Incidental Mutation 'IGL01870:Arhgap31'
ID178690
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: 0.152) question?
Stock #IGL01870
Quality Score
Status
Chromosome16
Chromosomal Location38598340-38713274 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 38618242 bp
ZygosityHeterozygous
Amino Acid Change Lysine to Glutamic Acid at position 300 (K300E)
Ref Sequence ENSEMBL: ENSMUSP00000023487 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023487]
Predicted Effect probably damaging
Transcript: ENSMUST00000023487
AA Change: K300E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000023487
Gene: ENSMUSG00000022799
AA Change: K300E

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000124866
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
Agtr1a A G 13: 30,381,327 D125G probably damaging Het
Cma2 C A 14: 55,973,737 S162Y probably benign Het
Cntn4 A G 6: 106,489,715 T193A possibly damaging Het
Col22a1 T A 15: 71,952,528 M556L probably benign Het
Dld A G 12: 31,335,467 S292P possibly damaging Het
Dnah6 A T 6: 73,032,569 D3746E probably benign Het
Eea1 A G 10: 95,973,986 T9A probably damaging Het
Fam102a T C 2: 32,566,282 S319P probably benign Het
Gbf1 A G 19: 46,285,669 K1714R probably benign Het
Gm10718 A T 9: 3,025,118 Y194F probably benign Het
Gm12794 T A 4: 101,940,690 L95H probably benign Het
H2-M1 A T 17: 36,670,063 M327K probably benign Het
Ifnz T A 4: 88,783,311 S176T possibly damaging Het
Irak4 T C 15: 94,547,870 Y10H probably benign Het
Irx5 T C 8: 92,359,777 F163L probably damaging Het
Jak3 C T 8: 71,680,790 P376S probably damaging Het
Lrrc25 T C 8: 70,617,787 S73P possibly damaging Het
Macf1 C T 4: 123,474,113 G2285D probably damaging Het
Muc4 A T 16: 32,753,196 T1025S probably benign Het
Mylk2 A G 2: 152,915,214 N303S probably benign Het
Olfr111 G A 17: 37,530,664 R229H probably benign Het
Pcnx T C 12: 81,975,893 V1512A probably benign Het
Phlda3 A G 1: 135,766,638 S64G probably benign Het
Pptc7 C A 5: 122,313,602 S40R probably damaging Het
Ptpn4 A C 1: 119,675,547 probably null Het
Slc10a1 T C 12: 80,960,528 M160V probably benign Het
Stac T C 9: 111,572,332 I349V probably benign Het
Synm A G 7: 67,736,118 S157P possibly damaging Het
Tbc1d9b T C 11: 50,162,088 L924P probably damaging Het
Tcaf2 C T 6: 42,624,477 V883I possibly damaging Het
Upp1 T C 11: 9,125,700 probably null Het
Whamm C T 7: 81,595,974 T726I probably damaging 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
IGL01936:Arhgap31 APN 16 38602925 missense probably damaging 1.00
IGL01981:Arhgap31 APN 16 38601573 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
X0063:Arhgap31 UTSW 16 38602398 missense probably damaging 0.99
Z1176:Arhgap31 UTSW 16 38623893 missense possibly damaging 0.95
Posted On2014-05-07