Incidental Mutation 'R8051:Arhgap10'
| ID |
619057 |
| 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 |
067488-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.165)
|
| Stock # |
R8051 (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 78244309 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Serine
at position 35
(F35S)
|
| 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: F35S
PolyPhen 2
Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000075658
Gene: ENSMUSG00000037148
AA Change: F35S
| 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: F35S
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000210922
AA Change: F35S
PolyPhen 2
Score 0.663 (Sensitivity: 0.86; Specificity: 0.91)
|
| Meta Mutation Damage Score |
0.0950 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
| Validation Efficiency |
100% (49/49) |
| 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: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acan |
T |
A |
7: 78,750,527 (GRCm39) |
L1766Q |
probably damaging |
Het |
| Adgrl3 |
A |
G |
5: 81,613,113 (GRCm39) |
Y114C |
probably damaging |
Het |
| Ano9 |
T |
A |
7: 140,684,445 (GRCm39) |
I472F |
probably damaging |
Het |
| Bltp2 |
G |
A |
11: 78,164,238 (GRCm39) |
|
probably benign |
Het |
| Btnl2 |
T |
A |
17: 34,582,473 (GRCm39) |
D346E |
probably damaging |
Het |
| C4bp |
A |
T |
1: 130,583,705 (GRCm39) |
C88S |
probably damaging |
Het |
| Cavin2 |
A |
T |
1: 51,340,283 (GRCm39) |
Q320L |
probably benign |
Het |
| Chtf18 |
C |
A |
17: 25,942,453 (GRCm39) |
V462L |
probably benign |
Het |
| Crisp3 |
A |
T |
17: 40,543,451 (GRCm39) |
S134R |
probably benign |
Het |
| Dlg4 |
C |
A |
11: 69,922,468 (GRCm39) |
|
probably benign |
Het |
| Dsc3 |
A |
T |
18: 20,114,270 (GRCm39) |
M328K |
probably damaging |
Het |
| Efemp2 |
T |
A |
19: 5,526,095 (GRCm39) |
D73E |
probably damaging |
Het |
| Fbn1 |
C |
T |
2: 125,148,383 (GRCm39) |
A2622T |
possibly damaging |
Het |
| Flt1 |
T |
C |
5: 147,519,501 (GRCm39) |
H938R |
probably benign |
Het |
| Flt3 |
T |
G |
5: 147,295,765 (GRCm39) |
|
probably benign |
Het |
| Fnbp4 |
T |
C |
2: 90,608,083 (GRCm39) |
V935A |
possibly damaging |
Het |
| Frem2 |
T |
C |
3: 53,442,776 (GRCm39) |
N2587S |
probably benign |
Het |
| Gabbr2 |
C |
T |
4: 46,736,349 (GRCm39) |
|
probably null |
Het |
| Gm36864 |
A |
T |
7: 43,891,976 (GRCm39) |
I385F |
probably benign |
Het |
| Il17re |
G |
T |
6: 113,436,328 (GRCm39) |
R47L |
probably benign |
Het |
| Il27ra |
A |
G |
8: 84,760,578 (GRCm39) |
|
probably null |
Het |
| Irf4 |
A |
G |
13: 30,945,456 (GRCm39) |
I401V |
probably damaging |
Het |
| Kat6a |
T |
C |
8: 23,400,265 (GRCm39) |
L342S |
probably damaging |
Het |
| Klc1 |
T |
A |
12: 111,748,384 (GRCm39) |
C390S |
possibly damaging |
Het |
| Klhl22 |
A |
T |
16: 17,610,443 (GRCm39) |
I565F |
probably damaging |
Het |
| Krt26 |
A |
T |
11: 99,228,672 (GRCm39) |
L20Q |
probably damaging |
Het |
| Lamb3 |
T |
C |
1: 193,012,375 (GRCm39) |
V384A |
possibly damaging |
Het |
| Lmo2 |
T |
A |
2: 103,801,045 (GRCm39) |
L80Q |
possibly damaging |
Het |
| Lrrc37a |
T |
G |
11: 103,393,952 (GRCm39) |
E491A |
possibly damaging |
Het |
| Ninj1 |
T |
A |
13: 49,347,288 (GRCm39) |
M51K |
probably damaging |
Het |
| Or11g26 |
C |
A |
14: 50,753,100 (GRCm39) |
N146K |
probably benign |
Het |
| Or12d17 |
G |
A |
17: 37,777,213 (GRCm39) |
G39R |
probably damaging |
Het |
| Plppr3 |
T |
A |
10: 79,702,838 (GRCm39) |
T142S |
probably damaging |
Het |
| Rab2b |
T |
C |
14: 52,506,153 (GRCm39) |
D103G |
probably damaging |
Het |
| Rap1gap2 |
G |
T |
11: 74,286,651 (GRCm39) |
R550S |
probably damaging |
Het |
| Rbm33 |
A |
G |
5: 28,557,623 (GRCm39) |
N279D |
probably damaging |
Het |
| Rhox9 |
C |
T |
X: 36,990,253 (GRCm39) |
G40R |
probably benign |
Het |
| Selplg |
G |
A |
5: 113,957,502 (GRCm39) |
T268I |
probably damaging |
Het |
| Slc20a1 |
T |
C |
2: 129,050,120 (GRCm39) |
M426T |
possibly damaging |
Het |
| Spata18 |
A |
T |
5: 73,827,063 (GRCm39) |
Y220F |
|
Het |
| Spns1 |
T |
C |
7: 125,971,708 (GRCm39) |
T281A |
probably benign |
Het |
| Sptan1 |
C |
T |
2: 29,920,171 (GRCm39) |
R2288C |
probably damaging |
Het |
| Tacstd2 |
T |
C |
6: 67,512,383 (GRCm39) |
D103G |
probably damaging |
Het |
| Tmem121 |
C |
T |
12: 113,152,487 (GRCm39) |
A235V |
probably benign |
Het |
| Try4 |
A |
G |
6: 41,281,996 (GRCm39) |
D194G |
probably damaging |
Het |
| Tyrp1 |
C |
A |
4: 80,755,897 (GRCm39) |
T222K |
probably damaging |
Het |
| Zfp57 |
T |
A |
17: 37,320,785 (GRCm39) |
V213D |
probably damaging |
Het |
| Zfy2 |
A |
T |
Y: 2,117,380 (GRCm39) |
|
probably benign |
Het |
| Zkscan4 |
G |
A |
13: 21,668,823 (GRCm39) |
G454R |
not run |
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 |
|
|
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'- GAATCGCCTATTCCTCCAGC -3'
(R):5'- CAGACTACGTTCTCCATCGC -3'
Sequencing Primer
(F):5'- CCCGGTCTTAGGAGCACTGAG -3'
(R):5'- TGGACATGACCGTGCTGC -3'
|
| Posted On |
2020-01-23 |
Incidental Mutation