Incidental Mutation 'R9191:Arhgap26'
| ID |
705623 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Arhgap26
|
| Ensembl Gene |
ENSMUSG00000036452 |
| Gene Name |
Rho GTPase activating protein 26 |
| Synonyms |
4933432P15Rik, 2610010G17Rik, 1810044B20Rik |
| MMRRC Submission |
068952-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R9191 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
18 |
| Chromosomal Location |
38734531-39509338 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 39439893 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Glutamine
at position 277
(R277Q)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000097593]
[ENSMUST00000137497]
[ENSMUST00000141058]
[ENSMUST00000151757]
[ENSMUST00000155576]
|
| AlphaFold |
Q6ZQ82 |
| Predicted Effect |
unknown
Transcript: ENSMUST00000097593
AA Change: R659Q
|
| SMART Domains |
Protein: ENSMUSP00000095200
Gene: ENSMUSG00000036452
AA Change: R659Q
| 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: ENSMUST00000137497
AA Change: R108Q
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000121197
Gene: ENSMUSG00000036452
AA Change: R108Q
| 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 |
unknown
Transcript: ENSMUST00000141058
AA Change: R93Q
|
| SMART Domains |
Protein: ENSMUSP00000119865
Gene: ENSMUSG00000036452
AA Change: R93Q
| 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 |
possibly damaging
Transcript: ENSMUST00000151757
AA Change: R93Q
PolyPhen 2
Score 0.663 (Sensitivity: 0.86; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000122448
Gene: ENSMUSG00000036452
AA Change: R93Q
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:RhoGAP
|
1 |
50 |
1e-9 |
BLAST |
|
low complexity region
|
51 |
86 |
N/A |
INTRINSIC |
|
| Predicted Effect |
|
| SMART Domains |
Protein: ENSMUSP00000123145
Gene: ENSMUSG00000036452
AA Change: R277Q
| 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 |
unknown
Transcript: ENSMUST00000155576
AA Change: R659Q
|
| SMART Domains |
Protein: ENSMUSP00000122371
Gene: ENSMUSG00000036452
AA Change: R659Q
| 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: 99.2%
|
| Validation Efficiency |
100% (36/36) |
| 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: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2900026A02Rik |
G |
A |
5: 113,330,564 (GRCm39) |
R1217W |
probably benign |
Het |
| Acta2 |
T |
A |
19: 34,222,480 (GRCm39) |
I214F |
possibly damaging |
Het |
| Adgra3 |
A |
C |
5: 50,145,006 (GRCm39) |
I529S |
possibly damaging |
Het |
| Aknad1 |
C |
T |
3: 108,664,093 (GRCm39) |
P352L |
probably damaging |
Het |
| Atm |
T |
C |
9: 53,438,590 (GRCm39) |
T127A |
probably benign |
Het |
| Bmp3 |
A |
T |
5: 99,019,946 (GRCm39) |
E123V |
probably damaging |
Het |
| Brap |
A |
G |
5: 121,823,350 (GRCm39) |
Q524R |
probably benign |
Het |
| Ccdc34 |
T |
A |
2: 109,852,301 (GRCm39) |
M141K |
possibly damaging |
Het |
| Crybb1 |
T |
A |
5: 112,417,199 (GRCm39) |
Y196N |
probably damaging |
Het |
| Dysf |
G |
A |
6: 84,045,048 (GRCm39) |
R293H |
probably benign |
Het |
| Ercc8 |
T |
A |
13: 108,305,914 (GRCm39) |
D96E |
probably benign |
Het |
| Intu |
T |
A |
3: 40,646,941 (GRCm39) |
L605M |
probably damaging |
Het |
| Kif21b |
A |
T |
1: 136,100,559 (GRCm39) |
K1547* |
probably null |
Het |
| Larp4b |
T |
A |
13: 9,220,830 (GRCm39) |
V693D |
probably benign |
Het |
| Msantd5f6 |
A |
T |
4: 73,319,670 (GRCm39) |
S269T |
probably damaging |
Het |
| Muc16 |
T |
C |
9: 18,556,106 (GRCm39) |
K3396E |
unknown |
Het |
| Myo3a |
A |
T |
2: 22,469,841 (GRCm39) |
R1475S |
probably benign |
Het |
| Neto1 |
A |
G |
18: 86,516,781 (GRCm39) |
K366R |
probably damaging |
Het |
| Nphp4 |
A |
T |
4: 152,640,687 (GRCm39) |
D1018V |
probably damaging |
Het |
| Nt5e |
T |
C |
9: 88,246,874 (GRCm39) |
M370T |
possibly damaging |
Het |
| Pappa2 |
A |
G |
1: 158,684,988 (GRCm39) |
V717A |
probably damaging |
Het |
| Pcdh15 |
T |
C |
10: 74,161,981 (GRCm39) |
I512T |
probably benign |
Het |
| Pcdhga7 |
A |
G |
18: 37,848,932 (GRCm39) |
Q313R |
probably benign |
Het |
| Prpf40b |
A |
T |
15: 99,202,064 (GRCm39) |
Q54L |
probably null |
Het |
| Rasgrf1 |
G |
A |
9: 89,883,923 (GRCm39) |
V943M |
probably damaging |
Het |
| Serbp1 |
A |
G |
6: 67,249,838 (GRCm39) |
Y244C |
probably benign |
Het |
| Slc23a4 |
A |
G |
6: 34,925,396 (GRCm39) |
S219P |
|
Het |
| Slc27a5 |
T |
G |
7: 12,725,247 (GRCm39) |
H400P |
probably damaging |
Het |
| Slc9c1 |
C |
A |
16: 45,420,144 (GRCm39) |
D1066E |
possibly damaging |
Het |
| Tap1 |
T |
C |
17: 34,413,956 (GRCm39) |
|
probably null |
Het |
| Tmem198 |
G |
A |
1: 75,456,426 (GRCm39) |
A27T |
unknown |
Het |
| Tpx2 |
A |
G |
2: 152,727,124 (GRCm39) |
T464A |
possibly damaging |
Het |
| Trav7-5 |
C |
G |
14: 53,768,615 (GRCm39) |
A61G |
probably benign |
Het |
| Trh |
G |
A |
6: 92,219,602 (GRCm39) |
T238I |
possibly damaging |
Het |
| Zbtb10 |
T |
C |
3: 9,330,295 (GRCm39) |
V551A |
probably damaging |
Het |
| Zfp668 |
T |
C |
7: 127,465,658 (GRCm39) |
T509A |
probably benign |
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 |
|
R9172:Arhgap26
|
UTSW |
18 |
39,378,382 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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'- TTGTATGTGTGGGAGCAACCTC -3'
(R):5'- CTCCTTTGTGCTGATGATGC -3'
Sequencing Primer
(F):5'- ATCCTATCAGCATCCATATGGGC -3'
(R):5'- CTCCTTTGTGCTGATGATGCTTAAG -3'
|
| Posted On |
2022-03-25 |
Incidental Mutation