Incidental Mutation 'IGL00844:Arhgap36'
ID 12466
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Arhgap36
Ensembl Gene ENSMUSG00000036198
Gene Name Rho GTPase activating protein 36
Synonyms 1100001E04Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.126) question?
Stock # IGL00844
Quality Score
Status
Chromosome X
Chromosomal Location 48552822-48589121 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 48586631 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Histidine at position 421 (Q421H)
Ref Sequence ENSEMBL: ENSMUSP00000040798 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000042444] [ENSMUST00000114904] [ENSMUST00000130558]
AlphaFold B1AUC7
Predicted Effect probably damaging
Transcript: ENSMUST00000042444
AA Change: Q421H

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000040798
Gene: ENSMUSG00000036198
AA Change: Q421H

DomainStartEndE-ValueType
low complexity region 145 158 N/A INTRINSIC
low complexity region 189 201 N/A INTRINSIC
RhoGAP 221 411 5.49e-46 SMART
Blast:RhoGAP 449 525 5e-22 BLAST
Predicted Effect probably damaging
Transcript: ENSMUST00000114904
AA Change: Q421H

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000110554
Gene: ENSMUSG00000036198
AA Change: Q421H

DomainStartEndE-ValueType
low complexity region 145 158 N/A INTRINSIC
low complexity region 189 201 N/A INTRINSIC
RhoGAP 221 411 5.49e-46 SMART
Blast:RhoGAP 449 491 2e-8 BLAST
low complexity region 502 513 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000130558
SMART Domains Protein: ENSMUSP00000119757
Gene: ENSMUSG00000036198

DomainStartEndE-ValueType
low complexity region 129 142 N/A INTRINSIC
low complexity region 173 185 N/A INTRINSIC
Pfam:RhoGAP 208 263 9e-10 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132784
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151128
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 28 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3425401B19Rik A T 14: 32,384,956 (GRCm39) C336* probably null Het
Adgrv1 T C 13: 81,688,238 (GRCm39) D994G probably damaging Het
Arhgef17 A G 7: 100,578,656 (GRCm39) V764A probably benign Het
Atf7ip T C 6: 136,537,679 (GRCm39) V304A probably benign Het
Babam2 T A 5: 32,164,651 (GRCm39) F299L probably damaging Het
Ceacam11 T G 7: 17,707,595 (GRCm39) D126E possibly damaging Het
Dlg3 C A X: 99,850,199 (GRCm39) H197Q probably damaging Het
Dnmt3a T A 12: 3,955,622 (GRCm39) L590Q probably damaging Het
Fras1 A G 5: 96,682,712 (GRCm39) probably benign Het
Gabarapl1 T C 6: 129,515,598 (GRCm39) F79L probably benign Het
Gabbr2 A G 4: 46,875,711 (GRCm39) V137A probably damaging Het
Gphn T C 12: 78,711,342 (GRCm39) probably benign Het
Hnrnpr A G 4: 136,066,516 (GRCm39) I399M probably benign Het
Madd A C 2: 90,998,213 (GRCm39) S636A probably damaging Het
Pi15 T C 1: 17,691,764 (GRCm39) probably benign Het
Ppp3cb A T 14: 20,581,754 (GRCm39) M87K possibly damaging Het
Ptpro C A 6: 137,391,237 (GRCm39) H786N probably damaging Het
Rnase11 T C 14: 51,287,213 (GRCm39) I114V possibly damaging Het
Sirt4 A G 5: 115,617,685 (GRCm39) probably null Het
Stab1 T C 14: 30,869,023 (GRCm39) D1534G probably damaging Het
Sulf2 A G 2: 165,936,412 (GRCm39) S185P possibly damaging Het
Svs6 A C 2: 164,159,507 (GRCm39) K90T possibly damaging Het
Tdrd6 A G 17: 43,928,087 (GRCm39) M2102T probably benign Het
Ttll5 T C 12: 85,890,600 (GRCm39) V77A probably damaging Het
Usp9x T G X: 12,994,685 (GRCm39) S959A probably benign Het
Vps50 C T 6: 3,532,177 (GRCm39) Q227* probably null Het
Zfp57 C A 17: 37,320,514 (GRCm39) Q120K possibly damaging Het
Zswim2 T C 2: 83,754,115 (GRCm39) N182D probably benign Het
Other mutations in Arhgap36
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02135:Arhgap36 APN X 48,586,066 (GRCm39) missense possibly damaging 0.65
IGL02429:Arhgap36 APN X 48,583,583 (GRCm39) missense possibly damaging 0.68
R2237:Arhgap36 UTSW X 48,582,282 (GRCm39) missense possibly damaging 0.82
R2238:Arhgap36 UTSW X 48,582,282 (GRCm39) missense possibly damaging 0.82
R2239:Arhgap36 UTSW X 48,582,282 (GRCm39) missense possibly damaging 0.82
Y5407:Arhgap36 UTSW X 48,584,310 (GRCm39) missense probably benign 0.00
Y5409:Arhgap36 UTSW X 48,584,310 (GRCm39) missense probably benign 0.00
Posted On 2012-12-06