Incidental Mutation 'IGL02049:Arhgef6'
| ID |
185017 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Arhgef6
|
| Ensembl Gene |
ENSMUSG00000031133 |
| Gene Name |
Rac/Cdc42 guanine nucleotide exchange factor 6 |
| Synonyms |
1600028C08Rik, 4930592P22Rik, alpha-PIX, 1700038J06Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL02049
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
X |
| Chromosomal Location |
56276845-56384089 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 56321271 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Leucine
at position 320
(Q320L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000033468
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000033468]
[ENSMUST00000114735]
[ENSMUST00000176986]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000033468
AA Change: Q320L
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000033468
Gene: ENSMUSG00000031133
AA Change: Q320L
| Domain | Start | End | E-Value | Type |
|---|
|
CH
|
27 |
130 |
2.71e-21 |
SMART |
|
Pfam:RhoGEF67_u1
|
138 |
183 |
4.4e-11 |
PFAM |
|
SH3
|
186 |
241 |
7.33e-24 |
SMART |
|
RhoGEF
|
268 |
443 |
1.04e-47 |
SMART |
|
PH
|
473 |
573 |
1.02e-10 |
SMART |
|
Pfam:RhoGEF67_u2
|
593 |
701 |
4e-65 |
PFAM |
|
Pfam:betaPIX_CC
|
700 |
788 |
5.1e-41 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000114735
AA Change: Q57L
PolyPhen 2
Score 0.867 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000110383
Gene: ENSMUSG00000031133
AA Change: Q57L
| Domain | Start | End | E-Value | Type |
|---|
|
RhoGEF
|
5 |
180 |
1.04e-47 |
SMART |
|
PH
|
210 |
310 |
1.02e-10 |
SMART |
|
low complexity region
|
311 |
336 |
N/A |
INTRINSIC |
|
low complexity region
|
396 |
407 |
N/A |
INTRINSIC |
|
PDB:3L4F|C
|
418 |
476 |
2e-17 |
PDB |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134028
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000176986
AA Change: Q143L
PolyPhen 2
Score 0.860 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000134851
Gene: ENSMUSG00000031133
AA Change: Q143L
| Domain | Start | End | E-Value | Type |
|---|
|
SH3
|
9 |
64 |
7.33e-24 |
SMART |
|
RhoGEF
|
91 |
266 |
1.04e-47 |
SMART |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Rho GTPases play a fundamental role in numerous cellular processes that are initiated by extracellular stimuli that work through G protein coupled receptors. The encoded protein belongs to a family of cytoplasmic proteins that activate the Ras-like family of Rho proteins by exchanging bound GDP for GTP. It may form a complex with G proteins and stimulate Rho-dependent signals. This protein is activated by PI3-kinase. Mutations in this gene can cause X-chromosomal non-specific mental retardation. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a truncated allele exhibit decreased mature lymphocyte cell numbers, decreased B and T cell proliferation, and defective humeral response. Mice homozygous for a reporter allele exhibit abnormal dendrite morphology and synaptic plasticity and cognitive defects. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930568D16Rik |
T |
A |
2: 35,254,801 (GRCm39) |
R27S |
probably benign |
Het |
| 4930596D02Rik |
C |
A |
14: 35,533,535 (GRCm39) |
V78L |
probably benign |
Het |
| Abca3 |
T |
A |
17: 24,595,704 (GRCm39) |
C352* |
probably null |
Het |
| Acat3 |
T |
A |
17: 13,144,207 (GRCm39) |
Y324F |
probably benign |
Het |
| Adamts8 |
T |
C |
9: 30,862,650 (GRCm39) |
V285A |
probably damaging |
Het |
| Anpep |
A |
G |
7: 79,484,929 (GRCm39) |
I652T |
probably damaging |
Het |
| Armh1 |
A |
T |
4: 117,094,860 (GRCm39) |
I60K |
probably benign |
Het |
| Atp11b |
T |
C |
3: 35,854,642 (GRCm39) |
V145A |
probably damaging |
Het |
| Cacna1c |
T |
C |
6: 118,580,880 (GRCm39) |
T1674A |
probably benign |
Het |
| Capn2 |
A |
T |
1: 182,301,519 (GRCm39) |
|
probably benign |
Het |
| Cfd |
A |
G |
10: 79,726,776 (GRCm39) |
Y6C |
probably benign |
Het |
| Cps1 |
A |
G |
1: 67,183,113 (GRCm39) |
K157R |
possibly damaging |
Het |
| Csmd3 |
T |
A |
15: 47,864,870 (GRCm39) |
R786S |
possibly damaging |
Het |
| Dna2 |
A |
T |
10: 62,792,815 (GRCm39) |
I277L |
probably damaging |
Het |
| Gm5168 |
A |
T |
X: 25,999,005 (GRCm39) |
D50E |
probably damaging |
Het |
| Grik4 |
T |
A |
9: 42,455,049 (GRCm39) |
|
probably benign |
Het |
| Ift56 |
A |
G |
6: 38,402,067 (GRCm39) |
T520A |
probably benign |
Het |
| Iqgap2 |
A |
G |
13: 95,811,913 (GRCm39) |
|
probably benign |
Het |
| Klk10 |
A |
T |
7: 43,433,882 (GRCm39) |
|
probably benign |
Het |
| Kng1 |
A |
G |
16: 22,892,187 (GRCm39) |
Y250C |
probably damaging |
Het |
| Las1l |
A |
T |
X: 94,981,059 (GRCm39) |
M690K |
probably benign |
Het |
| Mug1 |
T |
A |
6: 121,848,295 (GRCm39) |
M673K |
probably benign |
Het |
| Myh9 |
T |
C |
15: 77,654,070 (GRCm39) |
H1245R |
probably benign |
Het |
| Oprk1 |
C |
T |
1: 5,669,067 (GRCm39) |
T171I |
probably damaging |
Het |
| Pgm5 |
A |
T |
19: 24,801,782 (GRCm39) |
S149T |
probably benign |
Het |
| Pla2g4a |
T |
C |
1: 149,736,847 (GRCm39) |
N424S |
probably benign |
Het |
| Plec |
A |
T |
15: 76,063,149 (GRCm39) |
L2334Q |
probably damaging |
Het |
| Pus7l |
G |
A |
15: 94,438,059 (GRCm39) |
S262F |
probably damaging |
Het |
| Rps24 |
C |
A |
14: 24,541,823 (GRCm39) |
D3E |
probably benign |
Het |
| Rxfp1 |
T |
C |
3: 79,557,799 (GRCm39) |
N560D |
probably damaging |
Het |
| Sema3c |
C |
T |
5: 17,926,923 (GRCm39) |
|
probably benign |
Het |
| Slc47a2 |
A |
G |
11: 61,233,365 (GRCm39) |
F55S |
probably damaging |
Het |
| Slco1a6 |
A |
G |
6: 142,047,309 (GRCm39) |
|
probably benign |
Het |
| Taf4b |
A |
T |
18: 14,963,196 (GRCm39) |
E645D |
probably benign |
Het |
| Tmem161a |
T |
A |
8: 70,631,624 (GRCm39) |
V158E |
probably damaging |
Het |
| Trav13-2 |
A |
G |
14: 53,872,604 (GRCm39) |
S27G |
possibly damaging |
Het |
| Trav13-2 |
G |
T |
14: 53,872,603 (GRCm39) |
Q26H |
probably damaging |
Het |
| Trav13-2 |
A |
T |
14: 53,872,602 (GRCm39) |
Q26L |
possibly damaging |
Het |
| Vmn2r108 |
T |
A |
17: 20,691,608 (GRCm39) |
H305L |
probably benign |
Het |
| Zfp263 |
A |
G |
16: 3,562,482 (GRCm39) |
I82V |
probably damaging |
Het |
|
| Other mutations in Arhgef6 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00577:Arhgef6
|
APN |
X |
56,290,992 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
IGL02502:Arhgef6
|
APN |
X |
56,325,623 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02584:Arhgef6
|
APN |
X |
56,291,738 (GRCm39) |
unclassified |
probably benign |
|
|
IGL03038:Arhgef6
|
APN |
X |
56,290,966 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL03294:Arhgef6
|
APN |
X |
56,382,338 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R1382:Arhgef6
|
UTSW |
X |
56,383,922 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1385:Arhgef6
|
UTSW |
X |
56,383,922 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1388:Arhgef6
|
UTSW |
X |
56,383,922 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1432:Arhgef6
|
UTSW |
X |
56,383,922 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1500:Arhgef6
|
UTSW |
X |
56,383,922 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1503:Arhgef6
|
UTSW |
X |
56,383,922 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1556:Arhgef6
|
UTSW |
X |
56,383,922 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1749:Arhgef6
|
UTSW |
X |
56,383,922 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1764:Arhgef6
|
UTSW |
X |
56,383,922 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1767:Arhgef6
|
UTSW |
X |
56,383,922 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2010:Arhgef6
|
UTSW |
X |
56,344,865 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R4928:Arhgef6
|
UTSW |
X |
56,280,238 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Arhgef6
|
UTSW |
X |
56,349,984 (GRCm39) |
start gained |
probably benign |
|
|
| Posted On |
2014-05-07 |
Incidental Mutation