Incidental Mutation 'IGL01983:Arhgap31'
ID 183529
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 # IGL01983
Quality Score
Status
Chromosome 16
Chromosomal Location 38418705-38533397 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 38422127 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Glutamine at position 1313 (R1313Q)
Ref Sequence ENSEMBL: ENSMUSP00000023487 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023487]
AlphaFold A6X8Z5
Predicted Effect probably damaging
Transcript: ENSMUST00000023487
AA Change: R1313Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000023487
Gene: ENSMUSG00000022799
AA Change: R1313Q

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: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acadl G A 1: 66,880,783 (GRCm39) Q328* probably null Het
Alpk2 T C 18: 65,483,753 (GRCm39) Y85C probably damaging Het
Chrnb1 G T 11: 69,686,555 (GRCm39) R22S probably benign Het
Clec7a G A 6: 129,442,539 (GRCm39) probably benign Het
Cyrib A G 15: 63,809,236 (GRCm39) S251P probably benign Het
Epb41l5 A G 1: 119,506,814 (GRCm39) probably benign Het
Hdac1-ps T A 17: 78,800,282 (GRCm39) D424E probably benign Het
Hydin A C 8: 111,241,527 (GRCm39) I2106L probably benign Het
Igkv3-5 T A 6: 70,640,670 (GRCm39) D50E probably benign Het
Irf2bp1 G T 7: 18,739,220 (GRCm39) A287S possibly damaging Het
Ldb3 G A 14: 34,299,156 (GRCm39) S156L probably benign Het
Lnpep A T 17: 17,751,440 (GRCm39) W942R probably damaging Het
Mst1r T A 9: 107,794,475 (GRCm39) V1218D probably damaging Het
Naxd G T 8: 11,560,218 (GRCm39) probably benign Het
Nol9 T C 4: 152,130,494 (GRCm39) probably null Het
Nus1 T A 10: 52,312,753 (GRCm39) L295Q probably damaging Het
Nxph2 A G 2: 23,289,946 (GRCm39) I99M probably benign Het
Plekhg1 T A 10: 3,895,904 (GRCm39) I432N probably damaging Het
Pon3 A G 6: 5,240,974 (GRCm39) L69S probably damaging Het
Pram1 C A 17: 33,859,835 (GRCm39) A134D probably damaging Het
Serpinb6c T A 13: 34,081,317 (GRCm39) probably benign Het
Stk10 A T 11: 32,539,460 (GRCm39) E280V probably benign Het
Tbc1d10c T A 19: 4,240,708 (GRCm39) Q34L possibly damaging Het
Tnr G A 1: 159,691,349 (GRCm39) V500I probably benign Het
Trim66 G A 7: 109,057,458 (GRCm39) R992* probably null Het
Unc45b A G 11: 82,827,687 (GRCm39) D728G probably benign Het
Usp13 A G 3: 32,971,608 (GRCm39) D696G probably damaging Het
Utrn C T 10: 12,545,525 (GRCm39) V1707I probably benign Het
Vmn2r96 A T 17: 18,817,527 (GRCm39) H368L probably damaging Het
Xrn1 T C 9: 95,855,421 (GRCm39) probably null Het
Zfhx3 C A 8: 109,673,866 (GRCm39) L1639M probably damaging Het
Znfx1 A T 2: 166,898,270 (GRCm39) V218E 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
IGL01936:Arhgap31 APN 16 38,423,287 (GRCm39) missense probably damaging 1.00
IGL01981:Arhgap31 APN 16 38,421,935 (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