Incidental Mutation 'R7525:Arhgap10'
| ID |
582925 |
| 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 |
045597-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.165)
|
| Stock # |
R7525 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
77976995-78244582 bp(-) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
A to G
at 78146699 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000075658
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000076316]
[ENSMUST00000210519]
[ENSMUST00000210922]
|
| AlphaFold |
Q6Y5D8 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000076316
|
| SMART Domains |
Protein: ENSMUSP00000075658
Gene: ENSMUSG00000037148
| 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 null
Transcript: ENSMUST00000210519
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000210922
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
100% (63/63) |
| 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: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2900026A02Rik |
T |
C |
5: 113,331,221 (GRCm39) |
T998A |
probably damaging |
Het |
| Aadacl4fm2 |
A |
G |
4: 144,291,580 (GRCm39) |
F42S |
probably damaging |
Het |
| Akap9 |
C |
G |
5: 4,018,745 (GRCm39) |
H1109D |
probably benign |
Het |
| Akt3 |
T |
A |
1: 176,847,673 (GRCm39) |
K465* |
probably null |
Het |
| Ankar |
T |
C |
1: 72,727,800 (GRCm39) |
D371G |
probably benign |
Het |
| Ankib1 |
T |
G |
5: 3,805,734 (GRCm39) |
N178H |
possibly damaging |
Het |
| Arhgef4 |
A |
G |
1: 34,848,785 (GRCm39) |
D286G |
probably damaging |
Het |
| Bsdc1 |
A |
T |
4: 129,355,477 (GRCm39) |
|
probably benign |
Het |
| Camk4 |
T |
C |
18: 33,318,085 (GRCm39) |
V414A |
probably benign |
Het |
| Cyp2d9 |
T |
A |
15: 82,338,293 (GRCm39) |
V139E |
possibly damaging |
Het |
| Dhrs13 |
C |
A |
11: 77,923,260 (GRCm39) |
N21K |
unknown |
Het |
| Dop1a |
C |
T |
9: 86,388,343 (GRCm39) |
A439V |
probably damaging |
Het |
| Dpy19l4 |
G |
A |
4: 11,317,160 (GRCm39) |
Q13* |
probably null |
Het |
| Ecpas |
A |
G |
4: 58,847,038 (GRCm39) |
I508T |
possibly damaging |
Het |
| Eif2ak1 |
T |
C |
5: 143,823,716 (GRCm39) |
S388P |
probably damaging |
Het |
| Emilin2 |
T |
C |
17: 71,581,974 (GRCm39) |
S251G |
probably benign |
Het |
| Eml4 |
T |
A |
17: 83,753,379 (GRCm39) |
L350Q |
probably damaging |
Het |
| Fblim1 |
A |
T |
4: 141,317,391 (GRCm39) |
L98H |
probably damaging |
Het |
| Fcrl6 |
T |
A |
1: 172,425,239 (GRCm39) |
N264I |
probably benign |
Het |
| Gzme |
A |
C |
14: 56,356,790 (GRCm39) |
D57E |
probably benign |
Het |
| H2-D1 |
A |
G |
17: 35,484,909 (GRCm39) |
T257A |
probably damaging |
Het |
| Hectd4 |
C |
A |
5: 121,481,728 (GRCm39) |
D3092E |
possibly damaging |
Het |
| Hrc |
A |
G |
7: 44,985,803 (GRCm39) |
E318G |
probably benign |
Het |
| Hspbp1 |
A |
G |
7: 4,666,435 (GRCm39) |
L315P |
probably damaging |
Het |
| Insr |
A |
T |
8: 3,242,642 (GRCm39) |
Y591N |
probably damaging |
Het |
| Lrch4 |
T |
A |
5: 137,637,727 (GRCm39) |
I582N |
probably damaging |
Het |
| Lrit2 |
A |
G |
14: 36,794,450 (GRCm39) |
K505E |
possibly damaging |
Het |
| Lrp1b |
A |
T |
2: 40,547,428 (GRCm39) |
N4251K |
|
Het |
| Mfsd13a |
T |
C |
19: 46,357,716 (GRCm39) |
F290S |
probably damaging |
Het |
| Mgam |
T |
G |
6: 40,742,954 (GRCm39) |
N1791K |
probably benign |
Het |
| Mroh7 |
A |
T |
4: 106,566,899 (GRCm39) |
I450N |
probably benign |
Het |
| Mylk |
G |
A |
16: 34,809,357 (GRCm39) |
M1771I |
probably benign |
Het |
| Or10ak12 |
A |
T |
4: 118,666,691 (GRCm39) |
F123L |
probably damaging |
Het |
| Or51aa2 |
A |
T |
7: 103,188,338 (GRCm39) |
C34* |
probably null |
Het |
| Or8d1 |
A |
T |
9: 38,766,534 (GRCm39) |
M59L |
possibly damaging |
Het |
| Or8g55 |
T |
A |
9: 39,785,435 (GRCm39) |
L288* |
probably null |
Het |
| Parp14 |
A |
T |
16: 35,677,861 (GRCm39) |
H702Q |
probably benign |
Het |
| Pcdhga1 |
T |
C |
18: 37,795,281 (GRCm39) |
L95P |
probably damaging |
Het |
| Pcsk5 |
T |
C |
19: 17,619,954 (GRCm39) |
T373A |
probably damaging |
Het |
| Pdzph1 |
A |
G |
17: 59,274,336 (GRCm39) |
V836A |
possibly damaging |
Het |
| Pgap1 |
T |
A |
1: 54,570,081 (GRCm39) |
N322I |
probably benign |
Het |
| Pikfyve |
C |
T |
1: 65,283,585 (GRCm39) |
R741* |
probably null |
Het |
| Pip4k2c |
A |
G |
10: 127,044,773 (GRCm39) |
S80P |
probably damaging |
Het |
| Plekhh3 |
A |
G |
11: 101,057,445 (GRCm39) |
F271L |
probably damaging |
Het |
| Prkdc |
A |
T |
16: 15,490,191 (GRCm39) |
Y565F |
probably damaging |
Het |
| Prom2 |
T |
C |
2: 127,374,701 (GRCm39) |
R612G |
probably benign |
Het |
| Psap |
T |
C |
10: 60,135,253 (GRCm39) |
V303A |
probably benign |
Het |
| Ptch1 |
C |
T |
13: 63,659,528 (GRCm39) |
R1375H |
probably benign |
Het |
| Slc24a3 |
A |
C |
2: 145,455,450 (GRCm39) |
K446N |
probably benign |
Het |
| Slc39a12 |
T |
A |
2: 14,499,272 (GRCm39) |
M661K |
probably benign |
Het |
| Slc6a16 |
T |
C |
7: 44,908,537 (GRCm39) |
L39P |
probably benign |
Het |
| Syne1 |
T |
G |
10: 5,135,559 (GRCm39) |
|
probably null |
Het |
| Taar8c |
T |
C |
10: 23,977,764 (GRCm39) |
N16S |
probably benign |
Het |
| Tmem98 |
A |
G |
11: 80,708,344 (GRCm39) |
T105A |
probably damaging |
Het |
| Tmub1 |
T |
A |
5: 24,651,011 (GRCm39) |
Y216F |
probably damaging |
Het |
| Trim16 |
T |
G |
11: 62,711,580 (GRCm39) |
C84G |
probably damaging |
Het |
| Ttn |
T |
A |
2: 76,561,573 (GRCm39) |
K28978* |
probably null |
Het |
| Usp38 |
A |
G |
8: 81,740,875 (GRCm39) |
V64A |
probably damaging |
Het |
| Vmn2r63 |
A |
T |
7: 42,576,406 (GRCm39) |
F469Y |
possibly damaging |
Het |
| Vmn2r74 |
A |
G |
7: 85,610,510 (GRCm39) |
W61R |
probably benign |
Het |
| Whamm |
G |
T |
7: 81,243,598 (GRCm39) |
G607C |
probably damaging |
Het |
| Xkr6 |
G |
T |
14: 64,056,610 (GRCm39) |
V430F |
probably benign |
Het |
| Zfp398 |
A |
G |
6: 47,842,752 (GRCm39) |
D268G |
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 |
|
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'- TGGAGCCTCATCAGCTTCAG -3'
(R):5'- TTCAGGACGTGACAGACAGG -3'
Sequencing Primer
(F):5'- GAGCCATGTGTTACACCAAAGTTGAC -3'
(R):5'- TCCGGATGGCAGTGCTCTG -3'
|
| Posted On |
2019-10-17 |
Incidental Mutation