Incidental Mutation 'R6694:Arhgap10'
| ID |
528502 |
| 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 |
044812-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.165)
|
| Stock # |
R6694 (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 G
at 78137692 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 300
(F300L)
|
| 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: F300L
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000075658
Gene: ENSMUSG00000037148
AA Change: F300L
| 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: F300L
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000210922
AA Change: F300L
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.5%
- 20x: 95.7%
|
| Validation Efficiency |
95% (41/43) |
| 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: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aoc1l2 |
G |
A |
6: 48,907,480 (GRCm39) |
S160N |
probably benign |
Het |
| Arap3 |
A |
C |
18: 38,124,590 (GRCm39) |
|
probably null |
Het |
| Ccdc116 |
T |
C |
16: 16,960,655 (GRCm39) |
E54G |
probably benign |
Het |
| Cd53 |
T |
A |
3: 106,674,702 (GRCm39) |
I122F |
probably benign |
Het |
| Ctnnd1 |
T |
C |
2: 84,454,849 (GRCm39) |
|
probably benign |
Het |
| Ddx60 |
A |
G |
8: 62,490,104 (GRCm39) |
D1691G |
probably damaging |
Het |
| Dnah11 |
T |
C |
12: 118,150,617 (GRCm39) |
|
probably null |
Het |
| Exoc1 |
T |
A |
5: 76,697,399 (GRCm39) |
M392K |
probably damaging |
Het |
| Exoc3l |
G |
C |
8: 106,017,122 (GRCm39) |
R622G |
probably benign |
Het |
| Grid2 |
C |
G |
6: 63,908,031 (GRCm39) |
R224G |
possibly damaging |
Het |
| Kif20a |
A |
G |
18: 34,758,579 (GRCm39) |
E16G |
probably damaging |
Het |
| Kit |
T |
C |
5: 75,801,417 (GRCm39) |
V568A |
possibly damaging |
Het |
| Lhx4 |
T |
C |
1: 155,580,456 (GRCm39) |
S257G |
probably benign |
Het |
| Med18 |
C |
T |
4: 132,187,293 (GRCm39) |
V114I |
probably benign |
Het |
| Mrps30 |
C |
T |
13: 118,523,497 (GRCm39) |
V92M |
possibly damaging |
Het |
| Mtrr |
C |
T |
13: 68,712,452 (GRCm39) |
V645I |
probably benign |
Het |
| Nuak2 |
T |
G |
1: 132,260,048 (GRCm39) |
S609A |
probably damaging |
Het |
| Or2y1g |
A |
T |
11: 49,171,379 (GRCm39) |
I135F |
probably benign |
Het |
| Plk4 |
T |
C |
3: 40,756,263 (GRCm39) |
V58A |
probably damaging |
Het |
| Polq |
T |
A |
16: 36,835,535 (GRCm39) |
F145L |
probably null |
Het |
| Rab11fip2 |
T |
C |
19: 59,925,707 (GRCm39) |
K170R |
probably damaging |
Het |
| Rapgef3 |
A |
G |
15: 97,657,865 (GRCm39) |
V246A |
probably benign |
Het |
| Rc3h2 |
A |
G |
2: 37,290,555 (GRCm39) |
S316P |
probably damaging |
Het |
| Rsf1 |
ATGGCG |
ATGGCGACGGTGGCG |
7: 97,229,111 (GRCm39) |
|
probably benign |
Homo |
| Rsf1 |
GCGGCGGC |
GCGGCGGCGACGGCGGC |
7: 97,229,135 (GRCm39) |
|
probably benign |
Het |
| Sae1 |
G |
T |
7: 16,102,461 (GRCm39) |
A171E |
probably damaging |
Het |
| Semp2l2b |
T |
C |
10: 21,943,620 (GRCm39) |
E120G |
probably damaging |
Het |
| Setd5 |
T |
A |
6: 113,120,669 (GRCm39) |
N959K |
probably benign |
Het |
| Siae |
T |
A |
9: 37,528,119 (GRCm39) |
Y31N |
probably damaging |
Het |
| Sit1 |
C |
T |
4: 43,483,311 (GRCm39) |
G51D |
probably damaging |
Het |
| Slc5a11 |
A |
G |
7: 122,867,012 (GRCm39) |
I436V |
possibly damaging |
Het |
| Tcfl5 |
A |
G |
2: 180,264,447 (GRCm39) |
S470P |
probably damaging |
Het |
| Timd2 |
A |
T |
11: 46,561,779 (GRCm39) |
C288* |
probably null |
Het |
| Timeless |
T |
G |
10: 128,075,868 (GRCm39) |
|
probably null |
Het |
| Ubxn8 |
G |
T |
8: 34,111,572 (GRCm39) |
Q274K |
possibly damaging |
Het |
| Usp29 |
A |
G |
7: 6,965,276 (GRCm39) |
E373G |
probably benign |
Het |
| Zap70 |
A |
G |
1: 36,821,598 (GRCm39) |
Y597C |
probably damaging |
Het |
| Zfp523 |
T |
G |
17: 28,419,446 (GRCm39) |
Y195D |
probably damaging |
Het |
| Zfp74 |
G |
A |
7: 29,634,559 (GRCm39) |
A383V |
probably damaging |
Het |
| Zfp93 |
A |
T |
7: 23,975,338 (GRCm39) |
Q441L |
probably damaging |
Het |
| Zfp976 |
A |
T |
7: 42,263,610 (GRCm39) |
Y76N |
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 |
|
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'- TCTTCTAAAACAGTGACCAGTCTTTA -3'
(R):5'- GAGCCCCTGCCCCTCTATG -3'
Sequencing Primer
(F):5'- TCTAACTGTGAAGACTGAGGAGTGTG -3'
(R):5'- TATGCTTTCCCTGGCTGAGCAG -3'
|
| Posted On |
2018-07-24 |
Incidental Mutation