Incidental Mutation 'IGL02283:Arhgap1'
| ID |
289902 |
| 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 # |
IGL02283
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
91480463-91502670 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 91501121 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 399
(N399S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000106962
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028678]
[ENSMUST00000076803]
[ENSMUST00000090614]
[ENSMUST00000111329]
[ENSMUST00000111330]
[ENSMUST00000111331]
|
| AlphaFold |
Q5FWK3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000028678
|
| SMART Domains |
Protein: ENSMUSP00000028678
Gene: ENSMUSG00000027244
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ATG13
|
77 |
195 |
1.5e-10 |
PFAM |
|
low complexity region
|
252 |
269 |
N/A |
INTRINSIC |
|
low complexity region
|
423 |
442 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000076803
|
| SMART Domains |
Protein: ENSMUSP00000076081
Gene: ENSMUSG00000027244
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ATG13
|
17 |
195 |
1.1e-35 |
PFAM |
|
low complexity region
|
386 |
405 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000090614
AA Change: N399S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000088105
Gene: ENSMUSG00000027247
AA Change: N399S
| 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 damaging
Transcript: ENSMUST00000111329
AA Change: N399S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000106961
Gene: ENSMUSG00000027247
AA Change: N399S
| 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 damaging
Transcript: ENSMUST00000111330
AA Change: N399S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000106962
Gene: ENSMUSG00000027247
AA Change: N399S
| 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 damaging
Transcript: ENSMUST00000111331
AA Change: N439S
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000106963
Gene: ENSMUSG00000027247
AA Change: N439S
| 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 |
noncoding transcript
Transcript: ENSMUST00000123702
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149426
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141012
|
| 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: 26 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aldh1l2 |
T |
C |
10: 83,331,759 (GRCm39) |
Y682C |
probably benign |
Het |
| Ank1 |
G |
A |
8: 23,609,450 (GRCm39) |
|
probably null |
Het |
| Atp8a2 |
A |
T |
14: 60,254,248 (GRCm39) |
I511N |
possibly damaging |
Het |
| Birc6 |
T |
A |
17: 74,906,935 (GRCm39) |
C1428S |
probably benign |
Het |
| Col18a1 |
T |
C |
10: 76,948,943 (GRCm39) |
T190A |
possibly damaging |
Het |
| Cpd |
A |
T |
11: 76,731,251 (GRCm39) |
D318E |
probably benign |
Het |
| Dync2h1 |
A |
T |
9: 7,125,912 (GRCm39) |
V1898E |
probably damaging |
Het |
| Gon4l |
T |
C |
3: 88,802,671 (GRCm39) |
M1095T |
probably damaging |
Het |
| Gypa |
G |
A |
8: 81,220,721 (GRCm39) |
|
probably benign |
Het |
| Irf9 |
G |
A |
14: 55,845,196 (GRCm39) |
R352H |
probably damaging |
Het |
| Macf1 |
T |
C |
4: 123,365,168 (GRCm39) |
T1633A |
probably benign |
Het |
| Mars2 |
T |
C |
1: 55,277,933 (GRCm39) |
V512A |
probably damaging |
Het |
| Myo9a |
A |
G |
9: 59,778,956 (GRCm39) |
N1571D |
probably benign |
Het |
| Myrfl |
T |
C |
10: 116,613,265 (GRCm39) |
D846G |
probably benign |
Het |
| Or2ak6 |
A |
T |
11: 58,593,102 (GRCm39) |
T192S |
probably damaging |
Het |
| Or2y1b |
A |
G |
11: 49,209,162 (GRCm39) |
D263G |
probably benign |
Het |
| Or4d11 |
A |
G |
19: 12,013,219 (GRCm39) |
S296P |
possibly damaging |
Het |
| Or7a41 |
T |
C |
10: 78,871,379 (GRCm39) |
S250P |
probably damaging |
Het |
| Rprd2 |
A |
T |
3: 95,672,815 (GRCm39) |
S863T |
probably damaging |
Het |
| Sdf4 |
T |
A |
4: 156,093,293 (GRCm39) |
N208K |
probably benign |
Het |
| Sftpd |
A |
T |
14: 40,894,423 (GRCm39) |
V332D |
probably benign |
Het |
| Sh2b3 |
T |
C |
5: 121,956,718 (GRCm39) |
D321G |
probably benign |
Het |
| Slc45a2 |
T |
A |
15: 11,001,268 (GRCm39) |
N122K |
probably damaging |
Het |
| Slk |
T |
A |
19: 47,630,432 (GRCm39) |
F1170Y |
probably damaging |
Het |
| Spata7 |
A |
C |
12: 98,624,517 (GRCm39) |
T140P |
probably damaging |
Het |
| Vmn2r117 |
A |
G |
17: 23,694,356 (GRCm39) |
L497S |
probably damaging |
Het |
|
| Other mutations in Arhgap1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01876:Arhgap1
|
APN |
2 |
91,480,564 (GRCm39) |
splice site |
probably null |
|
|
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 |
2015-04-16 |
Incidental Mutation