Incidental Mutation 'R5232:Arhgap26'
ID |
398657 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Arhgap26
|
Ensembl Gene |
ENSMUSG00000036452 |
Gene Name |
Rho GTPase activating protein 26 |
Synonyms |
4933432P15Rik, 2610010G17Rik, 1810044B20Rik |
MMRRC Submission |
042804-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R5232 (G1)
|
Quality Score |
151 |
Status
|
Not validated
|
Chromosome |
18 |
Chromosomal Location |
38734531-39509338 bp(+) (GRCm39) |
Type of Mutation |
start codon destroyed |
DNA Base Change (assembly) |
A to G
at 39126529 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Valine
at position 1
(M1V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000122371
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000097593]
[ENSMUST00000148850]
[ENSMUST00000155576]
|
AlphaFold |
Q6ZQ82 |
Predicted Effect |
probably null
Transcript: ENSMUST00000097593
AA Change: M1V
PolyPhen 2
Score 0.388 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000095200 Gene: ENSMUSG00000036452 AA Change: M1V
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: ENSMUST00000115574
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000131421
|
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 null
Transcript: ENSMUST00000155576
AA Change: M1V
PolyPhen 2
Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000122371 Gene: ENSMUSG00000036452 AA Change: M1V
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: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.2%
|
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: 41 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcc5 |
T |
C |
16: 20,157,672 (GRCm39) |
E1295G |
probably damaging |
Het |
Adarb2 |
C |
A |
13: 8,763,676 (GRCm39) |
H524Q |
possibly damaging |
Het |
Atp10b |
G |
A |
11: 43,093,006 (GRCm39) |
R447H |
probably damaging |
Het |
B4galnt3 |
T |
A |
6: 120,209,949 (GRCm39) |
Y58F |
probably damaging |
Het |
Cdca7l |
A |
G |
12: 117,833,820 (GRCm39) |
E79G |
probably damaging |
Het |
Chd4 |
C |
G |
6: 125,098,273 (GRCm39) |
P350A |
probably damaging |
Het |
Coq2 |
G |
A |
5: 100,805,698 (GRCm39) |
H313Y |
possibly damaging |
Het |
Cubn |
A |
T |
2: 13,483,013 (GRCm39) |
C244* |
probably null |
Het |
Cyfip2 |
A |
G |
11: 46,133,205 (GRCm39) |
S832P |
probably damaging |
Het |
Dnaaf1 |
A |
C |
8: 120,317,329 (GRCm39) |
E286A |
probably benign |
Het |
Emilin1 |
A |
G |
5: 31,074,323 (GRCm39) |
K188R |
probably benign |
Het |
Fstl5 |
T |
C |
3: 76,052,284 (GRCm39) |
W5R |
possibly damaging |
Het |
Gm5565 |
T |
A |
5: 146,096,947 (GRCm39) |
Y64F |
possibly damaging |
Het |
Golga4 |
G |
A |
9: 118,335,626 (GRCm39) |
|
probably null |
Het |
Hmcn2 |
T |
C |
2: 31,347,760 (GRCm39) |
L4802P |
probably damaging |
Het |
Hnrnpll |
C |
T |
17: 80,346,107 (GRCm39) |
V385I |
probably damaging |
Het |
Kctd9 |
A |
T |
14: 67,962,110 (GRCm39) |
D51V |
probably damaging |
Het |
Lcn9 |
T |
C |
2: 25,714,067 (GRCm39) |
|
probably null |
Het |
Map1a |
C |
A |
2: 121,132,466 (GRCm39) |
P856H |
probably damaging |
Het |
Myo5b |
G |
C |
18: 74,848,003 (GRCm39) |
E1080D |
probably damaging |
Het |
Naglu |
T |
C |
11: 100,960,976 (GRCm39) |
I9T |
probably benign |
Het |
Ndst3 |
A |
T |
3: 123,465,888 (GRCm39) |
I28N |
probably damaging |
Het |
Olfm4 |
A |
G |
14: 80,259,122 (GRCm39) |
N424D |
probably damaging |
Het |
Or11g26 |
T |
A |
14: 50,753,495 (GRCm39) |
V278E |
probably damaging |
Het |
Or4n5 |
A |
G |
14: 50,133,155 (GRCm39) |
Y35H |
probably damaging |
Het |
Phf13 |
T |
C |
4: 152,076,680 (GRCm39) |
T171A |
probably damaging |
Het |
Plk3 |
A |
G |
4: 116,986,317 (GRCm39) |
V605A |
probably benign |
Het |
Polr3a |
A |
T |
14: 24,503,279 (GRCm39) |
M1185K |
probably benign |
Het |
Pramel7 |
A |
T |
2: 87,320,320 (GRCm39) |
H324Q |
probably damaging |
Het |
Prpf4b |
T |
A |
13: 35,067,573 (GRCm39) |
|
probably benign |
Het |
Pxdn |
C |
T |
12: 30,040,987 (GRCm39) |
T421I |
probably benign |
Het |
Sertad2 |
C |
T |
11: 20,598,344 (GRCm39) |
T180I |
possibly damaging |
Het |
Sgo2b |
C |
A |
8: 64,381,636 (GRCm39) |
A399S |
possibly damaging |
Het |
Skint5 |
T |
C |
4: 113,434,841 (GRCm39) |
K1043E |
unknown |
Het |
Slc22a27 |
C |
G |
19: 7,843,303 (GRCm39) |
A359P |
probably damaging |
Het |
Spock3 |
T |
C |
8: 63,798,843 (GRCm39) |
F288S |
probably damaging |
Het |
Srgap1 |
T |
C |
10: 121,676,816 (GRCm39) |
I393V |
probably benign |
Het |
Taf6 |
T |
C |
5: 138,178,214 (GRCm39) |
K429R |
possibly damaging |
Het |
Vav1 |
T |
C |
17: 57,610,846 (GRCm39) |
F447L |
possibly damaging |
Het |
Vmn2r19 |
T |
C |
6: 123,312,916 (GRCm39) |
M662T |
probably benign |
Het |
Zfp541 |
A |
G |
7: 15,829,104 (GRCm39) |
Y1152C |
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 |
|
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 |
|
|
Predicted Primers |
PCR Primer
(F):5'- TAGGTCATCGCTAGCAGGTTC -3'
(R):5'- ATAGACACCGGTCACTCTGC -3'
Sequencing Primer
(F):5'- CTTCTGTGAGAGGGCGCTC -3'
(R):5'- GTCACTCTGCGCCCGAG -3'
|
Posted On |
2016-07-06 |