Incidental Mutation 'IGL00337:Arhgap11a'
ID 7085
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Arhgap11a
Ensembl Gene ENSMUSG00000041219
Gene Name Rho GTPase activating protein 11A
Synonyms GAP (1-12), 6530401L14Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL00337
Quality Score
Status
Chromosome 2
Chromosomal Location 113661837-113679006 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 113672287 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 227 (V227A)
Ref Sequence ENSEMBL: ENSMUSP00000106574 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000102545] [ENSMUST00000110947] [ENSMUST00000110948] [ENSMUST00000110949]
AlphaFold Q80Y19
Predicted Effect probably damaging
Transcript: ENSMUST00000102545
AA Change: V227A

PolyPhen 2 Score 0.964 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000099604
Gene: ENSMUSG00000041219
AA Change: V227A

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: V227A

PolyPhen 2 Score 0.901 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000106572
Gene: ENSMUSG00000041219
AA Change: V227A

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: V227A

PolyPhen 2 Score 0.901 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000106573
Gene: ENSMUSG00000041219
AA Change: V227A

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 probably damaging
Transcript: ENSMUST00000110949
AA Change: V227A

PolyPhen 2 Score 0.964 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000106574
Gene: ENSMUSG00000041219
AA Change: V227A

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: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ap1ar A T 3: 127,614,401 (GRCm39) probably benign Het
Ap1ar A C 3: 127,614,400 (GRCm39) probably benign Het
Apip A T 2: 102,922,257 (GRCm39) T208S probably benign Het
Atrn G T 2: 130,799,999 (GRCm39) V459F probably damaging Het
Cep295 T C 9: 15,237,368 (GRCm39) probably null Het
Cfhr1 A G 1: 139,484,253 (GRCm39) probably benign Het
D5Ertd615e A G 5: 45,320,769 (GRCm39) noncoding transcript Het
Dhx29 A G 13: 113,101,137 (GRCm39) I1227V probably benign Het
Fam98a T C 17: 75,858,742 (GRCm39) D16G probably damaging Het
Frk A G 10: 34,360,239 (GRCm39) D80G probably damaging Het
Gabbr2 A T 4: 46,787,600 (GRCm39) H354Q probably damaging Het
Ggps1 G A 13: 14,228,973 (GRCm39) S70L probably damaging Het
Gm4553 T C 7: 141,718,964 (GRCm39) S155G unknown Het
Hpx T C 7: 105,240,977 (GRCm39) Y432C probably damaging Het
Hyal2 T C 9: 107,449,371 (GRCm39) C376R probably damaging Het
Il10rb G A 16: 91,203,227 (GRCm39) A8T probably benign Het
Ing5 G T 1: 93,733,816 (GRCm39) M1I probably null Het
Kcnc4 C T 3: 107,355,189 (GRCm39) D420N probably benign Het
Kcnj8 T C 6: 142,515,961 (GRCm39) N49D probably damaging Het
Kif26b C A 1: 178,743,213 (GRCm39) A656D probably damaging Het
Klc4 T C 17: 46,946,361 (GRCm39) E488G probably damaging Het
Mtmr4 C T 11: 87,502,750 (GRCm39) H878Y probably benign Het
Ndufaf7 T C 17: 79,254,520 (GRCm39) probably benign Het
Nlrp14 T G 7: 106,781,308 (GRCm39) D168E possibly damaging Het
Ogdhl T C 14: 32,055,669 (GRCm39) F251S probably damaging Het
Or1p1 T C 11: 74,180,213 (GRCm39) V247A probably damaging Het
P2rx5 A T 11: 73,058,318 (GRCm39) probably null Het
Parp14 G A 16: 35,661,445 (GRCm39) T1501I probably benign Het
Prl3c1 C A 13: 27,384,746 (GRCm39) T85K probably damaging Het
Psg27 A G 7: 18,295,729 (GRCm39) Y239H probably damaging Het
Pzp T C 6: 128,493,872 (GRCm39) R300G probably benign Het
Sec16a A G 2: 26,329,499 (GRCm39) S839P probably benign Het
Sphkap T A 1: 83,317,329 (GRCm39) D56V probably damaging Het
Srrt C T 5: 137,294,240 (GRCm39) probably benign Het
Sstr3 T A 15: 78,424,667 (GRCm39) T27S probably benign Het
Taf1d C A 9: 15,222,899 (GRCm39) S255Y probably damaging Het
Tbc1d15 C A 10: 115,045,546 (GRCm39) E473* probably null Het
Tmem247 T C 17: 87,224,963 (GRCm39) V24A probably benign Het
Txnrd2 T C 16: 18,296,519 (GRCm39) C494R probably damaging Het
Zfp180 A G 7: 23,784,894 (GRCm39) D5G probably damaging Het
Other mutations in Arhgap11a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00155:Arhgap11a APN 2 113,664,601 (GRCm39) missense probably benign 0.00
IGL00532:Arhgap11a APN 2 113,664,411 (GRCm39) missense probably benign
IGL00869:Arhgap11a APN 2 113,665,171 (GRCm39) missense probably damaging 0.99
IGL01123:Arhgap11a APN 2 113,665,118 (GRCm39) splice site probably benign
IGL01353:Arhgap11a APN 2 113,663,869 (GRCm39) missense probably damaging 1.00
IGL01725:Arhgap11a APN 2 113,667,897 (GRCm39) missense probably damaging 0.98
IGL01911:Arhgap11a APN 2 113,671,077 (GRCm39) missense probably damaging 1.00
IGL02077:Arhgap11a APN 2 113,667,816 (GRCm39) missense possibly damaging 0.94
IGL02532:Arhgap11a APN 2 113,664,021 (GRCm39) nonsense probably null
IGL02553:Arhgap11a APN 2 113,667,906 (GRCm39) splice site probably benign
IGL02738:Arhgap11a APN 2 113,663,320 (GRCm39) makesense probably null
IGL02945:Arhgap11a APN 2 113,667,818 (GRCm39) missense possibly damaging 0.83
R0480:Arhgap11a UTSW 2 113,670,163 (GRCm39) missense probably benign 0.03
R0515:Arhgap11a UTSW 2 113,667,816 (GRCm39) missense possibly damaging 0.48
R0625:Arhgap11a UTSW 2 113,672,056 (GRCm39) missense probably benign 0.01
R0898:Arhgap11a UTSW 2 113,667,221 (GRCm39) missense probably benign 0.01
R1248:Arhgap11a UTSW 2 113,664,447 (GRCm39) missense possibly damaging 0.63
R1395:Arhgap11a UTSW 2 113,663,467 (GRCm39) missense probably benign 0.00
R1669:Arhgap11a UTSW 2 113,672,257 (GRCm39) missense possibly damaging 0.92
R2915:Arhgap11a UTSW 2 113,663,853 (GRCm39) missense probably damaging 1.00
R3941:Arhgap11a UTSW 2 113,667,242 (GRCm39) missense probably damaging 1.00
R4194:Arhgap11a UTSW 2 113,672,339 (GRCm39) missense probably benign 0.02
R4508:Arhgap11a UTSW 2 113,672,387 (GRCm39) missense probably damaging 1.00
R4617:Arhgap11a UTSW 2 113,664,423 (GRCm39) missense probably benign 0.01
R4839:Arhgap11a UTSW 2 113,672,374 (GRCm39) missense probably damaging 1.00
R4842:Arhgap11a UTSW 2 113,670,107 (GRCm39) missense probably damaging 0.98
R5507:Arhgap11a UTSW 2 113,672,023 (GRCm39) missense probably benign
R5538:Arhgap11a UTSW 2 113,667,875 (GRCm39) missense probably benign
R5660:Arhgap11a UTSW 2 113,672,255 (GRCm39) missense possibly damaging 0.80
R5712:Arhgap11a UTSW 2 113,675,646 (GRCm39) missense probably benign 0.09
R5849:Arhgap11a UTSW 2 113,665,192 (GRCm39) missense probably null 0.01
R5856:Arhgap11a UTSW 2 113,664,116 (GRCm39) missense possibly damaging 0.63
R6101:Arhgap11a UTSW 2 113,665,219 (GRCm39) nonsense probably null
R6119:Arhgap11a UTSW 2 113,664,695 (GRCm39) missense probably benign
R6338:Arhgap11a UTSW 2 113,664,070 (GRCm39) missense probably benign 0.37
R6563:Arhgap11a UTSW 2 113,664,247 (GRCm39) missense probably benign 0.00
R6919:Arhgap11a UTSW 2 113,670,054 (GRCm39) missense possibly damaging 0.94
R7798:Arhgap11a UTSW 2 113,673,680 (GRCm39) missense probably damaging 0.98
R7819:Arhgap11a UTSW 2 113,665,263 (GRCm39) critical splice acceptor site probably null
R8208:Arhgap11a UTSW 2 113,673,284 (GRCm39) missense probably benign 0.10
R8806:Arhgap11a UTSW 2 113,665,107 (GRCm39) missense possibly damaging 0.96
R9026:Arhgap11a UTSW 2 113,664,411 (GRCm39) missense probably benign 0.01
R9150:Arhgap11a UTSW 2 113,673,614 (GRCm39) missense possibly damaging 0.81
R9428:Arhgap11a UTSW 2 113,667,279 (GRCm39) missense probably benign
R9578:Arhgap11a UTSW 2 113,670,125 (GRCm39) missense possibly damaging 0.95
X0065:Arhgap11a UTSW 2 113,664,576 (GRCm39) missense probably benign 0.41
Z1088:Arhgap11a UTSW 2 113,673,239 (GRCm39) missense probably damaging 1.00
Z1176:Arhgap11a UTSW 2 113,664,103 (GRCm39) missense probably benign 0.34
Posted On 2012-04-20