Incidental Mutation 'R9172:Arhgap26'
| ID |
696507 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Arhgap26
|
| Ensembl Gene |
ENSMUSG00000036452 |
| Gene Name |
Rho GTPase activating protein 26 |
| Synonyms |
4933432P15Rik, 2610010G17Rik, 1810044B20Rik |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R9172 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
18 |
| Chromosomal Location |
38734531-39509338 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 39378382 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 92
(I92F)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000097593]
[ENSMUST00000155576]
|
| AlphaFold |
Q6ZQ82 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000097593
AA Change: I474F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000095200
Gene: ENSMUSG00000036452
AA Change: I474F
| 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: ENSMUST00000154551
AA Change: I92F
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000123145
Gene: ENSMUSG00000036452
AA Change: I92F
| 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 damaging
Transcript: ENSMUST00000155576
AA Change: I474F
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000122371
Gene: ENSMUSG00000036452
AA Change: I474F
| 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: 100.0%
- 10x: 99.8%
- 20x: 99.2%
|
| Validation Efficiency |
100% (63/63) |
| 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: 66 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Accsl |
A |
T |
2: 93,691,833 (GRCm39) |
L332Q |
probably damaging |
Het |
| Adcy1 |
A |
G |
11: 7,110,317 (GRCm39) |
N855D |
probably damaging |
Het |
| Adgrl3 |
T |
A |
5: 81,922,251 (GRCm39) |
C1199S |
probably benign |
Het |
| Alyref |
G |
A |
11: 120,486,842 (GRCm39) |
R140C |
probably benign |
Het |
| Atp9b |
G |
A |
18: 80,960,993 (GRCm39) |
R73* |
probably null |
Het |
| Btaf1 |
G |
A |
19: 36,977,630 (GRCm39) |
A1483T |
probably damaging |
Het |
| Cmtr2 |
T |
C |
8: 110,948,761 (GRCm39) |
L357P |
probably damaging |
Het |
| Commd7 |
A |
T |
2: 153,470,474 (GRCm39) |
L51Q |
possibly damaging |
Het |
| Cpd |
T |
A |
11: 76,675,252 (GRCm39) |
I1290L |
probably benign |
Het |
| Cry2 |
C |
A |
2: 92,243,993 (GRCm39) |
E393D |
probably damaging |
Het |
| Ctsm |
A |
T |
13: 61,685,643 (GRCm39) |
M74K |
|
Het |
| Dnai7 |
A |
G |
6: 145,123,175 (GRCm39) |
F564L |
probably benign |
Het |
| Dync2h1 |
T |
C |
9: 7,031,771 (GRCm39) |
Y3491C |
probably damaging |
Het |
| Erc1 |
A |
C |
6: 119,801,842 (GRCm39) |
N58K |
possibly damaging |
Het |
| Fbxw21 |
T |
C |
9: 108,975,764 (GRCm39) |
T211A |
probably benign |
Het |
| Fcsk |
A |
G |
8: 111,610,557 (GRCm39) |
W949R |
probably damaging |
Het |
| Fry |
T |
C |
5: 150,336,793 (GRCm39) |
V1388A |
probably benign |
Het |
| Gca |
T |
G |
2: 62,520,368 (GRCm39) |
I176S |
probably damaging |
Het |
| Gimap7 |
A |
T |
6: 48,700,761 (GRCm39) |
K116* |
probably null |
Het |
| Gm40460 |
ACAACCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG |
ACAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG |
7: 141,794,447 (GRCm39) |
|
probably benign |
Het |
| Gm9195 |
A |
C |
14: 72,711,154 (GRCm39) |
L428R |
probably damaging |
Het |
| Grin2b |
A |
G |
6: 135,756,255 (GRCm39) |
I490T |
possibly damaging |
Het |
| Kif24 |
T |
C |
4: 41,400,442 (GRCm39) |
T499A |
probably benign |
Het |
| Mbtps1 |
G |
A |
8: 120,260,108 (GRCm39) |
T413I |
probably damaging |
Het |
| Med4 |
A |
T |
14: 73,751,365 (GRCm39) |
S105C |
probably benign |
Het |
| Mgat1 |
G |
A |
11: 49,151,910 (GRCm39) |
R131Q |
probably damaging |
Het |
| Mroh4 |
T |
C |
15: 74,477,961 (GRCm39) |
*984W |
probably null |
Het |
| Mybpc1 |
T |
C |
10: 88,379,615 (GRCm39) |
E628G |
possibly damaging |
Het |
| Myh8 |
C |
T |
11: 67,183,260 (GRCm39) |
P713L |
possibly damaging |
Het |
| Myo7a |
T |
C |
7: 97,732,369 (GRCm39) |
D706G |
probably benign |
Het |
| Nbas |
T |
A |
12: 13,424,751 (GRCm39) |
C997S |
possibly damaging |
Het |
| Nkx2-1 |
C |
A |
12: 56,581,752 (GRCm39) |
G32C |
probably damaging |
Het |
| Npas3 |
A |
G |
12: 54,112,653 (GRCm39) |
T466A |
probably benign |
Het |
| Opa1 |
C |
T |
16: 29,439,232 (GRCm39) |
R683C |
probably benign |
Het |
| Opa3 |
C |
T |
7: 18,989,466 (GRCm39) |
R110C |
probably damaging |
Het |
| Or5p63 |
T |
C |
7: 107,811,169 (GRCm39) |
E189G |
probably benign |
Het |
| Or8k38 |
T |
A |
2: 86,487,879 (GRCm39) |
I308L |
probably benign |
Het |
| Ppfibp2 |
T |
A |
7: 107,337,525 (GRCm39) |
L609* |
probably null |
Het |
| Pygo2 |
T |
A |
3: 89,340,617 (GRCm39) |
D338E |
possibly damaging |
Het |
| Pzp |
A |
T |
6: 128,502,172 (GRCm39) |
M59K |
probably benign |
Het |
| Reln |
A |
G |
5: 22,155,815 (GRCm39) |
|
probably null |
Het |
| Ripor1 |
A |
G |
8: 106,347,833 (GRCm39) |
D1097G |
unknown |
Het |
| Rmdn3 |
T |
C |
2: 118,968,863 (GRCm39) |
K443E |
probably benign |
Het |
| Rnf145 |
A |
G |
11: 44,448,262 (GRCm39) |
D373G |
possibly damaging |
Het |
| Sec23b |
A |
T |
2: 144,401,179 (GRCm39) |
E13D |
probably benign |
Het |
| Semp2l1 |
G |
T |
1: 32,585,165 (GRCm39) |
H248Q |
probably benign |
Het |
| Slc39a6 |
A |
G |
18: 24,715,399 (GRCm39) |
F707S |
probably damaging |
Het |
| Sox11 |
G |
A |
12: 27,391,536 (GRCm39) |
A291V |
possibly damaging |
Het |
| Spart |
T |
A |
3: 55,032,267 (GRCm39) |
V367D |
possibly damaging |
Het |
| Spata31e3 |
A |
G |
13: 50,401,417 (GRCm39) |
F303S |
probably benign |
Het |
| Strap |
A |
T |
6: 137,718,365 (GRCm39) |
K156N |
probably benign |
Het |
| Stxbp5 |
T |
A |
10: 9,645,152 (GRCm39) |
I951F |
possibly damaging |
Het |
| Taar7a |
T |
C |
10: 23,868,677 (GRCm39) |
I235V |
probably benign |
Het |
| Tek |
T |
A |
4: 94,692,583 (GRCm39) |
N230K |
probably benign |
Het |
| Tyw1 |
T |
A |
5: 130,325,520 (GRCm39) |
C469* |
probably null |
Het |
| Vcan |
T |
C |
13: 89,828,050 (GRCm39) |
H3132R |
probably damaging |
Het |
| Vmn2r24 |
A |
G |
6: 123,783,432 (GRCm39) |
D544G |
probably damaging |
Het |
| Vmn2r3 |
A |
T |
3: 64,186,403 (GRCm39) |
M94K |
possibly damaging |
Het |
| Vps33a |
T |
C |
5: 123,674,604 (GRCm39) |
T388A |
probably benign |
Het |
| Vta1 |
A |
G |
10: 14,551,743 (GRCm39) |
I152T |
probably damaging |
Het |
| Vtcn1 |
A |
G |
3: 100,799,865 (GRCm39) |
D242G |
probably benign |
Het |
| Zfp12 |
T |
A |
5: 143,231,220 (GRCm39) |
C548S |
probably damaging |
Het |
| Zfp263 |
A |
G |
16: 3,567,323 (GRCm39) |
D546G |
probably benign |
Het |
| Zfp324 |
T |
A |
7: 12,704,689 (GRCm39) |
C293S |
probably damaging |
Het |
| Zfp747l1 |
T |
C |
7: 126,984,626 (GRCm39) |
K159E |
probably benign |
Het |
| Zscan4c |
A |
T |
7: 10,743,819 (GRCm39) |
I473F |
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 |
|
|
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 |
|
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'- GAATCTCTGAAACTGAGGGTCTC -3'
(R):5'- GGCAGTCTTGAGTCCATTTCATC -3'
Sequencing Primer
(F):5'- ACACCCAGCTGCTGTTGTG -3'
(R):5'- CATTTCATCGTTTAGTCTGTGACAG -3'
|
| Posted On |
2022-02-07 |
Incidental Mutation