Incidental Mutation 'R5169:Arhgef10'
| ID |
397449 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Arhgef10
|
| Ensembl Gene |
ENSMUSG00000071176 |
| Gene Name |
Rho guanine nucleotide exchange factor 10 |
| Synonyms |
6430549H08Rik |
| MMRRC Submission |
042749-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5169 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
14961663-15051085 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 14980051 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 97
(D97G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000106424
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000084207]
[ENSMUST00000110800]
[ENSMUST00000161162]
|
| AlphaFold |
Q8C033 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000084207
AA Change: D97G
PolyPhen 2
Score 0.801 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000081225
Gene: ENSMUSG00000071176
AA Change: D97G
| 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 |
possibly damaging
Transcript: ENSMUST00000110800
AA Change: D97G
PolyPhen 2
Score 0.801 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000106424
Gene: ENSMUSG00000071176
AA Change: D97G
| 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 |
noncoding transcript
Transcript: ENSMUST00000160619
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000161162
AA Change: D97G
PolyPhen 2
Score 0.693 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000125606
Gene: ENSMUSG00000071176
AA Change: D97G
| 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: 99.2%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 94.3%
|
| 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: 62 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb5 |
A |
T |
12: 118,841,552 (GRCm39) |
Y964* |
probably null |
Het |
| Acsbg2 |
T |
C |
17: 57,156,913 (GRCm39) |
K375R |
probably benign |
Het |
| Ago4 |
C |
A |
4: 126,405,520 (GRCm39) |
R415L |
probably benign |
Het |
| Alpk1 |
A |
T |
3: 127,464,750 (GRCm39) |
I1176N |
probably damaging |
Het |
| Arhgap25 |
A |
T |
6: 87,440,252 (GRCm39) |
I465N |
possibly damaging |
Het |
| Cdc37 |
T |
A |
9: 21,052,413 (GRCm39) |
M299L |
probably benign |
Het |
| Ddx54 |
C |
A |
5: 120,761,328 (GRCm39) |
H453Q |
probably damaging |
Het |
| Dip2b |
T |
C |
15: 100,102,994 (GRCm39) |
Y1102H |
probably damaging |
Het |
| Dmpk |
C |
G |
7: 18,821,944 (GRCm39) |
L301V |
probably benign |
Het |
| Dop1a |
T |
C |
9: 86,415,074 (GRCm39) |
F1939L |
probably damaging |
Het |
| Igkv4-80 |
A |
C |
6: 68,993,649 (GRCm39) |
S81A |
probably benign |
Het |
| Ints7 |
T |
C |
1: 191,345,202 (GRCm39) |
F631L |
probably benign |
Het |
| Itih1 |
A |
T |
14: 30,655,403 (GRCm39) |
Y597* |
probably null |
Het |
| Kctd1 |
T |
C |
18: 15,195,822 (GRCm39) |
E267G |
possibly damaging |
Het |
| Lrrc8e |
A |
G |
8: 4,284,329 (GRCm39) |
T185A |
probably benign |
Het |
| Maco1 |
T |
C |
4: 134,555,774 (GRCm39) |
H233R |
probably benign |
Het |
| Masp2 |
T |
C |
4: 148,690,571 (GRCm39) |
I276T |
probably damaging |
Het |
| Med17 |
A |
T |
9: 15,188,900 (GRCm39) |
F122I |
probably benign |
Het |
| Milr1 |
C |
T |
11: 106,645,754 (GRCm39) |
R99* |
probably null |
Het |
| Mpp4 |
T |
C |
1: 59,169,256 (GRCm39) |
|
probably null |
Het |
| Ms4a4d |
C |
T |
19: 11,535,340 (GRCm39) |
P213S |
possibly damaging |
Het |
| Mtcl1 |
T |
C |
17: 66,650,818 (GRCm39) |
N1100S |
probably benign |
Het |
| Myom3 |
T |
C |
4: 135,502,889 (GRCm39) |
I322T |
probably benign |
Het |
| Nav2 |
C |
T |
7: 49,198,231 (GRCm39) |
Q1287* |
probably null |
Het |
| Nr3c2 |
A |
T |
8: 77,635,666 (GRCm39) |
N256Y |
probably damaging |
Het |
| Nrde2 |
A |
G |
12: 100,095,552 (GRCm39) |
|
probably null |
Het |
| Otog |
G |
T |
7: 45,947,572 (GRCm39) |
A2242S |
probably benign |
Het |
| Otx1 |
C |
A |
11: 21,947,037 (GRCm39) |
A91S |
probably damaging |
Het |
| Pcdh18 |
T |
C |
3: 49,710,415 (GRCm39) |
D300G |
possibly damaging |
Het |
| Pcdh8 |
G |
A |
14: 80,005,095 (GRCm39) |
P880S |
probably benign |
Het |
| Pcid2 |
A |
G |
8: 13,129,632 (GRCm39) |
|
probably null |
Het |
| Phkb |
A |
G |
8: 86,623,120 (GRCm39) |
H148R |
probably benign |
Het |
| Pik3r4 |
T |
C |
9: 105,555,360 (GRCm39) |
S1106P |
probably benign |
Het |
| Pnpla7 |
A |
T |
2: 24,940,321 (GRCm39) |
M1067L |
probably benign |
Het |
| Pp2d1 |
C |
A |
17: 53,814,930 (GRCm39) |
G598V |
possibly damaging |
Het |
| Ppm1d |
C |
T |
11: 85,223,196 (GRCm39) |
A267V |
probably damaging |
Het |
| Psg29 |
C |
T |
7: 16,945,578 (GRCm39) |
P383S |
probably damaging |
Het |
| Rc3h2 |
A |
T |
2: 37,295,324 (GRCm39) |
F231I |
probably damaging |
Het |
| Rpl14 |
T |
A |
9: 120,401,254 (GRCm39) |
D32E |
possibly damaging |
Het |
| Rpl32 |
G |
T |
6: 115,783,949 (GRCm39) |
N92K |
probably benign |
Het |
| Rragc |
A |
G |
4: 123,829,457 (GRCm39) |
N391S |
probably damaging |
Het |
| Ryr3 |
C |
T |
2: 112,501,005 (GRCm39) |
E3563K |
possibly damaging |
Het |
| Sh3rf2 |
A |
G |
18: 42,286,126 (GRCm39) |
M508V |
probably benign |
Het |
| Shoc1 |
T |
A |
4: 59,059,618 (GRCm39) |
Y1014F |
possibly damaging |
Het |
| Slc24a3 |
G |
A |
2: 145,482,184 (GRCm39) |
C614Y |
probably benign |
Het |
| Spata31d1b |
T |
C |
13: 59,864,309 (GRCm39) |
S486P |
probably damaging |
Het |
| Spi1 |
A |
T |
2: 90,945,428 (GRCm39) |
K170* |
probably null |
Het |
| Srgn |
C |
A |
10: 62,330,866 (GRCm39) |
D80Y |
probably damaging |
Het |
| St6galnac6 |
A |
G |
2: 32,504,857 (GRCm39) |
K87R |
possibly damaging |
Het |
| Sytl3 |
A |
T |
17: 6,982,945 (GRCm39) |
K134* |
probably null |
Het |
| Szt2 |
T |
C |
4: 118,247,027 (GRCm39) |
T863A |
probably benign |
Het |
| Tcea3 |
A |
T |
4: 135,992,181 (GRCm39) |
|
probably null |
Het |
| Tg |
T |
A |
15: 66,550,629 (GRCm39) |
L253* |
probably null |
Het |
| Timm8a2 |
T |
A |
14: 122,272,138 (GRCm39) |
S14T |
probably benign |
Het |
| Tppp3 |
G |
C |
8: 106,194,501 (GRCm39) |
N166K |
probably benign |
Het |
| Trav2 |
G |
A |
14: 52,804,759 (GRCm39) |
V4M |
probably benign |
Het |
| Trmt5 |
T |
C |
12: 73,329,495 (GRCm39) |
D221G |
probably damaging |
Het |
| Ttc27 |
T |
A |
17: 75,054,690 (GRCm39) |
L332* |
probably null |
Het |
| V1rd19 |
A |
G |
7: 23,703,209 (GRCm39) |
N225S |
possibly damaging |
Het |
| Wdr20rt |
A |
T |
12: 65,274,184 (GRCm39) |
Q448L |
probably damaging |
Het |
| Zc3h7b |
A |
T |
15: 81,657,515 (GRCm39) |
N185I |
probably benign |
Het |
| Zmpste24 |
A |
T |
4: 120,925,914 (GRCm39) |
I351N |
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 |
|
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 |
|
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'- CTCGGATGATGACAGGACTG -3'
Sequencing Primer
(F):5'- GTGTACCCCACAGACCTGGAC -3'
(R):5'- CTGGAGTAGGCAGGCAGC -3'
|
| Posted On |
2016-07-06 |
Incidental Mutation