Incidental Mutation 'IGL01981:Arhgap31'
ID183478
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Arhgap31
Ensembl Gene ENSMUSG00000022799
Gene NameRho GTPase activating protein 31
SynonymsCdGAP
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.224) question?
Stock #IGL01981
Quality Score
Status
Chromosome16
Chromosomal Location38598340-38713274 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 38601573 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Isoleucine at position 1377 (T1377I)
Ref Sequence ENSEMBL: ENSMUSP00000023487 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023487]
Predicted Effect probably damaging
Transcript: ENSMUST00000023487
AA Change: T1377I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000023487
Gene: ENSMUSG00000022799
AA Change: T1377I

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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921501E09Rik C T 17: 33,067,654 G58E probably damaging Het
Akt2 A C 7: 27,638,074 D417A probably benign Het
Ap1b1 T A 11: 5,019,336 S231T possibly damaging Het
Cdkl3 A G 11: 52,005,069 T48A probably benign Het
Chd3 T C 11: 69,360,675 Y510C probably damaging Het
Chml A G 1: 175,688,185 S57P probably damaging Het
Cpxm1 G T 2: 130,394,140 C367* probably null Het
D930020B18Rik A G 10: 121,692,414 T428A probably damaging Het
Dnaja3 A T 16: 4,701,169 I325F probably damaging Het
Erbb3 A G 10: 128,571,650 V943A probably benign Het
Fam110b A G 4: 5,799,481 I300V probably benign Het
Fam193a A G 5: 34,431,193 E76G probably damaging Het
Fbxl3 G A 14: 103,095,464 T26M possibly damaging Het
Furin A G 7: 80,392,899 L380P probably damaging Het
Fxr2 A C 11: 69,650,502 I354L possibly damaging Het
Garnl3 G T 2: 32,997,729 N756K probably damaging Het
Gimap1 A G 6: 48,743,324 Y290C probably damaging Het
Gm11639 A T 11: 104,721,432 probably benign Het
Gm5592 G A 7: 41,286,371 W99* probably null Het
Hexdc G T 11: 121,216,993 S183I possibly damaging Het
Hmg20a C T 9: 56,477,230 P95S probably damaging Het
Jhy A T 9: 40,895,546 I769N probably damaging Het
Lrrd1 G T 5: 3,851,267 C524F probably damaging Het
Musk C A 4: 58,296,629 S76R probably damaging Het
Myom3 C T 4: 135,785,849 R613* probably null Het
Naa16 T A 14: 79,381,516 E172D probably benign Het
Obox6 A T 7: 15,834,921 M10K possibly damaging Het
Olfr1039 A T 2: 86,130,830 Y278N probably benign Het
Pam C T 1: 97,834,441 V700M probably damaging Het
Pkd1l2 C A 8: 117,016,916 R1978L probably benign Het
Pkhd1 T A 1: 20,523,567 T1441S possibly damaging Het
Plg A G 17: 12,403,047 probably benign Het
Pot1a A G 6: 25,750,100 L521P probably damaging Het
Pramef17 G A 4: 143,994,354 P6S probably damaging Het
Ptprj A T 2: 90,439,912 V1280E probably damaging Het
Rcbtb2 T C 14: 73,164,782 S136P possibly damaging Het
Rtl1 C T 12: 109,591,935 E1157K possibly damaging Het
Sell G A 1: 164,065,626 R137Q probably benign Het
Shisa9 A T 16: 12,244,658 M248L probably benign Het
Spag17 A G 3: 100,058,833 E1144G probably benign Het
Sphk2 G T 7: 45,710,733 Q616K probably benign Het
Tecrl T C 5: 83,294,606 T207A probably benign Het
Ubr5 T C 15: 37,996,598 T1885A probably benign Het
Usp24 T C 4: 106,375,768 probably benign Het
Usp32 A G 11: 85,036,524 M622T probably benign Het
Vangl1 A G 3: 102,184,291 F160L probably damaging Het
Vps13d T C 4: 145,086,747 S3289G probably damaging Het
Wdfy4 A G 14: 33,133,716 F647S probably damaging Het
Wdhd1 A G 14: 47,261,450 L509P probably damaging Het
Zcchc2 A G 1: 106,027,499 E640G probably damaging Het
Zfp563 T A 17: 33,105,409 I326N probably benign Het
Other mutations in Arhgap31
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00741:Arhgap31 APN 16 38603001 missense probably damaging 1.00
IGL01062:Arhgap31 APN 16 38601456 missense probably damaging 1.00
IGL01152:Arhgap31 APN 16 38602239 missense possibly damaging 0.49
IGL01680:Arhgap31 APN 16 38603614 missense probably benign 0.04
IGL01739:Arhgap31 APN 16 38603431 missense probably benign
IGL01870:Arhgap31 APN 16 38618242 missense probably damaging 1.00
IGL01936:Arhgap31 APN 16 38602925 missense probably damaging 1.00
IGL01983:Arhgap31 APN 16 38601765 missense probably damaging 1.00
IGL02157:Arhgap31 APN 16 38623901 missense probably damaging 1.00
IGL02629:Arhgap31 APN 16 38609164 missense probably benign 0.00
IGL03375:Arhgap31 APN 16 38602828 missense probably damaging 1.00
PIT4283001:Arhgap31 UTSW 16 38608992 missense probably damaging 1.00
R0271:Arhgap31 UTSW 16 38602510 missense possibly damaging 0.61
R1325:Arhgap31 UTSW 16 38602942 missense probably benign 0.00
R1753:Arhgap31 UTSW 16 38601612 missense possibly damaging 0.92
R1766:Arhgap31 UTSW 16 38625590 missense probably damaging 1.00
R1834:Arhgap31 UTSW 16 38603703 missense probably benign 0.02
R2104:Arhgap31 UTSW 16 38625579 missense probably benign 0.03
R2261:Arhgap31 UTSW 16 38609277 missense probably damaging 1.00
R3011:Arhgap31 UTSW 16 38601907 missense possibly damaging 0.58
R3712:Arhgap31 UTSW 16 38602533 missense possibly damaging 0.91
R3757:Arhgap31 UTSW 16 38637000 missense probably damaging 1.00
R3953:Arhgap31 UTSW 16 38603464 missense probably benign 0.00
R4105:Arhgap31 UTSW 16 38602426 missense probably damaging 1.00
R4107:Arhgap31 UTSW 16 38602426 missense probably damaging 1.00
R4108:Arhgap31 UTSW 16 38602426 missense probably damaging 1.00
R4109:Arhgap31 UTSW 16 38602426 missense probably damaging 1.00
R4198:Arhgap31 UTSW 16 38623913 missense probably damaging 1.00
R4200:Arhgap31 UTSW 16 38623913 missense probably damaging 1.00
R4273:Arhgap31 UTSW 16 38602335 missense possibly damaging 0.92
R5020:Arhgap31 UTSW 16 38603076 missense probably damaging 1.00
R5100:Arhgap31 UTSW 16 38601459 missense probably damaging 1.00
R6516:Arhgap31 UTSW 16 38609404 missense possibly damaging 0.47
R6879:Arhgap31 UTSW 16 38602314 missense probably benign
R7341:Arhgap31 UTSW 16 38712514 intron probably null
R7880:Arhgap31 UTSW 16 38602725 missense probably benign 0.37
R7884:Arhgap31 UTSW 16 38602231 missense probably damaging 0.97
R7963:Arhgap31 UTSW 16 38602725 missense probably benign 0.37
R7967:Arhgap31 UTSW 16 38602231 missense probably damaging 0.97
R8156:Arhgap31 UTSW 16 38625629 missense probably damaging 1.00
X0063:Arhgap31 UTSW 16 38602398 missense probably damaging 0.99
Z1176:Arhgap31 UTSW 16 38623893 missense possibly damaging 0.95
Posted On2014-05-07