Incidental Mutation 'IGL01876:Arhgap1'
| ID |
178895 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Arhgap1
|
| Ensembl Gene |
ENSMUSG00000027247 |
| Gene Name |
Rho GTPase activating protein 1 |
| Synonyms |
Cdc42GAP, B230365D05Rik, p50rhoGAP |
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.348)
|
| Stock # |
IGL01876
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
91480463-91502670 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
A to G
at 91480564 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000088105
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000090614]
[ENSMUST00000099714]
[ENSMUST00000111329]
[ENSMUST00000111330]
[ENSMUST00000111331]
[ENSMUST00000111333]
[ENSMUST00000145582]
|
| AlphaFold |
Q5FWK3 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000090614
|
| SMART Domains |
Protein: ENSMUSP00000088105
Gene: ENSMUSG00000027247
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
4 |
18 |
N/A |
INTRINSIC |
|
low complexity region
|
42 |
52 |
N/A |
INTRINSIC |
|
SEC14
|
64 |
215 |
5.08e-25 |
SMART |
|
low complexity region
|
224 |
238 |
N/A |
INTRINSIC |
|
RhoGAP
|
257 |
428 |
1.06e-61 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000099714
|
| SMART Domains |
Protein: ENSMUSP00000097301
Gene: ENSMUSG00000075040
| Domain | Start | End | E-Value | Type |
|---|
|
ZnF_C2H2
|
344 |
366 |
7.05e-1 |
SMART |
|
ZnF_C2H2
|
372 |
394 |
1.67e-2 |
SMART |
|
ZnF_C2H2
|
400 |
422 |
2.24e-3 |
SMART |
|
ZnF_C2H2
|
428 |
450 |
8.6e-5 |
SMART |
|
ZnF_C2H2
|
459 |
481 |
5.9e-3 |
SMART |
|
ZnF_C2H2
|
487 |
509 |
4.87e-4 |
SMART |
|
ZnF_C2H2
|
515 |
537 |
2.95e-3 |
SMART |
|
ZnF_C2H2
|
542 |
564 |
2.2e-2 |
SMART |
|
ZnF_C2H2
|
570 |
592 |
1.69e-3 |
SMART |
|
ZnF_C2H2
|
598 |
620 |
3.89e-3 |
SMART |
|
low complexity region
|
625 |
638 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000111329
|
| SMART Domains |
Protein: ENSMUSP00000106961
Gene: ENSMUSG00000027247
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
4 |
18 |
N/A |
INTRINSIC |
|
low complexity region
|
42 |
52 |
N/A |
INTRINSIC |
|
SEC14
|
64 |
215 |
5.08e-25 |
SMART |
|
low complexity region
|
224 |
238 |
N/A |
INTRINSIC |
|
RhoGAP
|
257 |
428 |
1.06e-61 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000111330
|
| SMART Domains |
Protein: ENSMUSP00000106962
Gene: ENSMUSG00000027247
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
4 |
18 |
N/A |
INTRINSIC |
|
low complexity region
|
42 |
52 |
N/A |
INTRINSIC |
|
SEC14
|
64 |
215 |
5.08e-25 |
SMART |
|
low complexity region
|
224 |
238 |
N/A |
INTRINSIC |
|
RhoGAP
|
257 |
428 |
1.06e-61 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000111331
AA Change: T29A
PolyPhen 2
Score 0.528 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000106963
Gene: ENSMUSG00000027247
AA Change: T29A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
44 |
58 |
N/A |
INTRINSIC |
|
low complexity region
|
82 |
92 |
N/A |
INTRINSIC |
|
SEC14
|
104 |
255 |
5.08e-25 |
SMART |
|
low complexity region
|
264 |
278 |
N/A |
INTRINSIC |
|
RhoGAP
|
297 |
468 |
1.06e-61 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000111333
|
| SMART Domains |
Protein: ENSMUSP00000106965
Gene: ENSMUSG00000075040
| Domain | Start | End | E-Value | Type |
|---|
|
ZnF_C2H2
|
244 |
266 |
7.05e-1 |
SMART |
|
ZnF_C2H2
|
272 |
294 |
1.67e-2 |
SMART |
|
ZnF_C2H2
|
300 |
322 |
2.24e-3 |
SMART |
|
ZnF_C2H2
|
328 |
350 |
8.6e-5 |
SMART |
|
ZnF_C2H2
|
359 |
381 |
5.9e-3 |
SMART |
|
ZnF_C2H2
|
387 |
409 |
4.87e-4 |
SMART |
|
ZnF_C2H2
|
415 |
437 |
2.95e-3 |
SMART |
|
ZnF_C2H2
|
442 |
464 |
2.2e-2 |
SMART |
|
ZnF_C2H2
|
470 |
492 |
1.69e-3 |
SMART |
|
ZnF_C2H2
|
498 |
520 |
3.89e-3 |
SMART |
|
low complexity region
|
525 |
538 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000127702
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152769
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154468
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139314
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141012
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155045
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000145582
|
| 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 contains a SRC homology 3 domain and interacts with Bcl-2-associated protein family members. [provided by RefSeq, Aug 2012]
PHENOTYPE: Homozygous null mice display incomplete penetrance of postnatal lethality, increased apoptosis, and growth retardation. [provided by MGI curators]
|
| Allele List at MGI |
All alleles(28) : Targeted(1) Gene trapped(27)
|
| Other mutations in this stock |
Total: 24 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aoc1l3 |
A |
T |
6: 48,966,970 (GRCm39) |
R639S |
possibly damaging |
Het |
| Aopep |
T |
C |
13: 63,338,336 (GRCm39) |
S570P |
probably damaging |
Het |
| Ap3b2 |
T |
A |
7: 81,123,602 (GRCm39) |
|
probably null |
Het |
| Api5 |
A |
G |
2: 94,249,299 (GRCm39) |
|
probably benign |
Het |
| Cip2a |
T |
C |
16: 48,822,041 (GRCm39) |
V223A |
probably damaging |
Het |
| Cldn6 |
G |
T |
17: 23,900,158 (GRCm39) |
V41F |
probably damaging |
Het |
| Dctn1 |
G |
T |
6: 83,174,903 (GRCm39) |
V1032L |
probably damaging |
Het |
| Eef2 |
T |
A |
10: 81,016,104 (GRCm39) |
F488L |
probably benign |
Het |
| Fars2 |
A |
G |
13: 36,721,285 (GRCm39) |
T410A |
probably benign |
Het |
| Hnrnpc |
T |
C |
14: 52,319,330 (GRCm39) |
N91S |
probably null |
Het |
| Magel2 |
T |
C |
7: 62,028,575 (GRCm39) |
V493A |
possibly damaging |
Het |
| Odr4 |
G |
T |
1: 150,258,089 (GRCm39) |
T182N |
probably benign |
Het |
| Or4c117 |
A |
T |
2: 88,956,081 (GRCm39) |
|
probably null |
Het |
| Or5ac17 |
A |
G |
16: 59,036,382 (GRCm39) |
V198A |
possibly damaging |
Het |
| Pcnx2 |
G |
T |
8: 126,592,770 (GRCm39) |
S731R |
probably benign |
Het |
| Plekhm1 |
A |
G |
11: 103,267,577 (GRCm39) |
L798P |
probably damaging |
Het |
| Prkd1 |
T |
C |
12: 50,413,131 (GRCm39) |
E680G |
probably damaging |
Het |
| Rabggta |
T |
C |
14: 55,956,128 (GRCm39) |
T140A |
probably damaging |
Het |
| Slc2a1 |
G |
A |
4: 118,990,575 (GRCm39) |
D236N |
probably benign |
Het |
| Sp140l2 |
A |
G |
1: 85,231,907 (GRCm39) |
|
probably benign |
Het |
| Sptlc1 |
C |
A |
13: 53,528,048 (GRCm39) |
V39F |
probably benign |
Het |
| Vmn1r6 |
A |
G |
6: 56,979,446 (GRCm39) |
K36R |
probably benign |
Het |
| Vmn2r129 |
C |
T |
4: 156,690,549 (GRCm39) |
|
noncoding transcript |
Het |
| Wdpcp |
T |
A |
11: 21,763,383 (GRCm39) |
D581E |
possibly damaging |
Het |
|
| Other mutations in Arhgap1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02283:Arhgap1
|
APN |
2 |
91,501,121 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02540:Arhgap1
|
APN |
2 |
91,500,584 (GRCm39) |
missense |
probably damaging |
1.00 |
|
P0012:Arhgap1
|
UTSW |
2 |
91,500,608 (GRCm39) |
missense |
probably benign |
0.00 |
|
P0041:Arhgap1
|
UTSW |
2 |
91,499,738 (GRCm39) |
missense |
probably benign |
0.03 |
|
R0049:Arhgap1
|
UTSW |
2 |
91,500,514 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0049:Arhgap1
|
UTSW |
2 |
91,500,514 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1385:Arhgap1
|
UTSW |
2 |
91,501,176 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4386:Arhgap1
|
UTSW |
2 |
91,498,582 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5774:Arhgap1
|
UTSW |
2 |
91,484,453 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R6985:Arhgap1
|
UTSW |
2 |
91,498,543 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8855:Arhgap1
|
UTSW |
2 |
91,499,744 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8866:Arhgap1
|
UTSW |
2 |
91,499,744 (GRCm39) |
missense |
probably benign |
0.01 |
|
Z1176:Arhgap1
|
UTSW |
2 |
91,480,559 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
| Posted On |
2014-05-07 |
Incidental Mutation