Incidental Mutation 'R6878:Arhgap26'
| ID |
536538 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Arhgap26
|
| Ensembl Gene |
ENSMUSG00000036452 |
| Gene Name |
Rho GTPase activating protein 26 |
| Synonyms |
4933432P15Rik, 2610010G17Rik, 1810044B20Rik |
| MMRRC Submission |
044974-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6878 (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 39360465 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 397
(I397F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000122371
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000097593]
[ENSMUST00000155576]
|
| AlphaFold |
Q6ZQ82 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000097593
AA Change: I397F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000095200
Gene: ENSMUSG00000036452
AA Change: I397F
| 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 |
|
| SMART Domains |
Protein: ENSMUSP00000123145
Gene: ENSMUSG00000036452
AA Change: I15F
| 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: I397F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000122371
Gene: ENSMUSG00000036452
AA Change: I397F
| 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 |
|
| Meta Mutation Damage Score |
0.9350 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.3%
- 20x: 97.7%
|
| Validation Efficiency |
98% (44/45) |
| 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: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrv1 |
A |
T |
13: 81,581,613 (GRCm39) |
N4810K |
probably benign |
Het |
| Arhgap35 |
A |
G |
7: 16,299,038 (GRCm39) |
V9A |
probably benign |
Het |
| Asl |
A |
G |
5: 130,053,133 (GRCm39) |
|
probably null |
Het |
| Atg2a |
T |
A |
19: 6,300,208 (GRCm39) |
L672Q |
probably damaging |
Het |
| B4galt1 |
T |
C |
4: 40,809,694 (GRCm39) |
D316G |
probably damaging |
Het |
| Bpifb2 |
A |
G |
2: 153,717,832 (GRCm39) |
|
probably benign |
Het |
| Ccl1 |
T |
C |
11: 82,070,519 (GRCm39) |
I18V |
probably benign |
Het |
| Cd47 |
A |
G |
16: 49,731,232 (GRCm39) |
E278G |
possibly damaging |
Het |
| Cilp |
G |
A |
9: 65,187,129 (GRCm39) |
G1075S |
probably damaging |
Het |
| Eml2 |
T |
C |
7: 18,934,537 (GRCm39) |
V604A |
probably benign |
Het |
| Fancm |
A |
T |
12: 65,163,197 (GRCm39) |
R1454* |
probably null |
Het |
| Gm4302 |
TGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA |
TGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA |
10: 100,177,361 (GRCm39) |
|
probably benign |
Het |
| Gm4302 |
GCA |
GCACCA |
10: 100,177,377 (GRCm39) |
|
probably benign |
Het |
| Gm4302 |
CAG |
CAGAAG |
10: 100,177,369 (GRCm39) |
|
probably benign |
Het |
| Hif1a |
T |
C |
12: 73,975,055 (GRCm39) |
M147T |
possibly damaging |
Het |
| Hps5 |
C |
G |
7: 46,433,058 (GRCm39) |
A221P |
probably damaging |
Het |
| Lrrc49 |
A |
G |
9: 60,587,431 (GRCm39) |
S67P |
probably damaging |
Het |
| Madd |
T |
A |
2: 91,000,202 (GRCm39) |
N568I |
probably damaging |
Het |
| Meikin |
T |
C |
11: 54,302,712 (GRCm39) |
S375P |
possibly damaging |
Het |
| Mfsd6 |
G |
T |
1: 52,747,912 (GRCm39) |
Q318K |
probably damaging |
Het |
| Mis18a |
A |
T |
16: 90,518,644 (GRCm39) |
I106N |
probably damaging |
Het |
| Myl2 |
T |
C |
5: 122,243,140 (GRCm39) |
I148T |
probably benign |
Het |
| Myrf |
T |
C |
19: 10,193,842 (GRCm39) |
Q730R |
possibly damaging |
Het |
| Nf1 |
T |
C |
11: 79,325,708 (GRCm39) |
L560P |
probably damaging |
Het |
| Npat |
A |
G |
9: 53,467,899 (GRCm39) |
T285A |
probably benign |
Het |
| Ntrk3 |
T |
A |
7: 77,954,120 (GRCm39) |
D547V |
probably benign |
Het |
| Obox2 |
G |
T |
7: 15,131,245 (GRCm39) |
S117I |
probably benign |
Het |
| Or8k32 |
A |
G |
2: 86,369,109 (GRCm39) |
L48P |
probably damaging |
Het |
| Parva |
T |
A |
7: 112,175,656 (GRCm39) |
N226K |
possibly damaging |
Het |
| Pcdha3 |
T |
A |
18: 37,080,416 (GRCm39) |
L386* |
probably null |
Het |
| Ppip5k1 |
A |
G |
2: 121,142,417 (GRCm39) |
F1323S |
probably benign |
Het |
| Prkdc |
T |
C |
16: 15,594,936 (GRCm39) |
V2771A |
probably benign |
Het |
| Prl7c1 |
T |
C |
13: 27,962,827 (GRCm39) |
T59A |
possibly damaging |
Het |
| Rab15 |
T |
C |
12: 76,851,257 (GRCm39) |
T20A |
probably benign |
Het |
| Rp1l1 |
A |
G |
14: 64,269,301 (GRCm39) |
E1629G |
probably benign |
Het |
| Rpap1 |
A |
T |
2: 119,608,657 (GRCm39) |
L235Q |
probably damaging |
Het |
| Sema3a |
A |
T |
5: 13,505,511 (GRCm39) |
I91F |
possibly damaging |
Het |
| Snx6 |
T |
C |
12: 54,810,386 (GRCm39) |
|
probably null |
Het |
| Sorbs1 |
G |
C |
19: 40,365,244 (GRCm39) |
R180G |
probably benign |
Het |
| Speer4f2 |
T |
G |
5: 17,580,765 (GRCm39) |
M114R |
probably damaging |
Het |
| Syne1 |
T |
C |
10: 5,370,388 (GRCm39) |
D264G |
possibly damaging |
Het |
| Tbl1xr1 |
T |
G |
3: 22,257,368 (GRCm39) |
N410K |
possibly damaging |
Het |
| Tmed7 |
A |
T |
18: 46,726,532 (GRCm39) |
D74E |
probably damaging |
Het |
| Upk3b |
T |
C |
5: 136,068,001 (GRCm39) |
V64A |
probably benign |
Het |
| Vmn2r29 |
A |
G |
7: 7,244,863 (GRCm39) |
V337A |
probably benign |
Het |
| Yy1 |
C |
G |
12: 108,780,682 (GRCm39) |
P352A |
probably damaging |
Het |
| Zfp1005 |
C |
T |
2: 150,108,406 (GRCm39) |
L56F |
possibly damaging |
Het |
| Zfp873 |
T |
C |
10: 81,896,529 (GRCm39) |
I457T |
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 |
|
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'- ACTCTGTACTGCCAATTCTTGTTAG -3'
(R):5'- GCTTCAGACCAACATGACCTG -3'
Sequencing Primer
(F):5'- AGCATGTATCTGTCCTACAGTAGGC -3'
(R):5'- CCTGTAGAAACATGGACAGTGGC -3'
|
| Posted On |
2018-10-18 |
Incidental Mutation