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)
|
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
Domain | Start | End | E-Value | Type |
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
Domain | Start | End | E-Value | Type |
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
Domain | Start | End | E-Value | Type |
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
Domain | Start | End | E-Value | Type |
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
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
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 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |