Incidental Mutation 'R5861:Arhgap10'
| ID |
453917 |
| 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 |
044073-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.160)
|
| Stock # |
R5861 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
77976995-78244582 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 78037393 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Threonine
at position 612
(A612T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000147485
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000076316]
[ENSMUST00000210519]
[ENSMUST00000210922]
|
| AlphaFold |
Q6Y5D8 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000076316
AA Change: A612T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000075658
Gene: ENSMUSG00000037148
AA Change: A612T
| 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 |
noncoding transcript
Transcript: ENSMUST00000209302
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000210519
AA Change: A590T
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000210922
AA Change: A612T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Meta Mutation Damage Score |
0.1656 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.4%
- 10x: 97.3%
- 20x: 91.3%
|
| Validation Efficiency |
98% (81/83) |
| 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: 67 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc5 |
G |
T |
16: 20,218,644 (GRCm39) |
T246N |
probably damaging |
Het |
| Aopep |
A |
G |
13: 63,446,626 (GRCm39) |
D143G |
probably damaging |
Het |
| Arsg |
T |
A |
11: 109,454,014 (GRCm39) |
F407I |
probably damaging |
Het |
| Asxl1 |
C |
A |
2: 153,241,310 (GRCm39) |
A620D |
probably damaging |
Het |
| C2cd3 |
A |
G |
7: 100,093,682 (GRCm39) |
|
probably benign |
Het |
| Chn2 |
G |
A |
6: 54,267,359 (GRCm39) |
V92I |
probably damaging |
Het |
| Cog2 |
T |
C |
8: 125,264,617 (GRCm39) |
F332S |
probably damaging |
Het |
| Crhbp |
G |
A |
13: 95,580,333 (GRCm39) |
A82V |
probably damaging |
Het |
| Cyp2j6 |
A |
G |
4: 96,434,040 (GRCm39) |
V90A |
possibly damaging |
Het |
| Dennd4c |
A |
T |
4: 86,709,589 (GRCm39) |
M397L |
probably benign |
Het |
| Dnajb8 |
A |
G |
6: 88,200,088 (GRCm39) |
D208G |
possibly damaging |
Het |
| Ecm1 |
G |
C |
3: 95,643,909 (GRCm39) |
L230V |
probably damaging |
Het |
| Ercc2 |
G |
C |
7: 19,128,066 (GRCm39) |
A696P |
possibly damaging |
Het |
| Fkbpl |
G |
A |
17: 34,864,303 (GRCm39) |
A24T |
probably benign |
Het |
| Gm13035 |
A |
G |
4: 146,009,859 (GRCm39) |
|
noncoding transcript |
Het |
| Gm28042 |
T |
C |
2: 119,865,116 (GRCm39) |
V247A |
probably damaging |
Het |
| Gm28455 |
T |
A |
7: 39,148,003 (GRCm39) |
|
noncoding transcript |
Het |
| Gpr150 |
A |
T |
13: 76,204,192 (GRCm39) |
V251D |
possibly damaging |
Het |
| Grip1 |
C |
T |
10: 119,765,875 (GRCm39) |
S69L |
probably damaging |
Het |
| Hs6st3 |
A |
G |
14: 119,376,265 (GRCm39) |
I147V |
possibly damaging |
Het |
| Il5 |
G |
A |
11: 53,614,743 (GRCm39) |
E102K |
probably benign |
Het |
| Kif1c |
T |
C |
11: 70,594,621 (GRCm39) |
F94L |
probably damaging |
Het |
| Lrrc63 |
T |
C |
14: 75,344,806 (GRCm39) |
E427G |
possibly damaging |
Het |
| Man1b1 |
A |
G |
2: 25,238,066 (GRCm39) |
T384A |
probably benign |
Het |
| Mapk15 |
C |
A |
15: 75,868,208 (GRCm39) |
|
probably benign |
Het |
| Mfsd10 |
T |
C |
5: 34,791,588 (GRCm39) |
|
probably benign |
Het |
| Mgat5 |
C |
A |
1: 127,315,129 (GRCm39) |
A285E |
probably damaging |
Het |
| Mroh4 |
T |
A |
15: 74,478,456 (GRCm39) |
|
probably benign |
Het |
| Myf5 |
A |
T |
10: 107,320,069 (GRCm39) |
C194S |
probably benign |
Het |
| Myh7 |
A |
G |
14: 55,226,347 (GRCm39) |
V431A |
possibly damaging |
Het |
| Nadsyn1 |
A |
C |
7: 143,364,964 (GRCm39) |
M247R |
possibly damaging |
Het |
| Nipsnap3b |
A |
G |
4: 53,021,177 (GRCm39) |
D166G |
probably damaging |
Het |
| Nqo2 |
A |
T |
13: 34,156,413 (GRCm39) |
L42F |
probably damaging |
Het |
| Nt5dc3 |
A |
T |
10: 86,651,738 (GRCm39) |
D180V |
probably damaging |
Het |
| Numa1 |
C |
A |
7: 101,658,494 (GRCm39) |
|
probably null |
Het |
| Olfm3 |
T |
A |
3: 114,916,052 (GRCm39) |
L328Q |
probably damaging |
Het |
| Or4e1 |
T |
C |
14: 52,700,953 (GRCm39) |
Y171C |
probably damaging |
Het |
| Or5w17 |
A |
T |
2: 87,583,922 (GRCm39) |
N138K |
probably benign |
Het |
| Or7a37 |
A |
T |
10: 78,805,765 (GRCm39) |
Y94F |
probably damaging |
Het |
| Papolb |
T |
C |
5: 142,514,992 (GRCm39) |
N217S |
possibly damaging |
Het |
| Pcmtd2 |
C |
A |
2: 181,484,268 (GRCm39) |
T26K |
probably damaging |
Het |
| Pld5 |
T |
G |
1: 175,917,571 (GRCm39) |
N59H |
probably damaging |
Het |
| Ppm1d |
T |
C |
11: 85,202,674 (GRCm39) |
S126P |
possibly damaging |
Het |
| Ppp1r21 |
T |
C |
17: 88,889,937 (GRCm39) |
L727P |
probably damaging |
Het |
| Pramel20 |
G |
T |
4: 143,297,810 (GRCm39) |
V77L |
probably benign |
Het |
| Prpsap2 |
C |
T |
11: 61,627,870 (GRCm39) |
R202H |
probably damaging |
Het |
| Rara |
T |
A |
11: 98,858,987 (GRCm39) |
C148* |
probably null |
Het |
| Rexo2 |
A |
T |
9: 48,386,481 (GRCm39) |
I83N |
probably damaging |
Het |
| Rnf213 |
A |
G |
11: 119,364,203 (GRCm39) |
R4501G |
probably damaging |
Het |
| Rps5 |
T |
A |
7: 12,659,501 (GRCm39) |
F97L |
probably damaging |
Het |
| Sigirr |
G |
A |
7: 140,671,292 (GRCm39) |
R397W |
probably damaging |
Het |
| Slc6a6 |
T |
C |
6: 91,718,014 (GRCm39) |
Y318H |
probably damaging |
Het |
| Spam1 |
A |
G |
6: 24,796,570 (GRCm39) |
T174A |
probably benign |
Het |
| Stam2 |
G |
T |
2: 52,632,116 (GRCm39) |
|
probably benign |
Het |
| Taar7a |
T |
C |
10: 23,868,337 (GRCm39) |
E348G |
probably benign |
Het |
| Taf11 |
T |
C |
17: 28,120,644 (GRCm39) |
T209A |
probably benign |
Het |
| Tenm4 |
A |
G |
7: 96,492,424 (GRCm39) |
|
probably benign |
Het |
| Tmed6 |
G |
T |
8: 107,790,786 (GRCm39) |
T87K |
probably damaging |
Het |
| Trim5 |
G |
T |
7: 103,928,726 (GRCm39) |
H72N |
probably benign |
Het |
| Trim5 |
A |
C |
7: 103,928,728 (GRCm39) |
L71R |
probably benign |
Het |
| Uevld |
A |
T |
7: 46,576,104 (GRCm39) |
S461T |
probably benign |
Het |
| Vmn2r6 |
T |
A |
3: 64,463,454 (GRCm39) |
N460I |
probably benign |
Het |
| Ylpm1 |
C |
T |
12: 85,087,660 (GRCm39) |
P1148L |
probably damaging |
Het |
| Zfp316 |
T |
C |
5: 143,249,095 (GRCm39) |
Y180C |
unknown |
Het |
| Zfp941 |
A |
G |
7: 140,392,052 (GRCm39) |
S436P |
probably damaging |
Het |
| Zfp979 |
G |
A |
4: 147,697,966 (GRCm39) |
Q248* |
probably null |
Het |
| Zscan29 |
G |
T |
2: 120,994,518 (GRCm39) |
T489N |
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 |
|
|
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'- TTCTCTCTGACCAGAAAGCG -3'
(R):5'- GTGGCTGGACTCTGCTTTAC -3'
Sequencing Primer
(F):5'- GAAAGCGTCACCCTCCCTG -3'
(R):5'- TTTACTCCAGCAGTGCACAGG -3'
|
| Posted On |
2017-02-10 |
Incidental Mutation