Incidental Mutation 'R7001:Arhgap10'
| ID |
544546 |
| 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 |
045106-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.165)
|
| Stock # |
R7001 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
77976995-78244582 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 78091717 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Lysine
at position 434
(M434K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000147485
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000076316]
[ENSMUST00000210519]
[ENSMUST00000210922]
|
| AlphaFold |
Q6Y5D8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000076316
AA Change: M434K
PolyPhen 2
Score 0.249 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000075658
Gene: ENSMUSG00000037148
AA Change: M434K
| 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
AA Change: M412K
PolyPhen 2
Score 0.320 (Sensitivity: 0.90; Specificity: 0.89)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000210922
AA Change: M434K
PolyPhen 2
Score 0.512 (Sensitivity: 0.88; Specificity: 0.90)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 98.8%
|
| Validation Efficiency |
100% (56/56) |
| 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: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1110002E22Rik |
C |
A |
3: 137,771,272 (GRCm39) |
Q154K |
probably benign |
Het |
| Aldh6a1 |
T |
G |
12: 84,488,662 (GRCm39) |
T75P |
probably damaging |
Het |
| Ank2 |
T |
A |
3: 126,871,230 (GRCm39) |
H98L |
probably damaging |
Het |
| Ankib1 |
A |
G |
5: 3,744,781 (GRCm39) |
F800S |
probably benign |
Het |
| Cap1 |
A |
T |
4: 122,758,408 (GRCm39) |
F257L |
probably benign |
Het |
| Cdt1 |
T |
A |
8: 123,299,249 (GRCm39) |
H510Q |
probably damaging |
Het |
| Clca3b |
A |
C |
3: 144,533,733 (GRCm39) |
D547E |
possibly damaging |
Het |
| Col24a1 |
T |
C |
3: 145,004,627 (GRCm39) |
V35A |
probably benign |
Het |
| Cyp2j13 |
A |
T |
4: 95,945,112 (GRCm39) |
N305K |
probably damaging |
Het |
| D3Ertd751e |
T |
A |
3: 41,712,844 (GRCm39) |
|
probably null |
Het |
| D6Ertd527e |
G |
A |
6: 87,088,194 (GRCm39) |
G119D |
unknown |
Het |
| Ddc |
T |
C |
11: 11,774,870 (GRCm39) |
|
probably null |
Het |
| Dnah12 |
A |
T |
14: 26,601,681 (GRCm39) |
Y3713F |
probably damaging |
Het |
| Dock8 |
T |
A |
19: 25,077,041 (GRCm39) |
S504T |
probably benign |
Het |
| Farp2 |
T |
C |
1: 93,547,906 (GRCm39) |
F941L |
possibly damaging |
Het |
| Farp2 |
A |
G |
1: 93,547,952 (GRCm39) |
N956S |
possibly damaging |
Het |
| Fbxo3 |
T |
A |
2: 103,881,569 (GRCm39) |
H300Q |
probably damaging |
Het |
| Fcgrt |
T |
C |
7: 44,751,466 (GRCm39) |
T131A |
probably benign |
Het |
| Fndc7 |
G |
A |
3: 108,783,964 (GRCm39) |
A215V |
probably benign |
Het |
| Frem1 |
T |
C |
4: 82,904,798 (GRCm39) |
E890G |
probably benign |
Het |
| Fsip2 |
C |
A |
2: 82,817,269 (GRCm39) |
P4334H |
probably damaging |
Het |
| Gcdh |
C |
A |
8: 85,617,540 (GRCm39) |
V227L |
probably benign |
Het |
| Gm8267 |
A |
C |
14: 44,960,385 (GRCm39) |
M120R |
possibly damaging |
Het |
| Gpatch2l |
G |
A |
12: 86,290,958 (GRCm39) |
R47H |
probably damaging |
Het |
| Lasp1 |
T |
G |
11: 97,697,659 (GRCm39) |
H26Q |
probably damaging |
Het |
| Lrrcc1 |
T |
A |
3: 14,605,155 (GRCm39) |
I297N |
probably damaging |
Het |
| Map1b |
A |
T |
13: 99,567,101 (GRCm39) |
N1873K |
unknown |
Het |
| Map2 |
A |
G |
1: 66,454,646 (GRCm39) |
I1179V |
probably benign |
Het |
| Mtss1 |
A |
C |
15: 58,820,183 (GRCm39) |
|
probably benign |
Het |
| Mtus2 |
A |
G |
5: 148,214,438 (GRCm39) |
E28G |
probably damaging |
Het |
| Muc6 |
G |
A |
7: 141,217,320 (GRCm39) |
T2386I |
probably damaging |
Het |
| Myo3a |
G |
T |
2: 22,337,188 (GRCm39) |
V362L |
probably benign |
Het |
| N6amt1 |
G |
A |
16: 87,151,180 (GRCm39) |
V14M |
probably benign |
Het |
| Nav1 |
A |
T |
1: 135,382,349 (GRCm39) |
|
probably null |
Het |
| Nol6 |
A |
G |
4: 41,121,279 (GRCm39) |
S326P |
probably benign |
Het |
| Olr1 |
T |
A |
6: 129,465,074 (GRCm39) |
E100V |
probably damaging |
Het |
| Or52ab4 |
A |
G |
7: 102,987,428 (GRCm39) |
S56G |
possibly damaging |
Het |
| Or8k37 |
A |
T |
2: 86,469,495 (GRCm39) |
S186T |
probably benign |
Het |
| Otop3 |
T |
C |
11: 115,230,479 (GRCm39) |
Y119H |
probably damaging |
Het |
| Prb1b |
C |
T |
6: 132,289,527 (GRCm39) |
G99E |
unknown |
Het |
| Ryr2 |
A |
T |
13: 11,809,491 (GRCm39) |
M778K |
probably damaging |
Het |
| Serpina3n |
G |
T |
12: 104,375,184 (GRCm39) |
M85I |
probably benign |
Het |
| Serpine2 |
A |
G |
1: 79,772,748 (GRCm39) |
F390L |
probably damaging |
Het |
| Sf3b1 |
A |
G |
1: 55,040,205 (GRCm39) |
V591A |
probably damaging |
Het |
| Sf3b1 |
A |
G |
1: 55,053,640 (GRCm39) |
|
probably null |
Het |
| Slc26a5 |
C |
T |
5: 22,016,334 (GRCm39) |
V646I |
probably damaging |
Het |
| Slitrk3 |
T |
A |
3: 72,957,942 (GRCm39) |
K277* |
probably null |
Het |
| Sv2c |
A |
G |
13: 96,118,461 (GRCm39) |
S463P |
probably benign |
Het |
| Tbc1d4 |
G |
A |
14: 101,696,185 (GRCm39) |
T858M |
probably benign |
Het |
| Tbx18 |
T |
A |
9: 87,609,457 (GRCm39) |
I193F |
probably damaging |
Het |
| Tm6sf2 |
A |
C |
8: 70,530,982 (GRCm39) |
D245A |
probably damaging |
Het |
| Unc119 |
T |
C |
11: 78,239,380 (GRCm39) |
Y234H |
probably damaging |
Het |
| Wrn |
A |
T |
8: 33,842,157 (GRCm39) |
S46T |
probably benign |
Het |
| Zfp729a |
A |
T |
13: 67,768,468 (GRCm39) |
I587K |
probably benign |
Het |
| Zfp872 |
C |
A |
9: 22,111,912 (GRCm39) |
H464N |
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 |
|
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 |
|
|
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'- ACTGTGAGAGGCATGTACCTATG -3'
(R):5'- AGGAATGCTGCTGTTGCGAG -3'
Sequencing Primer
(F):5'- AGGCATGTACCTATGAGCTGCATTC -3'
(R):5'- CGAGTTATCAGAGATTTTGGAATGC -3'
|
| Posted On |
2019-05-13 |
Incidental Mutation