Incidental Mutation 'IGL01936:Arhgap31'
ID 180653
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Arhgap31
Ensembl Gene ENSMUSG00000022799
Gene Name Rho GTPase activating protein 31
Synonyms CdGAP
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.270) question?
Stock # IGL01936
Quality Score
Status
Chromosome 16
Chromosomal Location 38418705-38533397 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 38423287 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Phenylalanine at position 926 (L926F)
Ref Sequence ENSEMBL: ENSMUSP00000023487 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023487]
AlphaFold A6X8Z5
Predicted Effect probably damaging
Transcript: ENSMUST00000023487
AA Change: L926F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000023487
Gene: ENSMUSG00000022799
AA Change: L926F

DomainStartEndE-ValueType
RhoGAP 32 213 1.04e-60 SMART
low complexity region 291 303 N/A INTRINSIC
low complexity region 503 522 N/A INTRINSIC
low complexity region 670 683 N/A INTRINSIC
low complexity region 722 733 N/A INTRINSIC
low complexity region 766 786 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a GTPase-activating protein (GAP). A variety of cellular processes are regulated by Rho GTPases which cycle between an inactive form bound to GDP and an active form bound to GTP. This cycling between inactive and active forms is regulated by guanine nucleotide exchange factors and GAPs. The encoded protein is a GAP shown to regulate two GTPases involved in protein trafficking and cell growth. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts3 T A 5: 90,009,282 (GRCm39) H127L probably benign Het
Adamtsl3 T C 7: 82,244,579 (GRCm39) V419A possibly damaging Het
Asgr2 A T 11: 69,988,877 (GRCm39) probably null Het
C3ar1 T A 6: 122,828,194 (GRCm39) T8S probably benign Het
Caskin2 T C 11: 115,695,543 (GRCm39) I273V probably damaging Het
Ccnl2 T A 4: 155,904,856 (GRCm39) C242S probably damaging Het
Cdkn2a A T 4: 89,212,569 (GRCm39) probably null Het
Cfap45 T G 1: 172,361,616 (GRCm39) M231R probably damaging Het
Clcn7 A C 17: 25,374,350 (GRCm39) N464H probably benign Het
Col20a1 T A 2: 180,651,161 (GRCm39) probably benign Het
Col7a1 T A 9: 108,797,067 (GRCm39) probably benign Het
Cops7a T C 6: 124,939,379 (GRCm39) D90G probably benign Het
Ctcf T C 8: 106,396,864 (GRCm39) V363A probably benign Het
Cyp2j12 A G 4: 96,021,306 (GRCm39) V100A probably benign Het
Dcaf1 T A 9: 106,736,800 (GRCm39) F1085Y possibly damaging Het
Drc7 T A 8: 95,800,760 (GRCm39) F594Y possibly damaging Het
Ehbp1l1 C A 19: 5,768,277 (GRCm39) E1009* probably null Het
Epg5 C A 18: 78,028,316 (GRCm39) R1286S probably damaging Het
Etv1 T C 12: 38,885,060 (GRCm39) probably benign Het
Exosc7 T C 9: 122,964,956 (GRCm39) probably benign Het
Fam227a T C 15: 79,496,747 (GRCm39) D610G possibly damaging Het
Fat4 T A 3: 39,033,923 (GRCm39) M2525K probably benign Het
Gimap5 G T 6: 48,729,999 (GRCm39) A190S probably damaging Het
Glcci1 T A 6: 8,579,596 (GRCm39) S79T probably damaging Het
Gpnmb C T 6: 49,024,384 (GRCm39) T233I probably null Het
Hdac1-ps T C 17: 78,799,558 (GRCm39) V183A probably damaging Het
Hyls1 T C 9: 35,473,363 (GRCm39) I18V probably benign Het
Ighv1-63 C T 12: 115,459,274 (GRCm39) E108K probably damaging Het
Ighv5-12 C A 12: 113,665,927 (GRCm39) R57L probably damaging Het
Igkv5-37 T C 6: 69,940,323 (GRCm39) Y107C probably damaging Het
Il20ra T A 10: 19,631,591 (GRCm39) V264D probably damaging Het
Jph1 A T 1: 17,167,608 (GRCm39) V74E probably damaging Het
Kcnab1 C T 3: 65,265,695 (GRCm39) L280F probably damaging Het
Kcnk1 T C 8: 126,751,826 (GRCm39) F144S probably damaging Het
Kcnq1 G A 7: 142,738,241 (GRCm39) E294K possibly damaging Het
Kdm4b T A 17: 56,704,355 (GRCm39) V813E probably damaging Het
Kntc1 T A 5: 123,949,439 (GRCm39) F1937I probably damaging Het
Ldb2 G A 5: 44,637,586 (GRCm39) R241W probably damaging Het
Lgr5 T C 10: 115,288,319 (GRCm39) N703S probably damaging Het
Map4k1 A T 7: 28,688,032 (GRCm39) M227L possibly damaging Het
Mbnl1 T A 3: 60,520,940 (GRCm39) M268K possibly damaging Het
Mcm2 C A 6: 88,868,708 (GRCm39) G350C probably damaging Het
Myh2 A T 11: 67,082,599 (GRCm39) T1390S possibly damaging Het
Npat T A 9: 53,469,526 (GRCm39) probably benign Het
Nr2e1 T A 10: 42,443,969 (GRCm39) D251V possibly damaging Het
Or1x2 A G 11: 50,918,162 (GRCm39) N111S probably benign Het
Or4d10 C T 19: 12,051,421 (GRCm39) V192I probably benign Het
Or5b107 C A 19: 13,142,767 (GRCm39) P130T probably damaging Het
Plekha5 T A 6: 140,470,621 (GRCm39) H87Q probably damaging Het
Polr3a A G 14: 24,529,256 (GRCm39) V368A probably damaging Het
Psmb8 T A 17: 34,419,168 (GRCm39) L154Q probably damaging Het
Rab40c A C 17: 26,103,644 (GRCm39) C140G probably damaging Het
Ranbp17 G A 11: 33,437,689 (GRCm39) T183I probably benign Het
Ruvbl2 T C 7: 45,078,122 (GRCm39) E117G probably damaging Het
Serpinb3b T A 1: 107,082,368 (GRCm39) M299L probably benign Het
Smpdl3a A G 10: 57,678,530 (GRCm39) H111R probably damaging Het
Sspo C A 6: 48,452,821 (GRCm39) P2843H probably damaging Het
Stk39 T C 2: 68,144,908 (GRCm39) T389A probably benign Het
Synrg T A 11: 83,910,531 (GRCm39) F1000Y probably benign Het
Thbs2 C T 17: 14,908,076 (GRCm39) S229N probably benign Het
Thsd1 G A 8: 22,742,247 (GRCm39) C305Y probably damaging Het
Ticrr C A 7: 79,344,297 (GRCm39) D1387E probably benign Het
Tmem145 G T 7: 25,010,816 (GRCm39) A383S probably damaging Het
Tmprss4 A G 9: 45,090,718 (GRCm39) V187A probably damaging Het
Unc13c T A 9: 73,600,524 (GRCm39) M1407L probably benign Het
Vps39 C T 2: 120,153,609 (GRCm39) G655D probably benign Het
Wwtr1 T C 3: 57,482,241 (GRCm39) probably benign Het
Xrn1 T C 9: 95,930,397 (GRCm39) S1535P probably damaging Het
Other mutations in Arhgap31
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00741:Arhgap31 APN 16 38,423,363 (GRCm39) missense probably damaging 1.00
IGL01062:Arhgap31 APN 16 38,421,818 (GRCm39) missense probably damaging 1.00
IGL01152:Arhgap31 APN 16 38,422,601 (GRCm39) missense possibly damaging 0.49
IGL01680:Arhgap31 APN 16 38,423,976 (GRCm39) missense probably benign 0.04
IGL01739:Arhgap31 APN 16 38,423,793 (GRCm39) missense probably benign
IGL01870:Arhgap31 APN 16 38,438,604 (GRCm39) missense probably damaging 1.00
IGL01981:Arhgap31 APN 16 38,421,935 (GRCm39) missense probably damaging 1.00
IGL01983:Arhgap31 APN 16 38,422,127 (GRCm39) missense probably damaging 1.00
IGL02157:Arhgap31 APN 16 38,444,263 (GRCm39) missense probably damaging 1.00
IGL02629:Arhgap31 APN 16 38,429,526 (GRCm39) missense probably benign 0.00
IGL03375:Arhgap31 APN 16 38,423,190 (GRCm39) missense probably damaging 1.00
PIT4283001:Arhgap31 UTSW 16 38,429,354 (GRCm39) missense probably damaging 1.00
R0271:Arhgap31 UTSW 16 38,422,872 (GRCm39) missense possibly damaging 0.61
R1325:Arhgap31 UTSW 16 38,423,304 (GRCm39) missense probably benign 0.00
R1753:Arhgap31 UTSW 16 38,421,974 (GRCm39) missense possibly damaging 0.92
R1766:Arhgap31 UTSW 16 38,445,952 (GRCm39) missense probably damaging 1.00
R1834:Arhgap31 UTSW 16 38,424,065 (GRCm39) missense probably benign 0.02
R2104:Arhgap31 UTSW 16 38,445,941 (GRCm39) missense probably benign 0.03
R2261:Arhgap31 UTSW 16 38,429,639 (GRCm39) missense probably damaging 1.00
R3011:Arhgap31 UTSW 16 38,422,269 (GRCm39) missense possibly damaging 0.58
R3712:Arhgap31 UTSW 16 38,422,895 (GRCm39) missense possibly damaging 0.91
R3757:Arhgap31 UTSW 16 38,457,362 (GRCm39) missense probably damaging 1.00
R3953:Arhgap31 UTSW 16 38,423,826 (GRCm39) missense probably benign 0.00
R4105:Arhgap31 UTSW 16 38,422,788 (GRCm39) missense probably damaging 1.00
R4107:Arhgap31 UTSW 16 38,422,788 (GRCm39) missense probably damaging 1.00
R4108:Arhgap31 UTSW 16 38,422,788 (GRCm39) missense probably damaging 1.00
R4109:Arhgap31 UTSW 16 38,422,788 (GRCm39) missense probably damaging 1.00
R4198:Arhgap31 UTSW 16 38,444,275 (GRCm39) missense probably damaging 1.00
R4200:Arhgap31 UTSW 16 38,444,275 (GRCm39) missense probably damaging 1.00
R4273:Arhgap31 UTSW 16 38,422,697 (GRCm39) missense possibly damaging 0.92
R5020:Arhgap31 UTSW 16 38,423,438 (GRCm39) missense probably damaging 1.00
R5100:Arhgap31 UTSW 16 38,421,821 (GRCm39) missense probably damaging 1.00
R6516:Arhgap31 UTSW 16 38,429,766 (GRCm39) missense possibly damaging 0.47
R6879:Arhgap31 UTSW 16 38,422,676 (GRCm39) missense probably benign
R7341:Arhgap31 UTSW 16 38,532,876 (GRCm39) splice site probably null
R7880:Arhgap31 UTSW 16 38,423,087 (GRCm39) missense probably benign 0.37
R7884:Arhgap31 UTSW 16 38,422,593 (GRCm39) missense probably damaging 0.97
R8156:Arhgap31 UTSW 16 38,445,991 (GRCm39) missense probably damaging 1.00
R8223:Arhgap31 UTSW 16 38,424,084 (GRCm39) missense probably benign 0.21
R8413:Arhgap31 UTSW 16 38,423,283 (GRCm39) missense possibly damaging 0.76
R8545:Arhgap31 UTSW 16 38,423,408 (GRCm39) missense probably damaging 0.98
R8679:Arhgap31 UTSW 16 38,422,966 (GRCm39) missense probably damaging 0.97
R8721:Arhgap31 UTSW 16 38,427,058 (GRCm39) missense probably benign
R8815:Arhgap31 UTSW 16 38,429,790 (GRCm39) missense probably benign
R9056:Arhgap31 UTSW 16 38,427,017 (GRCm39) missense probably benign 0.00
R9077:Arhgap31 UTSW 16 38,422,730 (GRCm39) missense probably damaging 0.98
R9251:Arhgap31 UTSW 16 38,423,218 (GRCm39) missense probably benign
R9382:Arhgap31 UTSW 16 38,422,988 (GRCm39) missense probably benign 0.14
R9500:Arhgap31 UTSW 16 38,460,683 (GRCm39) missense probably damaging 1.00
R9544:Arhgap31 UTSW 16 38,423,976 (GRCm39) missense probably damaging 0.99
X0063:Arhgap31 UTSW 16 38,422,760 (GRCm39) missense probably damaging 0.99
Z1176:Arhgap31 UTSW 16 38,444,255 (GRCm39) missense possibly damaging 0.95
Posted On 2014-05-07