Incidental Mutation 'IGL02946:Arhgap27'
ID 364755
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Arhgap27
Ensembl Gene ENSMUSG00000034255
Gene Name Rho GTPase activating protein 27
Synonyms 5730442P18Rik, Sh3d20, 2310069I04Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.108) question?
Stock # IGL02946
Quality Score
Status
Chromosome 11
Chromosomal Location 103222323-103254518 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 103229174 bp (GRCm39)
Zygosity Heterozygous
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]
AlphaFold A2AB59
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: ENSMUST00000144194
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139830
Predicted Effect noncoding transcript
Transcript: ENSMUST00000163250
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150122
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: 109,919,041 (GRCm39) probably benign Het
Actr3b T C 5: 26,053,481 (GRCm39) I270T possibly damaging Het
Adgrf2 T C 17: 43,021,384 (GRCm39) Y480C probably damaging Het
BC031181 C T 18: 75,141,736 (GRCm39) probably benign Het
Cckbr C T 7: 105,083,238 (GRCm39) A147V probably damaging Het
Ccm2 G A 11: 6,546,195 (GRCm39) R335H probably damaging Het
Ces1d C A 8: 93,896,346 (GRCm39) probably null Het
Crabp1 T C 9: 54,672,232 (GRCm39) F16S possibly damaging Het
Crmp1 C T 5: 37,441,424 (GRCm39) A502V probably damaging Het
Ehhadh A T 16: 21,581,672 (GRCm39) V440D probably damaging Het
Galnt3 T A 2: 65,925,562 (GRCm39) I392L probably damaging Het
Gm12689 T A 4: 99,184,490 (GRCm39) N114K unknown Het
Hspa2 A G 12: 76,451,947 (GRCm39) T214A probably damaging Het
Itga7 T C 10: 128,769,952 (GRCm39) I32T probably benign Het
Itgal A G 7: 126,913,540 (GRCm39) S682G probably damaging Het
Kctd1 C T 18: 15,107,036 (GRCm39) probably null Het
Lrp1b T A 2: 41,202,571 (GRCm39) D439V probably damaging Het
Mdn1 A G 4: 32,734,366 (GRCm39) K3258E probably damaging Het
Mgat4c T C 10: 102,225,114 (GRCm39) S443P probably benign Het
Mylk G A 16: 34,742,158 (GRCm39) G890E probably benign Het
Mylk2 T A 2: 152,761,130 (GRCm39) L446* probably null Het
Niban1 A T 1: 151,525,176 (GRCm39) I194F probably damaging Het
Or2t26 T G 11: 49,039,719 (GRCm39) F212V probably damaging Het
Pi4k2b T C 5: 52,910,549 (GRCm39) F278L probably damaging Het
Pitpnm3 A G 11: 71,983,378 (GRCm39) S84P probably benign Het
Plxna2 T C 1: 194,431,617 (GRCm39) probably benign Het
Prr5l C A 2: 101,602,529 (GRCm39) probably null Het
Ptprs T C 17: 56,731,032 (GRCm39) T719A probably benign Het
Rasa3 T C 8: 13,648,280 (GRCm39) H128R probably benign Het
Rhox13 A G X: 37,218,652 (GRCm39) K205E probably damaging Het
Rif1 C A 2: 52,000,137 (GRCm39) S1197* probably null Het
Sgta A G 10: 80,885,612 (GRCm39) probably benign Het
Slc25a5 T A X: 36,061,506 (GRCm39) M239K probably damaging Het
Stil T A 4: 114,887,110 (GRCm39) H734Q probably benign Het
Stk32b T C 5: 37,688,883 (GRCm39) probably benign Het
Ubr4 T G 4: 139,152,606 (GRCm39) F1999C probably damaging Het
Wfdc2 A C 2: 164,406,009 (GRCm39) T86P probably benign Het
Zfp407 T C 18: 84,578,834 (GRCm39) S760G probably damaging Het
Zfp668 A T 7: 127,465,690 (GRCm39) L498Q possibly damaging Het
Other mutations in Arhgap27
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02318:Arhgap27 APN 11 103,223,989 (GRCm39) missense probably benign 0.00
IGL03135:Arhgap27 APN 11 103,229,891 (GRCm39) splice site probably null
R1789:Arhgap27 UTSW 11 103,223,831 (GRCm39) missense probably damaging 1.00
R1842:Arhgap27 UTSW 11 103,230,822 (GRCm39) missense probably damaging 0.99
R1906:Arhgap27 UTSW 11 103,223,751 (GRCm39) missense probably damaging 1.00
R2884:Arhgap27 UTSW 11 103,251,669 (GRCm39) splice site probably null
R2885:Arhgap27 UTSW 11 103,251,669 (GRCm39) splice site probably null
R3157:Arhgap27 UTSW 11 103,224,663 (GRCm39) splice site probably null
R4679:Arhgap27 UTSW 11 103,251,775 (GRCm39) unclassified probably benign
R4708:Arhgap27 UTSW 11 103,224,388 (GRCm39) splice site probably benign
R4926:Arhgap27 UTSW 11 103,229,949 (GRCm39) splice site probably null
R5980:Arhgap27 UTSW 11 103,247,095 (GRCm39) missense probably benign 0.00
R6212:Arhgap27 UTSW 11 103,251,698 (GRCm39) missense probably damaging 1.00
R7205:Arhgap27 UTSW 11 103,235,367 (GRCm39) missense probably benign 0.00
R7208:Arhgap27 UTSW 11 103,251,585 (GRCm39) missense probably damaging 1.00
R7212:Arhgap27 UTSW 11 103,251,581 (GRCm39) missense probably damaging 0.99
R7327:Arhgap27 UTSW 11 103,251,367 (GRCm39) nonsense probably null
R7598:Arhgap27 UTSW 11 103,224,879 (GRCm39) nonsense probably null
R7732:Arhgap27 UTSW 11 103,230,869 (GRCm39) missense probably benign 0.00
R7791:Arhgap27 UTSW 11 103,230,020 (GRCm39) critical splice donor site probably null
R7826:Arhgap27 UTSW 11 103,229,153 (GRCm39) missense probably benign
R7869:Arhgap27 UTSW 11 103,251,130 (GRCm39) missense probably damaging 0.96
R7949:Arhgap27 UTSW 11 103,228,595 (GRCm39) missense probably damaging 0.98
R8057:Arhgap27 UTSW 11 103,229,519 (GRCm39) missense probably damaging 1.00
R8397:Arhgap27 UTSW 11 103,224,073 (GRCm39) missense probably damaging 0.98
R8974:Arhgap27 UTSW 11 103,224,756 (GRCm39) missense possibly damaging 0.50
R9103:Arhgap27 UTSW 11 103,251,540 (GRCm39) missense probably damaging 1.00
R9373:Arhgap27 UTSW 11 103,251,287 (GRCm39) missense possibly damaging 0.52
R9397:Arhgap27 UTSW 11 103,231,115 (GRCm39) missense probably damaging 1.00
R9762:Arhgap27 UTSW 11 103,251,511 (GRCm39) missense probably benign 0.02
R9787:Arhgap27 UTSW 11 103,230,048 (GRCm39) missense possibly damaging 0.94
X0028:Arhgap27 UTSW 11 103,223,854 (GRCm39) missense probably benign 0.25
Posted On 2015-12-18