Incidental Mutation 'R0515:Arhgap11a'
ID 48175
Institutional Source Beutler Lab
Gene Symbol Arhgap11a
Ensembl Gene ENSMUSG00000041219
Gene Name Rho GTPase activating protein 11A
Synonyms GAP (1-12), 6530401L14Rik
MMRRC Submission 038709-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0515 (G1)
Quality Score 208
Status Validated
Chromosome 2
Chromosomal Location 113661837-113679006 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 113667816 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Isoleucine at position 395 (T395I)
Ref Sequence ENSEMBL: ENSMUSP00000106574 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000102545] [ENSMUST00000110947] [ENSMUST00000110948] [ENSMUST00000110949]
AlphaFold Q80Y19
Predicted Effect possibly damaging
Transcript: ENSMUST00000102545
AA Change: T395I

PolyPhen 2 Score 0.482 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000099604
Gene: ENSMUSG00000041219
AA Change: T395I

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 probably benign
Transcript: ENSMUST00000110947
AA Change: T395I

PolyPhen 2 Score 0.034 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000106572
Gene: ENSMUSG00000041219
AA Change: T395I

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 probably benign
Transcript: ENSMUST00000110948
AA Change: T395I

PolyPhen 2 Score 0.034 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000106573
Gene: ENSMUSG00000041219
AA Change: T395I

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: T395I

PolyPhen 2 Score 0.482 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000106574
Gene: ENSMUSG00000041219
AA Change: T395I

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
Meta Mutation Damage Score 0.1795 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.3%
  • 20x: 92.6%
Validation Efficiency 98% (40/41)
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: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
App C T 16: 84,900,232 (GRCm39) probably benign Het
Arhgef38 T G 3: 132,855,301 (GRCm39) H262P probably damaging Het
Cd96 A G 16: 45,884,268 (GRCm39) probably benign Het
Cfap57 A G 4: 118,477,599 (GRCm39) S2P probably damaging Het
Cltc A G 11: 86,599,865 (GRCm39) S948P probably benign Het
Cyp3a41a A T 5: 145,654,810 (GRCm39) H30Q probably damaging Het
Dcp2 C T 18: 44,532,798 (GRCm39) L105F probably benign Het
Dennd4c T C 4: 86,731,703 (GRCm39) V887A possibly damaging Het
Dnaaf9 A G 2: 130,582,408 (GRCm39) V515A probably damaging Het
Gm11360 T A 13: 28,140,143 (GRCm39) D2E probably damaging Het
Gpank1 G T 17: 35,342,475 (GRCm39) A149S probably damaging Het
Gtf2i C A 5: 134,271,773 (GRCm39) S792I probably damaging Het
Hvcn1 A G 5: 122,371,582 (GRCm39) N41D probably damaging Het
Klk1b5 A G 7: 43,867,957 (GRCm39) Y43C probably damaging Het
Lmtk2 A G 5: 144,111,809 (GRCm39) D843G possibly damaging Het
Lrriq1 A T 10: 102,904,829 (GRCm39) probably null Het
Mapk8ip1 A T 2: 92,217,701 (GRCm39) I198N possibly damaging Het
Mill1 T C 7: 17,998,798 (GRCm39) V336A probably benign Het
Mroh7 T A 4: 106,548,861 (GRCm39) M1001L probably benign Het
Nfe2 T A 15: 103,157,854 (GRCm39) T46S probably null Het
Or8b40 T C 9: 38,027,313 (GRCm39) S74P probably damaging Het
Or9q1 T C 19: 13,805,185 (GRCm39) S192G probably damaging Het
Parp4 T C 14: 56,851,124 (GRCm39) V709A probably damaging Het
Pkd1l3 C G 8: 110,350,281 (GRCm39) D375E possibly damaging Het
Prex2 A T 1: 11,270,098 (GRCm39) Q1261L probably damaging Het
Prl8a8 T A 13: 27,692,350 (GRCm39) I214L probably damaging Het
Rictor C T 15: 6,798,782 (GRCm39) T343M probably damaging Het
Sema6a G A 18: 47,423,112 (GRCm39) probably null Het
Siglecf T C 7: 43,005,055 (GRCm39) probably null Het
Slco1b2 T C 6: 141,615,136 (GRCm39) F347S possibly damaging Het
Sox13 A T 1: 133,311,457 (GRCm39) Y592N probably damaging Het
Synj1 C T 16: 90,790,910 (GRCm39) A84T possibly damaging Het
Tent5b A T 4: 133,213,450 (GRCm39) H107L possibly damaging Het
Trpv5 T A 6: 41,651,145 (GRCm39) probably benign Het
Tshz1 A G 18: 84,034,090 (GRCm39) V106A probably benign Het
Other mutations in Arhgap11a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00155:Arhgap11a APN 2 113,664,601 (GRCm39) missense probably benign 0.00
IGL00337:Arhgap11a APN 2 113,672,287 (GRCm39) missense probably damaging 0.96
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
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
Predicted Primers PCR Primer
(F):5'- TCCTGACTCTACCCTAGAGAGTGCAA -3'
(R):5'- ACCTGAACCCTCTAACCAGAAGTTGT -3'

Sequencing Primer
(F):5'- CCCTAGAGAGTGCAATTGAAAATGTC -3'
(R):5'- ACCAGAAGTTGTACTTTTTGTTGC -3'
Posted On 2013-06-12