Incidental Mutation 'IGL02928:Arhgap10'
ID |
363993 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Arhgap10
|
Ensembl Gene |
ENSMUSG00000037148 |
Gene Name |
Rho GTPase activating protein 10 |
Synonyms |
PSGAP-s, A930033B01Rik, PSGAP-m |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.165)
|
Stock # |
IGL02928
|
Quality Score |
|
Status
|
|
Chromosome |
8 |
Chromosomal Location |
77976995-78244582 bp(-) (GRCm39) |
Type of Mutation |
unclassified |
DNA Base Change (assembly) |
G to A
at 77977539 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000147485
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000076316]
[ENSMUST00000210519]
[ENSMUST00000210922]
|
AlphaFold |
Q6Y5D8 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000076316
|
SMART Domains |
Protein: ENSMUSP00000075658 Gene: ENSMUSG00000037148
Domain | Start | End | E-Value | Type |
Pfam:BAR_3
|
6 |
249 |
3.3e-91 |
PFAM |
PH
|
266 |
374 |
1.93e-6 |
SMART |
RhoGAP
|
393 |
571 |
1.66e-63 |
SMART |
low complexity region
|
633 |
649 |
N/A |
INTRINSIC |
SH3
|
731 |
786 |
1.91e-13 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000210519
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000210922
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
PHENOTYPE: Mice homozygous for an ENU-induced allele exhibit paraparesis, ataxic hindlimbs and splaying of hindlimbs. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 47 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700018F24Rik |
A |
G |
5: 144,980,327 (GRCm39) |
Y92C |
probably damaging |
Het |
Aadacl4fm1 |
A |
T |
4: 144,255,802 (GRCm39) |
L407F |
possibly damaging |
Het |
Abcc3 |
G |
T |
11: 94,252,132 (GRCm39) |
T817K |
possibly damaging |
Het |
Arhgef16 |
G |
T |
4: 154,367,350 (GRCm39) |
Q352K |
probably benign |
Het |
Cep104 |
A |
G |
4: 154,065,716 (GRCm39) |
I68V |
probably benign |
Het |
Col5a2 |
G |
A |
1: 45,424,180 (GRCm39) |
A1082V |
probably benign |
Het |
Col6a1 |
A |
T |
10: 76,545,500 (GRCm39) |
Y991N |
possibly damaging |
Het |
Ehmt2 |
T |
C |
17: 35,129,798 (GRCm39) |
I1021T |
probably damaging |
Het |
Eif2ak4 |
G |
A |
2: 118,303,168 (GRCm39) |
|
probably null |
Het |
Ern1 |
A |
G |
11: 106,296,705 (GRCm39) |
|
probably benign |
Het |
Fgf18 |
A |
T |
11: 33,074,674 (GRCm39) |
I99N |
possibly damaging |
Het |
Glp1r |
A |
G |
17: 31,137,911 (GRCm39) |
D114G |
probably benign |
Het |
Gm10553 |
A |
G |
1: 85,077,933 (GRCm39) |
K17E |
possibly damaging |
Het |
Gm5422 |
T |
A |
10: 31,126,250 (GRCm39) |
|
noncoding transcript |
Het |
Gnb1 |
A |
C |
4: 155,637,863 (GRCm39) |
T196P |
probably benign |
Het |
Ighv6-5 |
T |
A |
12: 114,380,412 (GRCm39) |
D35V |
probably benign |
Het |
Il18r1 |
G |
A |
1: 40,517,711 (GRCm39) |
|
probably null |
Het |
Ipo11 |
A |
T |
13: 107,025,863 (GRCm39) |
|
probably benign |
Het |
Itih1 |
T |
A |
14: 30,659,715 (GRCm39) |
Q307L |
probably damaging |
Het |
Mmp1b |
T |
A |
9: 7,368,242 (GRCm39) |
*464L |
probably null |
Het |
Mrps7 |
C |
T |
11: 115,495,910 (GRCm39) |
Q113* |
probably null |
Het |
Npat |
A |
C |
9: 53,478,138 (GRCm39) |
|
probably benign |
Het |
Nrp2 |
A |
G |
1: 62,854,605 (GRCm39) |
I852V |
probably damaging |
Het |
Or10ak14 |
A |
G |
4: 118,611,697 (GRCm39) |
F15L |
probably damaging |
Het |
Or5ae2 |
A |
G |
7: 84,506,273 (GRCm39) |
E232G |
probably benign |
Het |
P2rx6 |
T |
A |
16: 17,382,901 (GRCm39) |
|
probably benign |
Het |
Parp6 |
T |
A |
9: 59,548,346 (GRCm39) |
N466K |
possibly damaging |
Het |
Prss12 |
A |
T |
3: 123,280,805 (GRCm39) |
N497Y |
possibly damaging |
Het |
Psg22 |
T |
C |
7: 18,453,458 (GRCm39) |
V51A |
probably damaging |
Het |
Ptgir |
T |
C |
7: 16,642,923 (GRCm39) |
S175P |
possibly damaging |
Het |
Rd3l |
T |
C |
12: 111,946,012 (GRCm39) |
S156G |
probably benign |
Het |
Reck |
C |
T |
4: 43,912,078 (GRCm39) |
H196Y |
possibly damaging |
Het |
Rft1 |
T |
A |
14: 30,385,072 (GRCm39) |
V165D |
possibly damaging |
Het |
Rin2 |
A |
G |
2: 145,701,926 (GRCm39) |
|
probably benign |
Het |
Rufy4 |
A |
G |
1: 74,168,241 (GRCm39) |
|
probably benign |
Het |
Scfd2 |
G |
A |
5: 74,691,832 (GRCm39) |
T150M |
probably damaging |
Het |
Sgca |
A |
G |
11: 94,863,129 (GRCm39) |
W75R |
probably damaging |
Het |
Sirt7 |
A |
T |
11: 120,511,042 (GRCm39) |
D318E |
probably benign |
Het |
Smr2l |
A |
T |
5: 88,424,976 (GRCm39) |
I14L |
probably benign |
Het |
Snta1 |
C |
T |
2: 154,222,959 (GRCm39) |
A255T |
probably benign |
Het |
Stxbp2 |
A |
G |
8: 3,691,736 (GRCm39) |
D485G |
probably damaging |
Het |
Sycp1 |
T |
A |
3: 102,726,134 (GRCm39) |
|
probably benign |
Het |
Tenm2 |
A |
G |
11: 35,917,997 (GRCm39) |
V1922A |
possibly damaging |
Het |
Ttc7b |
A |
T |
12: 100,369,674 (GRCm39) |
V365D |
probably damaging |
Het |
Upk3b |
A |
G |
5: 136,067,995 (GRCm39) |
E62G |
probably benign |
Het |
Wdr36 |
T |
C |
18: 32,980,372 (GRCm39) |
|
probably null |
Het |
Yars2 |
T |
C |
16: 16,121,410 (GRCm39) |
F188S |
probably damaging |
Het |
|
Other mutations in Arhgap10 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01529:Arhgap10
|
APN |
8 |
78,072,920 (GRCm39) |
missense |
possibly damaging |
0.80 |
IGL01689:Arhgap10
|
APN |
8 |
78,137,763 (GRCm39) |
splice site |
probably benign |
|
IGL01802:Arhgap10
|
APN |
8 |
78,146,714 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL01832:Arhgap10
|
APN |
8 |
77,985,758 (GRCm39) |
missense |
probably benign |
0.00 |
IGL02291:Arhgap10
|
APN |
8 |
78,109,344 (GRCm39) |
splice site |
probably benign |
|
IGL02834:Arhgap10
|
APN |
8 |
78,091,729 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03149:Arhgap10
|
APN |
8 |
78,136,167 (GRCm39) |
splice site |
probably benign |
|
IGL03215:Arhgap10
|
APN |
8 |
78,003,781 (GRCm39) |
missense |
probably benign |
|
IGL03331:Arhgap10
|
APN |
8 |
78,146,711 (GRCm39) |
missense |
probably damaging |
0.99 |
R0276:Arhgap10
|
UTSW |
8 |
78,140,210 (GRCm39) |
missense |
probably benign |
0.11 |
R0376:Arhgap10
|
UTSW |
8 |
78,177,453 (GRCm39) |
splice site |
probably benign |
|
R0454:Arhgap10
|
UTSW |
8 |
77,977,594 (GRCm39) |
missense |
probably damaging |
0.97 |
R0714:Arhgap10
|
UTSW |
8 |
78,078,316 (GRCm39) |
splice site |
probably benign |
|
R1033:Arhgap10
|
UTSW |
8 |
77,983,976 (GRCm39) |
missense |
possibly damaging |
0.80 |
R1036:Arhgap10
|
UTSW |
8 |
78,037,398 (GRCm39) |
missense |
probably damaging |
0.98 |
R1083:Arhgap10
|
UTSW |
8 |
78,244,378 (GRCm39) |
missense |
probably damaging |
1.00 |
R1596:Arhgap10
|
UTSW |
8 |
78,177,326 (GRCm39) |
missense |
possibly damaging |
0.93 |
R1710:Arhgap10
|
UTSW |
8 |
78,085,216 (GRCm39) |
nonsense |
probably null |
|
R1918:Arhgap10
|
UTSW |
8 |
77,985,708 (GRCm39) |
missense |
probably benign |
|
R1937:Arhgap10
|
UTSW |
8 |
78,071,282 (GRCm39) |
missense |
probably damaging |
1.00 |
R1959:Arhgap10
|
UTSW |
8 |
78,136,255 (GRCm39) |
missense |
possibly damaging |
0.78 |
R2348:Arhgap10
|
UTSW |
8 |
78,177,555 (GRCm39) |
splice site |
probably benign |
|
R3703:Arhgap10
|
UTSW |
8 |
77,985,685 (GRCm39) |
critical splice donor site |
probably null |
|
R3979:Arhgap10
|
UTSW |
8 |
78,147,354 (GRCm39) |
missense |
probably benign |
0.01 |
R4854:Arhgap10
|
UTSW |
8 |
78,146,718 (GRCm39) |
nonsense |
probably null |
|
R4855:Arhgap10
|
UTSW |
8 |
78,159,367 (GRCm39) |
critical splice donor site |
probably null |
|
R4928:Arhgap10
|
UTSW |
8 |
78,152,957 (GRCm39) |
critical splice donor site |
probably null |
|
R5033:Arhgap10
|
UTSW |
8 |
78,109,386 (GRCm39) |
missense |
probably damaging |
0.99 |
R5532:Arhgap10
|
UTSW |
8 |
78,146,701 (GRCm39) |
missense |
probably benign |
0.19 |
R5644:Arhgap10
|
UTSW |
8 |
78,137,684 (GRCm39) |
missense |
probably benign |
0.00 |
R5781:Arhgap10
|
UTSW |
8 |
78,177,336 (GRCm39) |
missense |
possibly damaging |
0.56 |
R5824:Arhgap10
|
UTSW |
8 |
78,085,181 (GRCm39) |
nonsense |
probably null |
|
R5861:Arhgap10
|
UTSW |
8 |
78,037,393 (GRCm39) |
missense |
probably damaging |
1.00 |
R5872:Arhgap10
|
UTSW |
8 |
78,071,267 (GRCm39) |
critical splice donor site |
probably null |
|
R6360:Arhgap10
|
UTSW |
8 |
77,985,831 (GRCm39) |
nonsense |
probably null |
|
R6423:Arhgap10
|
UTSW |
8 |
78,244,386 (GRCm39) |
missense |
probably damaging |
1.00 |
R6694:Arhgap10
|
UTSW |
8 |
78,137,692 (GRCm39) |
missense |
probably benign |
0.00 |
R6900:Arhgap10
|
UTSW |
8 |
78,037,491 (GRCm39) |
missense |
probably damaging |
1.00 |
R6936:Arhgap10
|
UTSW |
8 |
78,037,376 (GRCm39) |
nonsense |
probably null |
|
R7001:Arhgap10
|
UTSW |
8 |
78,091,717 (GRCm39) |
missense |
possibly damaging |
0.51 |
R7150:Arhgap10
|
UTSW |
8 |
77,977,583 (GRCm39) |
missense |
probably damaging |
1.00 |
R7461:Arhgap10
|
UTSW |
8 |
78,115,326 (GRCm39) |
missense |
probably damaging |
0.99 |
R7525:Arhgap10
|
UTSW |
8 |
78,146,699 (GRCm39) |
critical splice donor site |
probably null |
|
R8051:Arhgap10
|
UTSW |
8 |
78,244,309 (GRCm39) |
missense |
probably damaging |
0.97 |
R8081:Arhgap10
|
UTSW |
8 |
78,109,375 (GRCm39) |
missense |
possibly damaging |
0.68 |
R8175:Arhgap10
|
UTSW |
8 |
78,037,471 (GRCm39) |
missense |
probably benign |
0.03 |
R8262:Arhgap10
|
UTSW |
8 |
78,037,468 (GRCm39) |
missense |
probably benign |
|
R8702:Arhgap10
|
UTSW |
8 |
77,985,732 (GRCm39) |
missense |
probably benign |
|
R8778:Arhgap10
|
UTSW |
8 |
78,140,240 (GRCm39) |
missense |
probably damaging |
1.00 |
R9015:Arhgap10
|
UTSW |
8 |
77,985,687 (GRCm39) |
missense |
probably benign |
|
R9113:Arhgap10
|
UTSW |
8 |
77,985,701 (GRCm39) |
missense |
probably damaging |
1.00 |
R9275:Arhgap10
|
UTSW |
8 |
78,137,665 (GRCm39) |
missense |
probably damaging |
1.00 |
R9457:Arhgap10
|
UTSW |
8 |
78,111,415 (GRCm39) |
missense |
probably benign |
0.43 |
R9623:Arhgap10
|
UTSW |
8 |
77,985,786 (GRCm39) |
missense |
probably benign |
|
Z1176:Arhgap10
|
UTSW |
8 |
78,159,434 (GRCm39) |
missense |
probably damaging |
0.97 |
Z1176:Arhgap10
|
UTSW |
8 |
78,003,804 (GRCm39) |
missense |
probably benign |
0.01 |
|
Posted On |
2015-12-18 |