Incidental Mutation 'R1033:Arhgap10'
| ID |
95272 |
| 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 |
039132-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.165)
|
| Stock # |
R1033 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
77976995-78244582 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 77983976 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Leucine
at position 700
(I700L)
|
| 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: I751L
PolyPhen 2
Score 0.430 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000075658
Gene: ENSMUSG00000037148
AA Change: I751L
| 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: I729L
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000210922
AA Change: I700L
PolyPhen 2
Score 0.797 (Sensitivity: 0.84; Specificity: 0.93)
|
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.1%
- 10x: 95.7%
- 20x: 91.7%
|
| 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: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aasdh |
G |
A |
5: 77,024,130 (GRCm39) |
T174M |
probably damaging |
Het |
| Akap6 |
A |
C |
12: 53,116,005 (GRCm39) |
D1036A |
probably damaging |
Het |
| Alg6 |
T |
C |
4: 99,650,270 (GRCm39) |
S497P |
probably benign |
Het |
| Atp11a |
A |
G |
8: 12,878,555 (GRCm39) |
Y377C |
probably damaging |
Het |
| Atp2b2 |
A |
T |
6: 113,770,849 (GRCm39) |
|
probably null |
Het |
| Card14 |
T |
A |
11: 119,229,196 (GRCm39) |
V702D |
probably damaging |
Het |
| Ccdc17 |
C |
T |
4: 116,454,077 (GRCm39) |
R32* |
probably null |
Het |
| Cdh20 |
A |
T |
1: 110,012,783 (GRCm39) |
D372V |
probably damaging |
Het |
| Cfap54 |
A |
T |
10: 92,675,311 (GRCm39) |
I2870N |
probably benign |
Het |
| Cped1 |
G |
T |
6: 22,016,950 (GRCm39) |
V100F |
probably damaging |
Het |
| Dapk1 |
T |
C |
13: 60,869,679 (GRCm39) |
|
probably null |
Het |
| Exoc4 |
G |
A |
6: 33,242,922 (GRCm39) |
G45D |
probably damaging |
Het |
| Fam110b |
A |
T |
4: 5,799,440 (GRCm39) |
N286I |
probably benign |
Het |
| Fbxo10 |
A |
T |
4: 45,062,236 (GRCm39) |
C97S |
probably damaging |
Het |
| Frem3 |
A |
T |
8: 81,421,786 (GRCm39) |
H2062L |
probably benign |
Het |
| Frk |
T |
C |
10: 34,484,454 (GRCm39) |
C476R |
probably damaging |
Het |
| Gm10542 |
A |
G |
18: 44,337,668 (GRCm39) |
T49A |
probably benign |
Het |
| Gm128 |
A |
G |
3: 95,147,322 (GRCm39) |
V324A |
possibly damaging |
Het |
| Gpr141 |
C |
T |
13: 19,935,880 (GRCm39) |
M298I |
probably benign |
Het |
| Gxylt1 |
T |
C |
15: 93,142,958 (GRCm39) |
E369G |
probably benign |
Het |
| Hpse2 |
A |
G |
19: 42,901,638 (GRCm39) |
V368A |
probably benign |
Het |
| Ice1 |
A |
T |
13: 70,754,713 (GRCm39) |
S458T |
probably damaging |
Het |
| Itgb7 |
T |
A |
15: 102,131,989 (GRCm39) |
D198V |
probably damaging |
Het |
| Kcnk10 |
A |
G |
12: 98,484,929 (GRCm39) |
V72A |
possibly damaging |
Het |
| Magel2 |
A |
G |
7: 62,029,798 (GRCm39) |
M901V |
unknown |
Het |
| Mgam |
A |
T |
6: 40,657,558 (GRCm39) |
Y971F |
probably benign |
Het |
| Mib2 |
C |
T |
4: 155,743,917 (GRCm39) |
G42S |
probably damaging |
Het |
| Mug1 |
A |
T |
6: 121,857,510 (GRCm39) |
D1078V |
probably damaging |
Het |
| Myom2 |
G |
A |
8: 15,158,934 (GRCm39) |
R870H |
probably benign |
Het |
| Nek8 |
A |
T |
11: 78,062,111 (GRCm39) |
L71Q |
probably null |
Het |
| Nox4 |
T |
A |
7: 87,023,621 (GRCm39) |
D502E |
probably damaging |
Het |
| Nsmaf |
G |
A |
4: 6,438,054 (GRCm39) |
P73S |
probably damaging |
Het |
| Nup205 |
C |
T |
6: 35,204,377 (GRCm39) |
A1421V |
probably benign |
Het |
| Nxpe4 |
T |
C |
9: 48,304,533 (GRCm39) |
F207L |
probably damaging |
Het |
| Or1p1 |
A |
C |
11: 74,179,492 (GRCm39) |
T7P |
probably damaging |
Het |
| Or3a1 |
A |
C |
11: 74,225,462 (GRCm39) |
N198K |
possibly damaging |
Het |
| Or4k38 |
A |
T |
2: 111,166,147 (GRCm39) |
I92N |
probably damaging |
Het |
| Or5al7 |
A |
G |
2: 85,993,194 (GRCm39) |
I33T |
possibly damaging |
Het |
| Pals2 |
T |
C |
6: 50,160,716 (GRCm39) |
Y326H |
probably damaging |
Het |
| Prkdc |
T |
C |
16: 15,585,815 (GRCm39) |
L2451P |
probably damaging |
Het |
| Rad51ap2 |
C |
T |
12: 11,506,252 (GRCm39) |
S58F |
probably damaging |
Het |
| Rbbp8 |
A |
G |
18: 11,875,762 (GRCm39) |
R892G |
probably benign |
Het |
| Rock1 |
A |
G |
18: 10,067,535 (GRCm39) |
S1333P |
probably benign |
Het |
| Rpl7 |
A |
G |
1: 16,172,728 (GRCm39) |
I197T |
probably benign |
Het |
| Sar1a |
C |
A |
10: 61,521,395 (GRCm39) |
Q81K |
probably damaging |
Het |
| Shank1 |
A |
T |
7: 44,006,220 (GRCm39) |
H1979L |
possibly damaging |
Het |
| Slc10a2 |
C |
T |
8: 5,154,889 (GRCm39) |
V99M |
probably damaging |
Het |
| Slc22a30 |
G |
A |
19: 8,313,165 (GRCm39) |
Q436* |
probably null |
Het |
| Spata31e2 |
G |
A |
1: 26,721,466 (GRCm39) |
P1238L |
probably benign |
Het |
| Speer4a2 |
T |
C |
5: 26,294,125 (GRCm39) |
K18E |
probably benign |
Het |
| Szt2 |
C |
T |
4: 118,244,303 (GRCm39) |
R1305H |
probably damaging |
Het |
| Ubash3a |
G |
A |
17: 31,427,186 (GRCm39) |
G32S |
probably damaging |
Het |
| Vmn1r200 |
G |
A |
13: 22,580,060 (GRCm39) |
D279N |
probably damaging |
Het |
| Zbtb8a |
T |
C |
4: 129,248,014 (GRCm39) |
D419G |
possibly 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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GACCCGAATGAAGCCCTACATGAAG -3'
(R):5'- CCCCACTGTCCGCATGTAAATGAG -3'
Sequencing Primer
(F):5'- GCCCTACATGAAGGGATGG -3'
(R):5'- TCCGCATGTAAATGAGACTGG -3'
|
| Posted On |
2014-01-05 |
Incidental Mutation