Incidental Mutation 'R2088:Arhgef10'
| ID |
231588 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Arhgef10
|
| Ensembl Gene |
ENSMUSG00000071176 |
| Gene Name |
Rho guanine nucleotide exchange factor 10 |
| Synonyms |
6430549H08Rik |
| MMRRC Submission |
040093-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R2088 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
14961663-15051085 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 15033898 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 1072
(T1072A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000081225
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000084207]
[ENSMUST00000110800]
[ENSMUST00000163062]
|
| AlphaFold |
Q8C033 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000084207
AA Change: T1072A
PolyPhen 2
Score 0.460 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000081225
Gene: ENSMUSG00000071176
AA Change: T1072A
| 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
AA Change: T1033A
PolyPhen 2
Score 0.382 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000106424
Gene: ENSMUSG00000071176
AA Change: T1033A
| 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
AA Change: T715A
PolyPhen 2
Score 0.230 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000125526
Gene: ENSMUSG00000071176
AA Change: T715A
| 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 |
|
| Meta Mutation Damage Score |
0.2463 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.2%
|
| Validation Efficiency |
97% (66/68) |
| 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: 64 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ankk1 |
T |
C |
9: 49,333,265 (GRCm39) |
|
probably benign |
Het |
| Ano5 |
T |
A |
7: 51,237,454 (GRCm39) |
N759K |
possibly damaging |
Het |
| BC107364 |
T |
C |
3: 96,341,745 (GRCm39) |
T93A |
unknown |
Het |
| Canx |
C |
T |
11: 50,201,217 (GRCm39) |
E97K |
possibly damaging |
Het |
| Casp8ap2 |
T |
C |
4: 32,631,126 (GRCm39) |
L62P |
probably damaging |
Het |
| Cbfa2t3 |
C |
T |
8: 123,364,725 (GRCm39) |
|
probably benign |
Het |
| Cmklr2 |
A |
T |
1: 63,222,811 (GRCm39) |
|
probably null |
Het |
| Cmya5 |
A |
T |
13: 93,229,320 (GRCm39) |
S1923T |
probably damaging |
Het |
| Cntnap1 |
T |
A |
11: 101,073,373 (GRCm39) |
I618N |
probably damaging |
Het |
| Cox17 |
C |
G |
16: 38,167,542 (GRCm39) |
P27R |
probably damaging |
Het |
| Ctnna3 |
A |
G |
10: 64,708,986 (GRCm39) |
E675G |
probably damaging |
Het |
| Cul9 |
A |
G |
17: 46,837,575 (GRCm39) |
L990P |
probably damaging |
Het |
| Dab1 |
C |
T |
4: 104,588,948 (GRCm39) |
A524V |
probably benign |
Het |
| Eif2d |
T |
C |
1: 131,092,464 (GRCm39) |
V374A |
probably damaging |
Het |
| Fhdc1 |
T |
C |
3: 84,382,033 (GRCm39) |
|
probably benign |
Het |
| Fryl |
T |
A |
5: 73,222,804 (GRCm39) |
I1926F |
probably benign |
Het |
| Galnt4 |
A |
G |
10: 98,945,046 (GRCm39) |
D257G |
probably damaging |
Het |
| Gatm |
A |
G |
2: 122,428,629 (GRCm39) |
V344A |
probably benign |
Het |
| Gli1 |
T |
G |
10: 127,167,369 (GRCm39) |
Y628S |
probably damaging |
Het |
| Gsdmc3 |
A |
C |
15: 63,732,063 (GRCm39) |
|
probably null |
Het |
| Hap1 |
T |
C |
11: 100,246,828 (GRCm39) |
T26A |
probably benign |
Het |
| Helz2 |
C |
T |
2: 180,876,895 (GRCm39) |
G1200S |
probably benign |
Het |
| Insyn1 |
T |
C |
9: 58,406,288 (GRCm39) |
F66S |
probably damaging |
Het |
| Iqgap2 |
C |
T |
13: 96,028,171 (GRCm39) |
|
probably null |
Het |
| Itga3 |
T |
A |
11: 94,943,320 (GRCm39) |
I895F |
probably benign |
Het |
| Klhl33 |
A |
T |
14: 51,130,230 (GRCm39) |
C421* |
probably null |
Het |
| Klra2 |
T |
C |
6: 131,219,789 (GRCm39) |
T131A |
probably damaging |
Het |
| Krt14 |
T |
C |
11: 100,094,949 (GRCm39) |
E426G |
possibly damaging |
Het |
| Limd2 |
A |
G |
11: 106,049,568 (GRCm39) |
F107L |
probably damaging |
Het |
| Lipo4 |
A |
T |
19: 33,477,469 (GRCm39) |
N318K |
possibly damaging |
Het |
| Mab21l2 |
T |
G |
3: 86,454,316 (GRCm39) |
D228A |
probably damaging |
Het |
| Moxd2 |
G |
A |
6: 40,861,901 (GRCm39) |
H224Y |
probably damaging |
Het |
| Mpp4 |
T |
C |
1: 59,162,624 (GRCm39) |
Y521C |
possibly damaging |
Het |
| Msto1 |
C |
T |
3: 88,818,297 (GRCm39) |
A317T |
probably damaging |
Het |
| Mtmr4 |
T |
C |
11: 87,501,793 (GRCm39) |
S559P |
probably damaging |
Het |
| Muc4 |
T |
A |
16: 32,576,783 (GRCm39) |
H2094Q |
unknown |
Het |
| Ndufa11 |
C |
A |
17: 57,024,922 (GRCm39) |
T28K |
probably damaging |
Het |
| Or2b4 |
A |
G |
17: 38,116,686 (GRCm39) |
T217A |
probably benign |
Het |
| Or4f4b |
G |
T |
2: 111,314,623 (GRCm39) |
A283S |
probably damaging |
Het |
| Orai2 |
C |
A |
5: 136,179,610 (GRCm39) |
R155L |
probably damaging |
Het |
| Pde4c |
A |
G |
8: 71,202,005 (GRCm39) |
D582G |
possibly damaging |
Het |
| Pde4dip |
T |
C |
3: 97,661,749 (GRCm39) |
E609G |
probably null |
Het |
| Prune2 |
A |
G |
19: 17,097,109 (GRCm39) |
D871G |
possibly damaging |
Het |
| Rbpms2 |
T |
A |
9: 65,538,121 (GRCm39) |
L4Q |
probably damaging |
Het |
| Rhbg |
T |
C |
3: 88,154,765 (GRCm39) |
Y213C |
probably damaging |
Het |
| Rplp0 |
T |
A |
5: 115,700,562 (GRCm39) |
N243K |
possibly damaging |
Het |
| Rtp4 |
A |
T |
16: 23,431,963 (GRCm39) |
H165L |
possibly damaging |
Het |
| Ryr2 |
C |
A |
13: 11,677,115 (GRCm39) |
M3245I |
probably benign |
Het |
| Sh2b2 |
T |
A |
5: 136,260,968 (GRCm39) |
M83L |
possibly damaging |
Het |
| Simc1 |
T |
C |
13: 54,689,347 (GRCm39) |
I284T |
probably damaging |
Het |
| Skp2 |
C |
A |
15: 9,113,786 (GRCm39) |
G376C |
probably damaging |
Het |
| Slc46a1 |
T |
C |
11: 78,359,471 (GRCm39) |
S368P |
possibly damaging |
Het |
| St6galnac1 |
A |
G |
11: 116,659,933 (GRCm39) |
S127P |
probably benign |
Het |
| Tatdn3 |
A |
G |
1: 190,785,073 (GRCm39) |
I192T |
possibly damaging |
Het |
| Tmem25 |
C |
A |
9: 44,707,383 (GRCm39) |
V239F |
possibly damaging |
Het |
| Tprkb |
A |
C |
6: 85,909,922 (GRCm39) |
|
probably benign |
Het |
| Trappc10 |
A |
G |
10: 78,032,168 (GRCm39) |
V1040A |
probably benign |
Het |
| Txnrd1 |
G |
A |
10: 82,719,744 (GRCm39) |
|
probably benign |
Het |
| Uhrf1 |
A |
T |
17: 56,625,089 (GRCm39) |
K544M |
probably damaging |
Het |
| Unc80 |
T |
A |
1: 66,629,386 (GRCm39) |
H1294Q |
possibly damaging |
Het |
| Uspl1 |
T |
A |
5: 149,146,560 (GRCm39) |
I437K |
probably damaging |
Het |
| Vmn1r232 |
A |
T |
17: 21,133,999 (GRCm39) |
N200K |
possibly damaging |
Het |
| Vmn2r19 |
A |
T |
6: 123,312,795 (GRCm39) |
I622F |
probably damaging |
Het |
| Znfx1 |
A |
G |
2: 166,897,730 (GRCm39) |
F398S |
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 |
|
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 |
|
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'- TGCTACAGGGCTGGTTCTAG -3'
(R):5'- AACTATGCCCCAGAGGTGTG -3'
Sequencing Primer
(F):5'- ACACTCTTTGTCGGATGCAAG -3'
(R):5'- CTATGCCCCAGAGGTGTGGTTAG -3'
|
| Posted On |
2014-09-18 |
Incidental Mutation