Incidental Mutation 'IGL03051:Arhgap25'
| ID |
409062 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Arhgap25
|
| Ensembl Gene |
ENSMUSG00000030047 |
| Gene Name |
Rho GTPase activating protein 25 |
| Synonyms |
A130039I20Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL03051
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
87435527-87510241 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 87472896 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Arginine
at position 87
(Q87R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000109267
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000071024]
[ENSMUST00000101197]
[ENSMUST00000113637]
|
| AlphaFold |
Q8BYW1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000071024
|
| SMART Domains |
Protein: ENSMUSP00000068964
Gene: ENSMUSG00000030047
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:1V89|A
|
1 |
63 |
7e-33 |
PDB |
|
Blast:RhoGAP
|
16 |
66 |
9e-22 |
BLAST |
|
RhoGAP
|
86 |
262 |
6.28e-64 |
SMART |
|
coiled coil region
|
454 |
552 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000101197
AA Change: Q61R
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000098758
Gene: ENSMUSG00000030047
AA Change: Q61R
| Domain | Start | End | E-Value | Type |
|---|
|
PH
|
21 |
127 |
2.11e-21 |
SMART |
|
RhoGAP
|
149 |
325 |
6.28e-64 |
SMART |
|
coiled coil region
|
517 |
615 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000113637
AA Change: Q87R
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000109267
Gene: ENSMUSG00000030047
AA Change: Q87R
| Domain | Start | End | E-Value | Type |
|---|
|
PH
|
47 |
153 |
2.11e-21 |
SMART |
|
RhoGAP
|
175 |
351 |
6.28e-64 |
SMART |
|
coiled coil region
|
543 |
641 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145128
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] ARHGAPs, such as ARHGAP25, encode negative regulators of Rho GTPases (see ARHA; MIM 165390), which are implicated in actin remodeling, cell polarity, and cell migration (Katoh and Katoh, 2004 [PubMed 15254788]).[supplied by OMIM, Mar 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit altered leukocyte transendothelial migration. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aak1 |
G |
T |
6: 86,964,283 (GRCm39) |
|
probably benign |
Het |
| Abhd14a |
A |
T |
9: 106,321,128 (GRCm39) |
F76I |
possibly damaging |
Het |
| Acvr1b |
A |
G |
15: 101,100,959 (GRCm39) |
R374G |
probably damaging |
Het |
| Akap13 |
T |
A |
7: 75,260,233 (GRCm39) |
C149* |
probably null |
Het |
| Appbp2 |
A |
T |
11: 85,082,565 (GRCm39) |
D555E |
possibly damaging |
Het |
| Baz1b |
T |
A |
5: 135,246,079 (GRCm39) |
N509K |
probably benign |
Het |
| Ccn4 |
T |
A |
15: 66,778,399 (GRCm39) |
C73* |
probably null |
Het |
| Ces5a |
C |
A |
8: 94,255,226 (GRCm39) |
G156C |
probably damaging |
Het |
| Chtf18 |
G |
A |
17: 25,939,938 (GRCm39) |
R723W |
probably damaging |
Het |
| Clec4e |
A |
G |
6: 123,266,692 (GRCm39) |
S6P |
probably benign |
Het |
| Dennd4a |
A |
G |
9: 64,769,696 (GRCm39) |
I468V |
probably damaging |
Het |
| Epb41l4a |
A |
T |
18: 34,007,825 (GRCm39) |
Y233N |
probably damaging |
Het |
| Fam210b |
C |
T |
2: 172,194,612 (GRCm39) |
H155Y |
probably benign |
Het |
| Frmd4b |
A |
T |
6: 97,272,943 (GRCm39) |
C770* |
probably null |
Het |
| Gpa33 |
A |
G |
1: 165,992,790 (GRCm39) |
H301R |
probably benign |
Het |
| Gpr39 |
T |
A |
1: 125,605,485 (GRCm39) |
C138S |
probably damaging |
Het |
| Gtf2i |
T |
A |
5: 134,271,768 (GRCm39) |
K858* |
probably null |
Het |
| Ighv7-1 |
A |
T |
12: 113,860,576 (GRCm39) |
|
probably benign |
Het |
| Iglv1 |
T |
C |
16: 18,903,973 (GRCm39) |
T49A |
possibly damaging |
Het |
| Kif17 |
A |
C |
4: 138,016,565 (GRCm39) |
D416A |
probably damaging |
Het |
| Mib2 |
T |
C |
4: 155,741,747 (GRCm39) |
T431A |
probably damaging |
Het |
| Mpz |
G |
A |
1: 170,986,380 (GRCm39) |
R98H |
probably damaging |
Het |
| Naa16 |
T |
C |
14: 79,606,522 (GRCm39) |
E337G |
probably benign |
Het |
| Odam |
G |
A |
5: 88,040,335 (GRCm39) |
|
probably benign |
Het |
| Or1e1f |
T |
A |
11: 73,855,860 (GRCm39) |
L142H |
probably benign |
Het |
| Parp2 |
T |
C |
14: 51,056,805 (GRCm39) |
|
probably benign |
Het |
| Pcdh7 |
T |
G |
5: 58,286,415 (GRCm39) |
S1164A |
probably damaging |
Het |
| Pkp4 |
G |
T |
2: 59,142,106 (GRCm39) |
A470S |
probably benign |
Het |
| Plin4 |
A |
T |
17: 56,412,417 (GRCm39) |
M538K |
possibly damaging |
Het |
| Prex2 |
T |
C |
1: 11,212,889 (GRCm39) |
V624A |
probably damaging |
Het |
| Rps6ka5 |
A |
C |
12: 100,582,250 (GRCm39) |
|
probably null |
Het |
| Simc1 |
T |
C |
13: 54,674,036 (GRCm39) |
S795P |
probably benign |
Het |
| Slc35b4 |
A |
T |
6: 34,137,406 (GRCm39) |
|
probably null |
Het |
| Stxbp2 |
A |
T |
8: 3,691,971 (GRCm39) |
I538F |
probably benign |
Het |
| Syt14 |
T |
C |
1: 192,615,528 (GRCm39) |
N486S |
probably benign |
Het |
| Trim59 |
T |
C |
3: 68,944,206 (GRCm39) |
N378S |
probably benign |
Het |
| Wdr17 |
T |
A |
8: 55,104,349 (GRCm39) |
D908V |
probably damaging |
Het |
| Wdr74 |
A |
G |
19: 8,716,875 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Arhgap25 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01454:Arhgap25
|
APN |
6 |
87,473,058 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
IGL02112:Arhgap25
|
APN |
6 |
87,444,919 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R0462:Arhgap25
|
UTSW |
6 |
87,436,942 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R1636:Arhgap25
|
UTSW |
6 |
87,472,923 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1777:Arhgap25
|
UTSW |
6 |
87,440,289 (GRCm39) |
missense |
probably benign |
0.41 |
|
R2077:Arhgap25
|
UTSW |
6 |
87,436,990 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2845:Arhgap25
|
UTSW |
6 |
87,436,949 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R4091:Arhgap25
|
UTSW |
6 |
87,440,017 (GRCm39) |
missense |
probably benign |
|
|
R4435:Arhgap25
|
UTSW |
6 |
87,439,920 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R4773:Arhgap25
|
UTSW |
6 |
87,473,053 (GRCm39) |
missense |
probably benign |
|
|
R5121:Arhgap25
|
UTSW |
6 |
87,509,846 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5169:Arhgap25
|
UTSW |
6 |
87,440,252 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R5334:Arhgap25
|
UTSW |
6 |
87,440,243 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R5726:Arhgap25
|
UTSW |
6 |
87,440,441 (GRCm39) |
missense |
probably benign |
|
|
R6696:Arhgap25
|
UTSW |
6 |
87,443,545 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6696:Arhgap25
|
UTSW |
6 |
87,442,633 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7947:Arhgap25
|
UTSW |
6 |
87,440,069 (GRCm39) |
missense |
probably benign |
0.32 |
|
R8113:Arhgap25
|
UTSW |
6 |
87,465,287 (GRCm39) |
nonsense |
probably null |
|
|
R9110:Arhgap25
|
UTSW |
6 |
87,453,254 (GRCm39) |
missense |
probably benign |
0.07 |
|
R9500:Arhgap25
|
UTSW |
6 |
87,469,184 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9591:Arhgap25
|
UTSW |
6 |
87,440,102 (GRCm39) |
missense |
probably benign |
|
|
Z1176:Arhgap25
|
UTSW |
6 |
87,453,168 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2016-08-02 |
Incidental Mutation