Incidental Mutation 'R8456:Arhgap26'
| ID |
655046 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Arhgap26
|
| Ensembl Gene |
ENSMUSG00000036452 |
| Gene Name |
Rho GTPase activating protein 26 |
| Synonyms |
4933432P15Rik, 2610010G17Rik, 1810044B20Rik |
| MMRRC Submission |
067833-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8456 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
18 |
| Chromosomal Location |
38734531-39509338 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 39244901 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 182
(V182A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000095200
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000097593]
[ENSMUST00000148850]
[ENSMUST00000155576]
|
| AlphaFold |
Q6ZQ82 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000097593
AA Change: V182A
PolyPhen 2
Score 0.895 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000095200
Gene: ENSMUSG00000036452
AA Change: V182A
| 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 |
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 |
probably damaging
Transcript: ENSMUST00000155576
AA Change: V182A
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000122371
Gene: ENSMUSG00000036452
AA Change: V182A
| 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 |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
| 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: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca7 |
A |
G |
10: 79,842,360 (GRCm39) |
E1098G |
probably benign |
Het |
| Akap1 |
T |
A |
11: 88,725,557 (GRCm39) |
|
probably null |
Het |
| Arhgef19 |
A |
G |
4: 140,977,926 (GRCm39) |
K545R |
probably benign |
Het |
| Asph |
C |
T |
4: 9,537,722 (GRCm39) |
R352Q |
probably benign |
Het |
| B3glct |
T |
A |
5: 149,650,254 (GRCm39) |
I119N |
probably damaging |
Het |
| Bltp3b |
A |
G |
10: 89,647,954 (GRCm39) |
T1339A |
probably benign |
Het |
| Camsap3 |
C |
T |
8: 3,650,679 (GRCm39) |
R236* |
probably null |
Het |
| Ccser2 |
A |
T |
14: 36,612,331 (GRCm39) |
M792K |
probably benign |
Het |
| Ceacam5 |
C |
T |
7: 17,479,624 (GRCm39) |
T247I |
possibly damaging |
Het |
| Dnah9 |
A |
G |
11: 66,047,764 (GRCm39) |
S19P |
probably damaging |
Het |
| Dtwd1 |
A |
G |
2: 126,000,451 (GRCm39) |
E129G |
probably damaging |
Het |
| Ebf3 |
T |
A |
7: 136,800,916 (GRCm39) |
M490L |
probably benign |
Het |
| Elp1 |
ACTTCTTCTTCTTCTTCTTCTTC |
ACTTCTTCTTCTTCTTCTTC |
4: 56,781,176 (GRCm39) |
|
probably benign |
Het |
| Erbb4 |
A |
G |
1: 68,110,789 (GRCm39) |
L1008S |
probably damaging |
Het |
| Ereg |
C |
T |
5: 91,237,993 (GRCm39) |
P160S |
possibly damaging |
Het |
| Exoc6b |
ATTT |
ATTTT |
6: 84,821,077 (GRCm39) |
|
probably null |
Het |
| Fmn1 |
A |
G |
2: 113,195,385 (GRCm39) |
T362A |
unknown |
Het |
| Gm14326 |
A |
T |
2: 177,590,312 (GRCm39) |
D16E |
probably benign |
Het |
| H1f8 |
A |
T |
6: 115,925,745 (GRCm39) |
M181L |
probably benign |
Het |
| H3c1 |
A |
T |
13: 23,946,083 (GRCm39) |
F85Y |
probably damaging |
Het |
| Herc6 |
A |
T |
6: 57,575,548 (GRCm39) |
T190S |
probably benign |
Het |
| Lama1 |
T |
G |
17: 68,044,491 (GRCm39) |
I130S |
|
Het |
| Letm2 |
T |
C |
8: 26,071,729 (GRCm39) |
D391G |
probably damaging |
Het |
| Map3k9 |
T |
C |
12: 81,780,892 (GRCm39) |
I423V |
probably damaging |
Het |
| Melk |
T |
A |
4: 44,312,191 (GRCm39) |
C168S |
possibly damaging |
Het |
| Naa16 |
A |
T |
14: 79,596,915 (GRCm39) |
N356K |
probably benign |
Het |
| Nup214 |
A |
G |
2: 31,929,372 (GRCm39) |
N1873S |
probably benign |
Het |
| Or2y1f |
C |
T |
11: 49,184,385 (GRCm39) |
P79L |
probably damaging |
Het |
| Or8b41 |
T |
A |
9: 38,054,981 (GRCm39) |
C178* |
probably null |
Het |
| Pom121 |
A |
G |
5: 135,410,032 (GRCm39) |
F1042L |
unknown |
Het |
| Pramel51 |
T |
A |
12: 88,143,986 (GRCm39) |
T284S |
probably benign |
Het |
| Pxdn |
T |
C |
12: 30,061,889 (GRCm39) |
S1334P |
probably damaging |
Het |
| Ranbp1 |
C |
T |
16: 18,063,170 (GRCm39) |
E69K |
probably damaging |
Het |
| Rasl11a |
T |
C |
5: 146,782,045 (GRCm39) |
S7P |
probably damaging |
Het |
| Rev1 |
G |
A |
1: 38,098,324 (GRCm39) |
R740* |
probably null |
Het |
| Rnf157 |
C |
T |
11: 116,240,246 (GRCm39) |
V443M |
probably benign |
Het |
| Scn3a |
T |
A |
2: 65,291,017 (GRCm39) |
T1910S |
probably benign |
Het |
| Sh2b1 |
TGGGGACCAGCTCAGCCACGGGGACCAGCTC |
TGGGGACCAGCTCAGCCACGGGGACCAGCTCAGCCACGGGGACCAGCTC |
7: 126,066,742 (GRCm39) |
|
probably benign |
Het |
| Sh2b1 |
C |
CAGCCACGGGGCCTAGCTA |
7: 126,066,772 (GRCm39) |
|
probably null |
Het |
| Siah2 |
T |
C |
3: 58,583,503 (GRCm39) |
N261S |
probably benign |
Het |
| Sumf2 |
T |
G |
5: 129,889,003 (GRCm39) |
W264G |
possibly damaging |
Het |
| Tal1 |
G |
T |
4: 114,920,625 (GRCm39) |
A100S |
probably benign |
Het |
| Tmprss9 |
A |
G |
10: 80,730,251 (GRCm39) |
D717G |
possibly damaging |
Het |
| Tox2 |
G |
T |
2: 163,046,550 (GRCm39) |
R9L |
unknown |
Het |
| Traj46 |
A |
G |
14: 54,409,795 (GRCm39) |
E1G |
|
Het |
| Unc80 |
A |
G |
1: 66,680,788 (GRCm39) |
D2128G |
possibly damaging |
Het |
| Usp21 |
A |
T |
1: 171,112,290 (GRCm39) |
F308I |
probably damaging |
Het |
| Vgf |
A |
T |
5: 137,061,265 (GRCm39) |
I476F |
probably damaging |
Het |
| Vps35 |
G |
A |
8: 85,987,934 (GRCm39) |
T739I |
possibly damaging |
Het |
| Wdr95 |
G |
T |
5: 149,502,572 (GRCm39) |
C279F |
probably damaging |
Het |
| Zbtb32 |
T |
C |
7: 30,289,381 (GRCm39) |
S94G |
unknown |
Het |
| Zdhhc13 |
T |
A |
7: 48,452,747 (GRCm39) |
I153N |
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 |
|
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 |
|
|
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GTTCAGTAGCTTACCATTTGTCTTCAG -3'
(R):5'- ATCACTGAGCTGGGAAGAGTCC -3'
Sequencing Primer
(F):5'- ACCATTTGTCTTCAGTATCATGCTG -3'
(R):5'- AGCCAAAGTGACAGGGCTCTG -3'
|
| Posted On |
2020-10-20 |
Incidental Mutation