Incidental Mutation 'R2182:Arhgap26'
| ID |
237265 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Arhgap26
|
| Ensembl Gene |
ENSMUSG00000036452 |
| Gene Name |
Rho GTPase activating protein 26 |
| Synonyms |
4933432P15Rik, 2610010G17Rik, 1810044B20Rik |
| MMRRC Submission |
040184-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R2182 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
18 |
| Chromosomal Location |
38734531-39509338 bp(+) (GRCm39) |
| Type of Mutation |
intron |
| DNA Base Change (assembly) |
G to T
at 39490862 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000122371
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000097593]
[ENSMUST00000137497]
[ENSMUST00000141058]
[ENSMUST00000151757]
[ENSMUST00000155576]
|
| AlphaFold |
Q6ZQ82 |
| Predicted Effect |
unknown
Transcript: ENSMUST00000097593
AA Change: A749S
|
| SMART Domains |
Protein: ENSMUSP00000095200
Gene: ENSMUSG00000036452
AA Change: A749S
| 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: ENSMUST00000133247
|
| Predicted Effect |
probably benign
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 |
unknown
Transcript: ENSMUST00000141058
AA Change: A138S
|
| SMART Domains |
Protein: ENSMUSP00000119865
Gene: ENSMUSG00000036452
AA Change: A138S
| 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 |
unknown
Transcript: ENSMUST00000154551
AA Change: A322S
|
| SMART Domains |
Protein: ENSMUSP00000123145
Gene: ENSMUSG00000036452
AA Change: A322S
| 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 benign
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: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.6%
|
| 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: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930550C14Rik |
A |
G |
9: 53,334,243 (GRCm39) |
H17R |
probably damaging |
Het |
| Abca15 |
G |
A |
7: 119,939,450 (GRCm39) |
W281* |
probably null |
Het |
| Aloxe3 |
G |
A |
11: 69,020,426 (GRCm39) |
V157M |
possibly damaging |
Het |
| Atp7b |
T |
C |
8: 22,504,563 (GRCm39) |
N698S |
probably damaging |
Het |
| Clec4a4 |
A |
G |
6: 122,990,716 (GRCm39) |
|
probably null |
Het |
| Clgn |
C |
T |
8: 84,137,039 (GRCm39) |
T252I |
possibly damaging |
Het |
| Cyp2a12 |
A |
T |
7: 26,730,571 (GRCm39) |
N179Y |
probably damaging |
Het |
| D630045J12Rik |
C |
T |
6: 38,151,082 (GRCm39) |
|
probably null |
Het |
| Dennd5a |
G |
T |
7: 109,533,201 (GRCm39) |
R190S |
probably benign |
Het |
| Dtx4 |
C |
A |
19: 12,460,471 (GRCm39) |
G384V |
probably null |
Het |
| Dxo |
T |
C |
17: 35,057,868 (GRCm39) |
V191A |
probably benign |
Het |
| Eprs1 |
G |
A |
1: 185,111,939 (GRCm39) |
|
probably null |
Het |
| Fntb |
A |
G |
12: 76,909,309 (GRCm39) |
N99S |
probably benign |
Het |
| Gm5773 |
T |
A |
3: 93,680,820 (GRCm39) |
I164K |
probably benign |
Het |
| Golm2 |
A |
G |
2: 121,697,909 (GRCm39) |
D75G |
probably damaging |
Het |
| Hyal5 |
T |
C |
6: 24,877,879 (GRCm39) |
I325T |
probably damaging |
Het |
| Igsf8 |
G |
A |
1: 172,118,295 (GRCm39) |
|
probably null |
Het |
| Lamc2 |
A |
G |
1: 153,002,612 (GRCm39) |
V17A |
possibly damaging |
Het |
| Lpxn |
T |
C |
19: 12,810,122 (GRCm39) |
|
probably null |
Het |
| Macf1 |
A |
G |
4: 123,386,464 (GRCm39) |
V1296A |
probably damaging |
Het |
| Mpdz |
A |
T |
4: 81,266,959 (GRCm39) |
L318Q |
probably damaging |
Het |
| Mpl |
T |
A |
4: 118,314,610 (GRCm39) |
Q13L |
probably benign |
Het |
| Mpnd |
A |
G |
17: 56,322,964 (GRCm39) |
S399G |
probably benign |
Het |
| Mrps5 |
T |
C |
2: 127,444,407 (GRCm39) |
L347P |
probably damaging |
Het |
| Naip1 |
T |
A |
13: 100,550,188 (GRCm39) |
Q1217H |
probably benign |
Het |
| Nav2 |
G |
A |
7: 49,247,002 (GRCm39) |
V2176I |
probably benign |
Het |
| Obi1 |
A |
G |
14: 104,743,612 (GRCm39) |
S156P |
possibly damaging |
Het |
| Or13p3 |
T |
C |
4: 118,567,542 (GRCm39) |
*313R |
probably null |
Het |
| Or7g33 |
T |
C |
9: 19,448,638 (GRCm39) |
N196S |
probably benign |
Het |
| Or8b43 |
A |
G |
9: 38,360,420 (GRCm39) |
N84S |
probably benign |
Het |
| Or8g36 |
A |
T |
9: 39,422,722 (GRCm39) |
M98K |
probably damaging |
Het |
| Pbx2 |
C |
A |
17: 34,814,640 (GRCm39) |
Y324* |
probably null |
Het |
| Pcsk7 |
T |
A |
9: 45,839,917 (GRCm39) |
C702S |
probably benign |
Het |
| Pramel11 |
T |
A |
4: 143,623,760 (GRCm39) |
H138L |
possibly damaging |
Het |
| Rictor |
T |
C |
15: 6,801,685 (GRCm39) |
S458P |
probably damaging |
Het |
| Scaf4 |
T |
C |
16: 90,027,028 (GRCm39) |
M905V |
probably benign |
Het |
| Scarf2 |
T |
C |
16: 17,620,886 (GRCm39) |
C185R |
probably damaging |
Het |
| Scd1 |
T |
G |
19: 44,391,732 (GRCm39) |
I101L |
probably benign |
Het |
| Slc6a2 |
A |
G |
8: 93,687,876 (GRCm39) |
M1V |
probably null |
Het |
| Sost |
T |
C |
11: 101,854,676 (GRCm39) |
Y211C |
probably damaging |
Het |
| Sphkap |
A |
G |
1: 83,254,405 (GRCm39) |
S828P |
probably damaging |
Het |
| Tnn |
T |
C |
1: 159,968,170 (GRCm39) |
|
probably null |
Het |
| Tnrc18 |
T |
C |
5: 142,745,816 (GRCm39) |
K1319R |
unknown |
Het |
| Vmn2r60 |
A |
G |
7: 41,844,931 (GRCm39) |
T765A |
probably benign |
Het |
| Vmn2r91 |
C |
A |
17: 18,325,691 (GRCm39) |
T103K |
possibly damaging |
Het |
| Zbtb44 |
T |
C |
9: 30,977,972 (GRCm39) |
C429R |
possibly damaging |
Het |
| Zc3h4 |
G |
A |
7: 16,156,441 (GRCm39) |
G327D |
unknown |
Het |
| Zfp292 |
A |
G |
4: 34,807,417 (GRCm39) |
C1876R |
probably damaging |
Het |
| Zfp839 |
C |
T |
12: 110,834,772 (GRCm39) |
L676F |
probably damaging |
Het |
| Zg16 |
A |
G |
7: 126,649,544 (GRCm39) |
L139P |
probably damaging |
Het |
| Zscan12 |
A |
G |
13: 21,552,961 (GRCm39) |
I262V |
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 |
|
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 |
|
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'- ATCATGGCCCATGTTCTCGG -3'
(R):5'- CAGCAGAGGTTAATTCAGAAATGTG -3'
Sequencing Primer
(F):5'- ATGTTCTCGGCACCATCCAG -3'
(R):5'- TTCAGAAATGTGGGTAAAGGTTG -3'
|
| Posted On |
2014-10-02 |
Incidental Mutation