Incidental Mutation 'R5872:Arhgap10'
ID |
455255 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Arhgap10
|
Ensembl Gene |
ENSMUSG00000037148 |
Gene Name |
Rho GTPase activating protein 10 |
Synonyms |
PSGAP-s, A930033B01Rik, PSGAP-m |
MMRRC Submission |
044079-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.165)
|
Stock # |
R5872 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
8 |
Chromosomal Location |
77976995-78244582 bp(-) (GRCm39) |
Type of Mutation |
critical splice donor site (2 bp from exon) |
DNA Base Change (assembly) |
A to G
at 78071267 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 null
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 null
Transcript: ENSMUST00000210519
|
Predicted Effect |
probably null
Transcript: ENSMUST00000210922
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 97.8%
- 20x: 93.6%
|
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: 66 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
3425401B19Rik |
A |
G |
14: 32,382,309 (GRCm39) |
S1219P |
possibly damaging |
Het |
A2ml1 |
A |
G |
6: 128,538,489 (GRCm39) |
Y644H |
probably damaging |
Het |
Abca9 |
T |
G |
11: 110,007,902 (GRCm39) |
R1232S |
possibly damaging |
Het |
Acsf2 |
C |
T |
11: 94,463,975 (GRCm39) |
V70M |
probably benign |
Het |
Ampd1 |
A |
G |
3: 102,986,446 (GRCm39) |
I42V |
probably benign |
Het |
Atp1a4 |
A |
T |
1: 172,071,975 (GRCm39) |
L432Q |
probably damaging |
Het |
Bbs12 |
T |
A |
3: 37,374,598 (GRCm39) |
C349S |
possibly damaging |
Het |
Bnc2 |
A |
G |
4: 84,211,007 (GRCm39) |
V479A |
possibly damaging |
Het |
Cald1 |
A |
T |
6: 34,748,043 (GRCm39) |
K761* |
probably null |
Het |
Cd177 |
C |
T |
7: 24,451,688 (GRCm39) |
G443R |
probably null |
Het |
Cdc42bpb |
T |
C |
12: 111,292,410 (GRCm39) |
D375G |
probably damaging |
Het |
Chsy3 |
T |
C |
18: 59,309,268 (GRCm39) |
Y174H |
probably damaging |
Het |
Cmya5 |
T |
C |
13: 93,233,943 (GRCm39) |
M382V |
probably benign |
Het |
Col1a2 |
G |
A |
6: 4,531,926 (GRCm39) |
S782N |
unknown |
Het |
Crtac1 |
C |
T |
19: 42,297,629 (GRCm39) |
|
probably null |
Het |
Csmd3 |
T |
A |
15: 47,445,923 (GRCm39) |
D3683V |
probably damaging |
Het |
Ctrc |
A |
G |
4: 141,572,354 (GRCm39) |
L62P |
probably damaging |
Het |
Cyp3a57 |
A |
T |
5: 145,307,867 (GRCm39) |
K208* |
probably null |
Het |
Dnaaf2 |
A |
T |
12: 69,244,122 (GRCm39) |
L313Q |
probably damaging |
Het |
Dtl |
A |
G |
1: 191,278,680 (GRCm39) |
L394P |
probably benign |
Het |
Ehhadh |
T |
C |
16: 21,585,305 (GRCm39) |
E192G |
probably benign |
Het |
Fads2 |
T |
C |
19: 10,059,997 (GRCm39) |
I226V |
probably benign |
Het |
Fat2 |
T |
C |
11: 55,161,208 (GRCm39) |
E3174G |
probably damaging |
Het |
Galnt14 |
C |
T |
17: 73,881,826 (GRCm39) |
R91Q |
probably damaging |
Het |
Hdhd5 |
G |
T |
6: 120,487,252 (GRCm39) |
D368E |
probably benign |
Het |
Hk3 |
T |
A |
13: 55,158,617 (GRCm39) |
I528F |
probably damaging |
Het |
Il10ra |
A |
C |
9: 45,166,951 (GRCm39) |
S533R |
possibly damaging |
Het |
Itpr3 |
G |
T |
17: 27,305,950 (GRCm39) |
K169N |
probably benign |
Het |
Lrrc17 |
A |
G |
5: 21,780,264 (GRCm39) |
T413A |
probably benign |
Het |
Mcm2 |
C |
T |
6: 88,861,053 (GRCm39) |
D882N |
probably benign |
Het |
Met |
T |
C |
6: 17,562,197 (GRCm39) |
V1186A |
probably damaging |
Het |
Msh5 |
C |
T |
17: 35,248,628 (GRCm39) |
|
probably null |
Het |
Nav3 |
T |
C |
10: 109,600,648 (GRCm39) |
I1326M |
probably damaging |
Het |
Nek10 |
A |
G |
14: 14,850,896 (GRCm38) |
I314V |
probably benign |
Het |
Or10g1 |
A |
C |
14: 52,648,225 (GRCm39) |
F35V |
probably damaging |
Het |
Or8b53 |
T |
A |
9: 38,667,412 (GRCm39) |
Y143N |
probably benign |
Het |
Pim1 |
A |
G |
17: 29,712,720 (GRCm39) |
E211G |
probably damaging |
Het |
Plaat1 |
T |
A |
16: 29,039,189 (GRCm39) |
Y90N |
probably benign |
Het |
Ppp1r12b |
A |
T |
1: 134,704,144 (GRCm39) |
D903E |
probably benign |
Het |
Ptpn14 |
T |
C |
1: 189,583,229 (GRCm39) |
L692P |
probably benign |
Het |
Ptprt |
A |
G |
2: 161,977,138 (GRCm39) |
C387R |
probably damaging |
Het |
Qrfprl |
A |
G |
6: 65,418,369 (GRCm39) |
|
probably benign |
Het |
Scarb1 |
A |
G |
5: 125,381,341 (GRCm39) |
Y68H |
possibly damaging |
Het |
Shisa6 |
T |
A |
11: 66,108,800 (GRCm39) |
D359V |
probably damaging |
Het |
Shprh |
T |
C |
10: 11,063,817 (GRCm39) |
S1297P |
probably damaging |
Het |
Sik1 |
T |
C |
17: 32,069,125 (GRCm39) |
D250G |
probably damaging |
Het |
Slamf7 |
A |
G |
1: 171,466,635 (GRCm39) |
L190S |
probably damaging |
Het |
Slc22a3 |
G |
A |
17: 12,652,355 (GRCm39) |
P423L |
probably damaging |
Het |
Slc35e2 |
A |
T |
4: 155,697,137 (GRCm39) |
E217V |
probably damaging |
Het |
Spocd1 |
A |
T |
4: 129,850,254 (GRCm39) |
N760I |
probably damaging |
Het |
Tas2r136 |
G |
T |
6: 132,754,294 (GRCm39) |
P278T |
possibly damaging |
Het |
Tchhl1 |
A |
T |
3: 93,377,836 (GRCm39) |
Q180L |
probably benign |
Het |
Tmem151b |
T |
A |
17: 45,858,010 (GRCm39) |
T79S |
probably benign |
Het |
Tomm70a |
T |
A |
16: 56,965,105 (GRCm39) |
C430S |
probably benign |
Het |
Trbv16 |
T |
A |
6: 41,128,936 (GRCm39) |
L40Q |
probably damaging |
Het |
Trmt1l |
T |
G |
1: 151,316,594 (GRCm39) |
I32S |
probably damaging |
Het |
Ubr4 |
A |
G |
4: 139,152,641 (GRCm39) |
T2011A |
probably damaging |
Het |
Urb1 |
C |
T |
16: 90,569,652 (GRCm39) |
W1358* |
probably null |
Het |
Usp31 |
T |
G |
7: 121,248,698 (GRCm39) |
H915P |
probably benign |
Het |
Vmn2r10 |
A |
T |
5: 109,151,377 (GRCm39) |
M79K |
possibly damaging |
Het |
Vmn2r14 |
A |
G |
5: 109,369,222 (GRCm39) |
I117T |
probably benign |
Het |
Vps13b |
A |
G |
15: 35,869,497 (GRCm39) |
H2667R |
possibly damaging |
Het |
Vwa5b1 |
G |
A |
4: 138,305,962 (GRCm39) |
T912M |
possibly damaging |
Het |
Zfp709 |
G |
A |
8: 72,643,363 (GRCm39) |
C264Y |
probably benign |
Het |
Zkscan5 |
A |
G |
5: 145,156,898 (GRCm39) |
I467V |
probably benign |
Het |
Zxdc |
A |
T |
6: 90,347,281 (GRCm39) |
D214V |
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 |
IGL02928:Arhgap10
|
APN |
8 |
77,977,539 (GRCm39) |
unclassified |
probably benign |
|
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- GCTCAATCACTCCTGCACTG -3'
(R):5'- CAATATTAGCGTGTCAAGTCACTC -3'
Sequencing Primer
(F):5'- AAGCTTCCTCAGTGAAGCG -3'
(R):5'- TAGCGTGTCAAGTCACTCGAAGC -3'
|
Posted On |
2017-02-10 |