Incidental Mutation 'R7157:Arhgef10'
ID |
557376 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Arhgef10
|
Ensembl Gene |
ENSMUSG00000071176 |
Gene Name |
Rho guanine nucleotide exchange factor 10 |
Synonyms |
6430549H08Rik |
MMRRC Submission |
045258-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R7157 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
8 |
Chromosomal Location |
14961663-15051085 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 14980030 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Glutamic Acid
at position 90
(V90E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000081225
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000084207]
[ENSMUST00000110800]
[ENSMUST00000161162]
|
AlphaFold |
Q8C033 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000084207
AA Change: V90E
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000081225 Gene: ENSMUSG00000071176 AA Change: V90E
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 damaging
Transcript: ENSMUST00000110800
AA Change: V90E
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000106424 Gene: ENSMUSG00000071176 AA Change: V90E
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 damaging
Transcript: ENSMUST00000161162
AA Change: V90E
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000125606 Gene: ENSMUSG00000071176 AA Change: V90E
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
|
235 |
244 |
N/A |
INTRINSIC |
low complexity region
|
246 |
264 |
N/A |
INTRINSIC |
coiled coil region
|
307 |
334 |
N/A |
INTRINSIC |
RhoGEF
|
400 |
579 |
2.2e-51 |
SMART |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.2%
|
Validation Efficiency |
|
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: 65 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2610021A01Rik |
G |
A |
7: 41,276,400 (GRCm39) |
G701D |
probably damaging |
Het |
6030468B19Rik |
T |
A |
11: 117,693,780 (GRCm39) |
N82K |
probably damaging |
Het |
Abca17 |
A |
T |
17: 24,554,564 (GRCm39) |
V130E |
possibly damaging |
Het |
Alpk2 |
T |
A |
18: 65,399,348 (GRCm39) |
K2077* |
probably null |
Het |
Aox1 |
T |
C |
1: 58,322,651 (GRCm39) |
F73S |
probably benign |
Het |
Ap3b1 |
T |
A |
13: 94,668,542 (GRCm39) |
C965* |
probably null |
Het |
Atr |
T |
A |
9: 95,751,953 (GRCm39) |
H523Q |
probably benign |
Het |
Bicdl1 |
G |
T |
5: 115,789,916 (GRCm39) |
Q511K |
possibly damaging |
Het |
Capn15 |
A |
T |
17: 26,184,228 (GRCm39) |
N150K |
probably damaging |
Het |
Card6 |
A |
T |
15: 5,129,591 (GRCm39) |
W602R |
probably benign |
Het |
Clnk |
A |
T |
5: 38,927,234 (GRCm39) |
S82T |
possibly damaging |
Het |
Cmah |
T |
C |
13: 24,620,612 (GRCm39) |
I282T |
probably damaging |
Het |
Cog8 |
A |
G |
8: 107,779,131 (GRCm39) |
I382T |
probably benign |
Het |
Dhrs7c |
G |
T |
11: 67,700,722 (GRCm39) |
|
probably null |
Het |
Dhrs9 |
T |
A |
2: 69,223,502 (GRCm39) |
D83E |
probably damaging |
Het |
Dmac2l |
A |
T |
12: 69,788,562 (GRCm39) |
N154Y |
probably benign |
Het |
Dmgdh |
G |
A |
13: 93,852,043 (GRCm39) |
G624E |
probably damaging |
Het |
Dnajc30 |
C |
A |
5: 135,093,569 (GRCm39) |
F155L |
probably damaging |
Het |
Drc7 |
A |
C |
8: 95,800,778 (GRCm39) |
K600T |
probably damaging |
Het |
Efhb |
A |
C |
17: 53,707,928 (GRCm39) |
I745S |
probably damaging |
Het |
Elp1 |
ACTTCTTCTTCTTCTTCTTCTTC |
ACTTCTTCTTCTTCTTCTTC |
4: 56,781,176 (GRCm39) |
|
probably benign |
Het |
Fasn |
T |
A |
11: 120,701,291 (GRCm39) |
K1988* |
probably null |
Het |
Gad2 |
T |
C |
2: 22,525,035 (GRCm39) |
L273P |
probably damaging |
Het |
Gm45861 |
A |
T |
8: 28,032,536 (GRCm39) |
K887* |
probably null |
Het |
Gm45861 |
A |
T |
8: 28,032,537 (GRCm39) |
K887I |
unknown |
Het |
Gm9195 |
A |
G |
14: 72,718,221 (GRCm39) |
Y152H |
probably damaging |
Het |
Grip1 |
G |
A |
10: 119,781,061 (GRCm39) |
D237N |
probably damaging |
Het |
Hamp |
A |
C |
7: 30,641,961 (GRCm39) |
C65G |
possibly damaging |
Het |
Hes3 |
A |
G |
4: 152,372,581 (GRCm39) |
|
probably benign |
Het |
Hgh1 |
T |
C |
15: 76,254,650 (GRCm39) |
I342T |
probably damaging |
Het |
Hlcs |
T |
A |
16: 94,069,023 (GRCm39) |
K66* |
probably null |
Het |
Ift80 |
A |
T |
3: 68,898,277 (GRCm39) |
C19* |
probably null |
Het |
Kbtbd12 |
C |
T |
6: 88,595,650 (GRCm39) |
C60Y |
probably damaging |
Het |
Kdm4c |
T |
A |
4: 74,263,804 (GRCm39) |
V696E |
probably benign |
Het |
Lect2 |
A |
G |
13: 56,690,803 (GRCm39) |
I117T |
unknown |
Het |
Lipn |
T |
A |
19: 34,054,390 (GRCm39) |
Y209* |
probably null |
Het |
Lpin3 |
G |
A |
2: 160,740,627 (GRCm39) |
V391I |
probably benign |
Het |
Mocs2 |
A |
T |
13: 114,961,143 (GRCm39) |
I47L |
probably benign |
Het |
Mogs |
T |
A |
6: 83,095,488 (GRCm39) |
H768Q |
probably benign |
Het |
Nbeal1 |
T |
A |
1: 60,276,317 (GRCm39) |
I686N |
probably damaging |
Het |
Nbeal1 |
T |
A |
1: 60,299,793 (GRCm39) |
C1376* |
probably null |
Het |
Ninl |
A |
G |
2: 150,791,263 (GRCm39) |
Y1087H |
possibly damaging |
Het |
Or10a3 |
A |
G |
7: 108,480,475 (GRCm39) |
F113L |
probably benign |
Het |
Or10ak14 |
A |
G |
4: 118,611,615 (GRCm39) |
V42A |
possibly damaging |
Het |
Or4k5 |
A |
G |
14: 50,385,689 (GRCm39) |
L214S |
probably damaging |
Het |
Or51b6b |
A |
C |
7: 103,309,788 (GRCm39) |
L223R |
probably damaging |
Het |
Or6s1 |
A |
G |
14: 51,308,616 (GRCm39) |
V78A |
possibly damaging |
Het |
Or8k30 |
T |
A |
2: 86,339,369 (GRCm39) |
C189S |
probably damaging |
Het |
Pkn1 |
A |
G |
8: 84,398,363 (GRCm39) |
F768S |
probably damaging |
Het |
Plekha2 |
A |
G |
8: 25,553,957 (GRCm39) |
F82L |
probably damaging |
Het |
Ppie |
T |
C |
4: 123,028,900 (GRCm39) |
E111G |
probably benign |
Het |
Rps6ka5 |
T |
C |
12: 100,547,679 (GRCm39) |
Y277C |
probably damaging |
Het |
Scgb2b12 |
A |
G |
7: 32,026,102 (GRCm39) |
V30A |
probably benign |
Het |
Serac1 |
A |
T |
17: 6,124,476 (GRCm39) |
S16T |
probably benign |
Het |
Sf3a3 |
T |
C |
4: 124,616,693 (GRCm39) |
Y192H |
probably damaging |
Het |
Slc14a1 |
A |
G |
18: 78,145,626 (GRCm39) |
V436A |
probably benign |
Het |
Smc3 |
T |
A |
19: 53,630,329 (GRCm39) |
M1112K |
probably damaging |
Het |
Tnk2 |
G |
A |
16: 32,499,986 (GRCm39) |
G1017E |
probably damaging |
Het |
Tnn |
T |
A |
1: 159,953,947 (GRCm39) |
K603* |
probably null |
Het |
Trpm6 |
T |
C |
19: 18,815,462 (GRCm39) |
S1183P |
possibly damaging |
Het |
Ttn |
A |
T |
2: 76,614,724 (GRCm39) |
V16964E |
possibly damaging |
Het |
Usp17le |
G |
A |
7: 104,417,696 (GRCm39) |
T482I |
probably benign |
Het |
Vmn1r219 |
T |
A |
13: 23,347,525 (GRCm39) |
M238K |
probably damaging |
Het |
Wfs1 |
C |
T |
5: 37,124,516 (GRCm39) |
G792S |
probably benign |
Het |
Xpa |
A |
T |
4: 46,185,612 (GRCm39) |
L122Q |
probably 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 |
|
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 |
R8854:Arhgef10
|
UTSW |
8 |
15,029,798 (GRCm39) |
critical splice acceptor site |
probably null |
|
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'- CAATGGTGTACCCCACAGAC -3'
(R):5'- TCGGATGATGACAGGACTGG -3'
Sequencing Primer
(F):5'- GTGTACCCCACAGACCTGGAC -3'
(R):5'- CTGGAGTAGGCAGGCAGC -3'
|
Posted On |
2019-06-26 |