Incidental Mutation 'R8081:Arhgap10'
| ID |
629348 |
| 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 |
067514-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.165)
|
| Stock # |
R8081 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
77976995-78244582 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 78109375 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 403
(I403V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000075658
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000076316]
[ENSMUST00000210519]
[ENSMUST00000210922]
|
| AlphaFold |
Q6Y5D8 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000076316
AA Change: I403V
PolyPhen 2
Score 0.678 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000075658
Gene: ENSMUSG00000037148
AA Change: I403V
| 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
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000210922
AA Change: I403V
PolyPhen 2
Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.9%
- 20x: 95.7%
|
| 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: 67 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700003E16Rik |
A |
T |
6: 83,138,313 (GRCm39) |
E119V |
probably damaging |
Het |
| Adamts2 |
A |
T |
11: 50,668,004 (GRCm39) |
D522V |
probably damaging |
Het |
| Agtpbp1 |
A |
T |
13: 59,676,221 (GRCm39) |
L183* |
probably null |
Het |
| Arhgef11 |
T |
C |
3: 87,632,949 (GRCm39) |
S687P |
probably damaging |
Het |
| Cdhr1 |
C |
T |
14: 36,815,967 (GRCm39) |
V144I |
probably benign |
Het |
| Cdk20 |
A |
G |
13: 64,586,766 (GRCm39) |
I339V |
probably benign |
Het |
| Ceacam13 |
A |
G |
7: 17,747,113 (GRCm39) |
K189E |
probably damaging |
Het |
| Cep290 |
C |
T |
10: 100,394,038 (GRCm39) |
Q2082* |
probably null |
Het |
| Cgrrf1 |
A |
G |
14: 47,091,468 (GRCm39) |
T331A |
probably benign |
Het |
| Cntn4 |
G |
A |
6: 106,651,568 (GRCm39) |
V706I |
possibly damaging |
Het |
| Csrnp2 |
T |
C |
15: 100,387,462 (GRCm39) |
D2G |
probably damaging |
Het |
| Cux2 |
A |
G |
5: 122,007,519 (GRCm39) |
I714T |
probably benign |
Het |
| Cx3cr1 |
C |
T |
9: 119,880,878 (GRCm39) |
E175K |
possibly damaging |
Het |
| Dennd1c |
G |
A |
17: 57,381,139 (GRCm39) |
P163L |
possibly damaging |
Het |
| Dhtkd1 |
C |
T |
2: 5,928,919 (GRCm39) |
E251K |
probably damaging |
Het |
| Epas1 |
C |
T |
17: 87,136,797 (GRCm39) |
P787S |
probably benign |
Het |
| Epha2 |
T |
C |
4: 141,049,605 (GRCm39) |
V737A |
probably damaging |
Het |
| Fam50b |
G |
A |
13: 34,931,084 (GRCm39) |
E187K |
possibly damaging |
Het |
| Fcsk |
T |
A |
8: 111,615,783 (GRCm39) |
R515S |
probably benign |
Het |
| Fscb |
A |
T |
12: 64,518,802 (GRCm39) |
M888K |
unknown |
Het |
| Gldc |
ACGACC |
AC |
19: 30,135,987 (GRCm39) |
|
probably null |
Het |
| Gm14443 |
A |
T |
2: 175,012,238 (GRCm39) |
C69* |
probably null |
Het |
| Gm19668 |
G |
A |
10: 77,634,420 (GRCm39) |
A183V |
unknown |
Het |
| Gm49368 |
A |
G |
7: 127,726,280 (GRCm39) |
R1231G |
unknown |
Het |
| Grin2c |
T |
C |
11: 115,140,719 (GRCm39) |
Y1133C |
probably damaging |
Het |
| H3c13 |
C |
A |
3: 96,176,309 (GRCm39) |
Y100* |
probably null |
Het |
| Hydin |
T |
C |
8: 111,092,101 (GRCm39) |
S425P |
possibly damaging |
Het |
| Ifnl3 |
T |
C |
7: 28,223,682 (GRCm39) |
S173P |
probably damaging |
Het |
| Igkv4-63 |
A |
T |
6: 69,355,018 (GRCm39) |
S88T |
possibly damaging |
Het |
| Klhl5 |
C |
A |
5: 65,320,268 (GRCm39) |
N607K |
possibly damaging |
Het |
| Lag3 |
A |
T |
6: 124,882,410 (GRCm39) |
L362* |
probably null |
Het |
| Lats2 |
C |
A |
14: 57,937,968 (GRCm39) |
G174C |
probably damaging |
Het |
| Mcm6 |
T |
C |
1: 128,265,905 (GRCm39) |
E622G |
probably damaging |
Het |
| Med13l |
C |
A |
5: 118,866,333 (GRCm39) |
H462Q |
probably damaging |
Het |
| Mrpl53 |
T |
A |
6: 83,086,159 (GRCm39) |
F23I |
probably damaging |
Het |
| Muc5b |
T |
G |
7: 141,417,743 (GRCm39) |
I3563S |
possibly damaging |
Het |
| Myo16 |
A |
C |
8: 10,372,743 (GRCm39) |
L147F |
unknown |
Het |
| Npc1l1 |
G |
C |
11: 6,167,768 (GRCm39) |
Q1008E |
probably benign |
Het |
| Npy4r |
A |
G |
14: 33,868,524 (GRCm39) |
S255P |
probably damaging |
Het |
| Nup210 |
T |
C |
6: 91,053,657 (GRCm39) |
N287D |
probably benign |
Het |
| Opn3 |
T |
A |
1: 175,493,135 (GRCm39) |
H143L |
probably damaging |
Het |
| Or12e7 |
G |
T |
2: 87,287,513 (GRCm39) |
M1I |
probably null |
Het |
| Or12j3 |
A |
T |
7: 139,952,972 (GRCm39) |
L184M |
probably damaging |
Het |
| Or12j5 |
A |
T |
7: 140,084,369 (GRCm39) |
M1K |
probably null |
Het |
| Or4k2 |
T |
A |
14: 50,423,825 (GRCm39) |
N284I |
probably damaging |
Het |
| Or5ap2b-ps1 |
C |
T |
2: 85,693,839 (GRCm39) |
P28L |
probably damaging |
Het |
| Pdcd7 |
C |
T |
9: 65,253,967 (GRCm39) |
R182C |
probably damaging |
Het |
| Peg10 |
GC |
GCTCC |
6: 4,756,452 (GRCm39) |
|
probably benign |
Het |
| Picalm |
T |
A |
7: 89,840,451 (GRCm39) |
L540* |
probably null |
Het |
| Ppp1r21 |
T |
A |
17: 88,866,272 (GRCm39) |
I356N |
probably damaging |
Het |
| Rgs6 |
C |
T |
12: 83,094,347 (GRCm39) |
Q67* |
probably null |
Het |
| Ripor2 |
C |
A |
13: 24,897,683 (GRCm39) |
Q794K |
probably benign |
Het |
| Rnf216 |
A |
T |
5: 143,013,719 (GRCm39) |
I702N |
probably damaging |
Het |
| Robo4 |
T |
C |
9: 37,316,936 (GRCm39) |
L417P |
probably damaging |
Het |
| Samhd1 |
A |
T |
2: 156,943,358 (GRCm39) |
C605* |
probably null |
Het |
| Scaper |
C |
T |
9: 55,823,330 (GRCm39) |
G22D |
unknown |
Het |
| Senp5 |
T |
C |
16: 31,784,577 (GRCm39) |
T692A |
probably damaging |
Het |
| Six6 |
G |
T |
12: 72,986,875 (GRCm39) |
G16W |
probably damaging |
Het |
| Slc38a8 |
A |
T |
8: 120,212,269 (GRCm39) |
M358K |
possibly damaging |
Het |
| Snx2 |
T |
C |
18: 53,349,459 (GRCm39) |
F407L |
probably benign |
Het |
| Srrm2 |
T |
A |
17: 24,039,219 (GRCm39) |
N1954K |
probably damaging |
Het |
| Syk |
A |
T |
13: 52,792,195 (GRCm39) |
M429L |
probably benign |
Het |
| Tln2 |
T |
A |
9: 67,264,029 (GRCm39) |
N537Y |
probably damaging |
Het |
| Usp29 |
T |
A |
7: 6,966,629 (GRCm39) |
M824K |
probably benign |
Het |
| Utrn |
A |
G |
10: 12,423,803 (GRCm39) |
|
probably benign |
Het |
| Wdr37 |
C |
T |
13: 8,885,406 (GRCm39) |
D346N |
probably damaging |
Het |
| Zfpm2 |
T |
A |
15: 40,965,644 (GRCm39) |
C710S |
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 |
|
|
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 |
|
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'- TACTGCAGTGAAGTTTTCCCAC -3'
(R):5'- GTTACACGGCAAAGATGTGG -3'
Sequencing Primer
(F):5'- CACATTTACATGGAAAGCGTCG -3'
(R):5'- TACACGGCAAAGATGTGGCTTTC -3'
|
| Posted On |
2020-06-30 |
Incidental Mutation