Incidental Mutation 'R6338:Arhgap11a'
ID 514304
Institutional Source Beutler Lab
Gene Symbol Arhgap11a
Ensembl Gene ENSMUSG00000041219
Gene Name Rho GTPase activating protein 11A
Synonyms GAP (1-12), 6530401L14Rik
MMRRC Submission 044492-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6338 (G1)
Quality Score 225.009
Status Not validated
Chromosome 2
Chromosomal Location 113661837-113679006 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 113664070 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Glycine at position 738 (S738G)
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 benign
Transcript: ENSMUST00000102545
AA Change: S738G

PolyPhen 2 Score 0.366 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000099604
Gene: ENSMUSG00000041219
AA Change: S738G

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: S738G

PolyPhen 2 Score 0.366 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000106574
Gene: ENSMUSG00000041219
AA Change: S738G

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
  • 1x: 100.0%
  • 3x: 99.7%
  • 10x: 98.1%
  • 20x: 93.8%
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: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acer3 T C 7: 97,906,922 (GRCm39) Y128C probably damaging Het
Adam30 T G 3: 98,068,857 (GRCm39) I102S probably damaging Het
Adcy8 A T 15: 64,792,466 (GRCm39) D163E possibly damaging Het
Agrn C T 4: 156,255,042 (GRCm39) E1614K probably benign Het
Aldh16a1 A T 7: 44,791,385 (GRCm39) W107R probably damaging Het
Arfgef2 A G 2: 166,687,490 (GRCm39) D238G probably damaging Het
Arid5b C A 10: 67,934,391 (GRCm39) G504* probably null Het
Carmil3 T C 14: 55,737,306 (GRCm39) V763A possibly damaging Het
Cd209e T A 8: 3,899,154 (GRCm39) D186V probably damaging Het
Cdh23 T C 10: 60,248,930 (GRCm39) D882G probably damaging Het
Cdh4 T C 2: 179,532,605 (GRCm39) V689A probably damaging Het
Cntn6 T A 6: 104,703,100 (GRCm39) V174E probably damaging Het
Col7a1 C T 9: 108,785,701 (GRCm39) T390M unknown Het
Crybg1 T C 10: 43,868,505 (GRCm39) D1017G probably damaging Het
Csmd1 T G 8: 15,982,492 (GRCm39) K2725T possibly damaging Het
Dnaaf2 T C 12: 69,244,896 (GRCm39) E55G probably damaging Het
Efcab3 C T 11: 104,734,034 (GRCm39) R2027* probably null Het
Fam13a A G 6: 58,930,484 (GRCm39) V476A probably damaging Het
Fem1b A T 9: 62,704,293 (GRCm39) D322E probably benign Het
Frmpd1 G A 4: 45,274,489 (GRCm39) V466I probably benign Het
Gm20671 A T 5: 32,977,991 (GRCm39) D1794E probably damaging Het
Gpatch2 G T 1: 186,957,711 (GRCm39) R22L probably damaging Het
Gtf2h1 A G 7: 46,465,880 (GRCm39) T450A probably benign Het
Kcnc2 G C 10: 112,107,761 (GRCm39) G51R probably benign Het
Krit1 T G 5: 3,886,857 (GRCm39) M702R probably benign Het
Krt34 T C 11: 99,929,316 (GRCm39) N298S probably benign Het
Lrrcc1 T A 3: 14,612,376 (GRCm39) N376K possibly damaging Het
Myo15a A G 11: 60,368,959 (GRCm39) E573G probably damaging Het
Or11j4 T A 14: 50,630,857 (GRCm39) F215I possibly damaging Het
Or1af1 A T 2: 37,109,834 (GRCm39) D111V probably damaging Het
Or1e31 A T 11: 73,690,145 (GRCm39) L146Q possibly damaging Het
Or2y17 A G 11: 49,231,694 (GRCm39) S112G probably benign Het
Or4c119 T A 2: 88,986,715 (GRCm39) K268I probably damaging Het
Or56b2 T A 7: 104,337,378 (GRCm39) V52E possibly damaging Het
Phf20 A T 2: 156,115,606 (GRCm39) Q309L possibly damaging Het
Plcd1 G A 9: 118,904,059 (GRCm39) R292C probably damaging Het
Pold3 A G 7: 99,737,312 (GRCm39) V342A possibly damaging Het
Polr2a A T 11: 69,630,505 (GRCm39) probably null Het
Ptprcap A G 19: 4,206,223 (GRCm39) E102G probably benign Het
Rab11fip5 T C 6: 85,318,360 (GRCm39) E843G possibly damaging Het
Rai14 T C 15: 10,575,062 (GRCm39) D632G probably damaging Het
Rnf149 A T 1: 39,599,823 (GRCm39) C268S probably null Het
Slc6a13 T A 6: 121,311,798 (GRCm39) F392I probably damaging Het
Slc7a11 C T 3: 50,338,492 (GRCm39) probably null Het
Slf1 T A 13: 77,232,581 (GRCm39) probably null Het
Stard9 G A 2: 120,527,966 (GRCm39) V1408I probably benign Het
Suclg1 T C 6: 73,241,229 (GRCm39) I183T probably damaging Het
Syne1 T C 10: 5,205,475 (GRCm39) E3497G probably benign Het
Tax1bp1 C T 6: 52,706,361 (GRCm39) R121* probably null Het
Tdpoz2 C T 3: 93,559,643 (GRCm39) V110I probably benign Het
Ubn2 A G 6: 38,467,649 (GRCm39) T788A probably benign Het
Unc13c T A 9: 73,641,729 (GRCm39) I1255F probably damaging Het
Usp44 G T 10: 93,682,375 (GRCm39) R275I probably damaging Het
Uspl1 A G 5: 149,151,844 (GRCm39) N1015D probably benign Het
Wbp2nl G T 15: 82,183,246 (GRCm39) W13C possibly damaging Het
Zc3h14 T A 12: 98,724,849 (GRCm39) D170E 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
R6119:Arhgap11a UTSW 2 113,664,695 (GRCm39) missense probably benign
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'- TTCTTCTGACGGACTGACGGAC -3'
(R):5'- GAAGGCCTGCACTCAGAAAC -3'

Sequencing Primer
(F):5'- CGCTGAAATTTAAGAGGTGACTTCAC -3'
(R):5'- GCACTCAGAAACACCCAAAGCTG -3'
Posted On 2018-04-27