Incidental Mutation 'R7150:Arhgap10'
ID |
554062 |
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 |
045252-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.165)
|
Stock # |
R7150 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
8 |
Chromosomal Location |
77976995-78244582 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 77977583 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glycine to Arginine
at position 776
(G776R)
|
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: G776R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000075658 Gene: ENSMUSG00000037148 AA Change: G776R
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: G754R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000210922
AA Change: G725R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
Meta Mutation Damage Score |
0.9156 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.2%
|
Validation Efficiency |
98% (59/60) |
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: 60 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2810004N23Rik |
T |
C |
8: 125,589,653 (GRCm39) |
D20G |
possibly damaging |
Het |
5430401F13Rik |
T |
C |
6: 131,529,630 (GRCm39) |
S75P |
probably benign |
Het |
Acad8 |
A |
T |
9: 26,889,750 (GRCm39) |
F315I |
probably damaging |
Het |
Adcy5 |
A |
G |
16: 35,118,904 (GRCm39) |
Y1085C |
probably damaging |
Het |
Aldh1a7 |
T |
C |
19: 20,693,382 (GRCm39) |
K179R |
probably damaging |
Het |
Arhgap35 |
A |
C |
7: 16,296,491 (GRCm39) |
F858C |
probably damaging |
Het |
Ash1l |
C |
T |
3: 88,984,381 (GRCm39) |
R2957W |
probably damaging |
Het |
Atp6ap1l |
G |
T |
13: 91,031,848 (GRCm39) |
A278E |
probably damaging |
Het |
Btn1a1 |
A |
T |
13: 23,643,521 (GRCm39) |
D309E |
probably damaging |
Het |
Casd1 |
C |
T |
6: 4,624,211 (GRCm39) |
R335C |
probably benign |
Het |
Ceacam3 |
A |
G |
7: 16,885,487 (GRCm39) |
Q30R |
|
Het |
Cfap20 |
C |
T |
8: 96,148,795 (GRCm39) |
C119Y |
probably damaging |
Het |
Cntrl |
A |
T |
2: 35,055,457 (GRCm39) |
|
probably null |
Het |
Crot |
A |
G |
5: 9,037,878 (GRCm39) |
V146A |
probably damaging |
Het |
Cx3cl1 |
A |
G |
8: 95,506,591 (GRCm39) |
S199G |
probably damaging |
Het |
Ddhd1 |
A |
T |
14: 45,895,263 (GRCm39) |
L69Q |
probably damaging |
Het |
Dnah12 |
T |
C |
14: 26,583,689 (GRCm39) |
F3195L |
probably damaging |
Het |
Dpy19l3 |
A |
T |
7: 35,408,055 (GRCm39) |
D450E |
probably benign |
Het |
Ercc3 |
A |
T |
18: 32,390,325 (GRCm39) |
N538I |
probably damaging |
Het |
Fzd1 |
A |
T |
5: 4,806,145 (GRCm39) |
V479E |
probably benign |
Het |
Gart |
T |
C |
16: 91,425,351 (GRCm39) |
Y638C |
possibly damaging |
Het |
Gm2381 |
C |
A |
7: 42,469,888 (GRCm39) |
V79L |
probably benign |
Het |
Gucy1b1 |
T |
C |
3: 81,950,469 (GRCm39) |
Y312C |
probably damaging |
Het |
Hecw1 |
T |
A |
13: 14,609,045 (GRCm39) |
M1L |
probably benign |
Het |
Ip6k2 |
A |
G |
9: 108,673,930 (GRCm39) |
I99V |
unknown |
Het |
Itgb5 |
C |
T |
16: 33,761,013 (GRCm39) |
T616I |
probably benign |
Het |
Kmt2c |
A |
C |
5: 25,505,360 (GRCm39) |
V3316G |
possibly damaging |
Het |
Lama3 |
C |
T |
18: 12,601,346 (GRCm39) |
R1008C |
probably damaging |
Het |
Lin54 |
T |
C |
5: 100,633,159 (GRCm39) |
D175G |
possibly damaging |
Het |
Lrp2 |
A |
G |
2: 69,318,395 (GRCm39) |
S2019P |
probably damaging |
Het |
Lrrc9 |
A |
G |
12: 72,513,726 (GRCm39) |
E528G |
probably benign |
Het |
Lyz3 |
T |
C |
10: 117,073,647 (GRCm39) |
N62S |
probably benign |
Het |
Mto1 |
A |
G |
9: 78,364,565 (GRCm39) |
H299R |
probably damaging |
Het |
Myo19 |
G |
A |
11: 84,796,439 (GRCm39) |
G684R |
probably benign |
Het |
Or14c45 |
A |
C |
7: 86,176,322 (GRCm39) |
D119A |
probably damaging |
Het |
Or7g32 |
A |
T |
9: 19,408,145 (GRCm39) |
M34L |
probably benign |
Het |
Pcdh18 |
C |
A |
3: 49,709,143 (GRCm39) |
C724F |
probably benign |
Het |
Pcdha3 |
A |
T |
18: 37,080,165 (GRCm39) |
K302N |
probably benign |
Het |
Pcdhgb2 |
T |
C |
18: 37,825,300 (GRCm39) |
F764L |
possibly damaging |
Het |
Pik3cb |
C |
A |
9: 98,975,143 (GRCm39) |
G246W |
probably damaging |
Het |
Polr2m |
A |
T |
9: 71,390,626 (GRCm39) |
I192N |
probably damaging |
Het |
Polr2m |
G |
T |
9: 71,390,815 (GRCm39) |
T129K |
probably benign |
Het |
Pramel48 |
A |
G |
5: 95,630,680 (GRCm39) |
I186V |
possibly damaging |
Het |
Ptpn4 |
C |
T |
1: 119,619,475 (GRCm39) |
|
probably null |
Het |
Scgb1b19 |
A |
T |
7: 32,986,940 (GRCm39) |
K30N |
possibly damaging |
Het |
Shpk |
A |
G |
11: 73,104,315 (GRCm39) |
T155A |
probably damaging |
Het |
Slit3 |
T |
C |
11: 35,461,546 (GRCm39) |
Y261H |
probably damaging |
Het |
Sox13 |
A |
G |
1: 133,313,243 (GRCm39) |
F438L |
possibly damaging |
Het |
Sphk1 |
A |
T |
11: 116,425,907 (GRCm39) |
E61D |
probably benign |
Het |
St18 |
A |
G |
1: 6,873,243 (GRCm39) |
D326G |
probably damaging |
Het |
Syde1 |
G |
A |
10: 78,422,032 (GRCm39) |
Q566* |
probably null |
Het |
Tacc2 |
A |
G |
7: 130,330,807 (GRCm39) |
T254A |
probably benign |
Het |
Tbc1d1 |
A |
G |
5: 64,330,827 (GRCm39) |
E2G |
probably damaging |
Het |
Trim5 |
A |
T |
7: 103,926,017 (GRCm39) |
N181K |
probably damaging |
Het |
Trpc7 |
A |
T |
13: 56,931,509 (GRCm39) |
I730K |
probably benign |
Het |
Uqcrc1 |
T |
A |
9: 108,776,926 (GRCm39) |
M377K |
probably benign |
Het |
Vmn2r4 |
T |
C |
3: 64,305,898 (GRCm39) |
N508S |
probably benign |
Het |
Vmp1 |
A |
T |
11: 86,477,402 (GRCm39) |
S333T |
probably benign |
Het |
Vps50 |
T |
A |
6: 3,578,854 (GRCm39) |
M639K |
possibly damaging |
Het |
Zfp874b |
A |
T |
13: 67,622,622 (GRCm39) |
C225* |
probably null |
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 |
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'- ATCTGCACAGTCCTAGGTGG -3'
(R):5'- TTTTGAGGGCCAGAACTAGACAG -3'
Sequencing Primer
(F):5'- CACAGTCCTAGGTGGCTGTTC -3'
(R):5'- CTAGACAGAACCTTTGTGGCAGC -3'
|
Posted On |
2019-05-15 |