Incidental Mutation 'R7068:Arhgef10'
| ID |
548689 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Arhgef10
|
| Ensembl Gene |
ENSMUSG00000071176 |
| Gene Name |
Rho guanine nucleotide exchange factor 10 |
| Synonyms |
6430549H08Rik |
| MMRRC Submission |
045164-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7068 (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 C
at 15008639 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 546
(F546L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000081225
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000084207]
[ENSMUST00000110800]
[ENSMUST00000161162]
[ENSMUST00000163062]
|
| AlphaFold |
Q8C033 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000084207
AA Change: F546L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000081225
Gene: ENSMUSG00000071176
AA Change: F546L
| 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: F507L
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000106424
Gene: ENSMUSG00000071176
AA Change: F507L
| 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 |
possibly damaging
Transcript: ENSMUST00000161162
AA Change: F545L
PolyPhen 2
Score 0.865 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000125606
Gene: ENSMUSG00000071176
AA Change: F545L
| 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 |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000163062
AA Change: F218L
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000125526
Gene: ENSMUSG00000071176
AA Change: F218L
| 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: 99.6%
- 20x: 98.9%
|
| 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: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acsm1 |
A |
G |
7: 119,221,803 (GRCm39) |
H24R |
probably benign |
Het |
| Ago2 |
A |
T |
15: 73,018,299 (GRCm39) |
F46L |
probably damaging |
Het |
| Amd1 |
A |
G |
10: 40,166,508 (GRCm39) |
F123L |
probably benign |
Het |
| Asic2 |
G |
A |
11: 81,043,081 (GRCm39) |
H71Y |
probably benign |
Het |
| Asphd1 |
A |
G |
7: 126,547,850 (GRCm39) |
V151A |
probably benign |
Het |
| Best3 |
T |
C |
10: 116,824,543 (GRCm39) |
V3A |
probably damaging |
Het |
| C4b |
A |
G |
17: 34,952,451 (GRCm39) |
L1196P |
probably damaging |
Het |
| Cd22 |
A |
G |
7: 30,577,504 (GRCm39) |
V3A |
probably benign |
Het |
| Cdkl3 |
T |
C |
11: 51,902,154 (GRCm39) |
|
probably null |
Het |
| Clcnka |
A |
T |
4: 141,114,421 (GRCm39) |
V631E |
probably damaging |
Het |
| Cmya5 |
A |
G |
13: 93,229,205 (GRCm39) |
V1961A |
possibly damaging |
Het |
| Dnah14 |
A |
G |
1: 181,597,355 (GRCm39) |
E3559G |
probably benign |
Het |
| Emsy |
A |
T |
7: 98,259,968 (GRCm39) |
D39E |
probably benign |
Het |
| Fbxl16 |
G |
T |
17: 26,038,485 (GRCm39) |
V477F |
possibly damaging |
Het |
| Flt1 |
A |
T |
5: 147,610,444 (GRCm39) |
I393N |
probably damaging |
Het |
| Gabra4 |
A |
T |
5: 71,729,402 (GRCm39) |
N433K |
probably benign |
Het |
| Gatad1 |
T |
C |
5: 3,693,540 (GRCm39) |
R210G |
probably benign |
Het |
| Ghsr |
T |
A |
3: 27,425,986 (GRCm39) |
V14D |
probably benign |
Het |
| Glb1l |
A |
G |
1: 75,179,381 (GRCm39) |
Y183H |
probably damaging |
Het |
| Hycc1 |
A |
G |
5: 24,169,793 (GRCm39) |
S519P |
possibly damaging |
Het |
| Ighv3-4 |
T |
C |
12: 114,217,274 (GRCm39) |
T106A |
probably damaging |
Het |
| Ik |
T |
G |
18: 36,888,518 (GRCm39) |
F439V |
possibly damaging |
Het |
| Itih5 |
T |
C |
2: 10,254,115 (GRCm39) |
S789P |
probably damaging |
Het |
| Kcnj8 |
T |
C |
6: 142,511,965 (GRCm39) |
D214G |
probably damaging |
Het |
| Kdm5a |
C |
A |
6: 120,407,176 (GRCm39) |
H1464N |
probably benign |
Het |
| Klb |
A |
T |
5: 65,536,683 (GRCm39) |
Y671F |
probably damaging |
Het |
| Kremen2 |
C |
A |
17: 23,960,859 (GRCm39) |
R421L |
possibly damaging |
Het |
| Mroh9 |
T |
A |
1: 162,866,750 (GRCm39) |
D662V |
probably damaging |
Het |
| Mtmr12 |
T |
G |
15: 12,257,756 (GRCm39) |
M278R |
probably null |
Het |
| Ndufa8 |
T |
C |
2: 35,934,447 (GRCm39) |
M44V |
possibly damaging |
Het |
| Nedd4l |
A |
T |
18: 65,338,722 (GRCm39) |
R695S |
probably damaging |
Het |
| Nuf2 |
G |
A |
1: 169,349,988 (GRCm39) |
P97S |
probably damaging |
Het |
| Or14c46 |
A |
C |
7: 85,918,745 (GRCm39) |
L84R |
probably damaging |
Het |
| Or2ah1 |
T |
C |
2: 85,653,396 (GRCm39) |
V27A |
probably benign |
Het |
| Or5ac24 |
T |
C |
16: 59,165,567 (GRCm39) |
T166A |
possibly damaging |
Het |
| P4ha2 |
A |
G |
11: 54,001,820 (GRCm39) |
T33A |
probably benign |
Het |
| Parp1 |
A |
G |
1: 180,416,233 (GRCm39) |
H544R |
probably damaging |
Het |
| Plec |
A |
G |
15: 76,061,969 (GRCm39) |
L2678P |
probably damaging |
Het |
| Rad1 |
T |
A |
15: 10,490,379 (GRCm39) |
Y85* |
probably null |
Het |
| Sema6d |
A |
G |
2: 124,499,741 (GRCm39) |
I309V |
probably benign |
Het |
| Skint2 |
T |
C |
4: 112,481,548 (GRCm39) |
V137A |
probably damaging |
Het |
| Slc23a3 |
T |
C |
1: 75,109,877 (GRCm39) |
N130S |
probably benign |
Het |
| Slc35f1 |
T |
C |
10: 52,938,596 (GRCm39) |
F176S |
probably damaging |
Het |
| Slc44a2 |
T |
A |
9: 21,232,144 (GRCm39) |
Y10N |
probably benign |
Het |
| Smarcc1 |
A |
G |
9: 110,014,952 (GRCm39) |
T506A |
probably damaging |
Het |
| Smchd1 |
A |
T |
17: 71,694,087 (GRCm39) |
S1219R |
probably benign |
Het |
| Smco1 |
A |
G |
16: 32,092,929 (GRCm39) |
N200S |
probably benign |
Het |
| Srcap |
A |
G |
7: 127,141,115 (GRCm39) |
T1571A |
probably benign |
Het |
| Strip2 |
C |
T |
6: 29,932,207 (GRCm39) |
T459I |
probably benign |
Het |
| Tarbp1 |
C |
T |
8: 127,153,773 (GRCm39) |
A1560T |
probably damaging |
Het |
| Tcl1b1 |
T |
A |
12: 105,125,952 (GRCm39) |
|
probably benign |
Het |
| Tdrd5 |
T |
C |
1: 156,111,841 (GRCm39) |
E436G |
probably damaging |
Het |
| Trim31 |
T |
A |
17: 37,209,408 (GRCm39) |
C55S |
probably damaging |
Het |
| Tsr1 |
G |
T |
11: 74,794,745 (GRCm39) |
E467* |
probably null |
Het |
| Tulp4 |
T |
A |
17: 6,235,564 (GRCm39) |
D178E |
probably damaging |
Het |
| Vmn1r30 |
A |
G |
6: 58,411,995 (GRCm39) |
V279A |
possibly damaging |
Het |
| Vmn2r98 |
A |
G |
17: 19,285,575 (GRCm39) |
R132G |
probably benign |
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 |
|
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 |
|
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'- AAAGTTTCCTCCTGGTAGAGC -3'
(R):5'- TTTGCTTCCCAGAACCAACAAG -3'
Sequencing Primer
(F):5'- GGTGAAGCAGGGGTGTTGAG -3'
(R):5'- TTCCCAGAACCAACAAGGGAGC -3'
|
| Posted On |
2019-05-13 |
Incidental Mutation