Incidental Mutation 'R6696:Arhgap25'
| ID |
528578 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Arhgap25
|
| Ensembl Gene |
ENSMUSG00000030047 |
| Gene Name |
Rho GTPase activating protein 25 |
| Synonyms |
A130039I20Rik |
| MMRRC Submission |
044814-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6696 (G1)
|
| Quality Score |
100.008 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
87435527-87510241 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 87443545 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Phenylalanine
at position 305
(V305F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000109267
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000071024]
[ENSMUST00000101197]
[ENSMUST00000113637]
|
| AlphaFold |
Q8BYW1 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000071024
AA Change: V216F
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000068964
Gene: ENSMUSG00000030047
AA Change: V216F
| 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 damaging
Transcript: ENSMUST00000101197
AA Change: V279F
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000098758
Gene: ENSMUSG00000030047
AA Change: V279F
| 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 damaging
Transcript: ENSMUST00000113637
AA Change: V305F
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000109267
Gene: ENSMUSG00000030047
AA Change: V305F
| 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
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000203559
|
| Meta Mutation Damage Score |
0.3747 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.2%
- 20x: 95.0%
|
| Validation Efficiency |
100% (48/48) |
| 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: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Atg3 |
A |
T |
16: 44,995,644 (GRCm39) |
I126F |
possibly damaging |
Het |
| Best2 |
A |
T |
8: 85,737,873 (GRCm39) |
L174* |
probably null |
Het |
| Ccdc134 |
T |
A |
15: 82,015,722 (GRCm39) |
D67E |
probably damaging |
Het |
| Coasy |
G |
T |
11: 100,973,927 (GRCm39) |
R31L |
possibly damaging |
Het |
| Col5a3 |
C |
T |
9: 20,690,329 (GRCm39) |
G1162R |
probably damaging |
Het |
| Dhrs7l |
C |
T |
12: 72,666,255 (GRCm39) |
A139T |
possibly damaging |
Het |
| Eipr1 |
C |
A |
12: 28,909,357 (GRCm39) |
T208N |
probably benign |
Het |
| Epha2 |
A |
G |
4: 141,048,850 (GRCm39) |
T606A |
probably benign |
Het |
| Fan1 |
A |
T |
7: 63,999,826 (GRCm39) |
I853N |
probably damaging |
Het |
| Fbxw18 |
A |
C |
9: 109,517,832 (GRCm39) |
S385A |
probably benign |
Het |
| Galnt11 |
T |
C |
5: 25,460,112 (GRCm39) |
V307A |
probably benign |
Het |
| Gata3 |
A |
T |
2: 9,879,303 (GRCm39) |
Y224* |
probably null |
Het |
| Gm527 |
T |
C |
12: 64,967,866 (GRCm39) |
M96T |
possibly damaging |
Het |
| Hivep2 |
T |
C |
10: 14,009,503 (GRCm39) |
F1720S |
probably benign |
Het |
| Hltf |
T |
G |
3: 20,119,470 (GRCm39) |
|
probably null |
Het |
| Imp4 |
T |
C |
1: 34,483,327 (GRCm39) |
V247A |
probably benign |
Het |
| Iqca1 |
G |
A |
1: 90,057,922 (GRCm39) |
T259I |
probably benign |
Het |
| Klra6 |
A |
G |
6: 129,993,696 (GRCm39) |
F192L |
probably benign |
Het |
| Lnp1 |
T |
C |
16: 56,748,149 (GRCm39) |
K48E |
possibly damaging |
Het |
| Lrp4 |
A |
G |
2: 91,327,690 (GRCm39) |
D1513G |
probably benign |
Het |
| Lrrc25 |
G |
A |
8: 71,071,015 (GRCm39) |
|
probably null |
Het |
| Macf1 |
T |
A |
4: 123,403,596 (GRCm39) |
Y590F |
probably damaging |
Het |
| Mms19 |
C |
A |
19: 41,942,452 (GRCm39) |
V359L |
probably benign |
Het |
| Mns1 |
G |
A |
9: 72,360,044 (GRCm39) |
R398Q |
probably damaging |
Het |
| Myo1c |
C |
T |
11: 75,562,461 (GRCm39) |
P918S |
probably benign |
Het |
| Nme3 |
G |
T |
17: 25,116,268 (GRCm39) |
C158F |
possibly damaging |
Het |
| Pam |
T |
A |
1: 97,813,452 (GRCm39) |
H326L |
possibly damaging |
Het |
| Plcxd1 |
A |
G |
5: 110,249,751 (GRCm39) |
N151S |
possibly damaging |
Het |
| Prep |
A |
T |
10: 45,029,174 (GRCm39) |
N525Y |
probably damaging |
Het |
| Rab11fip5 |
T |
C |
6: 85,318,928 (GRCm39) |
I654V |
possibly damaging |
Het |
| Sbf2 |
T |
A |
7: 110,159,505 (GRCm39) |
Q35L |
probably benign |
Het |
| Shcbp1 |
A |
G |
8: 4,789,262 (GRCm39) |
F519S |
probably damaging |
Het |
| Slc18a3 |
T |
C |
14: 32,186,270 (GRCm39) |
I38V |
possibly damaging |
Het |
| Slc5a2 |
A |
T |
7: 127,869,215 (GRCm39) |
I332F |
probably damaging |
Het |
| Slc7a7 |
C |
T |
14: 54,615,218 (GRCm39) |
|
probably null |
Het |
| Srbd1 |
C |
T |
17: 86,446,619 (GRCm39) |
V47I |
possibly damaging |
Het |
| Synj1 |
C |
G |
16: 90,757,340 (GRCm39) |
V877L |
probably damaging |
Het |
| Tgfbr3 |
C |
T |
5: 107,284,796 (GRCm39) |
V618I |
probably benign |
Het |
| Tmem191 |
C |
T |
16: 17,100,886 (GRCm39) |
|
probably null |
Het |
| Tmem67 |
C |
A |
4: 12,061,754 (GRCm39) |
|
probably null |
Het |
| Tmem94 |
C |
T |
11: 115,682,814 (GRCm39) |
A617V |
probably damaging |
Het |
| Vmn1r71 |
T |
A |
7: 10,482,401 (GRCm39) |
I96F |
probably damaging |
Het |
| Vmn2r7 |
A |
T |
3: 64,614,495 (GRCm39) |
F440I |
probably benign |
Het |
| Wdr7 |
A |
G |
18: 63,872,401 (GRCm39) |
Q445R |
probably benign |
Het |
| Wnk1 |
A |
G |
6: 119,925,243 (GRCm39) |
L1407P |
probably damaging |
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 |
|
IGL03051:Arhgap25
|
APN |
6 |
87,472,896 (GRCm39) |
missense |
probably null |
1.00 |
|
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 |
87,442,633 (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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GAGGTCAAGTAGGCAAGCTC -3'
(R):5'- CCTTGGTCTGTGAACTTCCAG -3'
Sequencing Primer
(F):5'- TCGGTAAGCGGCAGGACATC -3'
(R):5'- TTCCAGAAAGTCTTGCAGGC -3'
|
| Posted On |
2018-07-24 |
Incidental Mutation