Incidental Mutation 'IGL01609:Arhgap18'
ID91886
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Arhgap18
Ensembl Gene ENSMUSG00000039031
Gene NameRho GTPase activating protein 18
Synonyms
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL01609
Quality Score
Status
Chromosome10
Chromosomal Location26753421-26918648 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 26880748 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glycine at position 448 (D448G)
Ref Sequence ENSEMBL: ENSMUSP00000044834 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000039557]
Predicted Effect possibly damaging
Transcript: ENSMUST00000039557
AA Change: D448G

PolyPhen 2 Score 0.746 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000044834
Gene: ENSMUSG00000039031
AA Change: D448G

DomainStartEndE-ValueType
low complexity region 100 114 N/A INTRINSIC
RhoGAP 340 520 8.99e-42 SMART
coiled coil region 535 557 N/A INTRINSIC
Blast:RhoGAP 572 613 1e-13 BLAST
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142284
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] ARHGAP18 belongs to a family of Rho (see MIM 165390) GTPase-activating proteins that modulate cell signaling (Potkin et al., 2009 [PubMed 19065146]).[supplied by OMIM, Apr 2010]
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ablim3 A G 18: 61,822,021 V299A probably benign Het
Actr5 T C 2: 158,636,802 probably null Het
Bcl9 T C 3: 97,208,975 E801G probably benign Het
Bin1 A G 18: 32,419,925 N232S probably damaging Het
Brf1 A C 12: 112,963,591 Y459D probably damaging Het
Clca4a T A 3: 144,953,780 I772F probably damaging Het
Cyp2a4 G A 7: 26,308,663 probably null Het
Dync1i2 T A 2: 71,247,008 probably benign Het
Frem3 T A 8: 80,612,704 M542K probably benign Het
Gm9992 A G 17: 7,369,739 V130A probably damaging Het
Gpbp1 T C 13: 111,439,202 T256A possibly damaging Het
Ighm T C 12: 113,421,234 probably benign Het
Igkv3-12 A G 6: 70,518,248 probably benign Het
Kdm4d A G 9: 14,464,418 V48A probably damaging Het
Lama2 T C 10: 27,344,421 S483G probably benign Het
Lbp A C 2: 158,328,412 Q464P probably damaging Het
Lipo4 T C 19: 33,499,254 T365A probably benign Het
Mark3 T C 12: 111,627,522 F274S probably damaging Het
Mcm3 A T 1: 20,814,680 probably benign Het
Mrpl9 T A 3: 94,444,694 F137I probably damaging Het
Msh4 G T 3: 153,897,397 A93E probably damaging Het
Mthfd1l T A 10: 4,018,567 D407E probably benign Het
Olfr101 C T 17: 37,299,738 R228H probably benign Het
Olfr1357 A C 10: 78,612,126 S172A probably benign Het
Olfr1406 G A 1: 173,184,276 H53Y probably benign Het
Pcsk2 G T 2: 143,801,158 V452L possibly damaging Het
Pcsk6 G A 7: 66,035,273 probably null Het
Pmfbp1 A G 8: 109,527,716 E461G probably benign Het
Pole2 A G 12: 69,207,857 probably null Het
Postn T C 3: 54,369,228 M176T probably damaging Het
Prss12 T A 3: 123,482,834 C371S probably damaging Het
Rnf11 T A 4: 109,456,976 Q72L possibly damaging Het
Rrad A G 8: 104,629,824 probably null Het
Slitrk3 T A 3: 73,050,237 I401F probably damaging Het
Themis A G 10: 28,668,753 probably benign Het
Tmem45a A G 16: 56,811,565 I230T probably benign Het
Tnni1 C A 1: 135,805,496 probably null Het
Trpa1 A T 1: 14,912,383 I83N probably damaging Het
Uggt1 T C 1: 36,182,474 Y54C probably damaging Het
Umodl1 C T 17: 30,998,826 T1202I possibly damaging Het
Usp37 G A 1: 74,475,040 A324V probably benign Het
Zfp808 T A 13: 62,173,209 C751S probably damaging Het
Other mutations in Arhgap18
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02393:Arhgap18 APN 10 26877183 missense probably benign 0.07
IGL03368:Arhgap18 APN 10 26772693 missense possibly damaging 0.60
Half_pint UTSW 10 26772698 critical splice donor site probably null
R0698:Arhgap18 UTSW 10 26912629 missense probably damaging 1.00
R1456:Arhgap18 UTSW 10 26916440 missense probably benign 0.29
R1532:Arhgap18 UTSW 10 26860722 missense possibly damaging 0.69
R1768:Arhgap18 UTSW 10 26887861 missense probably damaging 1.00
R1768:Arhgap18 UTSW 10 26887862 missense probably damaging 1.00
R1793:Arhgap18 UTSW 10 26860736 unclassified probably benign
R1867:Arhgap18 UTSW 10 26846030 missense probably damaging 0.99
R2020:Arhgap18 UTSW 10 26854904 missense probably benign
R2049:Arhgap18 UTSW 10 26849942 missense probably benign 0.00
R2056:Arhgap18 UTSW 10 26854908 missense probably benign 0.03
R2058:Arhgap18 UTSW 10 26854908 missense probably benign 0.03
R2986:Arhgap18 UTSW 10 26854907 missense probably benign 0.00
R3027:Arhgap18 UTSW 10 26846096 missense probably benign
R5103:Arhgap18 UTSW 10 26869982 missense probably damaging 1.00
R5468:Arhgap18 UTSW 10 26912671 missense probably damaging 0.99
R5532:Arhgap18 UTSW 10 26846108 missense possibly damaging 0.56
R5710:Arhgap18 UTSW 10 26860733 unclassified probably null
R6019:Arhgap18 UTSW 10 26860650 missense probably damaging 0.98
R6190:Arhgap18 UTSW 10 26846035 start codon destroyed probably null 0.22
R6346:Arhgap18 UTSW 10 26846065 missense probably damaging 1.00
R6438:Arhgap18 UTSW 10 26772698 critical splice donor site probably null
R6572:Arhgap18 UTSW 10 26846416 intron probably null
R6799:Arhgap18 UTSW 10 26849921 missense possibly damaging 0.57
R6844:Arhgap18 UTSW 10 26772686 missense probably benign 0.04
R7051:Arhgap18 UTSW 10 26849921 missense possibly damaging 0.57
R7084:Arhgap18 UTSW 10 26872738 missense possibly damaging 0.77
R7727:Arhgap18 UTSW 10 26870011 missense possibly damaging 0.83
R8046:Arhgap18 UTSW 10 26887857 missense probably damaging 0.98
R8252:Arhgap18 UTSW 10 26854936 missense probably benign 0.00
R8392:Arhgap18 UTSW 10 26845940 missense probably benign 0.38
Z1088:Arhgap18 UTSW 10 26850004 unclassified probably null
Posted On2013-12-09