Incidental Mutation 'R8778:Arhgap10'
| ID |
670123 |
| 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 |
068603-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.160)
|
| Stock # |
R8778 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
77976995-78244582 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 78140240 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 240
(E240G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000075658
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000076316]
[ENSMUST00000210519]
[ENSMUST00000210922]
|
| AlphaFold |
Q6Y5D8 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000076316
AA Change: E240G
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000075658
Gene: ENSMUSG00000037148
AA Change: E240G
| 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 damaging
Transcript: ENSMUST00000210519
AA Change: E240G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000210922
AA Change: E240G
PolyPhen 2
Score 0.929 (Sensitivity: 0.81; Specificity: 0.94)
|
| Meta Mutation Damage Score |
0.2126 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
| Validation Efficiency |
98% (48/49) |
| 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: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A430033K04Rik |
T |
A |
5: 138,645,149 (GRCm39) |
C345S |
possibly damaging |
Het |
| Acod1 |
A |
G |
14: 103,292,918 (GRCm39) |
T481A |
probably benign |
Het |
| Adamtsl1 |
T |
C |
4: 85,432,687 (GRCm39) |
V5A |
probably benign |
Het |
| Ahnak2 |
T |
A |
12: 112,783,158 (GRCm38) |
Q1023L |
|
Het |
| Akt1 |
C |
T |
12: 112,625,102 (GRCm39) |
E149K |
probably benign |
Het |
| Asap1 |
G |
A |
15: 63,999,258 (GRCm39) |
P516S |
probably benign |
Het |
| Ccdc88c |
T |
C |
12: 100,911,483 (GRCm39) |
R784G |
probably benign |
Het |
| Cep290 |
T |
A |
10: 100,350,374 (GRCm39) |
L656* |
probably null |
Het |
| Chd2 |
A |
C |
7: 73,079,483 (GRCm39) |
S1806A |
possibly damaging |
Het |
| Cyp4f15 |
G |
T |
17: 32,921,378 (GRCm39) |
A475S |
probably damaging |
Het |
| Dnah12 |
A |
G |
14: 26,455,718 (GRCm39) |
T814A |
probably benign |
Het |
| Dnah8 |
CGTGTCTTCAATATTTTGTTCCCTTTCCCGTAGGTGCCGTCCTTTGACTTTCCTGTGTCTTCAATATTTTGTTCCCTTTCCCGTAGGTGCCGTCCTTTGACTTTCCTGTGTCTTCAATATTTTGTTCCCTTTCCCGTAGGTGCCGTCCTT |
CGTGTCTTCAATATTTTGTTCCCTTTCCCGTAGGTGCCGTCCTTTGACTTTCCTGTGTCTTCAATATTTTGTTCCCTTTCCCGTAGGTGCCGTCCTT |
17: 30,979,841 (GRCm39) |
|
probably null |
Het |
| Eif4g1 |
G |
A |
16: 20,492,196 (GRCm39) |
|
probably benign |
Het |
| Entpd8 |
G |
A |
2: 24,971,858 (GRCm39) |
V9I |
probably benign |
Het |
| Frmd4a |
C |
T |
2: 4,478,026 (GRCm39) |
T65M |
probably damaging |
Het |
| Gabrr2 |
T |
C |
4: 33,095,517 (GRCm39) |
Y469H |
probably damaging |
Het |
| Gjd3 |
T |
C |
11: 98,873,842 (GRCm39) |
M1V |
probably null |
Het |
| Golga7 |
T |
C |
8: 23,735,944 (GRCm39) |
N101D |
possibly damaging |
Het |
| Hebp1 |
A |
G |
6: 135,145,068 (GRCm39) |
F10L |
probably benign |
Het |
| Hs3st3a1 |
T |
A |
11: 64,327,251 (GRCm39) |
V120E |
probably benign |
Het |
| Idh1 |
CA |
CAA |
1: 65,204,347 (GRCm39) |
|
probably null |
Het |
| Iho1 |
A |
G |
9: 108,282,807 (GRCm39) |
S294P |
probably damaging |
Het |
| Inhbc |
A |
G |
10: 127,193,693 (GRCm39) |
S108P |
probably damaging |
Het |
| Itgbl1 |
T |
A |
14: 124,078,075 (GRCm39) |
D188E |
probably benign |
Het |
| Lmo7 |
T |
G |
14: 102,149,503 (GRCm39) |
S1091A |
probably damaging |
Het |
| Lmo7 |
T |
C |
14: 102,156,655 (GRCm39) |
V1275A |
probably benign |
Het |
| Lrrc25 |
T |
G |
8: 71,070,242 (GRCm39) |
L8V |
possibly damaging |
Het |
| Lyst |
T |
C |
13: 13,810,361 (GRCm39) |
I677T |
possibly damaging |
Het |
| Lyst |
A |
G |
13: 13,903,152 (GRCm39) |
N3174S |
possibly damaging |
Het |
| Mgst3 |
C |
T |
1: 167,203,032 (GRCm39) |
V80I |
probably benign |
Het |
| Mtmr12 |
A |
G |
15: 12,270,006 (GRCm39) |
N698S |
probably benign |
Het |
| Myo18a |
A |
G |
11: 77,714,150 (GRCm39) |
Y748C |
probably damaging |
Het |
| Myoz2 |
T |
C |
3: 122,800,156 (GRCm39) |
N224S |
possibly damaging |
Het |
| Nebl |
T |
C |
2: 17,409,078 (GRCm39) |
Y340C |
probably damaging |
Het |
| Or10h28 |
T |
C |
17: 33,488,420 (GRCm39) |
S241P |
probably damaging |
Het |
| Pcdha9 |
G |
T |
18: 37,132,244 (GRCm39) |
V438L |
possibly damaging |
Het |
| Pramel13 |
T |
C |
4: 144,119,466 (GRCm39) |
D367G |
probably damaging |
Het |
| Semp2l2b |
T |
A |
10: 21,943,356 (GRCm39) |
E208V |
probably damaging |
Het |
| Sfrp2 |
T |
G |
3: 83,674,093 (GRCm39) |
L82R |
probably damaging |
Het |
| Spata7 |
T |
A |
12: 98,624,815 (GRCm39) |
L239Q |
probably damaging |
Het |
| Syncrip |
A |
T |
9: 88,338,294 (GRCm39) |
I590N |
unknown |
Het |
| Syne1 |
T |
C |
10: 5,309,066 (GRCm39) |
T648A |
probably benign |
Het |
| Tmc5 |
A |
G |
7: 118,222,816 (GRCm39) |
Y172C |
unknown |
Het |
| Trim30a |
A |
T |
7: 104,060,772 (GRCm39) |
Y335N |
probably benign |
Het |
| Trmt10c |
A |
G |
16: 55,855,372 (GRCm39) |
S88P |
probably benign |
Het |
| Trpc3 |
T |
C |
3: 36,725,070 (GRCm39) |
E302G |
probably damaging |
Het |
| Ttn |
T |
C |
2: 76,591,580 (GRCm39) |
T21030A |
possibly damaging |
Het |
| Uba6 |
G |
T |
5: 86,260,556 (GRCm39) |
P1039T |
possibly damaging |
Het |
| Vmn2r75 |
A |
T |
7: 85,813,497 (GRCm39) |
I435N |
probably benign |
Het |
| Zfp1008 |
T |
C |
13: 62,753,169 (GRCm39) |
K73E |
possibly damaging |
Het |
| Zkscan5 |
T |
C |
5: 145,155,142 (GRCm39) |
V271A |
probably benign |
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 |
|
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 |
|
|
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'- AGGAATGTGTGCACGCTGTG -3'
(R):5'- AGCTCACCCTCTCGATTGACTG -3'
Sequencing Primer
(F):5'- GAGAACCTGCATTTGGCTCAC -3'
(R):5'- ACTCTGTCATCTTCGGATATCAATC -3'
|
| Posted On |
2021-04-30 |
Incidental Mutation