Incidental Mutation 'IGL00577:Arhgef6'
ID |
332685 |
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 # |
IGL00577
|
Quality Score |
|
Status
|
|
Chromosome |
X |
Chromosomal Location |
56276845-56384089 bp(-) (GRCm39) |
Type of Mutation |
critical splice acceptor site |
DNA Base Change (assembly) |
T to A
at 56290992 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000033468]
[ENSMUST00000114735]
[ENSMUST00000176986]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably null
Transcript: ENSMUST00000033468
|
SMART Domains |
Protein: ENSMUSP00000033468 Gene: ENSMUSG00000031133
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 |
probably null
Transcript: ENSMUST00000114735
|
SMART Domains |
Protein: ENSMUSP00000110383 Gene: ENSMUSG00000031133
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: ENSMUST00000151768
|
Predicted Effect |
probably null
Transcript: ENSMUST00000175900
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000176986
|
SMART Domains |
Protein: ENSMUSP00000134851 Gene: ENSMUSG00000031133
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: 25 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ang6 |
T |
A |
14: 44,239,458 (GRCm39) |
Y90F |
probably benign |
Het |
Ccdc88a |
A |
G |
11: 29,374,772 (GRCm39) |
E115G |
probably damaging |
Het |
Ceacam12 |
T |
A |
7: 17,801,186 (GRCm39) |
V55E |
probably damaging |
Het |
Depdc1a |
A |
T |
3: 159,228,375 (GRCm39) |
R376* |
probably null |
Het |
Dop1a |
A |
T |
9: 86,402,999 (GRCm39) |
I1398F |
probably damaging |
Het |
Eif2s1 |
T |
G |
12: 78,913,420 (GRCm39) |
N40K |
possibly damaging |
Het |
Epb41 |
T |
A |
4: 131,702,042 (GRCm39) |
H531L |
probably benign |
Het |
Frrs1 |
T |
A |
3: 116,696,049 (GRCm39) |
W523R |
probably damaging |
Het |
Gpatch8 |
T |
C |
11: 102,369,704 (GRCm39) |
D1278G |
probably damaging |
Het |
Mybpc1 |
C |
T |
10: 88,372,246 (GRCm39) |
A795T |
probably damaging |
Het |
Nrdc |
T |
C |
4: 108,903,884 (GRCm39) |
|
probably benign |
Het |
Os9 |
C |
T |
10: 126,933,845 (GRCm39) |
R524K |
probably benign |
Het |
Pisd |
T |
C |
5: 32,895,756 (GRCm39) |
I441V |
probably benign |
Het |
Plekha5 |
T |
A |
6: 140,515,822 (GRCm39) |
|
probably benign |
Het |
Prnp |
A |
G |
2: 131,779,031 (GRCm39) |
R228G |
probably benign |
Het |
Prrc2c |
G |
A |
1: 162,525,685 (GRCm39) |
P307L |
unknown |
Het |
Prss1 |
T |
C |
6: 41,439,645 (GRCm39) |
V126A |
possibly damaging |
Het |
Ptpn21 |
G |
A |
12: 98,699,860 (GRCm39) |
S18F |
probably damaging |
Het |
Setdb1 |
T |
C |
3: 95,245,888 (GRCm39) |
D678G |
probably damaging |
Het |
Sltm |
G |
T |
9: 70,486,624 (GRCm39) |
V430L |
probably damaging |
Het |
Sphkap |
A |
G |
1: 83,256,565 (GRCm39) |
S395P |
probably damaging |
Het |
Tas2r119 |
T |
C |
15: 32,177,599 (GRCm39) |
I55T |
probably damaging |
Het |
Tmc3 |
A |
C |
7: 83,252,682 (GRCm39) |
E361A |
probably null |
Het |
Uggt2 |
A |
T |
14: 119,272,312 (GRCm39) |
S922T |
possibly damaging |
Het |
Znhit1 |
A |
T |
5: 137,011,437 (GRCm39) |
Y125* |
probably null |
Het |
|
Other mutations in Arhgef6 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02049:Arhgef6
|
APN |
X |
56,321,271 (GRCm39) |
missense |
probably damaging |
0.99 |
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 |
2015-08-05 |