Incidental Mutation 'R7248:Arhgap26'
ID |
563719 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Arhgap26
|
Ensembl Gene |
ENSMUSG00000036452 |
Gene Name |
Rho GTPase activating protein 26 |
Synonyms |
4933432P15Rik, 2610010G17Rik, 1810044B20Rik |
MMRRC Submission |
045311-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R7248 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
18 |
Chromosomal Location |
38734531-39509338 bp(+) (GRCm39) |
Type of Mutation |
critical splice donor site (2 bp from exon) |
DNA Base Change (assembly) |
T to C
at 39439907 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000097593]
[ENSMUST00000137497]
[ENSMUST00000141058]
[ENSMUST00000151757]
[ENSMUST00000155576]
|
AlphaFold |
Q6ZQ82 |
Predicted Effect |
probably null
Transcript: ENSMUST00000097593
|
SMART Domains |
Protein: ENSMUSP00000095200 Gene: ENSMUSG00000036452
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 null
Transcript: ENSMUST00000137497
|
SMART Domains |
Protein: ENSMUSP00000121197 Gene: ENSMUSG00000036452
Domain | Start | End | E-Value | Type |
PDB:1F7C|A
|
1 |
32 |
7e-9 |
PDB |
Blast:RhoGAP
|
16 |
65 |
2e-9 |
BLAST |
low complexity region
|
66 |
101 |
N/A |
INTRINSIC |
SH3
|
116 |
171 |
5.11e-14 |
SMART |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000141058
|
SMART Domains |
Protein: ENSMUSP00000119865 Gene: ENSMUSG00000036452
Domain | Start | End | E-Value | Type |
Blast:RhoGAP
|
1 |
50 |
9e-10 |
BLAST |
low complexity region
|
51 |
86 |
N/A |
INTRINSIC |
low complexity region
|
91 |
132 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000151757
|
SMART Domains |
Protein: ENSMUSP00000122448 Gene: ENSMUSG00000036452
Domain | Start | End | E-Value | Type |
Blast:RhoGAP
|
1 |
50 |
1e-9 |
BLAST |
low complexity region
|
51 |
86 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000154551
|
SMART Domains |
Protein: ENSMUSP00000123145 Gene: ENSMUSG00000036452
Domain | Start | End | E-Value | Type |
RhoGAP
|
6 |
184 |
4.51e-65 |
SMART |
low complexity region
|
203 |
219 |
N/A |
INTRINSIC |
low complexity region
|
236 |
271 |
N/A |
INTRINSIC |
low complexity region
|
276 |
317 |
N/A |
INTRINSIC |
SH3
|
333 |
388 |
5.11e-14 |
SMART |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000155576
|
SMART Domains |
Protein: ENSMUSP00000122371 Gene: ENSMUSG00000036452
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: 99.5%
- 20x: 98.4%
|
Validation Efficiency |
97% (75/77) |
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: 76 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700006A11Rik |
A |
G |
3: 124,207,959 (GRCm39) |
|
probably null |
Het |
Aldh16a1 |
A |
G |
7: 44,795,018 (GRCm39) |
Y484H |
probably damaging |
Het |
Atxn7l1 |
A |
G |
12: 33,417,194 (GRCm39) |
T452A |
probably benign |
Het |
Baz1a |
C |
T |
12: 54,947,293 (GRCm39) |
E1119K |
probably damaging |
Het |
Btaf1 |
A |
T |
19: 36,922,714 (GRCm39) |
E39D |
possibly damaging |
Het |
Bud13 |
G |
T |
9: 46,194,413 (GRCm39) |
E29* |
probably null |
Het |
Ccdc150 |
C |
T |
1: 54,344,057 (GRCm39) |
T530I |
probably benign |
Het |
Chd6 |
G |
A |
2: 160,803,199 (GRCm39) |
Q2160* |
probably null |
Het |
Cluap1 |
T |
A |
16: 3,737,364 (GRCm39) |
I172N |
possibly damaging |
Het |
Cnot2 |
T |
C |
10: 116,334,278 (GRCm39) |
N329S |
probably benign |
Het |
Cog4 |
A |
T |
8: 111,608,834 (GRCm39) |
T175S |
unknown |
Het |
Coq7 |
C |
A |
7: 118,128,897 (GRCm39) |
R46L |
probably benign |
Het |
D630045J12Rik |
A |
T |
6: 38,145,198 (GRCm39) |
V1276E |
probably damaging |
Het |
Dcaf15 |
A |
G |
8: 84,829,394 (GRCm39) |
V116A |
possibly damaging |
Het |
Ddr2 |
C |
T |
1: 169,822,198 (GRCm39) |
V417I |
probably benign |
Het |
Defa25 |
G |
A |
8: 21,575,216 (GRCm39) |
C65Y |
probably damaging |
Het |
Dhx38 |
T |
C |
8: 110,285,559 (GRCm39) |
T425A |
probably benign |
Het |
Diaph1 |
T |
C |
18: 38,022,829 (GRCm39) |
T782A |
probably benign |
Het |
Dnah7b |
T |
A |
1: 46,181,245 (GRCm39) |
M1044K |
possibly damaging |
Het |
Dusp16 |
G |
A |
6: 134,695,940 (GRCm39) |
T297M |
probably benign |
Het |
Esyt2 |
A |
G |
12: 116,305,858 (GRCm39) |
N363D |
probably damaging |
Het |
Fasl |
C |
T |
1: 161,615,760 (GRCm39) |
C32Y |
possibly damaging |
Het |
Flg |
T |
C |
3: 93,189,041 (GRCm39) |
V137A |
probably benign |
Het |
Gm57858 |
T |
A |
3: 36,080,086 (GRCm39) |
T224S |
probably benign |
Het |
Gpr150 |
G |
A |
13: 76,204,126 (GRCm39) |
A273V |
probably benign |
Het |
Grk5 |
A |
G |
19: 60,879,045 (GRCm39) |
T10A |
probably benign |
Het |
Hivep2 |
A |
G |
10: 14,006,909 (GRCm39) |
K1169R |
possibly damaging |
Het |
Ido2 |
A |
C |
8: 25,030,657 (GRCm39) |
Y224* |
probably null |
Het |
Ido2 |
A |
G |
8: 25,038,839 (GRCm39) |
I149T |
probably damaging |
Het |
Iqca1l |
C |
T |
5: 24,749,269 (GRCm39) |
S743N |
probably benign |
Het |
Kctd2 |
A |
G |
11: 115,312,845 (GRCm39) |
T126A |
possibly damaging |
Het |
Khdc4 |
T |
C |
3: 88,600,886 (GRCm39) |
S228P |
probably damaging |
Het |
Kif1a |
T |
C |
1: 92,969,305 (GRCm39) |
D1090G |
probably benign |
Het |
Klrb1a |
A |
T |
6: 128,586,697 (GRCm39) |
H222Q |
possibly damaging |
Het |
Kndc1 |
A |
C |
7: 139,500,699 (GRCm39) |
H688P |
probably damaging |
Het |
Lrriq1 |
C |
A |
10: 103,059,611 (GRCm39) |
V141F |
possibly damaging |
Het |
Malrd1 |
A |
G |
2: 16,106,722 (GRCm39) |
I1845V |
unknown |
Het |
Mob3c |
G |
A |
4: 115,688,881 (GRCm39) |
R138H |
probably benign |
Het |
Mre11a |
T |
A |
9: 14,723,209 (GRCm39) |
D394E |
possibly damaging |
Het |
Myh7b |
A |
T |
2: 155,464,106 (GRCm39) |
I536F |
probably damaging |
Het |
Nacad |
T |
A |
11: 6,548,589 (GRCm39) |
K1382* |
probably null |
Het |
Ncor1 |
T |
C |
11: 62,275,598 (GRCm39) |
K128R |
possibly damaging |
Het |
Or10am5 |
T |
C |
7: 6,517,520 (GRCm39) |
N303D |
probably damaging |
Het |
Ostn |
T |
A |
16: 27,165,719 (GRCm39) |
|
probably null |
Het |
Pacs1 |
G |
A |
19: 5,189,003 (GRCm39) |
T793I |
probably damaging |
Het |
Pcdhb2 |
T |
C |
18: 37,429,547 (GRCm39) |
S507P |
probably damaging |
Het |
Pde2a |
A |
G |
7: 101,152,597 (GRCm39) |
K393E |
possibly damaging |
Het |
Pfkl |
T |
A |
10: 77,825,423 (GRCm39) |
N656Y |
probably damaging |
Het |
Phf20 |
T |
A |
2: 156,135,331 (GRCm39) |
|
probably null |
Het |
Plekha6 |
G |
T |
1: 133,203,586 (GRCm39) |
E550* |
probably null |
Het |
Plxna4 |
A |
T |
6: 32,139,095 (GRCm39) |
V1691E |
probably damaging |
Het |
Rag1 |
A |
T |
2: 101,472,123 (GRCm39) |
H1006Q |
probably damaging |
Het |
Rfx4 |
C |
T |
10: 84,740,919 (GRCm39) |
P679L |
probably benign |
Het |
Ripor2 |
A |
G |
13: 24,878,128 (GRCm39) |
H301R |
probably damaging |
Het |
Rrp12 |
A |
T |
19: 41,871,877 (GRCm39) |
I469N |
possibly damaging |
Het |
Serpinb6b |
A |
G |
13: 33,161,559 (GRCm39) |
T211A |
probably benign |
Het |
Sf1 |
A |
T |
19: 6,426,383 (GRCm39) |
H547L |
unknown |
Het |
Slc29a1 |
T |
C |
17: 45,903,108 (GRCm39) |
D9G |
probably damaging |
Het |
Sptan1 |
T |
A |
2: 29,892,311 (GRCm39) |
M1075K |
probably benign |
Het |
Syngap1 |
A |
G |
17: 27,176,741 (GRCm39) |
D474G |
probably damaging |
Het |
Syt16 |
C |
T |
12: 74,313,483 (GRCm39) |
R470C |
probably damaging |
Het |
Timeless |
A |
G |
10: 128,087,870 (GRCm39) |
T1148A |
probably benign |
Het |
Tmem116 |
A |
T |
5: 121,601,899 (GRCm39) |
|
probably null |
Het |
Tmem158 |
A |
T |
9: 123,089,390 (GRCm39) |
I74N |
probably damaging |
Het |
Traf5 |
T |
A |
1: 191,743,432 (GRCm39) |
D174V |
probably benign |
Het |
Trim65 |
A |
T |
11: 116,018,534 (GRCm39) |
I247N |
probably benign |
Het |
Tsfm |
A |
T |
10: 126,847,500 (GRCm39) |
V197E |
probably benign |
Het |
Utrn |
A |
G |
10: 12,604,562 (GRCm39) |
C539R |
possibly damaging |
Het |
Vps13a |
A |
T |
19: 16,655,406 (GRCm39) |
F1874Y |
probably benign |
Het |
Wdr6 |
A |
G |
9: 108,453,238 (GRCm39) |
M215T |
possibly damaging |
Het |
Wdr75 |
T |
A |
1: 45,856,560 (GRCm39) |
W528R |
probably damaging |
Het |
Zc3h7b |
A |
G |
15: 81,655,988 (GRCm39) |
D112G |
possibly damaging |
Het |
Zc3hav1 |
C |
T |
6: 38,330,911 (GRCm39) |
D83N |
probably benign |
Het |
Zfp369 |
T |
A |
13: 65,443,931 (GRCm39) |
V358E |
probably damaging |
Het |
Zfp946 |
T |
A |
17: 22,672,489 (GRCm39) |
C29* |
probably null |
Het |
Zng1 |
A |
G |
19: 24,898,505 (GRCm39) |
S318P |
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 |
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 |
|
|
Predicted Primers |
PCR Primer
(F):5'- GTATGTGTGGGAGCAACCTC -3'
(R):5'- ACGCTCCTTTGTGCTGATG -3'
Sequencing Primer
(F):5'- ATCCTATCAGCATCCATATGGGC -3'
(R):5'- CTCCTTTGTGCTGATGATGCTTAAG -3'
|
Posted On |
2019-06-26 |