Incidental Mutation 'IGL02316:Arhgap26'
| ID |
288042 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Arhgap26
|
| Ensembl Gene |
ENSMUSG00000036452 |
| Gene Name |
Rho GTPase activating protein 26 |
| Synonyms |
4933432P15Rik, 2610010G17Rik, 1810044B20Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL02316
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
18 |
| Chromosomal Location |
38734531-39509338 bp(+) (GRCm39) |
| Type of Mutation |
exon |
| DNA Base Change (assembly) |
C to T
at 38775599 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Gene Model |
predicted gene model for transcript(s):
|
| AlphaFold |
Q6ZQ82 |
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000127448
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145090
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149112
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Interaction of a cell with the extracellular matrix triggers integrin cell surface receptors to begin signaling cascades that regulate the organization of the actin-cytoskeleton. One of the proteins involved in these cascades is focal adhesion kinase. The protein encoded by this gene is a GTPase activating protein that binds to focal adhesion kinase and mediates the activity of the GTP binding proteins RhoA and Cdc42. Defects in this gene are a cause of juvenile myelomonocytic leukemia (JMML). Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2017]
PHENOTYPE: Mice homozygous for a hypomorphic allele display reduced myofiber size, impaired myoblast fusion and abnormal muscle regeneration. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Akr1c13 |
G |
T |
13: 4,253,458 (GRCm39) |
|
probably benign |
Het |
| Atp5f1b |
T |
C |
10: 127,920,178 (GRCm39) |
V108A |
probably benign |
Het |
| B230307C23Rik |
G |
A |
16: 97,809,850 (GRCm39) |
V9M |
probably damaging |
Het |
| Ccdc85c |
T |
A |
12: 108,177,829 (GRCm39) |
H321L |
probably damaging |
Het |
| Diaph3 |
A |
T |
14: 87,223,551 (GRCm39) |
M321K |
possibly damaging |
Het |
| Dicer1 |
G |
A |
12: 104,668,812 (GRCm39) |
A1290V |
probably damaging |
Het |
| Dnah6 |
G |
A |
6: 73,145,894 (GRCm39) |
T839M |
probably benign |
Het |
| Eif3a |
G |
A |
19: 60,760,076 (GRCm39) |
|
probably benign |
Het |
| Eml1 |
T |
C |
12: 108,501,018 (GRCm39) |
|
probably benign |
Het |
| Exoc4 |
A |
G |
6: 33,887,519 (GRCm39) |
Q769R |
probably damaging |
Het |
| Fam184a |
T |
G |
10: 53,514,335 (GRCm39) |
T426P |
probably damaging |
Het |
| Fsip2 |
C |
A |
2: 82,809,137 (GRCm39) |
H1819N |
probably benign |
Het |
| Gm6686 |
T |
A |
17: 15,786,500 (GRCm39) |
|
probably benign |
Het |
| Hadha |
T |
C |
5: 30,331,565 (GRCm39) |
S464G |
probably benign |
Het |
| Ighv5-17 |
A |
T |
12: 113,822,775 (GRCm39) |
C115* |
probably null |
Het |
| Jmjd6 |
T |
C |
11: 116,733,928 (GRCm39) |
Y31C |
possibly damaging |
Het |
| Klrb1-ps1 |
G |
A |
6: 129,093,532 (GRCm39) |
|
noncoding transcript |
Het |
| Mgat1 |
T |
C |
11: 49,152,185 (GRCm39) |
Y223H |
probably damaging |
Het |
| Muc4 |
T |
C |
16: 32,569,668 (GRCm39) |
S243P |
possibly damaging |
Het |
| Numa1 |
T |
C |
7: 101,650,577 (GRCm39) |
L69P |
probably damaging |
Het |
| Or11h6 |
T |
C |
14: 50,879,744 (GRCm39) |
I2T |
probably benign |
Het |
| Or1j21 |
A |
T |
2: 36,683,632 (GRCm39) |
H128L |
probably damaging |
Het |
| Or1j4 |
C |
A |
2: 36,740,294 (GRCm39) |
P79T |
probably damaging |
Het |
| Or4p23 |
A |
G |
2: 88,577,187 (GRCm39) |
F15S |
probably damaging |
Het |
| Pde1c |
A |
T |
6: 56,128,336 (GRCm39) |
D332E |
possibly damaging |
Het |
| Pitpnm1 |
A |
G |
19: 4,162,835 (GRCm39) |
I1143V |
probably benign |
Het |
| Rsl1 |
T |
A |
13: 67,325,120 (GRCm39) |
|
probably null |
Het |
| Scg2 |
A |
C |
1: 79,413,398 (GRCm39) |
L442V |
probably damaging |
Het |
| Sez6l |
A |
T |
5: 112,610,828 (GRCm39) |
V530E |
probably damaging |
Het |
| Ubr4 |
T |
C |
4: 139,200,489 (GRCm39) |
I4655T |
possibly damaging |
Het |
| Zcwpw1 |
T |
C |
5: 137,808,272 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Arhgap26 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00706:Arhgap26
|
APN |
18 |
39,419,604 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01116:Arhgap26
|
APN |
18 |
39,244,856 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL01409:Arhgap26
|
APN |
18 |
39,243,504 (GRCm39) |
splice site |
probably benign |
|
|
IGL02418:Arhgap26
|
APN |
18 |
39,490,620 (GRCm39) |
intron |
probably benign |
|
|
IGL02588:Arhgap26
|
APN |
18 |
38,734,670 (GRCm39) |
unclassified |
probably benign |
|
|
IGL03241:Arhgap26
|
APN |
18 |
39,362,970 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0184:Arhgap26
|
UTSW |
18 |
38,750,726 (GRCm39) |
missense |
unknown |
|
|
R0244:Arhgap26
|
UTSW |
18 |
39,496,184 (GRCm39) |
missense |
probably benign |
0.05 |
|
R0347:Arhgap26
|
UTSW |
18 |
38,750,797 (GRCm39) |
missense |
unknown |
|
|
R1533:Arhgap26
|
UTSW |
18 |
39,504,130 (GRCm39) |
missense |
probably benign |
0.16 |
|
R1606:Arhgap26
|
UTSW |
18 |
39,429,925 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2066:Arhgap26
|
UTSW |
18 |
39,439,781 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2182:Arhgap26
|
UTSW |
18 |
39,490,862 (GRCm39) |
intron |
probably benign |
|
|
R2291:Arhgap26
|
UTSW |
18 |
39,490,751 (GRCm39) |
intron |
probably benign |
|
|
R3611:Arhgap26
|
UTSW |
18 |
39,066,972 (GRCm39) |
missense |
probably benign |
|
|
R3700:Arhgap26
|
UTSW |
18 |
39,253,237 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3887:Arhgap26
|
UTSW |
18 |
39,363,019 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4621:Arhgap26
|
UTSW |
18 |
39,032,894 (GRCm39) |
intron |
probably benign |
|
|
R4877:Arhgap26
|
UTSW |
18 |
39,429,982 (GRCm39) |
splice site |
probably null |
|
|
R4910:Arhgap26
|
UTSW |
18 |
39,126,690 (GRCm39) |
splice site |
probably benign |
|
|
R4911:Arhgap26
|
UTSW |
18 |
39,126,690 (GRCm39) |
splice site |
probably benign |
|
|
R4954:Arhgap26
|
UTSW |
18 |
39,376,694 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4967:Arhgap26
|
UTSW |
18 |
39,379,893 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5221:Arhgap26
|
UTSW |
18 |
39,243,525 (GRCm39) |
nonsense |
probably null |
|
|
R5232:Arhgap26
|
UTSW |
18 |
39,126,529 (GRCm39) |
start codon destroyed |
probably null |
0.97 |
|
R5297:Arhgap26
|
UTSW |
18 |
39,254,941 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5372:Arhgap26
|
UTSW |
18 |
38,775,509 (GRCm39) |
exon |
noncoding transcript |
|
|
R5570:Arhgap26
|
UTSW |
18 |
39,232,671 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5692:Arhgap26
|
UTSW |
18 |
39,254,945 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5752:Arhgap26
|
UTSW |
18 |
39,419,725 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5930:Arhgap26
|
UTSW |
18 |
39,283,145 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R6131:Arhgap26
|
UTSW |
18 |
39,419,638 (GRCm39) |
nonsense |
probably null |
|
|
R6251:Arhgap26
|
UTSW |
18 |
39,490,880 (GRCm39) |
missense |
probably null |
|
|
R6481:Arhgap26
|
UTSW |
18 |
39,283,110 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6622:Arhgap26
|
UTSW |
18 |
39,032,916 (GRCm39) |
intron |
probably benign |
|
|
R6799:Arhgap26
|
UTSW |
18 |
39,232,660 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6878:Arhgap26
|
UTSW |
18 |
39,360,465 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6989:Arhgap26
|
UTSW |
18 |
39,232,682 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7248:Arhgap26
|
UTSW |
18 |
39,439,907 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7936:Arhgap26
|
UTSW |
18 |
39,338,340 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7960:Arhgap26
|
UTSW |
18 |
39,362,980 (GRCm39) |
missense |
|
|
|
R8103:Arhgap26
|
UTSW |
18 |
39,504,177 (GRCm39) |
missense |
|
|
|
R8206:Arhgap26
|
UTSW |
18 |
39,439,803 (GRCm39) |
nonsense |
probably null |
|
|
R8356:Arhgap26
|
UTSW |
18 |
39,244,901 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R8456:Arhgap26
|
UTSW |
18 |
39,244,901 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R8987:Arhgap26
|
UTSW |
18 |
39,490,652 (GRCm39) |
missense |
|
|
|
R9025:Arhgap26
|
UTSW |
18 |
39,379,898 (GRCm39) |
missense |
|
|
|
R9149:Arhgap26
|
UTSW |
18 |
39,244,917 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R9172:Arhgap26
|
UTSW |
18 |
39,378,382 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9191:Arhgap26
|
UTSW |
18 |
39,439,893 (GRCm39) |
missense |
|
|
|
R9576:Arhgap26
|
UTSW |
18 |
39,253,207 (GRCm39) |
nonsense |
probably null |
|
|
X0013:Arhgap26
|
UTSW |
18 |
39,504,165 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0025:Arhgap26
|
UTSW |
18 |
39,283,158 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1088:Arhgap26
|
UTSW |
18 |
39,490,724 (GRCm39) |
splice site |
probably benign |
|
|
| Posted On |
2015-04-16 |
Incidental Mutation