Incidental Mutation 'R8854:Arhgef10'
ID |
675182 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Arhgef10
|
Ensembl Gene |
ENSMUSG00000071176 |
Gene Name |
Rho guanine nucleotide exchange factor 10 |
Synonyms |
6430549H08Rik |
MMRRC Submission |
068676-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R8854 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
8 |
Chromosomal Location |
14961663-15051085 bp(+) (GRCm39) |
Type of Mutation |
critical splice acceptor site |
DNA Base Change (assembly) |
A to G
at 15029798 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000081225
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000084207]
[ENSMUST00000084207]
[ENSMUST00000110800]
[ENSMUST00000163062]
|
AlphaFold |
Q8C033 |
Predicted Effect |
probably null
Transcript: ENSMUST00000084207
|
SMART Domains |
Protein: ENSMUSP00000081225 Gene: ENSMUSG00000071176
Domain | Start | End | E-Value | Type |
low complexity region
|
73 |
82 |
N/A |
INTRINSIC |
low complexity region
|
155 |
165 |
N/A |
INTRINSIC |
low complexity region
|
236 |
245 |
N/A |
INTRINSIC |
low complexity region
|
247 |
265 |
N/A |
INTRINSIC |
coiled coil region
|
308 |
335 |
N/A |
INTRINSIC |
RhoGEF
|
401 |
583 |
9.79e-58 |
SMART |
Blast:PH
|
617 |
829 |
6e-47 |
BLAST |
low complexity region
|
1256 |
1272 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000084207
|
SMART Domains |
Protein: ENSMUSP00000081225 Gene: ENSMUSG00000071176
Domain | Start | End | E-Value | Type |
low complexity region
|
73 |
82 |
N/A |
INTRINSIC |
low complexity region
|
155 |
165 |
N/A |
INTRINSIC |
low complexity region
|
236 |
245 |
N/A |
INTRINSIC |
low complexity region
|
247 |
265 |
N/A |
INTRINSIC |
coiled coil region
|
308 |
335 |
N/A |
INTRINSIC |
RhoGEF
|
401 |
583 |
9.79e-58 |
SMART |
Blast:PH
|
617 |
829 |
6e-47 |
BLAST |
low complexity region
|
1256 |
1272 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000110800
|
SMART Domains |
Protein: ENSMUSP00000106424 Gene: ENSMUSG00000071176
Domain | Start | End | E-Value | Type |
low complexity region
|
73 |
82 |
N/A |
INTRINSIC |
low complexity region
|
155 |
165 |
N/A |
INTRINSIC |
low complexity region
|
236 |
245 |
N/A |
INTRINSIC |
low complexity region
|
247 |
265 |
N/A |
INTRINSIC |
low complexity region
|
280 |
291 |
N/A |
INTRINSIC |
RhoGEF
|
362 |
544 |
9.79e-58 |
SMART |
Blast:PH
|
578 |
790 |
8e-47 |
BLAST |
low complexity region
|
1217 |
1233 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000163062
|
SMART Domains |
Protein: ENSMUSP00000125526 Gene: ENSMUSG00000071176
Domain | Start | End | E-Value | Type |
RhoGEF
|
73 |
255 |
9.79e-58 |
SMART |
Blast:PH
|
289 |
501 |
2e-47 |
BLAST |
low complexity region
|
899 |
915 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.4%
|
Validation Efficiency |
100% (64/64) |
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a Rho guanine nucleotide exchange factor (GEF). Rho GEFs regulate the activity of small Rho GTPases by stimulating the exchange of guanine diphosphate (GDP) for guanine triphosphate (GTP) and may play a role in neural morphogenesis. Mutations in this gene are associated with slowed nerve conduction velocity (SNCV). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2015]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 63 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aldh1a1 |
G |
A |
19: 20,588,297 (GRCm39) |
W29* |
probably null |
Het |
Ankib1 |
C |
A |
5: 3,777,489 (GRCm39) |
W467L |
probably null |
Het |
Arpc1b |
C |
A |
5: 145,060,405 (GRCm39) |
R66S |
probably benign |
Het |
Atoh1 |
A |
T |
6: 64,706,189 (GRCm39) |
|
probably benign |
Het |
Bach2 |
T |
A |
4: 32,575,263 (GRCm39) |
D619E |
possibly damaging |
Het |
Bbs9 |
T |
C |
9: 22,490,060 (GRCm39) |
I277T |
probably damaging |
Het |
Cadps2 |
G |
A |
6: 23,385,507 (GRCm39) |
P772S |
probably damaging |
Het |
Cd1d1 |
T |
A |
3: 86,905,480 (GRCm39) |
D171V |
probably damaging |
Het |
Cfap20dc |
A |
T |
14: 8,518,638 (GRCm38) |
S273T |
probably damaging |
Het |
Clca3a2 |
C |
T |
3: 144,783,852 (GRCm39) |
A588T |
possibly damaging |
Het |
Cps1 |
A |
G |
1: 67,200,048 (GRCm39) |
K399E |
probably damaging |
Het |
Cpt1a |
T |
C |
19: 3,406,327 (GRCm39) |
S98P |
probably benign |
Het |
Cryzl2 |
A |
G |
1: 157,286,370 (GRCm39) |
K36R |
possibly damaging |
Het |
Cxcl13 |
T |
C |
5: 96,104,861 (GRCm39) |
L11P |
unknown |
Het |
Dbf4 |
T |
A |
5: 8,458,562 (GRCm39) |
D151V |
probably damaging |
Het |
Eogt |
A |
T |
6: 97,108,359 (GRCm39) |
C227* |
probably null |
Het |
Fermt3 |
T |
A |
19: 6,991,310 (GRCm39) |
D231V |
probably damaging |
Het |
Il2rb |
T |
C |
15: 78,369,953 (GRCm39) |
T229A |
probably benign |
Het |
Ildr1 |
T |
A |
16: 36,535,910 (GRCm39) |
Y142N |
probably damaging |
Het |
Kcnv2 |
A |
T |
19: 27,311,258 (GRCm39) |
T542S |
probably benign |
Het |
Kif26b |
G |
A |
1: 178,743,948 (GRCm39) |
G1348E |
possibly damaging |
Het |
Lancl1 |
C |
T |
1: 67,073,358 (GRCm39) |
E42K |
possibly damaging |
Het |
Lrp1 |
T |
A |
10: 127,378,968 (GRCm39) |
D4010V |
probably damaging |
Het |
Mark2 |
A |
G |
19: 7,258,369 (GRCm39) |
V640A |
probably benign |
Het |
Megf6 |
C |
T |
4: 154,352,469 (GRCm39) |
T1276M |
probably damaging |
Het |
Meioc |
T |
C |
11: 102,566,589 (GRCm39) |
M735T |
probably damaging |
Het |
Mfsd4b5 |
C |
A |
10: 39,846,735 (GRCm39) |
V282L |
probably damaging |
Het |
Mlx |
T |
A |
11: 100,981,951 (GRCm39) |
V286E |
|
Het |
Ms4a18 |
G |
A |
19: 10,990,887 (GRCm39) |
T69I |
probably benign |
Het |
Muc1 |
C |
T |
3: 89,139,412 (GRCm39) |
P604L |
probably damaging |
Het |
Net1 |
G |
T |
13: 3,934,214 (GRCm39) |
D548E |
probably benign |
Het |
Ngly1 |
T |
C |
14: 16,281,769 (GRCm38) |
S342P |
probably damaging |
Het |
Niban1 |
A |
G |
1: 151,584,950 (GRCm39) |
K516E |
probably damaging |
Het |
Nipbl |
A |
T |
15: 8,330,210 (GRCm39) |
I2405N |
probably damaging |
Het |
Nkx2-1 |
A |
T |
12: 56,580,206 (GRCm39) |
C245S |
probably benign |
Het |
Or52ab7 |
T |
C |
7: 102,978,023 (GRCm39) |
I110T |
probably damaging |
Het |
Or5p76 |
T |
A |
7: 108,122,936 (GRCm39) |
I74L |
probably benign |
Het |
Pcare |
T |
C |
17: 72,056,326 (GRCm39) |
Y1117C |
probably benign |
Het |
Pcdhgb5 |
C |
T |
18: 37,865,501 (GRCm39) |
T432I |
probably benign |
Het |
Plpp4 |
T |
A |
7: 128,909,362 (GRCm39) |
L24* |
probably null |
Het |
Pnma8a |
T |
C |
7: 16,695,104 (GRCm39) |
S320P |
possibly damaging |
Het |
Sass6 |
C |
A |
3: 116,399,384 (GRCm39) |
Q93K |
possibly damaging |
Het |
Sirpb1c |
T |
C |
3: 15,887,308 (GRCm39) |
N177S |
possibly damaging |
Het |
Slc22a30 |
A |
G |
19: 8,363,754 (GRCm39) |
|
probably null |
Het |
Snd1 |
A |
G |
6: 28,526,968 (GRCm39) |
H217R |
probably benign |
Het |
Spata31d1c |
C |
A |
13: 65,183,804 (GRCm39) |
Q449K |
possibly damaging |
Het |
Spidr |
A |
G |
16: 15,707,630 (GRCm39) |
V889A |
probably damaging |
Het |
Suclg2 |
A |
T |
6: 95,572,650 (GRCm39) |
V105D |
probably damaging |
Het |
Syne1 |
A |
T |
10: 5,078,503 (GRCm39) |
M974K |
probably benign |
Het |
Tbrg4 |
A |
T |
11: 6,566,691 (GRCm39) |
D605E |
probably benign |
Het |
Tcn2 |
A |
G |
11: 3,876,074 (GRCm39) |
F118S |
possibly damaging |
Het |
Tcstv2b |
T |
A |
13: 120,377,825 (GRCm39) |
|
probably benign |
Het |
Tfap4 |
T |
C |
16: 4,367,238 (GRCm39) |
H208R |
probably benign |
Het |
Trf |
A |
G |
9: 103,107,529 (GRCm39) |
|
probably benign |
Het |
Trpc4 |
A |
T |
3: 54,102,122 (GRCm39) |
K7* |
probably null |
Het |
Uap1 |
G |
T |
1: 169,976,984 (GRCm39) |
P405Q |
probably damaging |
Het |
Usp33 |
C |
A |
3: 152,073,967 (GRCm39) |
T271N |
probably benign |
Het |
Usp42 |
T |
C |
5: 143,702,632 (GRCm39) |
D663G |
possibly damaging |
Het |
Vmn2r10 |
T |
C |
5: 109,144,126 (GRCm39) |
D608G |
probably benign |
Het |
Wfdc16 |
G |
A |
2: 164,480,486 (GRCm39) |
P3L |
probably benign |
Het |
Zfp28 |
T |
C |
7: 6,397,938 (GRCm39) |
I791T |
probably benign |
Het |
Zfp970 |
A |
T |
2: 177,165,088 (GRCm39) |
T5S |
probably damaging |
Het |
Zfy1 |
A |
T |
Y: 726,501 (GRCm39) |
H421Q |
possibly damaging |
Het |
|
Other mutations in Arhgef10 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00766:Arhgef10
|
APN |
8 |
15,025,006 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL00823:Arhgef10
|
APN |
8 |
14,990,378 (GRCm39) |
unclassified |
probably benign |
|
IGL01012:Arhgef10
|
APN |
8 |
15,029,977 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL01311:Arhgef10
|
APN |
8 |
15,041,054 (GRCm39) |
splice site |
probably null |
|
IGL01596:Arhgef10
|
APN |
8 |
15,049,468 (GRCm39) |
nonsense |
probably null |
|
IGL01888:Arhgef10
|
APN |
8 |
15,012,577 (GRCm39) |
nonsense |
probably null |
|
IGL01938:Arhgef10
|
APN |
8 |
15,041,062 (GRCm39) |
missense |
probably benign |
0.09 |
IGL02151:Arhgef10
|
APN |
8 |
14,978,889 (GRCm39) |
missense |
possibly damaging |
0.77 |
IGL02274:Arhgef10
|
APN |
8 |
14,997,205 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL02369:Arhgef10
|
APN |
8 |
15,047,551 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02411:Arhgef10
|
APN |
8 |
15,004,819 (GRCm39) |
missense |
probably benign |
0.01 |
IGL02500:Arhgef10
|
APN |
8 |
15,011,238 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02597:Arhgef10
|
APN |
8 |
14,980,198 (GRCm39) |
missense |
probably benign |
0.27 |
IGL02602:Arhgef10
|
APN |
8 |
14,980,198 (GRCm39) |
missense |
probably benign |
0.27 |
IGL02743:Arhgef10
|
APN |
8 |
14,980,198 (GRCm39) |
missense |
probably benign |
0.27 |
IGL02744:Arhgef10
|
APN |
8 |
14,980,198 (GRCm39) |
missense |
probably benign |
0.27 |
IGL03113:Arhgef10
|
APN |
8 |
15,004,505 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03248:Arhgef10
|
APN |
8 |
14,978,847 (GRCm39) |
missense |
probably benign |
0.00 |
P0028:Arhgef10
|
UTSW |
8 |
14,978,925 (GRCm39) |
missense |
possibly damaging |
0.79 |
P4748:Arhgef10
|
UTSW |
8 |
14,978,925 (GRCm39) |
missense |
possibly damaging |
0.79 |
R0049:Arhgef10
|
UTSW |
8 |
15,004,446 (GRCm39) |
missense |
probably damaging |
1.00 |
R0197:Arhgef10
|
UTSW |
8 |
15,012,636 (GRCm39) |
missense |
probably damaging |
1.00 |
R0479:Arhgef10
|
UTSW |
8 |
15,041,070 (GRCm39) |
missense |
probably damaging |
0.98 |
R0701:Arhgef10
|
UTSW |
8 |
15,012,636 (GRCm39) |
missense |
probably damaging |
1.00 |
R0966:Arhgef10
|
UTSW |
8 |
14,990,343 (GRCm39) |
missense |
probably benign |
0.01 |
R1367:Arhgef10
|
UTSW |
8 |
14,990,225 (GRCm39) |
missense |
probably damaging |
1.00 |
R1572:Arhgef10
|
UTSW |
8 |
15,041,211 (GRCm39) |
missense |
possibly damaging |
0.53 |
R1631:Arhgef10
|
UTSW |
8 |
14,997,157 (GRCm39) |
missense |
probably damaging |
0.98 |
R1766:Arhgef10
|
UTSW |
8 |
15,029,836 (GRCm39) |
missense |
probably damaging |
1.00 |
R1920:Arhgef10
|
UTSW |
8 |
15,006,987 (GRCm39) |
splice site |
probably benign |
|
R2051:Arhgef10
|
UTSW |
8 |
14,995,320 (GRCm39) |
missense |
probably null |
1.00 |
R2088:Arhgef10
|
UTSW |
8 |
15,033,898 (GRCm39) |
missense |
possibly damaging |
0.46 |
R2118:Arhgef10
|
UTSW |
8 |
14,984,820 (GRCm39) |
missense |
probably damaging |
0.99 |
R2120:Arhgef10
|
UTSW |
8 |
14,984,820 (GRCm39) |
missense |
probably damaging |
0.99 |
R2121:Arhgef10
|
UTSW |
8 |
14,984,820 (GRCm39) |
missense |
probably damaging |
0.99 |
R2122:Arhgef10
|
UTSW |
8 |
14,984,820 (GRCm39) |
missense |
probably damaging |
0.99 |
R2124:Arhgef10
|
UTSW |
8 |
14,984,820 (GRCm39) |
missense |
probably damaging |
0.99 |
R2318:Arhgef10
|
UTSW |
8 |
14,978,855 (GRCm39) |
missense |
probably damaging |
1.00 |
R2870:Arhgef10
|
UTSW |
8 |
15,025,666 (GRCm39) |
missense |
probably benign |
0.01 |
R2870:Arhgef10
|
UTSW |
8 |
15,025,666 (GRCm39) |
missense |
probably benign |
0.01 |
R2870:Arhgef10
|
UTSW |
8 |
15,025,093 (GRCm39) |
critical splice donor site |
probably null |
|
R2870:Arhgef10
|
UTSW |
8 |
15,025,093 (GRCm39) |
critical splice donor site |
probably null |
|
R2872:Arhgef10
|
UTSW |
8 |
15,025,666 (GRCm39) |
missense |
probably benign |
0.01 |
R2872:Arhgef10
|
UTSW |
8 |
15,025,666 (GRCm39) |
missense |
probably benign |
0.01 |
R2872:Arhgef10
|
UTSW |
8 |
15,025,093 (GRCm39) |
critical splice donor site |
probably null |
|
R2872:Arhgef10
|
UTSW |
8 |
15,025,093 (GRCm39) |
critical splice donor site |
probably null |
|
R2874:Arhgef10
|
UTSW |
8 |
15,025,666 (GRCm39) |
missense |
probably benign |
0.01 |
R2874:Arhgef10
|
UTSW |
8 |
15,025,093 (GRCm39) |
critical splice donor site |
probably null |
|
R3522:Arhgef10
|
UTSW |
8 |
15,004,918 (GRCm39) |
missense |
probably damaging |
1.00 |
R4049:Arhgef10
|
UTSW |
8 |
15,029,998 (GRCm39) |
missense |
probably benign |
0.05 |
R4324:Arhgef10
|
UTSW |
8 |
14,990,335 (GRCm39) |
missense |
possibly damaging |
0.77 |
R4351:Arhgef10
|
UTSW |
8 |
15,041,145 (GRCm39) |
nonsense |
probably null |
|
R4384:Arhgef10
|
UTSW |
8 |
14,980,157 (GRCm39) |
nonsense |
probably null |
|
R4385:Arhgef10
|
UTSW |
8 |
14,980,157 (GRCm39) |
nonsense |
probably null |
|
R4685:Arhgef10
|
UTSW |
8 |
15,006,963 (GRCm39) |
missense |
probably damaging |
1.00 |
R5111:Arhgef10
|
UTSW |
8 |
14,982,408 (GRCm39) |
missense |
probably benign |
0.00 |
R5169:Arhgef10
|
UTSW |
8 |
14,980,051 (GRCm39) |
missense |
possibly damaging |
0.80 |
R5670:Arhgef10
|
UTSW |
8 |
15,004,774 (GRCm39) |
missense |
probably benign |
0.01 |
R5945:Arhgef10
|
UTSW |
8 |
15,030,028 (GRCm39) |
critical splice donor site |
probably null |
|
R6593:Arhgef10
|
UTSW |
8 |
15,012,564 (GRCm39) |
missense |
possibly damaging |
0.82 |
R6593:Arhgef10
|
UTSW |
8 |
15,012,522 (GRCm39) |
missense |
probably damaging |
1.00 |
R6734:Arhgef10
|
UTSW |
8 |
15,025,053 (GRCm39) |
missense |
probably damaging |
1.00 |
R6859:Arhgef10
|
UTSW |
8 |
15,025,005 (GRCm39) |
missense |
probably damaging |
1.00 |
R6890:Arhgef10
|
UTSW |
8 |
14,978,786 (GRCm39) |
missense |
probably benign |
0.27 |
R7068:Arhgef10
|
UTSW |
8 |
15,008,639 (GRCm39) |
missense |
probably damaging |
1.00 |
R7081:Arhgef10
|
UTSW |
8 |
15,047,547 (GRCm39) |
nonsense |
probably null |
|
R7157:Arhgef10
|
UTSW |
8 |
14,980,030 (GRCm39) |
missense |
probably damaging |
1.00 |
R7232:Arhgef10
|
UTSW |
8 |
14,990,323 (GRCm39) |
missense |
probably benign |
0.10 |
R7514:Arhgef10
|
UTSW |
8 |
15,025,956 (GRCm39) |
missense |
probably benign |
0.16 |
R7544:Arhgef10
|
UTSW |
8 |
15,029,854 (GRCm39) |
missense |
probably benign |
0.34 |
R7657:Arhgef10
|
UTSW |
8 |
15,029,893 (GRCm39) |
missense |
probably damaging |
1.00 |
R7736:Arhgef10
|
UTSW |
8 |
15,030,583 (GRCm39) |
nonsense |
probably null |
|
R7777:Arhgef10
|
UTSW |
8 |
14,995,373 (GRCm39) |
missense |
probably damaging |
1.00 |
R8000:Arhgef10
|
UTSW |
8 |
14,980,054 (GRCm39) |
missense |
probably damaging |
1.00 |
R8060:Arhgef10
|
UTSW |
8 |
15,004,446 (GRCm39) |
missense |
probably damaging |
1.00 |
R8441:Arhgef10
|
UTSW |
8 |
15,041,237 (GRCm39) |
splice site |
probably benign |
|
R8545:Arhgef10
|
UTSW |
8 |
15,025,931 (GRCm39) |
missense |
possibly damaging |
0.83 |
R8545:Arhgef10
|
UTSW |
8 |
14,978,868 (GRCm39) |
missense |
probably benign |
0.00 |
R8702:Arhgef10
|
UTSW |
8 |
14,992,638 (GRCm39) |
missense |
probably benign |
|
R8846:Arhgef10
|
UTSW |
8 |
15,025,956 (GRCm39) |
missense |
probably benign |
0.16 |
R9076:Arhgef10
|
UTSW |
8 |
15,024,993 (GRCm39) |
missense |
probably damaging |
1.00 |
R9384:Arhgef10
|
UTSW |
8 |
15,041,067 (GRCm39) |
missense |
probably damaging |
0.99 |
R9479:Arhgef10
|
UTSW |
8 |
15,047,632 (GRCm39) |
missense |
probably damaging |
1.00 |
R9799:Arhgef10
|
UTSW |
8 |
14,990,268 (GRCm39) |
missense |
probably damaging |
0.99 |
X0024:Arhgef10
|
UTSW |
8 |
15,028,486 (GRCm39) |
missense |
probably benign |
0.01 |
X0027:Arhgef10
|
UTSW |
8 |
15,047,631 (GRCm39) |
missense |
possibly damaging |
0.92 |
Z1088:Arhgef10
|
UTSW |
8 |
15,014,191 (GRCm39) |
missense |
probably benign |
0.01 |
|
Predicted Primers |
PCR Primer
(F):5'- ATGGGCTCTCTTGGAAATCC -3'
(R):5'- GCACTGAGGACAATCCCTAG -3'
Sequencing Primer
(F):5'- GGGCTCTCTTGGAAATCCTTTCAC -3'
(R):5'- ACAATCCCTAGAACAGTGTGTG -3'
|
Posted On |
2021-07-15 |