Incidental Mutation 'IGL02834:Arhgap10'
ID361561
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Arhgap10
Ensembl Gene ENSMUSG00000037148
Gene NameRho GTPase activating protein 10
SynonymsPSGAP-m, A930033B01Rik, PSGAP-s
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.126) question?
Stock #IGL02834
Quality Score
Status
Chromosome8
Chromosomal Location77250366-77517953 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 77365100 bp
ZygosityHeterozygous
Amino Acid Change Leucine to Glutamine at position 430 (L430Q)
Ref Sequence ENSEMBL: ENSMUSP00000147485 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000076316] [ENSMUST00000210519] [ENSMUST00000210922]
Predicted Effect probably damaging
Transcript: ENSMUST00000076316
AA Change: L430Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000075658
Gene: ENSMUSG00000037148
AA Change: L430Q

DomainStartEndE-ValueType
Pfam:BAR_3 6 249 3.3e-91 PFAM
PH 266 374 1.93e-6 SMART
RhoGAP 393 571 1.66e-63 SMART
low complexity region 633 649 N/A INTRINSIC
SH3 731 786 1.91e-13 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000209499
Predicted Effect probably damaging
Transcript: ENSMUST00000210519
AA Change: L408Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000210922
AA Change: L430Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for an ENU-induced allele exhibit paraparesis, ataxic hindlimbs and splaying of hindlimbs. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 26 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A530099J19Rik A T 13: 19,729,875 noncoding transcript Het
Cc2d2a C T 5: 43,714,521 R900* probably null Het
Cd14 A G 18: 36,725,503 Y300H probably benign Het
Dgcr8 T A 16: 18,272,759 T584S probably benign Het
Epb41l5 C T 1: 119,623,955 G100D probably benign Het
Fat4 G A 3: 38,956,744 G1998R probably damaging Het
Fndc3b A T 3: 27,508,503 L279H probably damaging Het
Gabrr1 A G 4: 33,151,426 E114G probably damaging Het
Hrh2 A G 13: 54,215,000 R332G probably benign Het
Kif5a T C 10: 127,245,756 I180V probably benign Het
Lyg2 T A 1: 37,909,967 R105W probably damaging Het
Myc A G 15: 61,987,666 I64V probably damaging Het
Nrcam G A 12: 44,541,075 probably null Het
Ogdhl A G 14: 32,325,946 Y51C probably damaging Het
Olfr1339 C T 4: 118,734,606 L26F probably benign Het
Olfr631 T A 7: 103,929,394 C190* probably null Het
Pdlim3 A G 8: 45,917,532 R290G probably benign Het
Ppm1l G A 3: 69,549,343 A198T probably damaging Het
Prkd2 A G 7: 16,845,934 D119G probably damaging Het
Rapgef3 A T 15: 97,748,265 I820N probably damaging Het
Scnn1b A G 7: 121,912,062 Y324C probably damaging Het
Smc5 G A 19: 23,257,604 R289C probably benign Het
Vmn2r51 T A 7: 10,098,136 R508* probably null Het
Vps13c A T 9: 67,937,855 I2074L probably benign Het
Wdr64 T C 1: 175,805,849 probably benign Het
Ydjc C T 16: 17,147,289 P74L probably benign Het
Other mutations in Arhgap10
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01529:Arhgap10 APN 8 77346291 missense possibly damaging 0.80
IGL01689:Arhgap10 APN 8 77411134 splice site probably benign
IGL01802:Arhgap10 APN 8 77420085 missense probably damaging 0.99
IGL01832:Arhgap10 APN 8 77259129 missense probably benign 0.00
IGL02291:Arhgap10 APN 8 77382715 splice site probably benign
IGL02928:Arhgap10 APN 8 77250910 unclassified probably benign
IGL03149:Arhgap10 APN 8 77409538 splice site probably benign
IGL03215:Arhgap10 APN 8 77277152 missense probably benign
IGL03331:Arhgap10 APN 8 77420082 missense probably damaging 0.99
R0276:Arhgap10 UTSW 8 77413581 missense probably benign 0.11
R0376:Arhgap10 UTSW 8 77450824 splice site probably benign
R0454:Arhgap10 UTSW 8 77250965 missense probably damaging 0.97
R0714:Arhgap10 UTSW 8 77351687 splice site probably benign
R1033:Arhgap10 UTSW 8 77257347 missense possibly damaging 0.80
R1036:Arhgap10 UTSW 8 77310769 missense probably damaging 0.98
R1083:Arhgap10 UTSW 8 77517749 missense probably damaging 1.00
R1596:Arhgap10 UTSW 8 77450697 missense possibly damaging 0.93
R1710:Arhgap10 UTSW 8 77358587 nonsense probably null
R1918:Arhgap10 UTSW 8 77259079 missense probably benign
R1937:Arhgap10 UTSW 8 77344653 missense probably damaging 1.00
R1959:Arhgap10 UTSW 8 77409626 missense possibly damaging 0.78
R2348:Arhgap10 UTSW 8 77450926 splice site probably benign
R3703:Arhgap10 UTSW 8 77259056 critical splice donor site probably null
R3979:Arhgap10 UTSW 8 77420725 missense probably benign 0.01
R4854:Arhgap10 UTSW 8 77420089 nonsense probably null
R4855:Arhgap10 UTSW 8 77432738 critical splice donor site probably null
R4928:Arhgap10 UTSW 8 77426328 critical splice donor site probably null
R5033:Arhgap10 UTSW 8 77382757 missense probably damaging 0.99
R5532:Arhgap10 UTSW 8 77420072 missense probably benign 0.19
R5644:Arhgap10 UTSW 8 77411055 missense probably benign 0.00
R5781:Arhgap10 UTSW 8 77450707 missense possibly damaging 0.56
R5824:Arhgap10 UTSW 8 77358552 nonsense probably null
R5861:Arhgap10 UTSW 8 77310764 missense probably damaging 1.00
R5872:Arhgap10 UTSW 8 77344638 critical splice donor site probably null
R6360:Arhgap10 UTSW 8 77259202 nonsense probably null
R6423:Arhgap10 UTSW 8 77517757 missense probably damaging 1.00
R6694:Arhgap10 UTSW 8 77411063 missense probably benign 0.00
R6900:Arhgap10 UTSW 8 77310862 missense probably damaging 1.00
R6936:Arhgap10 UTSW 8 77310747 nonsense probably null
R7001:Arhgap10 UTSW 8 77365088 missense possibly damaging 0.51
R7150:Arhgap10 UTSW 8 77250954 missense probably damaging 1.00
Posted On2015-12-18