Incidental Mutation 'IGL01116:Arhgap26'
| ID |
53189 |
| 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 # |
IGL01116
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
18 |
| Chromosomal Location |
38734531-39509338 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 39244856 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 167
(V167A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000095200
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000097593]
[ENSMUST00000148850]
[ENSMUST00000155576]
|
| AlphaFold |
Q6ZQ82 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000097593
AA Change: V167A
PolyPhen 2
Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000095200
Gene: ENSMUSG00000036452
AA Change: V167A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:BAR_3
|
6 |
249 |
1.8e-90 |
PFAM |
|
Pfam:IMD
|
26 |
231 |
2.8e-9 |
PFAM |
|
PH
|
266 |
371 |
3.23e-8 |
SMART |
|
RhoGAP
|
387 |
565 |
4.51e-65 |
SMART |
|
low complexity region
|
584 |
600 |
N/A |
INTRINSIC |
|
low complexity region
|
617 |
652 |
N/A |
INTRINSIC |
|
low complexity region
|
657 |
701 |
N/A |
INTRINSIC |
|
SH3
|
759 |
814 |
5.11e-14 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000123820
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000148850
|
| SMART Domains |
Protein: ENSMUSP00000121894
Gene: ENSMUSG00000036452
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
99 |
128 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000155576
AA Change: V167A
PolyPhen 2
Score 0.779 (Sensitivity: 0.85; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000122371
Gene: ENSMUSG00000036452
AA Change: V167A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:IMD
|
27 |
232 |
1.2e-8 |
PFAM |
|
PH
|
266 |
371 |
3.23e-8 |
SMART |
|
RhoGAP
|
387 |
565 |
4.51e-65 |
SMART |
|
low complexity region
|
584 |
600 |
N/A |
INTRINSIC |
|
low complexity region
|
617 |
652 |
N/A |
INTRINSIC |
|
low complexity region
|
657 |
702 |
N/A |
INTRINSIC |
|
SH3
|
704 |
759 |
5.11e-14 |
SMART |
|
| 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: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb5 |
T |
A |
12: 118,849,911 (GRCm39) |
M951L |
probably benign |
Het |
| Als2 |
T |
C |
1: 59,225,163 (GRCm39) |
|
probably benign |
Het |
| Bbs1 |
A |
G |
19: 4,952,867 (GRCm39) |
|
probably benign |
Het |
| Capn11 |
A |
T |
17: 45,949,806 (GRCm39) |
|
probably benign |
Het |
| Cenpl |
G |
T |
1: 160,910,857 (GRCm39) |
S268I |
possibly damaging |
Het |
| Coq8b |
T |
C |
7: 26,939,282 (GRCm39) |
V144A |
possibly damaging |
Het |
| Exo1 |
T |
A |
1: 175,728,963 (GRCm39) |
C10S |
possibly damaging |
Het |
| Fam193b |
A |
T |
13: 55,691,266 (GRCm39) |
S203T |
probably damaging |
Het |
| Ggact |
T |
C |
14: 123,129,167 (GRCm39) |
N16S |
probably damaging |
Het |
| Gm3940 |
A |
T |
1: 52,129,882 (GRCm39) |
|
probably benign |
Het |
| Gm5458 |
G |
T |
14: 19,649,760 (GRCm39) |
L155I |
probably damaging |
Het |
| Golm1 |
T |
C |
13: 59,797,470 (GRCm39) |
K125R |
probably damaging |
Het |
| Gpatch4 |
A |
G |
3: 87,962,312 (GRCm39) |
E175G |
probably damaging |
Het |
| Gria1 |
A |
G |
11: 57,127,801 (GRCm39) |
N337D |
probably damaging |
Het |
| Gripap1 |
G |
A |
X: 7,678,705 (GRCm39) |
G464D |
probably benign |
Het |
| Grk1 |
A |
G |
8: 13,455,404 (GRCm39) |
D96G |
possibly damaging |
Het |
| Hsf1 |
T |
C |
15: 76,382,403 (GRCm39) |
V258A |
probably benign |
Het |
| Ighv7-4 |
A |
G |
12: 114,186,653 (GRCm39) |
S40P |
probably damaging |
Het |
| Igkv4-50 |
G |
A |
6: 69,677,921 (GRCm39) |
S61L |
probably benign |
Het |
| Igkv4-62 |
C |
T |
6: 69,377,035 (GRCm39) |
G38E |
probably damaging |
Het |
| Ints1 |
T |
C |
5: 139,757,437 (GRCm39) |
D358G |
probably damaging |
Het |
| Madd |
A |
G |
2: 90,984,888 (GRCm39) |
|
probably benign |
Het |
| Map3k6 |
A |
G |
4: 132,974,439 (GRCm39) |
S580G |
probably damaging |
Het |
| Myef2 |
A |
G |
2: 124,940,402 (GRCm39) |
M383T |
probably damaging |
Het |
| Myo3b |
T |
C |
2: 70,119,730 (GRCm39) |
L930P |
probably damaging |
Het |
| Ndufaf3 |
C |
T |
9: 108,444,068 (GRCm39) |
R20Q |
probably benign |
Het |
| Npr2 |
T |
C |
4: 43,640,248 (GRCm39) |
S328P |
probably damaging |
Het |
| Or1r1 |
A |
T |
11: 73,875,144 (GRCm39) |
C97S |
probably damaging |
Het |
| Or4k15b |
T |
A |
14: 50,272,507 (GRCm39) |
M118L |
probably benign |
Het |
| Pdpr |
T |
C |
8: 111,839,342 (GRCm39) |
I155T |
possibly damaging |
Het |
| Phf11b |
A |
T |
14: 59,560,631 (GRCm39) |
I216K |
probably benign |
Het |
| Phkg1 |
T |
C |
5: 129,893,813 (GRCm39) |
|
probably null |
Het |
| Pik3r6 |
A |
G |
11: 68,422,276 (GRCm39) |
Y225C |
probably benign |
Het |
| Plekhh2 |
A |
T |
17: 84,914,356 (GRCm39) |
D1253V |
possibly damaging |
Het |
| Plppr3 |
T |
C |
10: 79,702,757 (GRCm39) |
T155A |
probably damaging |
Het |
| Ppp6r2 |
T |
C |
15: 89,166,192 (GRCm39) |
F732S |
probably damaging |
Het |
| Ryr1 |
A |
G |
7: 28,799,627 (GRCm39) |
|
probably benign |
Het |
| Slc16a8 |
T |
G |
15: 79,135,432 (GRCm39) |
S459R |
probably damaging |
Het |
| Slc25a12 |
A |
T |
2: 71,123,696 (GRCm39) |
|
probably benign |
Het |
| Slc38a2 |
T |
C |
15: 96,591,066 (GRCm39) |
|
probably benign |
Het |
| Slit1 |
C |
A |
19: 41,594,824 (GRCm39) |
W1182L |
possibly damaging |
Het |
| Snx2 |
C |
T |
18: 53,327,495 (GRCm39) |
|
probably benign |
Het |
| Sos1 |
A |
T |
17: 80,752,929 (GRCm39) |
V335D |
probably damaging |
Het |
| St18 |
A |
G |
1: 6,872,856 (GRCm39) |
D197G |
probably damaging |
Het |
| Ston2 |
G |
T |
12: 91,615,522 (GRCm39) |
N295K |
possibly damaging |
Het |
| Stpg3 |
A |
G |
2: 25,103,191 (GRCm39) |
|
probably benign |
Het |
| Tmem63a |
A |
G |
1: 180,799,654 (GRCm39) |
I675V |
probably damaging |
Het |
| Vmn2r16 |
T |
A |
5: 109,488,294 (GRCm39) |
L389Q |
probably damaging |
Het |
| Vps13d |
C |
A |
4: 144,699,320 (GRCm39) |
|
probably benign |
Het |
| Wdfy4 |
A |
T |
14: 32,681,934 (GRCm39) |
D3012E |
probably damaging |
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 |
|
IGL01409:Arhgap26
|
APN |
18 |
39,243,504 (GRCm39) |
splice site |
probably benign |
|
|
IGL02316:Arhgap26
|
APN |
18 |
38,775,599 (GRCm39) |
exon |
noncoding transcript |
|
|
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 |
2013-06-21 |
Incidental Mutation