Incidental Mutation 'R8206:Arhgap26'
ID |
635940 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Arhgap26
|
Ensembl Gene |
ENSMUSG00000036452 |
Gene Name |
Rho GTPase activating protein 26 |
Synonyms |
4933432P15Rik, 2610010G17Rik, 1810044B20Rik |
MMRRC Submission |
067629-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R8206 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
18 |
Chromosomal Location |
38734531-39509338 bp(+) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
C to A
at 39439803 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Stop codon
at position 247
(S247*)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000097593]
[ENSMUST00000137497]
[ENSMUST00000141058]
[ENSMUST00000151757]
[ENSMUST00000155576]
|
AlphaFold |
Q6ZQ82 |
Predicted Effect |
probably null
Transcript: ENSMUST00000097593
AA Change: S629*
|
SMART Domains |
Protein: ENSMUSP00000095200 Gene: ENSMUSG00000036452 AA Change: S629*
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 null
Transcript: ENSMUST00000137497
AA Change: S78*
|
SMART Domains |
Protein: ENSMUSP00000121197 Gene: ENSMUSG00000036452 AA Change: S78*
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 |
probably null
Transcript: ENSMUST00000141058
AA Change: S63*
|
SMART Domains |
Protein: ENSMUSP00000119865 Gene: ENSMUSG00000036452 AA Change: S63*
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 null
Transcript: ENSMUST00000151757
AA Change: S63*
|
SMART Domains |
Protein: ENSMUSP00000122448 Gene: ENSMUSG00000036452 AA Change: S63*
Domain | Start | End | E-Value | Type |
Blast:RhoGAP
|
1 |
50 |
1e-9 |
BLAST |
low complexity region
|
51 |
86 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000154551
AA Change: S247*
|
SMART Domains |
Protein: ENSMUSP00000123145 Gene: ENSMUSG00000036452 AA Change: S247*
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 null
Transcript: ENSMUST00000155576
AA Change: S629*
|
SMART Domains |
Protein: ENSMUSP00000122371 Gene: ENSMUSG00000036452 AA Change: S629*
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: 99.0%
|
Validation Efficiency |
100% (50/50) |
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: 49 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ano4 |
A |
G |
10: 88,860,958 (GRCm39) |
Y342H |
probably damaging |
Het |
Aqp4 |
T |
A |
18: 15,526,716 (GRCm39) |
D255V |
possibly damaging |
Het |
Arid4a |
A |
G |
12: 71,133,361 (GRCm39) |
D1154G |
probably damaging |
Het |
Atpaf2 |
A |
G |
11: 60,295,304 (GRCm39) |
I182T |
probably damaging |
Het |
Cacna1i |
C |
A |
15: 80,274,016 (GRCm39) |
|
probably null |
Het |
Ccdc38 |
A |
G |
10: 93,399,146 (GRCm39) |
S205G |
probably damaging |
Het |
Cep63 |
A |
G |
9: 102,498,470 (GRCm39) |
|
probably benign |
Het |
Cripto |
G |
A |
9: 110,773,352 (GRCm39) |
|
probably benign |
Het |
Cyp24a1 |
T |
C |
2: 170,333,589 (GRCm39) |
T255A |
possibly damaging |
Het |
Dlg5 |
A |
G |
14: 24,210,336 (GRCm39) |
S787P |
possibly damaging |
Het |
Dnah6 |
A |
T |
6: 73,014,549 (GRCm39) |
C3679* |
probably null |
Het |
Dpy19l3 |
T |
C |
7: 35,429,155 (GRCm39) |
Y95C |
probably damaging |
Het |
Erc2 |
G |
A |
14: 28,024,972 (GRCm39) |
|
probably null |
Het |
Ezh2 |
A |
T |
6: 47,509,834 (GRCm39) |
|
probably null |
Het |
Fgfr1 |
A |
G |
8: 26,060,258 (GRCm39) |
T463A |
probably damaging |
Het |
Flvcr2 |
GTAGTGTATA |
GTA |
12: 85,849,922 (GRCm39) |
|
probably null |
Het |
Fsip2 |
T |
C |
2: 82,820,808 (GRCm39) |
S5514P |
possibly damaging |
Het |
Glrb |
A |
G |
3: 80,758,373 (GRCm39) |
Y347H |
probably damaging |
Het |
Gm14325 |
C |
A |
2: 177,474,767 (GRCm39) |
C105F |
probably damaging |
Het |
Hgsnat |
T |
C |
8: 26,444,665 (GRCm39) |
T428A |
probably damaging |
Het |
Ighv1-76 |
T |
C |
12: 115,811,934 (GRCm39) |
M1V |
probably null |
Het |
Inppl1 |
A |
G |
7: 101,472,783 (GRCm39) |
I1207T |
possibly damaging |
Het |
Kmt2c |
T |
A |
5: 25,519,537 (GRCm39) |
Q2191L |
probably damaging |
Het |
Krt79 |
T |
A |
15: 101,848,705 (GRCm39) |
|
probably null |
Het |
Mast4 |
G |
A |
13: 102,872,247 (GRCm39) |
L2374F |
probably damaging |
Het |
Mgam |
A |
G |
6: 40,657,169 (GRCm39) |
N951S |
probably benign |
Het |
Myl10 |
G |
C |
5: 136,726,825 (GRCm39) |
V70L |
probably benign |
Het |
Naip6 |
A |
T |
13: 100,431,344 (GRCm39) |
C1164* |
probably null |
Het |
Nfatc2ip |
G |
T |
7: 125,989,906 (GRCm39) |
D189E |
probably damaging |
Het |
Nrp1 |
A |
G |
8: 129,184,438 (GRCm39) |
D361G |
probably damaging |
Het |
Nrp2 |
T |
C |
1: 62,786,374 (GRCm39) |
I293T |
probably damaging |
Het |
Pate5 |
A |
T |
9: 35,750,719 (GRCm39) |
F34L |
possibly damaging |
Het |
Pde3a |
T |
C |
6: 141,433,611 (GRCm39) |
V831A |
probably damaging |
Het |
Pirb |
A |
G |
7: 3,715,905 (GRCm39) |
|
probably null |
Het |
Plch1 |
G |
T |
3: 63,610,047 (GRCm39) |
|
probably null |
Het |
Plekhh2 |
A |
G |
17: 84,898,277 (GRCm39) |
T973A |
possibly damaging |
Het |
Ppp1r35 |
T |
A |
5: 137,778,296 (GRCm39) |
I97K |
unknown |
Het |
Ppp1r3c |
C |
T |
19: 36,710,846 (GRCm39) |
G308E |
probably benign |
Het |
Prss12 |
G |
A |
3: 123,258,611 (GRCm39) |
|
probably null |
Het |
Rad51b |
A |
G |
12: 79,361,715 (GRCm39) |
D142G |
probably damaging |
Het |
Slc13a3 |
C |
T |
2: 165,248,745 (GRCm39) |
G553D |
probably damaging |
Het |
Spata31d1d |
A |
C |
13: 59,879,344 (GRCm39) |
V64G |
probably benign |
Het |
Srp68 |
G |
A |
11: 116,164,809 (GRCm39) |
R42C |
probably damaging |
Het |
Syne2 |
T |
C |
12: 76,062,365 (GRCm39) |
V4229A |
probably benign |
Het |
Tas2r144 |
G |
A |
6: 42,192,325 (GRCm39) |
V22M |
probably damaging |
Het |
Tcf7l1 |
A |
G |
6: 72,604,395 (GRCm39) |
L583P |
probably damaging |
Het |
Tdrd3 |
A |
G |
14: 87,749,214 (GRCm39) |
D708G |
probably benign |
Het |
Tns4 |
A |
T |
11: 98,976,627 (GRCm39) |
L98Q |
probably damaging |
Het |
Zfp677 |
T |
A |
17: 21,612,717 (GRCm39) |
|
probably null |
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 |
|
|
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'- AATGCTCTTCCTCGCTGAGC -3'
(R):5'- AGGTTAAGCCGGAGAAATTCTG -3'
Sequencing Primer
(F):5'- GTCAAGTTGGCACTGAACTCC -3'
(R):5'- AATTCTGGTAGGACAGATGCTG -3'
|
Posted On |
2020-07-13 |