Incidental Mutation 'R9113:Arhgap10'
ID |
692360 |
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 |
068920-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.160)
|
Stock # |
R9113 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
8 |
Chromosomal Location |
77976995-78244582 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 77985701 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 722
(D722G)
|
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: D722G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000075658 Gene: ENSMUSG00000037148 AA Change: D722G
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: D700G
PolyPhen 2
Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000210922
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.9%
- 20x: 99.6%
|
Validation Efficiency |
100% (50/50) |
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: 51 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcc9 |
T |
A |
6: 142,591,656 (GRCm39) |
I791F |
probably damaging |
Het |
Adamts15 |
A |
G |
9: 30,822,498 (GRCm39) |
M389T |
probably damaging |
Het |
Adgrb2 |
G |
A |
4: 129,910,877 (GRCm39) |
V1065M |
probably damaging |
Het |
Agbl1 |
C |
A |
7: 76,239,225 (GRCm39) |
A827E |
unknown |
Het |
Alox5ap |
T |
C |
5: 149,216,015 (GRCm39) |
F67S |
probably damaging |
Het |
Ankrd11 |
T |
C |
8: 123,614,072 (GRCm39) |
N2566S |
possibly damaging |
Het |
Atp5mf |
A |
G |
5: 145,128,315 (GRCm39) |
L4P |
probably benign |
Het |
Bean1 |
T |
C |
8: 104,940,557 (GRCm39) |
V130A |
probably benign |
Het |
Ccdc88b |
T |
C |
19: 6,833,213 (GRCm39) |
E278G |
probably damaging |
Het |
Cdhr2 |
A |
G |
13: 54,882,700 (GRCm39) |
D1222G |
probably benign |
Het |
Chrm4 |
T |
A |
2: 91,758,075 (GRCm39) |
V161E |
probably benign |
Het |
Ckap5 |
T |
C |
2: 91,426,144 (GRCm39) |
S1335P |
probably damaging |
Het |
Col11a1 |
T |
A |
3: 113,888,192 (GRCm39) |
Y267* |
probably null |
Het |
Col14a1 |
T |
C |
15: 55,201,825 (GRCm39) |
Y38H |
unknown |
Het |
Coro2a |
C |
T |
4: 46,563,047 (GRCm39) |
G36S |
|
Het |
Ctsc |
A |
T |
7: 87,959,104 (GRCm39) |
K461N |
possibly damaging |
Het |
Dcaf1 |
A |
G |
9: 106,712,831 (GRCm39) |
|
probably benign |
Het |
Dnah9 |
A |
G |
11: 65,880,713 (GRCm39) |
I2628T |
probably damaging |
Het |
Dnajb5 |
T |
C |
4: 42,953,233 (GRCm39) |
I20T |
probably damaging |
Het |
Dus2 |
C |
T |
8: 106,775,333 (GRCm39) |
Q287* |
probably null |
Het |
Fbxl17 |
A |
G |
17: 63,532,085 (GRCm39) |
V586A |
probably benign |
Het |
Glg1 |
A |
T |
8: 111,887,452 (GRCm39) |
|
probably benign |
Het |
Gm4924 |
G |
A |
10: 82,214,113 (GRCm39) |
C637Y |
unknown |
Het |
Gorasp1 |
A |
G |
9: 119,757,442 (GRCm39) |
F310S |
probably damaging |
Het |
Gsta5 |
A |
T |
9: 78,212,667 (GRCm39) |
I213F |
probably benign |
Het |
Igfn1 |
G |
A |
1: 135,883,328 (GRCm39) |
T2726I |
probably damaging |
Het |
Inppl1 |
G |
T |
7: 101,475,231 (GRCm39) |
P940Q |
probably benign |
Het |
Klk1b22 |
G |
A |
7: 43,765,692 (GRCm39) |
V183M |
possibly damaging |
Het |
Krt12 |
A |
G |
11: 99,309,378 (GRCm39) |
M294T |
probably damaging |
Het |
Krtap6-2 |
GAGCCATAGCCAGAGCCATATCCACAGCCATAGCCAGAGCCATATCCACAGCCATAGCCAGAGCCATATCCACAGCCATAGCCAGAGCCATATCCACAGCCATAGCCAGAGCCATATCCACAGCCATAGCCAGAGCCATATCCACAGCCATAGCCAGAGCCGTATCCACAGCCATAGCCAGAGCCATATCCACAGCCATAGCCAGAGCCAGAGCCACAGCCATAGCCAGAACCATAGCCACAGCCATAGCCAGAGCCATAGCCACAGCCATAGCCAGAGCCAGAGCCACAGCCATAGCCAGAGCCATAGCCACAGCCATAGCCA |
GAGCCATAGCCAGAGCCATATCCACAGCCATAGCCAGAGCCATATCCACAGCCATAGCCAGAGCCATATCCACAGCCATAGCCAGAGCCATATCCACAGCCATAGCCAGAGCCATATCCACAGCCATAGCCAGAGCCGTATCCACAGCCATAGCCAGAGCCATATCCACAGCCATAGCCAGAGCCAGAGCCACAGCCATAGCCAGAACCATAGCCACAGCCATAGCCAGAGCCATAGCCACAGCCATAGCCAGAGCCAGAGCCACAGCCATAGCCAGAGCCATAGCCACAGCCATAGCCA |
16: 89,216,613 (GRCm39) |
|
probably benign |
Het |
Lep |
T |
C |
6: 29,071,093 (GRCm39) |
L139P |
probably damaging |
Het |
Ltn1 |
T |
C |
16: 87,224,532 (GRCm39) |
D64G |
probably damaging |
Het |
Lyzl1 |
C |
T |
18: 4,168,604 (GRCm39) |
A28V |
probably null |
Het |
Mcam |
T |
C |
9: 44,051,693 (GRCm39) |
V483A |
probably benign |
Het |
Mia2 |
C |
T |
12: 59,217,053 (GRCm39) |
|
probably benign |
Het |
Mzf1 |
T |
A |
7: 12,778,279 (GRCm39) |
H454L |
probably damaging |
Het |
Pde10a |
A |
G |
17: 9,197,782 (GRCm39) |
T742A |
probably benign |
Het |
Rapgef4 |
A |
G |
2: 71,861,493 (GRCm39) |
Y61C |
probably benign |
Het |
Ryr2 |
A |
T |
13: 11,618,741 (GRCm39) |
|
probably benign |
Het |
Setbp1 |
G |
T |
18: 78,900,948 (GRCm39) |
H906Q |
probably damaging |
Het |
Slc12a4 |
A |
G |
8: 106,670,984 (GRCm39) |
V1032A |
probably benign |
Het |
Slc6a15 |
T |
C |
10: 103,236,140 (GRCm39) |
M285T |
probably damaging |
Het |
Spata31h1 |
G |
A |
10: 82,131,352 (GRCm39) |
Q553* |
probably null |
Het |
Steap2 |
A |
G |
5: 5,727,475 (GRCm39) |
Y287H |
probably damaging |
Het |
Tas2r135 |
T |
G |
6: 42,383,315 (GRCm39) |
F285V |
probably benign |
Het |
Tmco1 |
C |
T |
1: 167,136,132 (GRCm39) |
|
probably benign |
Het |
Ttn |
T |
C |
2: 76,618,538 (GRCm39) |
T16249A |
probably benign |
Het |
Usp8 |
A |
G |
2: 126,579,343 (GRCm39) |
T299A |
probably benign |
Het |
Vmn2r101 |
A |
G |
17: 19,811,288 (GRCm39) |
I457M |
possibly damaging |
Het |
Vps41 |
A |
G |
13: 19,023,883 (GRCm39) |
E437G |
probably benign |
Het |
Zfp638 |
A |
T |
6: 83,953,894 (GRCm39) |
E1333V |
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 |
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 |
|
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'- ATACCCAGGAGTACTTGCTTCTG -3'
(R):5'- GTTGGTGTTCTGACCACCTG -3'
Sequencing Primer
(F):5'- ACTTGCTTCTGAGATGAGGCACAG -3'
(R):5'- ACCTGGCCTTGGACCATTGTG -3'
|
Posted On |
2021-12-30 |