Incidental Mutation 'IGL02946:Arhgap27'
ID364755
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Arhgap27
Ensembl Gene ENSMUSG00000034255
Gene NameRho GTPase activating protein 27
Synonyms5730442P18Rik, Sh3d20, 2310069I04Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.130) question?
Stock #IGL02946
Quality Score
Status
Chromosome11
Chromosomal Location103331497-103363692 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 103338348 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Alanine at position 514 (T514A)
Ref Sequence ENSEMBL: ENSMUSP00000102639 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000041385] [ENSMUST00000107023] [ENSMUST00000107024] [ENSMUST00000136491]
Predicted Effect probably damaging
Transcript: ENSMUST00000041385
AA Change: T315A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000039427
Gene: ENSMUSG00000034255
AA Change: T315A

DomainStartEndE-ValueType
WW 48 81 3.49e-8 SMART
WW 101 134 7.44e-3 SMART
WW 216 248 2.32e-4 SMART
PH 279 396 1.08e-9 SMART
Blast:RhoGAP 446 480 2e-10 BLAST
RhoGAP 489 664 1.45e-68 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000107023
SMART Domains Protein: ENSMUSP00000102638
Gene: ENSMUSG00000034255

DomainStartEndE-ValueType
WW 62 95 3.49e-8 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000107024
AA Change: T514A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000102639
Gene: ENSMUSG00000034255
AA Change: T514A

DomainStartEndE-ValueType
SH3 9 68 1.59e-1 SMART
low complexity region 73 89 N/A INTRINSIC
WW 247 280 3.49e-8 SMART
WW 300 333 7.44e-3 SMART
WW 415 447 2.32e-4 SMART
PH 478 595 1.08e-9 SMART
Blast:RhoGAP 651 682 1e-6 BLAST
RhoGAP 688 863 1.45e-68 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000116102
Predicted Effect noncoding transcript
Transcript: ENSMUST00000124490
Predicted Effect probably benign
Transcript: ENSMUST00000136491
SMART Domains Protein: ENSMUSP00000128051
Gene: ENSMUSG00000034255

DomainStartEndE-ValueType
Blast:WW 52 81 4e-10 BLAST
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139830
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144194
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150122
Predicted Effect noncoding transcript
Transcript: ENSMUST00000163250
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 a large family of proteins that activate Rho-type guanosine triphosphate (GTP) metabolizing enzymes. The encoded protein may pay a role in clathrin-mediated endocytosis. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Aug 2013]
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca8a G A 11: 110,028,215 probably benign Het
Actr3b T C 5: 25,848,483 I270T possibly damaging Het
Adgrf2 T C 17: 42,710,493 Y480C probably damaging Het
BC031181 C T 18: 75,008,665 probably benign Het
Cckbr C T 7: 105,434,031 A147V probably damaging Het
Ccm2 G A 11: 6,596,195 R335H probably damaging Het
Ces1d C A 8: 93,169,718 probably null Het
Crabp1 T C 9: 54,764,948 F16S possibly damaging Het
Crmp1 C T 5: 37,284,080 A502V probably damaging Het
Ehhadh A T 16: 21,762,922 V440D probably damaging Het
Fam129a A T 1: 151,649,425 I194F probably damaging Het
Galnt3 T A 2: 66,095,218 I392L probably damaging Het
Gm12689 T A 4: 99,296,253 N114K unknown Het
Hspa2 A G 12: 76,405,173 T214A probably damaging Het
Itga7 T C 10: 128,934,083 I32T probably benign Het
Itgal A G 7: 127,314,368 S682G probably damaging Het
Kctd1 C T 18: 14,973,979 probably null Het
Lrp1b T A 2: 41,312,559 D439V probably damaging Het
Mdn1 A G 4: 32,734,366 K3258E probably damaging Het
Mgat4c T C 10: 102,389,253 S443P probably benign Het
Mylk G A 16: 34,921,788 G890E probably benign Het
Mylk2 T A 2: 152,919,210 L446* probably null Het
Olfr1395 T G 11: 49,148,892 F212V probably damaging Het
Pi4k2b T C 5: 52,753,207 F278L probably damaging Het
Pitpnm3 A G 11: 72,092,552 S84P probably benign Het
Plxna2 T C 1: 194,749,309 probably benign Het
Prr5l C A 2: 101,772,184 probably null Het
Ptprs T C 17: 56,424,032 T719A probably benign Het
Rasa3 T C 8: 13,598,280 H128R probably benign Het
Rhox13 A G X: 38,129,775 K205E probably damaging Het
Rif1 C A 2: 52,110,125 S1197* probably null Het
Sgta A G 10: 81,049,778 probably benign Het
Slc25a5 T A X: 36,797,853 M239K probably damaging Het
Stil T A 4: 115,029,913 H734Q probably benign Het
Stk32b T C 5: 37,531,539 probably benign Het
Ubr4 T G 4: 139,425,295 F1999C probably damaging Het
Wfdc2 A C 2: 164,564,089 T86P probably benign Het
Zfp407 T C 18: 84,560,709 S760G probably damaging Het
Zfp668 A T 7: 127,866,518 L498Q possibly damaging Het
Other mutations in Arhgap27
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02318:Arhgap27 APN 11 103333163 missense probably benign 0.00
IGL03135:Arhgap27 APN 11 103339065 unclassified probably null
R1789:Arhgap27 UTSW 11 103333005 missense probably damaging 1.00
R1842:Arhgap27 UTSW 11 103339996 missense probably damaging 0.99
R1906:Arhgap27 UTSW 11 103332925 missense probably damaging 1.00
R2884:Arhgap27 UTSW 11 103360843 unclassified probably null
R2885:Arhgap27 UTSW 11 103360843 unclassified probably null
R3157:Arhgap27 UTSW 11 103333837 splice site probably null
R4679:Arhgap27 UTSW 11 103360949 unclassified probably benign
R4708:Arhgap27 UTSW 11 103333562 splice site probably benign
R4926:Arhgap27 UTSW 11 103339123 splice site probably null
R5980:Arhgap27 UTSW 11 103356269 missense probably benign 0.00
R6212:Arhgap27 UTSW 11 103360872 missense probably damaging 1.00
R7205:Arhgap27 UTSW 11 103344541 missense probably benign 0.00
R7208:Arhgap27 UTSW 11 103360759 missense probably damaging 1.00
R7212:Arhgap27 UTSW 11 103360755 missense probably damaging 0.99
R7327:Arhgap27 UTSW 11 103360541 nonsense probably null
R7598:Arhgap27 UTSW 11 103334053 nonsense probably null
R7732:Arhgap27 UTSW 11 103340043 missense probably benign 0.00
R7791:Arhgap27 UTSW 11 103339194 critical splice donor site probably null
R7826:Arhgap27 UTSW 11 103338327 missense probably benign
R7869:Arhgap27 UTSW 11 103360304 missense probably damaging 0.96
R7952:Arhgap27 UTSW 11 103360304 missense probably damaging 0.96
R8057:Arhgap27 UTSW 11 103338693 missense not run
X0028:Arhgap27 UTSW 11 103333028 missense probably benign 0.25
Posted On2015-12-18