Incidental Mutation 'R6799:Arhgap26'
| ID |
533239 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Arhgap26
|
| Ensembl Gene |
ENSMUSG00000036452 |
| Gene Name |
Rho GTPase activating protein 26 |
| Synonyms |
4933432P15Rik, 2610010G17Rik, 1810044B20Rik |
| MMRRC Submission |
044912-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6799 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
18 |
| Chromosomal Location |
38734531-39509338 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 39232660 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Aspartic acid
at position 96
(N96D)
|
| 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: N96D
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000095200
Gene: ENSMUSG00000036452
AA Change: N96D
| 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 damaging
Transcript: ENSMUST00000148850
AA Change: N112D
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000121894
Gene: ENSMUSG00000036452
AA Change: N112D
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
99 |
128 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000155576
AA Change: N96D
PolyPhen 2
Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000122371
Gene: ENSMUSG00000036452
AA Change: N96D
| 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: 99.9%
- 3x: 99.7%
- 10x: 98.6%
- 20x: 96.6%
|
| 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: 68 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700018F24Rik |
A |
T |
5: 144,981,624 (GRCm39) |
Y153F |
probably damaging |
Het |
| Abcb1b |
T |
A |
5: 8,862,656 (GRCm39) |
Y113N |
probably damaging |
Het |
| Albfm1 |
A |
G |
5: 90,727,474 (GRCm39) |
H364R |
probably damaging |
Het |
| Anapc1 |
C |
G |
2: 128,501,657 (GRCm39) |
R795T |
probably null |
Het |
| Arhgap18 |
T |
A |
10: 26,725,917 (GRCm39) |
N47K |
possibly damaging |
Het |
| Asxl3 |
G |
T |
18: 22,598,457 (GRCm39) |
E191* |
probably null |
Het |
| Cc2d2b |
A |
G |
19: 40,779,652 (GRCm39) |
E697G |
possibly damaging |
Het |
| Chaf1a |
A |
T |
17: 56,354,059 (GRCm39) |
I110F |
unknown |
Het |
| Clca4b |
A |
T |
3: 144,621,388 (GRCm39) |
|
probably null |
Het |
| Dagla |
C |
A |
19: 10,234,214 (GRCm39) |
V366L |
probably damaging |
Het |
| Dapk1 |
A |
G |
13: 60,900,049 (GRCm39) |
N878S |
probably benign |
Het |
| Dapk3 |
A |
G |
10: 81,026,096 (GRCm39) |
Y129C |
probably damaging |
Het |
| Dhx38 |
A |
G |
8: 110,279,834 (GRCm39) |
L952P |
probably damaging |
Het |
| Drosha |
T |
A |
15: 12,912,623 (GRCm39) |
Y1080* |
probably null |
Het |
| Dscaml1 |
G |
A |
9: 45,361,881 (GRCm39) |
V214I |
probably benign |
Het |
| Dtymk |
A |
G |
1: 93,726,214 (GRCm39) |
L15P |
probably benign |
Het |
| E330034G19Rik |
A |
G |
14: 24,346,178 (GRCm39) |
M30V |
probably benign |
Het |
| Egfr |
G |
A |
11: 16,846,952 (GRCm39) |
C783Y |
probably damaging |
Het |
| Epha8 |
C |
T |
4: 136,672,980 (GRCm39) |
R268Q |
probably benign |
Het |
| Fbxw24 |
T |
A |
9: 109,453,998 (GRCm39) |
R49S |
probably damaging |
Het |
| Fcsk |
T |
C |
8: 111,620,050 (GRCm39) |
M276V |
probably benign |
Het |
| Gm8797 |
A |
T |
3: 5,816,027 (GRCm39) |
T22S |
probably benign |
Het |
| Hao1 |
T |
C |
2: 134,372,685 (GRCm39) |
S108G |
probably damaging |
Het |
| Hdac4 |
C |
A |
1: 91,929,935 (GRCm39) |
A184S |
probably damaging |
Het |
| Hikeshi |
T |
A |
7: 89,579,553 (GRCm39) |
|
probably benign |
Het |
| Hivep2 |
C |
T |
10: 14,004,757 (GRCm39) |
R452C |
probably benign |
Het |
| Hsdl1 |
T |
C |
8: 120,293,169 (GRCm39) |
S68G |
probably benign |
Het |
| Kctd20 |
T |
C |
17: 29,182,351 (GRCm39) |
|
probably null |
Het |
| Klf11 |
T |
C |
12: 24,705,638 (GRCm39) |
V364A |
possibly damaging |
Het |
| Kpna6 |
A |
G |
4: 129,551,247 (GRCm39) |
L86P |
probably damaging |
Het |
| Lama5 |
G |
A |
2: 179,833,455 (GRCm39) |
P1519L |
probably damaging |
Het |
| Lpin1 |
T |
A |
12: 16,611,045 (GRCm39) |
N516Y |
probably damaging |
Het |
| Lrp2 |
T |
C |
2: 69,314,248 (GRCm39) |
Y2161C |
probably damaging |
Het |
| Lrrtm3 |
A |
T |
10: 63,923,630 (GRCm39) |
C512* |
probably null |
Het |
| Mfsd1 |
T |
C |
3: 67,507,314 (GRCm39) |
I405T |
probably damaging |
Het |
| Msc |
T |
G |
1: 14,825,491 (GRCm39) |
D161A |
probably damaging |
Het |
| Mttp |
T |
C |
3: 137,800,841 (GRCm39) |
I755V |
probably benign |
Het |
| Ncam1 |
T |
C |
9: 49,419,911 (GRCm39) |
T803A |
probably damaging |
Het |
| Nlrp14 |
A |
G |
7: 106,795,346 (GRCm39) |
I210V |
probably benign |
Het |
| Npat |
A |
T |
9: 53,462,930 (GRCm39) |
H108L |
probably benign |
Het |
| Nt5dc1 |
A |
G |
10: 34,189,703 (GRCm39) |
I329T |
possibly damaging |
Het |
| Or10v5 |
T |
A |
19: 11,806,178 (GRCm39) |
I71F |
possibly damaging |
Het |
| Or51q1c |
T |
A |
7: 103,648,006 (GRCm39) |
|
probably null |
Het |
| Or8b35 |
T |
C |
9: 37,904,478 (GRCm39) |
L230P |
possibly damaging |
Het |
| Parm1 |
C |
T |
5: 91,742,070 (GRCm39) |
T146I |
possibly damaging |
Het |
| Parp2 |
T |
C |
14: 51,058,553 (GRCm39) |
Y528H |
probably damaging |
Het |
| Pias1 |
G |
T |
9: 62,789,334 (GRCm39) |
S624R |
probably benign |
Het |
| Ppif |
A |
G |
14: 25,696,488 (GRCm39) |
H95R |
probably damaging |
Het |
| Prrc2c |
TTGCTGCTGCTGCTGCTGCTGCTGCTGC |
TTGCTGCTGCTGCTGCTGCTGCTGC |
1: 162,536,630 (GRCm39) |
|
probably benign |
Het |
| Psg20 |
A |
G |
7: 18,418,345 (GRCm39) |
Y141H |
probably benign |
Het |
| Pygm |
A |
T |
19: 6,448,157 (GRCm39) |
Y733F |
probably damaging |
Het |
| Rcc1l |
A |
T |
5: 134,205,552 (GRCm39) |
M1K |
probably null |
Het |
| Rfpl4b |
T |
C |
10: 38,697,341 (GRCm39) |
K87E |
possibly damaging |
Het |
| Rnf113a1 |
A |
C |
X: 36,455,840 (GRCm39) |
T266P |
probably benign |
Het |
| Scn5a |
A |
C |
9: 119,324,688 (GRCm39) |
I1380S |
possibly damaging |
Het |
| Sel1l |
A |
G |
12: 91,781,742 (GRCm39) |
|
probably null |
Het |
| Slc18a1 |
T |
A |
8: 69,493,633 (GRCm39) |
I400L |
probably benign |
Het |
| Slc30a3 |
A |
G |
5: 31,246,958 (GRCm39) |
S73P |
probably damaging |
Het |
| Slc9a5 |
A |
T |
8: 106,090,600 (GRCm39) |
N685I |
possibly damaging |
Het |
| Tnc |
C |
T |
4: 63,883,841 (GRCm39) |
R1868H |
probably benign |
Het |
| Trdmt1 |
A |
G |
2: 13,520,824 (GRCm39) |
|
probably null |
Het |
| Ttyh1 |
G |
T |
7: 4,136,221 (GRCm39) |
|
probably null |
Het |
| Tyms |
A |
T |
5: 30,266,069 (GRCm39) |
D283E |
probably benign |
Het |
| Vmn2r110 |
T |
A |
17: 20,803,798 (GRCm39) |
Y259F |
probably benign |
Het |
| Vmn2r111 |
T |
C |
17: 22,778,032 (GRCm39) |
N549S |
possibly damaging |
Het |
| Vmn2r88 |
C |
A |
14: 51,651,426 (GRCm39) |
Q255K |
probably benign |
Het |
| Vmn2r95 |
C |
T |
17: 18,659,555 (GRCm39) |
P100S |
probably damaging |
Het |
| Zfp128 |
A |
T |
7: 12,624,826 (GRCm39) |
H398L |
possibly 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 |
|
|
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'- TCTTACACACCCATCATGACTG -3'
(R):5'- GTCACAGAGAGCTTCAAATTCTG -3'
Sequencing Primer
(F):5'- GACTGAAATCTGTAAGTTGCTCTTGC -3'
(R):5'- GAGCTTCAAATTCTGCAAAGGCTC -3'
|
| Posted On |
2018-09-12 |
Incidental Mutation