/A INTRINSIC
low complexity region 97 114 N/A INTRINSIC
low complexity region 121 139 N/A INTRINSIC
Pfam:Noc2 331 626 1.8e-128 PFAM
low complexity region 651 675 N/A INTRINSIC
low complexity region 701 723 N/A INTRINSIC
low complexity region 738 750 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000179886
SMART Domains Protein: ENSMUSP00000137183
Gene: ENSMUSG00000095567

DomainStartEndE-ValueType
Pfam:Noc2 172 470 1.2e-117 PFAM
low complexity region 494 518 N/A INTRINSIC
low complexity region 544 566 N/A INTRINSIC
low complexity region 581 593 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000217885
Predicted Effect probably benign
Transcript: ENSMUST00000218699
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.8%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Alkal1 T A 1: 6,459,728 (GRCm39) D101E probably benign Het
Ank2 C T 3: 126,741,271 (GRCm39) A1538T Het
Arhgap21 A G 2: 20,854,290 (GRCm39) S1701P probably damaging Het
Arhgap21 A G 2: 20,855,169 (GRCm39) Y1408H probably damaging Het
Armc3 A T 2: 19,293,761 (GRCm39) L517F probably damaging Het
Cep57l1 T A 10: 41,616,842 (GRCm39) E148D probably damaging Het
Clstn1 A C 4: 149,719,811 (GRCm39) Q452P probably damaging Het
Csmd1 C A 8: 16,151,004 (GRCm39) R1437L probably damaging Het
Dcbld1 C T 10: 52,188,922 (GRCm39) T249I possibly damaging Het
Dsp A G 13: 38,369,151 (GRCm39) E749G probably damaging Het
Enox1 A C 14: 77,815,220 (GRCm39) N126T probably damaging Het
Fgfr1 T A 8: 26,048,201 (GRCm39) L99Q probably damaging Het
Fscn3 G A 6: 28,434,445 (GRCm39) R340Q probably benign Het
Glrb C T 3: 80,767,491 (GRCm39) C243Y probably damaging Het
Gpld1 A T 13: 25,146,305 (GRCm39) Y183F probably damaging Het
Has2 T C 15: 56,531,108 (GRCm39) K536E possibly damaging Het
Igtp A G 11: 58,097,906 (GRCm39) E359G probably benign Het
Kat14 A G 2: 144,236,162 (GRCm39) D509G probably damaging Het
Kbtbd2 C A 6: 56,756,722 (GRCm39) S338I possibly damaging Het
Mpdz A G 4: 81,253,986 (GRCm39) S1049P probably benign Het
Ncoa3 C T 2: 165,891,987 (GRCm39) A121V probably damaging Het
Nfatc4 A G 14: 56,069,414 (GRCm39) T647A possibly damaging Het
Nip7 T C 8: 107,783,997 (GRCm39) F79S probably damaging Het
Nrxn3 A C 12: 88,817,074 (GRCm39) E251D possibly damaging Het
Olig2 T C 16: 91,024,048 (GRCm39) I254T unknown Het
Or55b4 C A 7: 102,133,818 (GRCm39) V170F probably damaging Het
Or5ac16 G A 16: 59,022,318 (GRCm39) A157V probably benign Het
Ostf1 A T 19: 18,562,065 (GRCm39) L177* probably null Het
Pabpc2 A T 18: 39,907,319 (GRCm39) I195F possibly damaging Het
Pacs1 A T 19: 5,202,378 (GRCm39) M404K probably benign Het
Pcdh1 A G 18: 38,330,529 (GRCm39) S964P probably benign Het
Pcdhb3 T A 18: 37,436,012 (GRCm39) N659K probably benign Het
Pla2g6 A T 15: 79,181,633 (GRCm39) Y537* probably null Het
Proc G A 18: 32,260,532 (GRCm39) R198* probably null Het
Rfx8 G T 1: 39,722,091 (GRCm39) T298K probably damaging Het
S1pr4 A C 10: 81,334,341 (GRCm39) S378A probably benign Het
Saxo5 T C 8: 3,533,525 (GRCm39) F277S probably damaging Het
Slfn2 T A 11: 82,960,799 (GRCm39) F259L probably damaging Het
Snx14 T C 9: 88,289,527 (GRCm39) T242A probably benign Het
Sptbn2 A G 19: 4,774,153 (GRCm39) N68S probably damaging Het
Tmem44 A T 16: 30,362,228 (GRCm39) S201T probably benign Het
Ttc3 A T 16: 94,188,241 (GRCm39) I177L probably benign Het
Vmn1r177 T C 7: 23,565,559 (GRCm39) T106A probably damaging Het
Vmn1r28 T C 6: 58,243,039 (GRCm39) M294T probably benign Het
Zfp518b G A 5: 38,829,530 (GRCm39) T825I probably benign Het
Zfp729b A T 13: 67,740,194 (GRCm39) N690K probably benign Het
Other mutations in Plekhn1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00162:Plekhn1 APN 4 156,307,820 (GRCm39) missense probably damaging 1.00
IGL00473:Plekhn1 APN 4 156,307,820 (GRCm39) missense probably damaging 1.00
IGL02104:Plekhn1 APN 4 156,306,865 (GRCm39) missense probably benign 0.25
IGL02122:Plekhn1 APN 4 156,308,313 (GRCm39) critical splice donor site probably null
IGL02210:Plekhn1 APN 4 156,308,106 (GRCm39) missense probably damaging 1.00
PIT4142001:Plekhn1 UTSW 4 156,309,397 (GRCm39) nonsense probably null
PIT4366001:Plekhn1 UTSW 4 156,309,268 (GRCm39) missense probably damaging 0.99
R0123:Plekhn1 UTSW 4 156,312,700 (GRCm39) missense probably benign 0.13
R0134:Plekhn1 UTSW 4 156,312,700 (GRCm39) missense probably benign 0.13
R0225:Plekhn1 UTSW 4 156,312,700 (GRCm39) missense probably benign 0.13
R0276:Plekhn1 UTSW 4 156,312,703 (GRCm39) missense probably damaging 0.99
R0282:Plekhn1 UTSW 4 156,312,780 (GRCm39) splice site probably benign
R0540:Plekhn1 UTSW 4 156,307,204 (GRCm39) missense possibly damaging 0.87
R0569:Plekhn1 UTSW 4 156,309,658 (GRCm39) missense probably damaging 1.00
R0656:Plekhn1 UTSW 4 156,309,821 (GRCm39) missense possibly damaging 0.55
R0798:Plekhn1 UTSW 4 156,312,720 (GRCm39) missense probably damaging 0.96
R0848:Plekhn1 UTSW 4 156,308,021 (GRCm39) critical splice donor site probably null
R1803:Plekhn1 UTSW 4 156,306,838 (GRCm39) missense probably benign 0.20
R2168:Plekhn1 UTSW 4 156,306,339 (GRCm39) missense probably damaging 0.99
R2356:Plekhn1 UTSW 4 156,307,158 (GRCm39) missense probably damaging 1.00
R2516:Plekhn1 UTSW 4 156,307,116 (GRCm39) missense probably damaging 1.00
R3746:Plekhn1 UTSW 4 156,310,051 (GRCm39) missense probably benign 0.00
R3818:Plekhn1 UTSW 4 156,309,990 (GRCm39) missense probably damaging 1.00
R3902:Plekhn1 UTSW 4 156,310,126 (GRCm39) missense possibly damaging 0.75
R4024:Plekhn1 UTSW 4 156,309,207 (GRCm39) missense probably damaging 1.00
R4057:Plekhn1 UTSW 4 156,309,150 (GRCm39) splice site probably null
R4176:Plekhn1 UTSW 4 156,306,258 (GRCm39) missense probably benign 0.02
R4402:Plekhn1 UTSW 4 156,309,813 (GRCm39) missense probably damaging 1.00
R4405:Plekhn1 UTSW 4 156,309,730 (GRCm39) splice site probably null
R4477:Plekhn1 UTSW 4 156,307,856 (GRCm39) missense probably damaging 1.00
R4515:Plekhn1 UTSW 4 156,309,988 (GRCm39) missense probably damaging 1.00
R4517:Plekhn1 UTSW 4 156,309,988 (GRCm39) missense probably damaging 1.00
R4518:Plekhn1 UTSW 4 156,309,988 (GRCm39) missense probably damaging 1.00
R5086:Plekhn1 UTSW 4 156,306,881 (GRCm39) missense probably benign 0.00
R5092:Plekhn1 UTSW 4 156,309,222 (GRCm39) missense possibly damaging 0.93
R5201:Plekhn1 UTSW 4 156,314,984 (GRCm39) missense probably benign 0.00
R5896:Plekhn1 UTSW 4 156,308,331 (GRCm39) missense probably benign 0.02
R5913:Plekhn1 UTSW 4 156,307,152 (GRCm39) missense probably damaging 1.00
R6124:Plekhn1 UTSW 4 156,309,696 (GRCm39) missense possibly damaging 0.87
R6244:Plekhn1 UTSW 4 156,315,015 (GRCm39) splice site probably null
R6263:Plekhn1 UTSW 4 156,309,650 (GRCm39) critical splice donor site probably null
R6430:Plekhn1 UTSW 4 156,306,261 (GRCm39) missense probably benign 0.00
R6703:Plekhn1 UTSW 4 156,309,250 (GRCm39) missense probably benign 0.00
R6723:Plekhn1 UTSW 4 156,309,026 (GRCm39) missense probably damaging 1.00
R6741:Plekhn1 UTSW 4 156,306,249 (GRCm39) missense probably damaging 0.98
R7057:Plekhn1 UTSW 4 156,318,374 (GRCm39) missense probably damaging 0.99
R7135:Plekhn1 UTSW 4 156,307,792 (GRCm39) missense probably benign 0.04
R7347:Plekhn1 UTSW 4 156,307,128 (GRCm39) missense probably benign 0.00
R7408:Plekhn1 UTSW 4 156,318,418 (GRCm39) missense probably benign 0.14
R7423:Plekhn1 UTSW 4 156,315,142 (GRCm39) missense probably benign 0.15
R7500:Plekhn1 UTSW 4 156,317,771 (GRCm39) missense probably benign 0.19
R7613:Plekhn1 UTSW 4 156,309,277 (GRCm39) missense probably benign 0.00
R7626:Plekhn1 UTSW 4 156,310,110 (GRCm39) missense probably benign 0.00
R8065:Plekhn1 UTSW 4 156,312,697 (GRCm39) missense possibly damaging 0.75
R8067:Plekhn1 UTSW 4 156,312,697 (GRCm39) missense possibly damaging 0.75
R8744:Plekhn1 UTSW 4 156,318,364 (GRCm39) missense probably damaging 1.00
R8746:Plekhn1 UTSW 4 156,316,682 (GRCm39) missense probably damaging 1.00
R8839:Plekhn1 UTSW 4 156,307,046 (GRCm39) intron probably benign
R8841:Plekhn1 UTSW 4 156,316,655 (GRCm39) missense probably damaging 0.98
R8900:Plekhn1 UTSW 4 156,310,078 (GRCm39) missense possibly damaging 0.87
R9208:Plekhn1 UTSW 4 156,306,859 (GRCm39) missense possibly damaging 0.86
R9723:Plekhn1 UTSW 4 156,306,875 (GRCm39) missense probably benign 0.00
X0023:Plekhn1 UTSW 4 156,306,811 (GRCm39) missense possibly damaging 0.76
X0065:Plekhn1 UTSW 4 156,309,372 (GRCm39) critical splice donor site probably null
Z1176:Plekhn1 UTSW 4 156,307,888 (GRCm39) missense possibly damaging 0.47
Predicted Primers PCR Primer
(F):5'- AGTACAAAGACATGAAGGCTCC -3'
(R):5'- CTGCCCTAGTTGATGAAGTGTG -3'

Sequencing Primer
(F):5'- CATGAAGGCTCCAGGGGTG -3'
(R):5'- AAGTGTGTACGGCTGCCTC -3'
Posted On 2019-11-26