Incidental Mutation 'IGL02472:Plch1'
ID 294764
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Plch1
Ensembl Gene ENSMUSG00000036834
Gene Name phospholipase C, eta 1
Synonyms Plcl3, PLCeta1
Accession Numbers
Essential gene? Probably non essential (E-score: 0.244) question?
Stock # IGL02472
Quality Score
Status
Chromosome 3
Chromosomal Location 63603655-63806893 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 63609270 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Glutamine at position 65 (L65Q)
Gene Model predicted gene model for transcript(s): [ENSMUST00000048134] [ENSMUST00000059973] [ENSMUST00000084105] [ENSMUST00000159676] [ENSMUST00000160638] [ENSMUST00000177143] [ENSMUST00000162269] [ENSMUST00000175947]
AlphaFold Q4KWH5
Predicted Effect possibly damaging
Transcript: ENSMUST00000048134
AA Change: L940Q

PolyPhen 2 Score 0.727 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000047693
Gene: ENSMUSG00000036834
AA Change: L940Q

DomainStartEndE-ValueType
PH 3 112 2.37e-6 SMART
EFh 128 156 2.41e-4 SMART
EFh 164 193 1.54e-2 SMART
Pfam:EF-hand_like 198 280 2.2e-26 PFAM
PLCXc 281 426 3.13e-71 SMART
low complexity region 440 453 N/A INTRINSIC
low complexity region 564 581 N/A INTRINSIC
PLCYc 583 696 3.4e-49 SMART
C2 715 823 5.47e-22 SMART
low complexity region 979 997 N/A INTRINSIC
low complexity region 1079 1091 N/A INTRINSIC
low complexity region 1420 1435 N/A INTRINSIC
low complexity region 1543 1557 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000059973
AA Change: L978Q

PolyPhen 2 Score 0.727 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000058524
Gene: ENSMUSG00000036834
AA Change: L978Q

DomainStartEndE-ValueType
PH 21 130 1.1e-8 SMART
EFh 146 174 1.1e-6 SMART
EFh 182 211 7.6e-5 SMART
Pfam:EF-hand_like 216 298 4.5e-24 PFAM
PLCXc 299 444 1.6e-73 SMART
low complexity region 458 471 N/A INTRINSIC
low complexity region 582 599 N/A INTRINSIC
PLCYc 601 714 1.7e-51 SMART
C2 733 841 3.7e-24 SMART
low complexity region 1017 1035 N/A INTRINSIC
low complexity region 1117 1129 N/A INTRINSIC
low complexity region 1458 1473 N/A INTRINSIC
low complexity region 1581 1595 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000084105
AA Change: L979Q

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000081122
Gene: ENSMUSG00000036834
AA Change: L979Q

DomainStartEndE-ValueType
PH 21 130 2.37e-6 SMART
EFh 146 174 2.41e-4 SMART
EFh 182 211 1.54e-2 SMART
Pfam:EF-hand_like 216 298 2.4e-27 PFAM
PLCXc 299 444 3.13e-71 SMART
low complexity region 458 471 N/A INTRINSIC
low complexity region 583 600 N/A INTRINSIC
PLCYc 602 715 3.4e-49 SMART
C2 734 842 5.47e-22 SMART
low complexity region 1018 1036 N/A INTRINSIC
low complexity region 1118 1130 N/A INTRINSIC
low complexity region 1459 1474 N/A INTRINSIC
low complexity region 1582 1596 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000159374
Predicted Effect probably damaging
Transcript: ENSMUST00000159676
AA Change: L979Q

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000124632
Gene: ENSMUSG00000036834
AA Change: L979Q

DomainStartEndE-ValueType
PH 21 130 2.37e-6 SMART
EFh 146 174 2.41e-4 SMART
EFh 182 211 1.54e-2 SMART
Pfam:EF-hand_like 216 298 1.8e-26 PFAM
PLCXc 299 444 3.13e-71 SMART
low complexity region 458 471 N/A INTRINSIC
low complexity region 583 600 N/A INTRINSIC
PLCYc 602 715 3.4e-49 SMART
C2 734 842 5.47e-22 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000159982
Predicted Effect probably benign
Transcript: ENSMUST00000160638
AA Change: L979Q

PolyPhen 2 Score 0.107 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000123921
Gene: ENSMUSG00000036834
AA Change: L979Q

DomainStartEndE-ValueType
PH 21 130 2.37e-6 SMART
EFh 146 174 2.41e-4 SMART
EFh 182 211 1.54e-2 SMART
Pfam:EF-hand_like 216 298 5.3e-28 PFAM
PLCXc 299 444 3.13e-71 SMART
low complexity region 458 471 N/A INTRINSIC
low complexity region 583 600 N/A INTRINSIC
PLCYc 602 715 3.4e-49 SMART
C2 734 842 5.47e-22 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000177143
AA Change: L970Q

PolyPhen 2 Score 0.727 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000135424
Gene: ENSMUSG00000036834
AA Change: L970Q

DomainStartEndE-ValueType
PH 33 142 2.37e-6 SMART
EFh 158 186 2.41e-4 SMART
EFh 194 223 1.54e-2 SMART
Pfam:EF-hand_like 228 310 2.3e-26 PFAM
PLCXc 311 456 3.13e-71 SMART
low complexity region 470 483 N/A INTRINSIC
low complexity region 594 611 N/A INTRINSIC
PLCYc 613 726 3.4e-49 SMART
C2 745 853 5.47e-22 SMART
low complexity region 1009 1027 N/A INTRINSIC
low complexity region 1109 1121 N/A INTRINSIC
low complexity region 1450 1465 N/A INTRINSIC
low complexity region 1573 1587 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000162269
AA Change: L979Q

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000124463
Gene: ENSMUSG00000036834
AA Change: L979Q

DomainStartEndE-ValueType
PH 21 130 2.37e-6 SMART
EFh 146 174 2.41e-4 SMART
EFh 182 211 1.54e-2 SMART
Pfam:EF-hand_like 216 298 1.7e-26 PFAM
PLCXc 299 444 3.13e-71 SMART
low complexity region 458 471 N/A INTRINSIC
low complexity region 583 600 N/A INTRINSIC
PLCYc 602 715 3.4e-49 SMART
C2 734 842 5.47e-22 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000176861
AA Change: L65Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably benign
Transcript: ENSMUST00000175947
AA Change: L958Q

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000135353
Gene: ENSMUSG00000036834
AA Change: L958Q

DomainStartEndE-ValueType
PH 21 130 2.37e-6 SMART
EFh 146 174 2.41e-4 SMART
EFh 182 211 1.54e-2 SMART
Pfam:EF-hand_like 216 298 1.2e-26 PFAM
PLCXc 299 444 3.13e-71 SMART
low complexity region 458 471 N/A INTRINSIC
low complexity region 582 599 N/A INTRINSIC
PLCYc 601 714 3.4e-49 SMART
C2 733 841 5.47e-22 SMART
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] PLCH1 is a member of the PLC-eta family of the phosphoinositide-specific phospholipase C (PLC) superfamily of enzymes that cleave phosphatidylinositol 4,5-bisphosphate (PtdIns(4,5)P2) to generate second messengers inositol 1,4,5-trisphosphate (IP3) and diacylglycerol (DAG) (Hwang et al., 2005 [PubMed 15702972]).[supplied by OMIM, Jun 2009]
Allele List at MGI
Other mutations in this stock
Total: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110038F14Rik A G 15: 76,834,578 (GRCm39) N158S probably damaging Het
Ankrd17 A C 5: 90,412,010 (GRCm39) L1285V probably damaging Het
Atp8b2 G A 3: 89,861,546 (GRCm39) T267I probably damaging Het
Becn1 C T 11: 101,182,224 (GRCm39) G115D probably benign Het
Cdc45 C T 16: 18,617,479 (GRCm39) M200I probably benign Het
Chd6 A C 2: 160,826,372 (GRCm39) probably benign Het
Col22a1 A G 15: 71,699,602 (GRCm39) probably benign Het
Csgalnact1 C A 8: 68,854,144 (GRCm39) G219V probably damaging Het
Dnm2 A G 9: 21,397,004 (GRCm39) I494V possibly damaging Het
Dock2 T A 11: 34,199,801 (GRCm39) E1416D probably benign Het
Eif2ak1 A G 5: 143,821,701 (GRCm39) H339R probably benign Het
Espnl C T 1: 91,268,256 (GRCm39) P294L probably benign Het
Ftmt T A 18: 52,464,912 (GRCm39) I76N possibly damaging Het
Gorasp2 T G 2: 70,506,803 (GRCm39) probably benign Het
Hadhb T A 5: 30,389,061 (GRCm39) M468K possibly damaging Het
Hfm1 A G 5: 107,021,794 (GRCm39) probably benign Het
Inpp5j T C 11: 3,445,338 (GRCm39) probably benign Het
Ipo7 T A 7: 109,640,060 (GRCm39) F288I probably damaging Het
Kcnv1 T A 15: 44,972,519 (GRCm39) K455* probably null Het
Kdm5a A G 6: 120,383,691 (GRCm39) probably benign Het
Kmt2d G A 15: 98,747,958 (GRCm39) S3122F probably benign Het
Kndc1 A G 7: 139,490,817 (GRCm39) I440V probably benign Het
Mib2 T A 4: 155,741,203 (GRCm39) I545F probably damaging Het
Nav2 C T 7: 49,195,789 (GRCm39) P1055L probably damaging Het
Or4c10b T A 2: 89,711,755 (GRCm39) I195N probably benign Het
Or5v1b C A 17: 37,841,640 (GRCm39) F257L probably damaging Het
Polr1g T C 7: 19,093,030 (GRCm39) D50G probably damaging Het
Ppp3ca A G 3: 136,627,623 (GRCm39) I396V possibly damaging Het
Ryr1 A T 7: 28,740,269 (GRCm39) N3917K probably damaging Het
Scn7a T C 2: 66,582,658 (GRCm39) T80A probably damaging Het
Sema3f C T 9: 107,564,935 (GRCm39) E307K probably damaging Het
Serpinb9b A T 13: 33,223,953 (GRCm39) probably benign Het
Siglec15 T A 18: 78,086,832 (GRCm39) K342N possibly damaging Het
Slc2a12 T C 10: 22,541,054 (GRCm39) F303S probably damaging Het
Slc9c1 T C 16: 45,400,505 (GRCm39) V705A probably benign Het
Tenm4 T C 7: 96,423,383 (GRCm39) probably benign Het
Tm6sf1 A T 7: 81,525,572 (GRCm39) probably benign Het
Tmem245 T C 4: 56,899,119 (GRCm39) Y269C probably damaging Het
Txndc2 A G 17: 65,944,971 (GRCm39) I402T possibly damaging Het
Ube4b A G 4: 149,471,536 (GRCm39) probably null Het
Usp28 T A 9: 48,949,069 (GRCm39) Y863N possibly damaging Het
Vmn2r69 T C 7: 85,058,960 (GRCm39) I534V probably benign Het
Wdr89 A T 12: 75,679,743 (GRCm39) D170E probably damaging Het
Zfp280d C A 9: 72,208,993 (GRCm39) N74K probably damaging Het
Zfp518a G A 19: 40,903,061 (GRCm39) G997R probably damaging Het
Other mutations in Plch1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01397:Plch1 APN 3 63,639,150 (GRCm39) splice site probably null
IGL01542:Plch1 APN 3 63,639,070 (GRCm39) missense probably damaging 0.99
IGL01999:Plch1 APN 3 63,660,728 (GRCm39) missense probably damaging 1.00
IGL02153:Plch1 APN 3 63,688,772 (GRCm39) missense probably damaging 1.00
IGL02203:Plch1 APN 3 63,606,160 (GRCm39) missense possibly damaging 0.46
IGL02220:Plch1 APN 3 63,606,382 (GRCm39) missense probably damaging 0.97
IGL02259:Plch1 APN 3 63,630,170 (GRCm39) critical splice donor site probably null
IGL02268:Plch1 APN 3 63,606,704 (GRCm39) makesense probably null
IGL02411:Plch1 APN 3 63,605,177 (GRCm39) splice site probably null
IGL02477:Plch1 APN 3 63,660,714 (GRCm39) missense probably damaging 1.00
IGL02503:Plch1 APN 3 63,605,285 (GRCm39) missense probably damaging 1.00
IGL02800:Plch1 APN 3 63,605,899 (GRCm39) missense probably benign 0.21
IGL03167:Plch1 APN 3 63,630,165 (GRCm39) splice site probably benign
IGL03182:Plch1 APN 3 63,610,015 (GRCm39) nonsense probably null
IGL03197:Plch1 APN 3 63,660,591 (GRCm39) missense probably damaging 1.00
IGL03251:Plch1 APN 3 63,691,423 (GRCm39) missense possibly damaging 0.93
BB009:Plch1 UTSW 3 63,609,402 (GRCm39) missense probably benign 0.05
BB019:Plch1 UTSW 3 63,609,402 (GRCm39) missense probably benign 0.05
R0335:Plch1 UTSW 3 63,618,399 (GRCm39) missense probably damaging 1.00
R0347:Plch1 UTSW 3 63,660,737 (GRCm39) missense probably damaging 1.00
R0631:Plch1 UTSW 3 63,606,640 (GRCm39) missense probably benign 0.23
R0687:Plch1 UTSW 3 63,623,450 (GRCm39) missense probably damaging 1.00
R0738:Plch1 UTSW 3 63,609,974 (GRCm39) intron probably benign
R0883:Plch1 UTSW 3 63,660,677 (GRCm39) missense probably damaging 1.00
R1437:Plch1 UTSW 3 63,604,954 (GRCm39) missense probably benign 0.37
R1678:Plch1 UTSW 3 63,648,115 (GRCm39) missense probably damaging 1.00
R1738:Plch1 UTSW 3 63,626,659 (GRCm39) missense probably benign 0.12
R1929:Plch1 UTSW 3 63,651,956 (GRCm39) missense probably damaging 1.00
R1955:Plch1 UTSW 3 63,662,688 (GRCm39) missense probably damaging 0.98
R2078:Plch1 UTSW 3 63,609,364 (GRCm39) missense probably benign 0.01
R2112:Plch1 UTSW 3 63,630,227 (GRCm39) missense probably damaging 1.00
R2158:Plch1 UTSW 3 63,628,655 (GRCm39) missense probably benign 0.00
R2165:Plch1 UTSW 3 63,605,903 (GRCm39) missense probably benign 0.01
R2259:Plch1 UTSW 3 63,605,398 (GRCm39) missense possibly damaging 0.94
R2271:Plch1 UTSW 3 63,651,956 (GRCm39) missense probably damaging 1.00
R3110:Plch1 UTSW 3 63,616,952 (GRCm39) missense probably damaging 1.00
R3112:Plch1 UTSW 3 63,616,952 (GRCm39) missense probably damaging 1.00
R3407:Plch1 UTSW 3 63,606,768 (GRCm39) unclassified probably benign
R3408:Plch1 UTSW 3 63,606,768 (GRCm39) unclassified probably benign
R3791:Plch1 UTSW 3 63,606,944 (GRCm39) missense probably benign
R3793:Plch1 UTSW 3 63,605,252 (GRCm39) missense probably damaging 0.96
R3928:Plch1 UTSW 3 63,675,044 (GRCm39) missense probably damaging 1.00
R4211:Plch1 UTSW 3 63,618,640 (GRCm39) missense probably damaging 1.00
R4212:Plch1 UTSW 3 63,778,180 (GRCm39) start gained probably benign
R4223:Plch1 UTSW 3 63,609,321 (GRCm39) missense probably damaging 1.00
R4491:Plch1 UTSW 3 63,648,160 (GRCm39) missense probably damaging 1.00
R4589:Plch1 UTSW 3 63,688,928 (GRCm39) missense probably damaging 1.00
R4656:Plch1 UTSW 3 63,611,598 (GRCm39) missense probably damaging 1.00
R4701:Plch1 UTSW 3 63,606,917 (GRCm39) splice site probably null
R4716:Plch1 UTSW 3 63,688,967 (GRCm39) missense probably damaging 1.00
R4772:Plch1 UTSW 3 63,660,746 (GRCm39) missense probably damaging 1.00
R4902:Plch1 UTSW 3 63,648,264 (GRCm39) intron probably benign
R5058:Plch1 UTSW 3 63,630,202 (GRCm39) missense probably damaging 1.00
R5092:Plch1 UTSW 3 63,606,131 (GRCm39) missense probably benign 0.02
R5093:Plch1 UTSW 3 63,681,136 (GRCm39) missense probably damaging 0.99
R5210:Plch1 UTSW 3 63,607,199 (GRCm39) critical splice donor site probably null
R5368:Plch1 UTSW 3 63,609,394 (GRCm39) missense possibly damaging 0.82
R5373:Plch1 UTSW 3 63,605,499 (GRCm39) missense probably benign 0.01
R5374:Plch1 UTSW 3 63,605,499 (GRCm39) missense probably benign 0.01
R5501:Plch1 UTSW 3 63,615,162 (GRCm39) missense probably damaging 1.00
R5606:Plch1 UTSW 3 63,648,108 (GRCm39) missense probably benign 0.35
R5738:Plch1 UTSW 3 63,681,076 (GRCm39) missense probably damaging 1.00
R5835:Plch1 UTSW 3 63,604,943 (GRCm39) missense probably benign
R6106:Plch1 UTSW 3 63,609,444 (GRCm39) missense probably damaging 1.00
R6107:Plch1 UTSW 3 63,609,444 (GRCm39) missense probably damaging 1.00
R6108:Plch1 UTSW 3 63,609,444 (GRCm39) missense probably damaging 1.00
R6110:Plch1 UTSW 3 63,606,279 (GRCm39) missense possibly damaging 0.62
R6116:Plch1 UTSW 3 63,609,444 (GRCm39) missense probably damaging 1.00
R6147:Plch1 UTSW 3 63,630,302 (GRCm39) missense probably damaging 1.00
R6195:Plch1 UTSW 3 63,648,210 (GRCm39) missense probably damaging 1.00
R6315:Plch1 UTSW 3 63,688,811 (GRCm39) nonsense probably null
R6316:Plch1 UTSW 3 63,688,811 (GRCm39) nonsense probably null
R6317:Plch1 UTSW 3 63,688,811 (GRCm39) nonsense probably null
R6318:Plch1 UTSW 3 63,688,811 (GRCm39) nonsense probably null
R6324:Plch1 UTSW 3 63,688,811 (GRCm39) nonsense probably null
R6325:Plch1 UTSW 3 63,688,811 (GRCm39) nonsense probably null
R6326:Plch1 UTSW 3 63,688,811 (GRCm39) nonsense probably null
R6479:Plch1 UTSW 3 63,651,931 (GRCm39) missense probably benign 0.06
R6544:Plch1 UTSW 3 63,758,399 (GRCm39) missense probably damaging 1.00
R6767:Plch1 UTSW 3 63,662,765 (GRCm39) missense probably damaging 1.00
R6829:Plch1 UTSW 3 63,604,939 (GRCm39) missense probably damaging 0.99
R6891:Plch1 UTSW 3 63,605,504 (GRCm39) missense probably benign
R6893:Plch1 UTSW 3 63,660,562 (GRCm39) nonsense probably null
R6921:Plch1 UTSW 3 63,615,155 (GRCm39) missense possibly damaging 0.90
R7298:Plch1 UTSW 3 63,623,458 (GRCm39) nonsense probably null
R7396:Plch1 UTSW 3 63,606,375 (GRCm39) missense probably benign 0.00
R7420:Plch1 UTSW 3 63,630,278 (GRCm39) missense probably damaging 1.00
R7566:Plch1 UTSW 3 63,688,663 (GRCm39) splice site probably null
R7572:Plch1 UTSW 3 63,648,105 (GRCm39) missense possibly damaging 0.89
R7649:Plch1 UTSW 3 63,605,590 (GRCm39) nonsense probably null
R7696:Plch1 UTSW 3 63,662,726 (GRCm39) missense probably benign
R7851:Plch1 UTSW 3 63,605,855 (GRCm39) missense probably damaging 0.99
R7853:Plch1 UTSW 3 63,681,068 (GRCm39) missense probably benign 0.44
R7932:Plch1 UTSW 3 63,609,402 (GRCm39) missense probably benign 0.05
R7983:Plch1 UTSW 3 63,615,164 (GRCm39) missense probably damaging 1.00
R8057:Plch1 UTSW 3 63,605,557 (GRCm39) missense probably benign
R8066:Plch1 UTSW 3 63,618,478 (GRCm39) nonsense probably null
R8206:Plch1 UTSW 3 63,610,047 (GRCm39) splice site probably null
R8678:Plch1 UTSW 3 63,623,468 (GRCm39) nonsense probably null
R8731:Plch1 UTSW 3 63,605,059 (GRCm39) missense probably benign 0.37
R8739:Plch1 UTSW 3 63,778,106 (GRCm39) missense possibly damaging 0.66
R8853:Plch1 UTSW 3 63,688,967 (GRCm39) missense probably damaging 1.00
R8875:Plch1 UTSW 3 63,618,391 (GRCm39) missense probably damaging 1.00
R8945:Plch1 UTSW 3 63,639,039 (GRCm39) missense probably benign 0.02
R8947:Plch1 UTSW 3 63,691,547 (GRCm39) missense probably damaging 0.99
R8953:Plch1 UTSW 3 63,639,126 (GRCm39) missense possibly damaging 0.94
R9065:Plch1 UTSW 3 63,674,924 (GRCm39) missense probably damaging 1.00
R9068:Plch1 UTSW 3 63,612,036 (GRCm39) missense probably damaging 1.00
R9188:Plch1 UTSW 3 63,639,075 (GRCm39) missense probably null 1.00
R9238:Plch1 UTSW 3 63,606,412 (GRCm39) missense possibly damaging 0.53
R9478:Plch1 UTSW 3 63,606,825 (GRCm39) missense probably benign 0.01
R9526:Plch1 UTSW 3 63,758,549 (GRCm39) intron probably benign
R9539:Plch1 UTSW 3 63,691,427 (GRCm39) missense probably null 0.01
R9634:Plch1 UTSW 3 63,605,152 (GRCm39) missense probably damaging 1.00
R9643:Plch1 UTSW 3 63,660,747 (GRCm39) missense
R9659:Plch1 UTSW 3 63,681,136 (GRCm39) missense probably benign 0.17
R9711:Plch1 UTSW 3 63,615,176 (GRCm39) missense probably damaging 1.00
R9788:Plch1 UTSW 3 63,681,136 (GRCm39) missense probably benign 0.17
R9799:Plch1 UTSW 3 63,605,591 (GRCm39) missense possibly damaging 0.89
RF018:Plch1 UTSW 3 63,628,636 (GRCm39) missense probably damaging 1.00
X0028:Plch1 UTSW 3 63,651,930 (GRCm39) missense possibly damaging 0.94
Posted On 2015-04-16