Incidental Mutation 'R6119:Arhgap11a'
ID 485641
Institutional Source Beutler Lab
Gene Symbol Arhgap11a
Ensembl Gene ENSMUSG00000041219
Gene Name Rho GTPase activating protein 11A
Synonyms GAP (1-12), 6530401L14Rik
MMRRC Submission 044429-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6119 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 113661837-113679006 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 113664695 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Isoleucine at position 529 (M529I)
Ref Sequence ENSEMBL: ENSMUSP00000106574 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000102545] [ENSMUST00000110947] [ENSMUST00000110948] [ENSMUST00000110949]
AlphaFold Q80Y19
Predicted Effect probably benign
Transcript: ENSMUST00000102545
AA Change: M529I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000099604
Gene: ENSMUSG00000041219
AA Change: M529I

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
SMART Domains Protein: ENSMUSP00000106572
Gene: ENSMUSG00000041219

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
SMART Domains Protein: ENSMUSP00000106573
Gene: ENSMUSG00000041219

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 benign
Transcript: ENSMUST00000110949
AA Change: M529I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000106574
Gene: ENSMUSG00000041219
AA Change: M529I

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 0.0898 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.7%
  • 20x: 93.2%
Validation Efficiency 100% (53/53)
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: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310022A10Rik C T 7: 27,265,138 (GRCm39) R97* probably null Het
4930544D05Rik G A 11: 70,507,317 (GRCm39) A121T probably damaging Het
Abtb2 A T 2: 103,532,655 (GRCm39) E484D probably benign Het
Ankk1 A T 9: 49,338,183 (GRCm39) W37R possibly damaging Het
Btd G A 14: 31,363,065 (GRCm39) probably benign Het
Ddx47 T C 6: 135,000,318 (GRCm39) I438T probably benign Het
Dnhd1 A G 7: 105,358,647 (GRCm39) T3379A probably benign Het
Dusp3 A G 11: 101,871,495 (GRCm39) probably benign Het
Dync1h1 A G 12: 110,594,440 (GRCm39) K1289E possibly damaging Het
Egf A T 3: 129,530,421 (GRCm39) I247N probably benign Het
Erich1 A G 8: 14,083,692 (GRCm39) L126P probably benign Het
Fat3 T A 9: 16,287,864 (GRCm39) H553L possibly damaging Het
Gdpgp1 T C 7: 79,888,740 (GRCm39) L257P probably damaging Het
Gimap8 T C 6: 48,635,888 (GRCm39) I551T possibly damaging Het
Gnptab C A 10: 88,267,257 (GRCm39) D449E probably damaging Het
Grb10 T C 11: 11,883,551 (GRCm39) D513G probably damaging Het
Grin1 T G 2: 25,195,170 (GRCm39) D283A probably damaging Het
Gtf2i A T 5: 134,315,911 (GRCm39) probably null Het
Ip6k3 A G 17: 27,367,599 (GRCm39) V199A possibly damaging Het
Kif17 T A 4: 138,015,643 (GRCm39) Y405* probably null Het
Lair1 T C 7: 4,031,895 (GRCm39) M71V probably benign Het
Mamdc2 G A 19: 23,330,679 (GRCm39) T376M probably damaging Het
Msra G A 14: 64,678,183 (GRCm39) R38C probably damaging Het
Mthfd1 A T 12: 76,350,447 (GRCm39) I462F probably damaging Het
Nbr1 A G 11: 101,457,938 (GRCm39) probably null Het
Neb A G 2: 52,110,943 (GRCm39) M181T probably benign Het
Noxo1 A G 17: 24,915,545 (GRCm39) probably benign Het
Optn C A 2: 5,026,134 (GRCm39) probably null Het
Or10ag58 A T 2: 87,265,733 (GRCm39) K301* probably null Het
Or4c103 A G 2: 88,513,935 (GRCm39) I47T probably damaging Het
Or5k17 A T 16: 58,746,895 (GRCm39) I13N possibly damaging Het
Or6c215 G A 10: 129,637,689 (GRCm39) A235V probably damaging Het
Or6c215 C A 10: 129,637,690 (GRCm39) A235S probably damaging Het
Pclo A G 5: 14,727,033 (GRCm39) probably benign Het
Ppp1r16b A G 2: 158,593,047 (GRCm39) I209V probably benign Het
Prss12 A G 3: 123,283,258 (GRCm39) I517V possibly damaging Het
Pwwp3a A G 10: 80,064,865 (GRCm39) K32E probably benign Het
Ripor2 C T 13: 24,798,627 (GRCm39) probably benign Het
Rmnd5b A G 11: 51,516,536 (GRCm39) S274P probably benign Het
Sftpa1 T A 14: 40,854,509 (GRCm39) I32N probably damaging Het
Slc2a12 T A 10: 22,541,246 (GRCm39) I367N probably damaging Het
Sorcs1 T C 19: 50,276,532 (GRCm39) D340G probably damaging Het
Synj1 T C 16: 90,735,877 (GRCm39) K1359E probably benign Het
Tasor2 C T 13: 3,631,891 (GRCm39) R870H possibly damaging Het
Tcf12 T A 9: 71,775,547 (GRCm39) E421V probably damaging Het
Tecta A T 9: 42,284,371 (GRCm39) F905I probably benign Het
Tmem106a T A 11: 101,474,576 (GRCm39) C58* probably null Het
Tmem131l A T 3: 83,805,689 (GRCm39) F1585I probably damaging Het
Tnks2 T C 19: 36,856,752 (GRCm39) S208P possibly damaging Het
Trim50 A G 5: 135,382,274 (GRCm39) N42S probably benign Het
Tsc22d2 T A 3: 58,367,674 (GRCm39) probably benign Het
Ttll3 T A 6: 113,371,702 (GRCm39) L23H probably damaging Het
Vmn1r10 A G 6: 57,091,218 (GRCm39) Y270C probably benign Het
Ypel3 T C 7: 126,377,537 (GRCm39) V74A possibly damaging Het
Zfp677 A G 17: 21,618,070 (GRCm39) T376A possibly damaging 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
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
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'- TGAATCTTCTGCAAGGTCTCGG -3'
(R):5'- GTTCTGGAAACAATGCTCAGTAAC -3'

Sequencing Primer
(F):5'- GAGGCCAGGTTCCCTTCATC -3'
(R):5'- GCTCAGTAACTTTGTTATATGTTCGG -3'
Posted On 2017-08-16