Incidental Mutation 'IGL02738:Arhgap11a'
ID 305757
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 # IGL02738
Quality Score
Status
Chromosome 2
Chromosomal Location 113661837-113679006 bp(-) (GRCm39)
Type of Mutation makesense
DNA Base Change (assembly) A to T at 113663320 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Stop codon to Lysine at position 988 (*988K)
Ref Sequence ENSEMBL: ENSMUSP00000106574 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000024005] [ENSMUST00000102545] [ENSMUST00000110947] [ENSMUST00000110948] [ENSMUST00000110949]
AlphaFold Q80Y19
Predicted Effect probably benign
Transcript: ENSMUST00000024005
SMART Domains Protein: ENSMUSP00000024005
Gene: ENSMUSG00000023236

DomainStartEndE-ValueType
Pfam:Secretogranin_V 23 160 4e-13 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000102545
AA Change: *988K
SMART Domains Protein: ENSMUSP00000099604
Gene: ENSMUSG00000041219
AA Change: *988K

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 null
Transcript: ENSMUST00000110949
AA Change: *988K
SMART Domains Protein: ENSMUSP00000106574
Gene: ENSMUSG00000041219
AA Change: *988K

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 noncoding transcript
Transcript: ENSMUST00000139975
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: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acss1 A T 2: 150,466,792 (GRCm39) probably benign Het
Akr1c21 A T 13: 4,630,300 (GRCm39) N198Y probably damaging Het
Anapc11 A T 11: 120,490,102 (GRCm39) K6I probably benign Het
Angel1 G A 12: 86,752,060 (GRCm39) L554F probably benign Het
Arnt T A 3: 95,402,631 (GRCm39) probably null Het
Atp1a3 T A 7: 24,689,901 (GRCm39) D519V possibly damaging Het
Bdp1 C A 13: 100,187,861 (GRCm39) A1575S probably benign Het
Bglap G A 3: 88,291,715 (GRCm39) T3I unknown Het
Brca2 C T 5: 150,490,500 (GRCm39) P3054L probably damaging Het
Btn2a2 C A 13: 23,662,976 (GRCm39) E316* probably null Het
C1qtnf9 C T 14: 61,017,388 (GRCm39) T306I probably benign Het
Caprin2 T C 6: 148,744,360 (GRCm39) T1022A probably damaging Het
Cd109 T C 9: 78,598,581 (GRCm39) Y940H probably damaging Het
Cd300ld A G 11: 114,875,076 (GRCm39) L186S probably benign Het
Cdc45 C T 16: 18,617,479 (GRCm39) M200I probably benign Het
Chd6 A T 2: 160,807,618 (GRCm39) S1865R probably benign Het
Chrna2 T C 14: 66,386,889 (GRCm39) V345A probably benign Het
Dnah1 T G 14: 31,014,597 (GRCm39) E1756A probably benign Het
Dnah3 C T 7: 119,564,720 (GRCm39) A2637T probably benign Het
Ern2 A G 7: 121,782,122 (GRCm39) F80S probably damaging Het
Ero1b A G 13: 12,619,322 (GRCm39) I439V possibly damaging Het
Eva1a T G 6: 82,048,211 (GRCm39) S30A probably benign Het
Fer1l4 A G 2: 155,887,648 (GRCm39) L516P probably benign Het
Garin2 T A 12: 78,780,989 (GRCm39) probably benign Het
Hexim2 T C 11: 103,029,103 (GRCm39) S52P probably damaging Het
Hoxb9 A T 11: 96,165,554 (GRCm39) M208L possibly damaging Het
Lbr A G 1: 181,659,778 (GRCm39) V139A probably benign Het
Lcn10 G A 2: 25,574,032 (GRCm39) probably benign Het
Letm2 A G 8: 26,076,789 (GRCm39) I271T probably damaging Het
Lrrc34 T C 3: 30,685,441 (GRCm39) S303G possibly damaging Het
Matn2 C A 15: 34,388,885 (GRCm39) A325D probably benign Het
Mboat4 T C 8: 34,582,258 (GRCm39) L4P probably damaging Het
Mmp1a T A 9: 7,464,301 (GRCm39) probably benign Het
Naip2 T A 13: 100,325,685 (GRCm39) R74S probably benign Het
Neb G T 2: 52,133,862 (GRCm39) Q3374K probably damaging Het
Nup210l A G 3: 90,044,157 (GRCm39) E486G possibly damaging Het
Or4b13 A G 2: 90,082,699 (GRCm39) I211T possibly damaging Het
Or4k51 A C 2: 111,584,699 (GRCm39) Y35S probably damaging Het
Or5m12 A G 2: 85,735,293 (GRCm39) V35A probably benign Het
Or6c69 A T 10: 129,747,200 (GRCm39) probably benign Het
Pde8a A C 7: 80,976,090 (GRCm39) N677H probably damaging Het
Plag1 G A 4: 3,903,812 (GRCm39) Q460* probably null Het
Podnl1 A G 8: 84,858,824 (GRCm39) T550A probably benign Het
Ptpn22 A G 3: 103,781,382 (GRCm39) probably benign Het
Pycr3 A T 15: 75,790,565 (GRCm39) I98N probably damaging Het
Rtn4r A G 16: 17,969,052 (GRCm39) Y160C probably damaging Het
Slc27a4 A G 2: 29,701,238 (GRCm39) N343S probably benign Het
Slc2a4 A G 11: 69,836,940 (GRCm39) Y43H probably damaging Het
Sorbs1 A T 19: 40,365,348 (GRCm39) L145Q probably damaging Het
Speer2 A T 16: 69,658,600 (GRCm39) S22T probably benign Het
Sugp2 G T 8: 70,696,449 (GRCm39) G474V probably damaging Het
Syt3 C T 7: 44,035,447 (GRCm39) S18L possibly damaging Het
Tacc1 T C 8: 25,691,159 (GRCm39) E48G probably damaging Het
Tdrd6 A G 17: 43,931,337 (GRCm39) V2083A probably benign Het
Thra A T 11: 98,655,185 (GRCm39) H355L probably benign Het
Tmem35b C T 4: 127,019,981 (GRCm39) Q34* probably null Het
Unk G T 11: 115,947,017 (GRCm39) G537V probably damaging Het
Usp32 T A 11: 84,974,632 (GRCm39) D92V probably damaging Het
Vmn1r209 G T 13: 22,990,290 (GRCm39) Y133* probably null Het
Vmn1r42 A G 6: 89,821,630 (GRCm39) V313A possibly damaging Het
Vnn1 A G 10: 23,780,520 (GRCm39) I503V probably benign Het
Vwa2 G A 19: 56,886,361 (GRCm39) G143R 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
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 2015-04-16