Incidental Mutation 'R5781:Arhgap10'
ID |
447732 |
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 |
043378-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.165)
|
Stock # |
R5781 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
8 |
Chromosomal Location |
77976995-78244582 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 78177336 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamine to Lysine
at position 100
(Q100K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000147485
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000076316]
[ENSMUST00000210519]
[ENSMUST00000210922]
|
AlphaFold |
Q6Y5D8 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000076316
AA Change: Q100K
PolyPhen 2
Score 0.555 (Sensitivity: 0.88; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000075658 Gene: ENSMUSG00000037148 AA Change: Q100K
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 |
possibly damaging
Transcript: ENSMUST00000210519
AA Change: Q100K
PolyPhen 2
Score 0.555 (Sensitivity: 0.88; Specificity: 0.91)
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000210922
AA Change: Q100K
PolyPhen 2
Score 0.555 (Sensitivity: 0.88; Specificity: 0.91)
|
Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.8%
- 10x: 97.6%
- 20x: 96.2%
|
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: 48 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca9 |
A |
G |
11: 109,992,813 (GRCm39) |
L1617P |
probably damaging |
Het |
Abhd16b |
T |
C |
2: 181,135,947 (GRCm39) |
V283A |
probably damaging |
Het |
Adamts19 |
G |
T |
18: 58,971,040 (GRCm39) |
R208L |
possibly damaging |
Het |
Adamts4 |
T |
C |
1: 171,078,584 (GRCm39) |
I56T |
possibly damaging |
Het |
Alpk1 |
A |
C |
3: 127,473,684 (GRCm39) |
V773G |
possibly damaging |
Het |
Arhgef18 |
T |
A |
8: 3,489,439 (GRCm39) |
|
probably null |
Het |
Asb15 |
A |
T |
6: 24,564,377 (GRCm39) |
H277L |
probably benign |
Het |
Ascc3 |
T |
A |
10: 50,514,074 (GRCm39) |
V291E |
probably damaging |
Het |
Cnot6l |
A |
C |
5: 96,234,024 (GRCm39) |
V329G |
probably benign |
Het |
Col14a1 |
A |
G |
15: 55,286,908 (GRCm39) |
T910A |
unknown |
Het |
Dhdds |
G |
A |
4: 133,724,141 (GRCm39) |
L58F |
probably damaging |
Het |
Dsc2 |
A |
G |
18: 20,165,567 (GRCm39) |
I846T |
probably benign |
Het |
Evc |
A |
T |
5: 37,483,914 (GRCm39) |
S129T |
probably damaging |
Het |
Fetub |
C |
T |
16: 22,751,081 (GRCm39) |
R143C |
probably damaging |
Het |
Fyco1 |
A |
G |
9: 123,623,898 (GRCm39) |
V1377A |
probably damaging |
Het |
Haus6 |
C |
T |
4: 86,519,500 (GRCm39) |
A203T |
possibly damaging |
Het |
Hkdc1 |
T |
G |
10: 62,253,712 (GRCm39) |
D23A |
probably damaging |
Het |
Hpdl |
C |
T |
4: 116,677,775 (GRCm39) |
V229M |
probably damaging |
Het |
Hspa12a |
T |
C |
19: 58,810,518 (GRCm39) |
Y175C |
probably damaging |
Het |
Hyal1 |
C |
T |
9: 107,454,866 (GRCm39) |
P59S |
probably damaging |
Het |
Itpr1 |
G |
A |
6: 108,487,699 (GRCm39) |
C2374Y |
probably benign |
Het |
Kmt2a |
A |
T |
9: 44,759,139 (GRCm39) |
Y114* |
probably null |
Het |
Mc2r |
A |
T |
18: 68,540,466 (GRCm39) |
Y276N |
possibly damaging |
Het |
Mc2r |
A |
T |
18: 68,540,468 (GRCm39) |
I275K |
probably damaging |
Het |
Mlycd |
A |
G |
8: 120,137,019 (GRCm39) |
Y413C |
probably damaging |
Het |
Mocs2 |
T |
G |
13: 114,957,455 (GRCm39) |
S86R |
probably damaging |
Het |
Msx2 |
C |
A |
13: 53,626,644 (GRCm39) |
A35S |
probably benign |
Het |
Or6c201 |
A |
T |
10: 128,969,016 (GRCm39) |
L207H |
probably damaging |
Het |
Pla2g4f |
C |
A |
2: 120,135,504 (GRCm39) |
S390I |
probably damaging |
Het |
Plcl1 |
C |
T |
1: 55,735,148 (GRCm39) |
A163V |
possibly damaging |
Het |
Pnn |
T |
C |
12: 59,118,605 (GRCm39) |
V396A |
probably damaging |
Het |
Rbmxl1 |
G |
A |
8: 79,232,270 (GRCm39) |
|
probably benign |
Het |
Recql |
G |
T |
6: 142,311,344 (GRCm39) |
|
probably null |
Het |
Rev3l |
T |
A |
10: 39,699,089 (GRCm39) |
N1195K |
probably benign |
Het |
Rfwd3 |
G |
A |
8: 111,999,716 (GRCm39) |
T754M |
probably benign |
Het |
Sctr |
A |
G |
1: 119,959,350 (GRCm39) |
T98A |
probably damaging |
Het |
Sdk1 |
T |
A |
5: 141,921,803 (GRCm39) |
D6E |
probably benign |
Het |
Smpdl3a |
T |
A |
10: 57,684,034 (GRCm39) |
I264K |
possibly damaging |
Het |
Spag6 |
A |
G |
2: 18,736,804 (GRCm39) |
I154V |
probably benign |
Het |
Tbc1d12 |
A |
C |
19: 38,871,127 (GRCm39) |
T297P |
probably benign |
Het |
Tgfb1 |
A |
G |
7: 25,396,385 (GRCm39) |
D226G |
probably benign |
Het |
Ubr3 |
G |
T |
2: 69,846,588 (GRCm39) |
|
probably null |
Het |
Ubr4 |
T |
C |
4: 139,195,407 (GRCm39) |
Y1210H |
probably damaging |
Het |
Ubr5 |
T |
C |
15: 38,006,785 (GRCm39) |
T1157A |
probably benign |
Het |
Vmn2r120 |
T |
G |
17: 57,831,938 (GRCm39) |
T284P |
probably benign |
Het |
Vps13b |
G |
T |
15: 35,794,181 (GRCm39) |
A2286S |
probably damaging |
Het |
Zcchc14 |
A |
T |
8: 122,331,332 (GRCm39) |
|
probably benign |
Het |
Zfr2 |
T |
A |
10: 81,079,547 (GRCm39) |
V362E |
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 |
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 |
|
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'- CAGAAACTTCAGCAGAGAGGTC -3'
(R):5'- TCGCTCAGAGACTTCAAGTTCG -3'
Sequencing Primer
(F):5'- GTCCAGGACCTTGACCAAG -3'
(R):5'- CAGAGACTTCAAGTTCGAGTTTATC -3'
|
Posted On |
2016-12-15 |