Incidental Mutation 'IGL02584:Arhgef6'
| ID |
299496 |
| 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 # |
IGL02584
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
X |
| Chromosomal Location |
56276845-56384089 bp(-) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
T to G
at 56291738 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000134851
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000033468]
[ENSMUST00000114735]
[ENSMUST00000176986]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
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 benign
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 |
probably benign
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: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1110057P08Rik |
A |
T |
16: 88,971,744 (GRCm39) |
Y22F |
unknown |
Het |
| Adgrb3 |
A |
G |
1: 25,544,065 (GRCm39) |
L312P |
probably damaging |
Het |
| Anpep |
T |
C |
7: 79,475,141 (GRCm39) |
|
probably benign |
Het |
| Catsperg1 |
T |
C |
7: 28,884,146 (GRCm39) |
D989G |
probably damaging |
Het |
| Ccnj |
T |
A |
19: 40,833,185 (GRCm39) |
V121E |
probably benign |
Het |
| Cdyl |
T |
C |
13: 35,867,769 (GRCm39) |
L15P |
probably benign |
Het |
| Cnrip1 |
T |
A |
11: 17,028,536 (GRCm39) |
M156K |
probably damaging |
Het |
| Cryga |
T |
A |
1: 65,142,175 (GRCm39) |
S73C |
probably benign |
Het |
| Dennd4a |
A |
G |
9: 64,758,580 (GRCm39) |
T240A |
probably damaging |
Het |
| Eml6 |
A |
G |
11: 29,699,387 (GRCm39) |
S1789P |
probably damaging |
Het |
| Esr2 |
A |
T |
12: 76,192,036 (GRCm39) |
W331R |
probably damaging |
Het |
| Fbh1 |
A |
T |
2: 11,764,769 (GRCm39) |
L455H |
probably benign |
Het |
| Gm21698 |
T |
A |
5: 26,192,391 (GRCm39) |
E65V |
probably damaging |
Het |
| Grm8 |
G |
T |
6: 27,762,438 (GRCm39) |
F262L |
probably benign |
Het |
| Haus3 |
A |
T |
5: 34,323,602 (GRCm39) |
L336* |
probably null |
Het |
| Hfm1 |
A |
C |
5: 107,026,528 (GRCm39) |
|
probably null |
Het |
| Hgfac |
T |
C |
5: 35,201,305 (GRCm39) |
|
probably benign |
Het |
| Ighv1-22 |
T |
C |
12: 114,709,942 (GRCm39) |
E101G |
probably benign |
Het |
| Impg2 |
A |
G |
16: 56,085,374 (GRCm39) |
E1027G |
probably damaging |
Het |
| Lypd5 |
A |
T |
7: 24,052,993 (GRCm39) |
T217S |
possibly damaging |
Het |
| Myrf |
A |
G |
19: 10,189,587 (GRCm39) |
|
probably benign |
Het |
| Mzf1 |
A |
G |
7: 12,786,744 (GRCm39) |
W109R |
probably damaging |
Het |
| Ndufb4 |
A |
T |
16: 37,469,532 (GRCm39) |
|
probably benign |
Het |
| Ntn1 |
A |
G |
11: 68,168,356 (GRCm39) |
V367A |
probably damaging |
Het |
| Oprk1 |
A |
G |
1: 5,668,827 (GRCm39) |
K91R |
probably damaging |
Het |
| Or5m11b |
C |
T |
2: 85,806,219 (GRCm39) |
L211F |
probably damaging |
Het |
| Pdlim1 |
A |
G |
19: 40,231,844 (GRCm39) |
|
probably null |
Het |
| Ppp1r11 |
G |
A |
17: 37,260,781 (GRCm39) |
R61C |
probably damaging |
Het |
| Racgap1 |
T |
C |
15: 99,521,515 (GRCm39) |
D547G |
probably benign |
Het |
| Sema4b |
A |
G |
7: 79,874,736 (GRCm39) |
T709A |
probably benign |
Het |
| Srrm1 |
G |
A |
4: 135,052,415 (GRCm39) |
P658L |
unknown |
Het |
| Supt5 |
T |
C |
7: 28,025,592 (GRCm39) |
H218R |
probably benign |
Het |
| Tmem132c |
T |
A |
5: 127,582,063 (GRCm39) |
I426N |
probably damaging |
Het |
| Tpcn1 |
T |
C |
5: 120,677,097 (GRCm39) |
N696S |
probably damaging |
Het |
| Ttn |
T |
C |
2: 76,566,506 (GRCm39) |
N26383S |
possibly damaging |
Het |
| Vax2 |
A |
G |
6: 83,688,495 (GRCm39) |
T73A |
probably benign |
Het |
| Zfp518a |
G |
A |
19: 40,903,061 (GRCm39) |
G997R |
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 |
|
|
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 |
|
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 |
2015-04-16 |
Incidental Mutation