Incidental Mutation 'IGL02429:Arhgap36'
ID 293034
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 # IGL02429
Quality Score
Status
Chromosome X
Chromosomal Location 48552822-48589121 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 48583583 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 77 (D77G)
Ref Sequence ENSEMBL: ENSMUSP00000119757 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000042444] [ENSMUST00000114904] [ENSMUST00000130558]
AlphaFold B1AUC7
Predicted Effect possibly damaging
Transcript: ENSMUST00000042444
AA Change: D93G

PolyPhen 2 Score 0.539 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000040798
Gene: ENSMUSG00000036198
AA Change: D93G

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 possibly damaging
Transcript: ENSMUST00000114904
AA Change: D93G

PolyPhen 2 Score 0.676 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000110554
Gene: ENSMUSG00000036198
AA Change: D93G

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 possibly damaging
Transcript: ENSMUST00000130558
AA Change: D77G

PolyPhen 2 Score 0.676 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000119757
Gene: ENSMUSG00000036198
AA Change: D77G

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: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acmsd A T 1: 127,687,453 (GRCm39) D245V probably damaging Het
Adamts16 G A 13: 70,935,289 (GRCm39) probably benign Het
Asap1 A T 15: 64,039,589 (GRCm39) M187K probably damaging Het
Aspm T C 1: 139,407,548 (GRCm39) V2145A probably benign Het
Ccn6 T C 10: 39,030,989 (GRCm39) N178S probably benign Het
Cd46 T C 1: 194,767,732 (GRCm39) T110A probably benign Het
Chl1 T A 6: 103,641,770 (GRCm39) probably benign Het
Clca3b A G 3: 144,533,896 (GRCm39) L493S probably damaging Het
Col11a2 C T 17: 34,261,266 (GRCm39) T72M probably damaging Het
Cyfip1 T A 7: 55,521,730 (GRCm39) probably benign Het
Frmd4b T C 6: 97,302,390 (GRCm39) probably benign Het
Glyr1 A G 16: 4,837,240 (GRCm39) M397T probably benign Het
Golm2 A G 2: 121,742,468 (GRCm39) T306A probably benign Het
Gtf2a1l G T 17: 88,976,141 (GRCm39) M1I probably null Het
Hdac4 A G 1: 91,940,417 (GRCm39) L154P probably benign Het
Ints8 A T 4: 11,231,720 (GRCm39) C422S probably damaging Het
Kng2 T A 16: 22,830,829 (GRCm39) K160I probably damaging Het
Lrrc23 C A 6: 124,755,130 (GRCm39) A136S probably damaging Het
Ltf T C 9: 110,855,193 (GRCm39) I402T possibly damaging Het
Lyst G A 13: 13,835,541 (GRCm39) C1741Y probably benign Het
Mfsd4a T C 1: 131,956,237 (GRCm39) H509R probably benign Het
Mthfd1l A G 10: 4,039,334 (GRCm39) K782E probably damaging Het
Mvb12b G A 2: 33,717,800 (GRCm39) R114W probably damaging Het
Myh4 A T 11: 67,149,808 (GRCm39) K1818* probably null Het
Myo1h C T 5: 114,497,799 (GRCm39) probably benign Het
Ncapd3 T A 9: 27,000,598 (GRCm39) S1402T probably benign Het
Nutm2 A G 13: 50,623,516 (GRCm39) N71S probably benign Het
Oas1c C A 5: 120,940,133 (GRCm39) M344I probably benign Het
Or10g7 T A 9: 39,905,138 (GRCm39) F11I probably benign Het
Phldb1 A G 9: 44,612,247 (GRCm39) L1019P probably damaging Het
Plxnc1 T C 10: 94,718,453 (GRCm39) E494G probably benign Het
Pole T C 5: 110,447,666 (GRCm39) I734T probably benign Het
Ppp1r3b T C 8: 35,851,769 (GRCm39) S203P probably benign Het
Pth2r G T 1: 65,385,998 (GRCm39) M240I probably benign Het
Ptprr T A 10: 116,109,672 (GRCm39) F394I probably damaging Het
Rabgef1 T C 5: 130,239,329 (GRCm39) S265P possibly damaging Het
Rbpjl A G 2: 164,255,815 (GRCm39) D353G possibly damaging Het
Rfc3 A G 5: 151,574,596 (GRCm39) Y8H probably benign Het
Rph3a A T 5: 121,118,187 (GRCm39) probably null Het
Runx1t1 A T 4: 13,865,294 (GRCm39) probably benign Het
Slc37a1 T A 17: 31,519,483 (GRCm39) probably null Het
Slc38a10 T C 11: 120,025,714 (GRCm39) probably benign Het
Slc38a6 T C 12: 73,397,342 (GRCm39) V328A probably benign Het
Slf2 T C 19: 44,930,167 (GRCm39) S415P probably benign Het
Spata17 C A 1: 186,872,631 (GRCm39) R60L possibly damaging Het
Svil T A 18: 5,118,369 (GRCm39) D2237E probably benign Het
Swap70 T A 7: 109,863,179 (GRCm39) N169K probably benign Het
Tnfrsf11a A G 1: 105,755,443 (GRCm39) D505G probably benign Het
Traf1 A G 2: 34,839,115 (GRCm39) V70A probably benign Het
Traf3 T A 12: 111,209,899 (GRCm39) V165E probably benign Het
Trpc5 T C X: 143,194,795 (GRCm39) E570G probably damaging Het
Ubash3a A G 17: 31,460,279 (GRCm39) N601S probably benign Het
Vmn2r30 C T 7: 7,337,243 (GRCm39) C131Y possibly damaging Het
Vmn2r43 T C 7: 8,258,551 (GRCm39) I221V probably benign Het
Vmn2r97 T A 17: 19,150,596 (GRCm39) V481E possibly damaging Het
Other mutations in Arhgap36
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00844:Arhgap36 APN X 48,586,631 (GRCm39) missense probably damaging 1.00
IGL02135:Arhgap36 APN X 48,586,066 (GRCm39) missense possibly damaging 0.65
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 2015-04-16