Incidental Mutation 'IGL02945:Arhgap11a'
ID364691
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Arhgap11a
Ensembl Gene ENSMUSG00000041219
Gene NameRho GTPase activating protein 11A
SynonymsGAP (1-12), 6530401L14Rik
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02945
Quality Score
Status
Chromosome2
Chromosomal Location113831492-113848661 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 113837473 bp
ZygosityHeterozygous
Amino Acid Change Serine to Arginine at position 394 (S394R)
Ref Sequence ENSEMBL: ENSMUSP00000106573 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000102545] [ENSMUST00000110947] [ENSMUST00000110948] [ENSMUST00000110949]
Predicted Effect possibly damaging
Transcript: ENSMUST00000102545
AA Change: S394R

PolyPhen 2 Score 0.800 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000099604
Gene: ENSMUSG00000041219
AA Change: S394R

DomainStartEndE-ValueType
low complexity region 4 18 N/A INTRINSIC
RhoGAP 63 236 1.97e-47 SMART
Blast:RhoGAP 288 349 3e-20 BLAST
low complexity region 490 501 N/A INTRINSIC
low complexity region 719 738 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000110947
AA Change: S394R

PolyPhen 2 Score 0.827 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000106572
Gene: ENSMUSG00000041219
AA Change: S394R

DomainStartEndE-ValueType
low complexity region 4 18 N/A INTRINSIC
RhoGAP 63 236 1.97e-47 SMART
Blast:RhoGAP 288 349 7e-21 BLAST
Predicted Effect possibly damaging
Transcript: ENSMUST00000110948
AA Change: S394R

PolyPhen 2 Score 0.827 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000106573
Gene: ENSMUSG00000041219
AA Change: S394R

DomainStartEndE-ValueType
low complexity region 4 18 N/A INTRINSIC
RhoGAP 63 236 1.97e-47 SMART
Blast:RhoGAP 288 349 6e-21 BLAST
Predicted Effect possibly damaging
Transcript: ENSMUST00000110949
AA Change: S394R

PolyPhen 2 Score 0.800 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000106574
Gene: ENSMUSG00000041219
AA Change: S394R

DomainStartEndE-ValueType
low complexity region 4 18 N/A INTRINSIC
RhoGAP 63 236 1.97e-47 SMART
Blast:RhoGAP 288 349 3e-20 BLAST
low complexity region 490 501 N/A INTRINSIC
low complexity region 719 738 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 member of the Rho GTPase activating protein family. In response to DNA damage, the encoded protein interacts with the p53 tumor suppressor protein and stimulates its tetramerization, which results in cell-cycle arrest and apoptosis. A chromosomal deletion that includes this gene is one cause of Prader-Willi syndrome, and an intronic variant of this gene may be associated with sleep duration in children. This gene is highly expressed in colon cancers and in a human basal-like breast cancer cell line. [provided by RefSeq, Sep 2016]
Allele List at MGI
Other mutations in this stock
Total: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933411G06Rik A T 10: 51,756,999 noncoding transcript Het
Adgrf4 T C 17: 42,667,366 Q362R probably benign Het
Akap6 A G 12: 52,880,837 N177D probably damaging Het
Alms1 A G 6: 85,620,933 I914V probably damaging Het
Cacna1h C T 17: 25,388,059 V962I probably damaging Het
Calr3 A T 8: 72,438,557 L91Q probably damaging Het
Ccnf T C 17: 24,224,916 E626G probably damaging Het
Clec10a A T 11: 70,170,542 I295F possibly damaging Het
Cop1 A T 1: 159,306,689 N167I probably benign Het
Csmd1 G T 8: 16,271,570 Q505K possibly damaging Het
Ctrc A C 4: 141,846,252 V6G possibly damaging Het
Cyp2c69 T C 19: 39,886,647 R21G possibly damaging Het
Dnah5 A G 15: 28,270,426 H958R probably benign Het
Egfr T A 11: 16,752,514 L11Q probably damaging Het
Erich2 A G 2: 70,534,394 T371A probably damaging Het
Fbxl21 T A 13: 56,527,170 F111L probably damaging Het
Grik4 G T 9: 42,597,879 T416N possibly damaging Het
Grin3a A G 4: 49,792,971 V254A possibly damaging Het
Hat1 G A 2: 71,420,693 R195K probably benign Het
Hmgb4 A C 4: 128,260,594 Y60* probably null Het
Ighv12-3 A G 12: 114,366,717 W53R probably damaging Het
Irs2 C A 8: 11,007,781 C217F probably damaging Het
Kcnb1 T C 2: 167,188,388 E79G probably benign Het
Lingo3 A G 10: 80,834,698 I466T probably damaging Het
Lyst T C 13: 13,761,198 S3665P possibly damaging Het
Myh9 A T 15: 77,762,005 L1926Q probably benign Het
Myom1 A G 17: 71,092,093 probably benign Het
Nbeal1 T C 1: 60,206,410 F198L probably damaging Het
Nktr A G 9: 121,728,631 T63A probably damaging Het
Nle1 A T 11: 82,904,084 probably benign Het
Nr3c2 A T 8: 76,909,659 D463V probably damaging Het
Olfr181 A T 16: 58,926,340 I77N probably damaging Het
Olfr902 A G 9: 38,449,516 I215V probably benign Het
Pcdhb18 T C 18: 37,489,995 I126T probably benign Het
Pgm2 A G 4: 99,961,534 I127V probably benign Het
Rai14 A G 15: 10,574,709 I721T probably benign Het
Rps6ka1 A G 4: 133,867,199 Y57H probably damaging Het
Scara3 T A 14: 65,931,211 D319V probably damaging Het
Selp G A 1: 164,133,929 G404S probably damaging Het
Serinc3 A G 2: 163,630,916 probably benign Het
Slc4a8 A G 15: 100,807,199 probably null Het
Spen G T 4: 141,494,313 L325I unknown Het
Sphkap A T 1: 83,276,831 S779T probably damaging Het
Stxbp2 A T 8: 3,641,971 I538F probably benign Het
Thumpd1 A T 7: 119,716,747 S326R possibly damaging Het
Tmem255b T C 8: 13,455,141 S149P probably damaging Het
Tnni3k A T 3: 155,037,438 S95T possibly damaging Het
Trim66 G A 7: 109,460,176 Q954* probably null Het
Ttn A T 2: 76,751,972 I22859N probably damaging Het
Zfp319 A T 8: 95,323,818 probably benign Het
Other mutations in Arhgap11a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00155:Arhgap11a APN 2 113834256 missense probably benign 0.00
IGL00337:Arhgap11a APN 2 113841942 missense probably damaging 0.96
IGL00532:Arhgap11a APN 2 113834066 missense probably benign
IGL00869:Arhgap11a APN 2 113834826 missense probably damaging 0.99
IGL01123:Arhgap11a APN 2 113834773 splice site probably benign
IGL01353:Arhgap11a APN 2 113833524 missense probably damaging 1.00
IGL01725:Arhgap11a APN 2 113837552 missense probably damaging 0.98
IGL01911:Arhgap11a APN 2 113840732 missense probably damaging 1.00
IGL02077:Arhgap11a APN 2 113837471 missense possibly damaging 0.94
IGL02532:Arhgap11a APN 2 113833676 nonsense probably null
IGL02553:Arhgap11a APN 2 113837561 splice site probably benign
IGL02738:Arhgap11a APN 2 113832975 makesense probably null
R0480:Arhgap11a UTSW 2 113839818 missense probably benign 0.03
R0515:Arhgap11a UTSW 2 113837471 missense possibly damaging 0.48
R0625:Arhgap11a UTSW 2 113841711 missense probably benign 0.01
R0898:Arhgap11a UTSW 2 113836876 missense probably benign 0.01
R1248:Arhgap11a UTSW 2 113834102 missense possibly damaging 0.63
R1395:Arhgap11a UTSW 2 113833122 missense probably benign 0.00
R1669:Arhgap11a UTSW 2 113841912 missense possibly damaging 0.92
R2915:Arhgap11a UTSW 2 113833508 missense probably damaging 1.00
R3941:Arhgap11a UTSW 2 113836897 missense probably damaging 1.00
R4194:Arhgap11a UTSW 2 113841994 missense probably benign 0.02
R4508:Arhgap11a UTSW 2 113842042 missense probably damaging 1.00
R4617:Arhgap11a UTSW 2 113834078 missense probably benign 0.01
R4839:Arhgap11a UTSW 2 113842029 missense probably damaging 1.00
R4842:Arhgap11a UTSW 2 113839762 missense probably damaging 0.98
R5507:Arhgap11a UTSW 2 113841678 missense probably benign
R5538:Arhgap11a UTSW 2 113837530 missense probably benign
R5660:Arhgap11a UTSW 2 113841910 missense possibly damaging 0.80
R5712:Arhgap11a UTSW 2 113845301 missense probably benign 0.09
R5849:Arhgap11a UTSW 2 113834847 missense probably null 0.01
R5856:Arhgap11a UTSW 2 113833771 missense possibly damaging 0.63
R6101:Arhgap11a UTSW 2 113834874 nonsense probably null
R6119:Arhgap11a UTSW 2 113834350 missense probably benign
R6338:Arhgap11a UTSW 2 113833725 missense probably benign 0.37
R6563:Arhgap11a UTSW 2 113833902 missense probably benign 0.00
R6919:Arhgap11a UTSW 2 113839709 missense possibly damaging 0.94
R7798:Arhgap11a UTSW 2 113843335 missense probably damaging 0.98
R7819:Arhgap11a UTSW 2 113834918 critical splice acceptor site probably null
X0065:Arhgap11a UTSW 2 113834231 missense probably benign 0.41
Z1088:Arhgap11a UTSW 2 113842894 missense probably damaging 1.00
Z1176:Arhgap11a UTSW 2 113833758 missense probably benign 0.34
Posted On2015-12-18