Incidental Mutation 'IGL03135:Arhgap27'
| ID |
410470 |
| 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: 0.112)
|
| Stock # |
IGL03135
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
103222323-103254518 bp(-) (GRCm39) |
| Type of Mutation |
splice site (164 bp from exon) |
| DNA Base Change (assembly) |
T to A
at 103229891 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000128051
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041385]
[ENSMUST00000107023]
[ENSMUST00000107024]
[ENSMUST00000136491]
|
| AlphaFold |
A2AB59 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000041385
AA Change: D262V
PolyPhen 2
Score 0.962 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000039427
Gene: ENSMUSG00000034255
AA Change: D262V
| 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 null
Transcript: ENSMUST00000107023
|
| SMART Domains |
Protein: ENSMUSP00000102638
Gene: ENSMUSG00000034255
| Domain | Start | End | E-Value | Type |
|---|
|
WW
|
62 |
95 |
3.49e-8 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000107024
AA Change: D461V
PolyPhen 2
Score 0.507 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000102639
Gene: ENSMUSG00000034255
AA Change: D461V
| 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 null
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: ENSMUST00000139830
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144194
|
| 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: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Apmap |
A |
C |
2: 150,429,035 (GRCm39) |
M196R |
possibly damaging |
Het |
| Arl8b |
A |
C |
6: 108,795,506 (GRCm39) |
N148T |
probably benign |
Het |
| Baz1a |
A |
G |
12: 54,976,375 (GRCm39) |
F434L |
probably damaging |
Het |
| Birc2 |
A |
G |
9: 7,849,722 (GRCm39) |
|
probably benign |
Het |
| Brwd1 |
C |
A |
16: 95,822,458 (GRCm39) |
R1249I |
probably damaging |
Het |
| Cab39l |
T |
C |
14: 59,757,100 (GRCm39) |
F161L |
probably benign |
Het |
| Ccr8 |
A |
T |
9: 119,923,689 (GRCm39) |
D268V |
possibly damaging |
Het |
| Col25a1 |
A |
T |
3: 130,323,332 (GRCm39) |
|
probably benign |
Het |
| Cpn1 |
A |
G |
19: 43,974,693 (GRCm39) |
L12P |
possibly damaging |
Het |
| Dnah6 |
A |
G |
6: 73,121,987 (GRCm39) |
I1360T |
probably benign |
Het |
| Dnajb8 |
A |
G |
6: 88,200,013 (GRCm39) |
E183G |
probably damaging |
Het |
| Dpp8 |
T |
A |
9: 64,960,322 (GRCm39) |
|
probably null |
Het |
| Fsd1 |
C |
A |
17: 56,297,416 (GRCm39) |
|
probably null |
Het |
| Grina |
T |
A |
15: 76,132,162 (GRCm39) |
F28I |
possibly damaging |
Het |
| H2-M3 |
G |
A |
17: 37,583,324 (GRCm39) |
D262N |
possibly damaging |
Het |
| Hdgfl3 |
G |
A |
7: 81,543,587 (GRCm39) |
T188M |
probably damaging |
Het |
| Kif18b |
A |
G |
11: 102,805,086 (GRCm39) |
I353T |
probably damaging |
Het |
| Lrrc41 |
C |
A |
4: 115,945,728 (GRCm39) |
R148S |
probably benign |
Het |
| Lrrc8e |
T |
A |
8: 4,285,776 (GRCm39) |
L667Q |
probably damaging |
Het |
| Lrrk1 |
A |
G |
7: 65,912,638 (GRCm39) |
F1641L |
probably benign |
Het |
| Naaladl1 |
A |
T |
19: 6,162,386 (GRCm39) |
T443S |
probably benign |
Het |
| Naga |
C |
A |
15: 82,214,942 (GRCm39) |
V339F |
probably damaging |
Het |
| Nedd4l |
A |
G |
18: 65,338,741 (GRCm39) |
K702E |
probably damaging |
Het |
| Nwd2 |
T |
A |
5: 63,963,338 (GRCm39) |
L974H |
probably damaging |
Het |
| Parp14 |
A |
G |
16: 35,678,381 (GRCm39) |
M529T |
probably damaging |
Het |
| Parp8 |
A |
G |
13: 117,047,478 (GRCm39) |
V198A |
probably benign |
Het |
| Pcdhb19 |
A |
T |
18: 37,631,588 (GRCm39) |
H461L |
probably benign |
Het |
| Ppp6r1 |
T |
C |
7: 4,645,159 (GRCm39) |
D236G |
possibly damaging |
Het |
| Psg21 |
T |
C |
7: 18,388,843 (GRCm39) |
D83G |
probably benign |
Het |
| Ptpru |
A |
G |
4: 131,546,111 (GRCm39) |
C308R |
probably damaging |
Het |
| Ralgds |
T |
A |
2: 28,439,100 (GRCm39) |
S696T |
probably damaging |
Het |
| Rttn |
T |
A |
18: 89,033,274 (GRCm39) |
L695Q |
probably damaging |
Het |
| Scel |
A |
T |
14: 103,823,950 (GRCm39) |
I393F |
probably benign |
Het |
| Serpina3j |
T |
A |
12: 104,281,166 (GRCm39) |
I113N |
probably damaging |
Het |
| Slc4a3 |
C |
A |
1: 75,524,579 (GRCm39) |
|
probably benign |
Het |
| Slc6a11 |
A |
T |
6: 114,171,570 (GRCm39) |
|
probably null |
Het |
| Slc8a3 |
C |
T |
12: 81,249,023 (GRCm39) |
V802M |
probably damaging |
Het |
| Smarcal1 |
T |
A |
1: 72,655,660 (GRCm39) |
|
probably null |
Het |
| Tmprss11c |
A |
G |
5: 86,385,509 (GRCm39) |
V308A |
probably damaging |
Het |
| Trim10 |
A |
G |
17: 37,185,113 (GRCm39) |
R279G |
possibly damaging |
Het |
| Trim30a |
A |
G |
7: 104,060,348 (GRCm39) |
V476A |
probably damaging |
Het |
| Trio |
T |
C |
15: 27,832,097 (GRCm39) |
|
probably benign |
Het |
| Urgcp |
G |
A |
11: 5,666,091 (GRCm39) |
T749I |
possibly damaging |
Het |
| Vmn2r60 |
A |
G |
7: 41,786,018 (GRCm39) |
I274V |
probably benign |
Het |
| Vps11 |
A |
G |
9: 44,267,653 (GRCm39) |
F40L |
probably benign |
Het |
| Ywhab |
A |
G |
2: 163,857,195 (GRCm39) |
I157V |
probably benign |
Het |
| Zfp638 |
G |
A |
6: 83,919,857 (GRCm39) |
R485H |
probably damaging |
Het |
| Zfp944 |
A |
G |
17: 22,558,737 (GRCm39) |
I170T |
probably benign |
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 |
|
IGL02946:Arhgap27
|
APN |
11 |
103,229,174 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
2016-08-02 |
Incidental Mutation