Incidental Mutation 'IGL03038:Arhgef6'
| ID |
408781 |
| 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 # |
IGL03038
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
X |
| Chromosomal Location |
56276845-56384089 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 56290966 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Isoleucine
at position 262
(V262I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000110383
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000033468]
[ENSMUST00000114735]
[ENSMUST00000176986]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000033468
AA Change: V525I
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000033468
Gene: ENSMUSG00000031133
AA Change: V525I
| 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
AA Change: V262I
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| SMART Domains |
Protein: ENSMUSP00000110383
Gene: ENSMUSG00000031133
AA Change: V262I
| 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 |
unknown
Transcript: ENSMUST00000175900
AA Change: V105I
|
| 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: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acadsb |
T |
C |
7: 131,030,185 (GRCm39) |
Y111H |
probably damaging |
Het |
| Arsk |
C |
A |
13: 76,213,632 (GRCm39) |
|
probably benign |
Het |
| Ces1b |
T |
C |
8: 93,793,680 (GRCm39) |
E303G |
probably benign |
Het |
| Chst9 |
T |
C |
18: 15,628,360 (GRCm39) |
Q55R |
probably benign |
Het |
| Cntnap3 |
A |
T |
13: 64,888,839 (GRCm39) |
D1153E |
possibly damaging |
Het |
| D130043K22Rik |
A |
G |
13: 25,063,602 (GRCm39) |
E681G |
probably damaging |
Het |
| Fhad1 |
T |
C |
4: 141,729,805 (GRCm39) |
E66G |
probably benign |
Het |
| Flii |
T |
C |
11: 60,615,658 (GRCm39) |
T69A |
probably benign |
Het |
| Foxl1 |
A |
C |
8: 121,855,158 (GRCm39) |
E153A |
probably damaging |
Het |
| Gstm3 |
T |
C |
3: 107,873,485 (GRCm39) |
D162G |
possibly damaging |
Het |
| Gtpbp3 |
G |
A |
8: 71,941,947 (GRCm39) |
V96I |
possibly damaging |
Het |
| Insig2 |
G |
A |
1: 121,247,403 (GRCm39) |
T56I |
probably damaging |
Het |
| Kif13a |
A |
G |
13: 46,926,314 (GRCm39) |
L264P |
probably damaging |
Het |
| Lama3 |
T |
G |
18: 12,552,307 (GRCm39) |
C420G |
probably damaging |
Het |
| Lrp2 |
C |
T |
2: 69,305,808 (GRCm39) |
G2918S |
probably damaging |
Het |
| Lrrc8b |
T |
C |
5: 105,629,358 (GRCm39) |
L568P |
probably damaging |
Het |
| Lyl1 |
C |
T |
8: 85,429,300 (GRCm39) |
P3L |
possibly damaging |
Het |
| Malrd1 |
G |
A |
2: 16,132,778 (GRCm39) |
D1900N |
unknown |
Het |
| Mastl |
C |
A |
2: 23,030,627 (GRCm39) |
|
probably benign |
Het |
| Med24 |
T |
G |
11: 98,607,010 (GRCm39) |
T276P |
possibly damaging |
Het |
| Naip1 |
A |
C |
13: 100,573,841 (GRCm39) |
Y239* |
probably null |
Het |
| Nhsl2 |
A |
G |
X: 101,122,491 (GRCm39) |
K765E |
probably damaging |
Het |
| Npy |
A |
G |
6: 49,800,588 (GRCm39) |
N4S |
probably benign |
Het |
| Nsun2 |
A |
G |
13: 69,767,703 (GRCm39) |
D188G |
probably damaging |
Het |
| Or6c88 |
A |
G |
10: 129,406,790 (GRCm39) |
T89A |
probably benign |
Het |
| Pde1a |
C |
A |
2: 79,718,290 (GRCm39) |
|
probably benign |
Het |
| Pik3cb |
G |
A |
9: 98,947,650 (GRCm39) |
A509V |
probably damaging |
Het |
| Pou2f2 |
C |
T |
7: 24,796,577 (GRCm39) |
S315N |
probably damaging |
Het |
| Prdm2 |
A |
C |
4: 142,860,571 (GRCm39) |
S906R |
probably damaging |
Het |
| Prkaca |
C |
A |
8: 84,721,580 (GRCm39) |
Q300K |
probably benign |
Het |
| Prox2 |
T |
C |
12: 85,142,038 (GRCm39) |
D55G |
possibly damaging |
Het |
| Ryr3 |
T |
A |
2: 112,498,465 (GRCm39) |
T3612S |
possibly damaging |
Het |
| S1pr1 |
T |
A |
3: 115,506,343 (GRCm39) |
I84L |
possibly damaging |
Het |
| Slc47a1 |
C |
T |
11: 61,243,918 (GRCm39) |
V384M |
probably benign |
Het |
| Slc6a20b |
T |
C |
9: 123,426,394 (GRCm39) |
N497S |
possibly damaging |
Het |
| Spen |
C |
A |
4: 141,265,550 (GRCm39) |
R3L |
unknown |
Het |
| Stxbp2 |
A |
T |
8: 3,691,971 (GRCm39) |
I538F |
probably benign |
Het |
| Ttll6 |
T |
C |
11: 96,042,786 (GRCm39) |
F444S |
probably damaging |
Het |
| Vwce |
T |
A |
19: 10,624,035 (GRCm39) |
Y309N |
possibly damaging |
Het |
| Vwf |
T |
C |
6: 125,581,120 (GRCm39) |
L586P |
possibly damaging |
Het |
| Wdr35 |
T |
C |
12: 9,024,185 (GRCm39) |
|
probably benign |
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 |
|
IGL02584:Arhgef6
|
APN |
X |
56,291,738 (GRCm39) |
unclassified |
probably benign |
|
|
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 |
2016-08-02 |
Incidental Mutation