Incidental Mutation 'R1388:Arhgef6'
| ID |
162512 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Arhgef6
|
| Ensembl Gene |
ENSMUSG00000031133 |
| Gene Name |
Rac/Cdc42 guanine nucleotide exchange factor 6 |
| Synonyms |
1600028C08Rik, 4930592P22Rik, alpha-PIX, 1700038J06Rik |
| MMRRC Submission |
039450-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1388 (G1)
|
| Quality Score |
222 |
|
Status
|
Validated
|
| Chromosome |
X |
| Chromosomal Location |
56276845-56384089 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 56383922 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Valine
at position 5
(M5V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000033468
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000033468]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000033468
AA Change: M5V
PolyPhen 2
Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
|
| SMART Domains |
Protein: ENSMUSP00000033468
Gene: ENSMUSG00000031133
AA Change: M5V
| 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 |
noncoding transcript
Transcript: ENSMUST00000135098
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 98.9%
- 3x: 97.9%
- 10x: 94.9%
- 20x: 88.1%
|
| Validation Efficiency |
98% (47/48) |
| 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 |
|---|
| Acot3 |
T |
G |
12: 84,105,761 (GRCm39) |
H409Q |
possibly damaging |
Het |
| Adgra1 |
T |
C |
7: 139,453,919 (GRCm39) |
V152A |
probably damaging |
Het |
| Atxn7l3 |
C |
G |
11: 102,183,261 (GRCm39) |
|
probably benign |
Het |
| Ccdc174 |
C |
A |
6: 91,858,225 (GRCm39) |
|
probably null |
Het |
| Ccdc38 |
A |
T |
10: 93,417,702 (GRCm39) |
|
probably benign |
Het |
| Clca4b |
A |
T |
3: 144,622,415 (GRCm39) |
V550D |
probably benign |
Het |
| Dab2ip |
C |
T |
2: 35,611,268 (GRCm39) |
|
probably benign |
Het |
| Gm17661 |
GA |
GAA |
2: 90,917,709 (GRCm38) |
|
noncoding transcript |
Het |
| Gm2959 |
A |
T |
14: 42,235,660 (GRCm39) |
|
noncoding transcript |
Het |
| Gmnc |
A |
G |
16: 26,782,662 (GRCm39) |
L80P |
probably damaging |
Het |
| Gtf2ird1 |
T |
C |
5: 134,424,564 (GRCm39) |
D394G |
probably damaging |
Het |
| Heatr1 |
T |
C |
13: 12,432,328 (GRCm39) |
|
probably benign |
Het |
| Il1a |
T |
C |
2: 129,148,501 (GRCm39) |
S70G |
possibly damaging |
Het |
| Kctd19 |
T |
C |
8: 106,118,683 (GRCm39) |
S293G |
probably null |
Het |
| Klra4 |
T |
C |
6: 130,039,198 (GRCm39) |
|
probably benign |
Het |
| Kplce |
G |
T |
3: 92,776,356 (GRCm39) |
T109K |
probably damaging |
Het |
| Mr1 |
T |
C |
1: 155,008,249 (GRCm39) |
E242G |
probably damaging |
Het |
| Mrnip |
C |
A |
11: 50,087,772 (GRCm39) |
A98E |
probably benign |
Het |
| Mybpc3 |
C |
T |
2: 90,953,219 (GRCm39) |
P155S |
probably benign |
Het |
| Myh14 |
A |
T |
7: 44,314,546 (GRCm39) |
Y126N |
probably damaging |
Het |
| Nrbp1 |
T |
A |
5: 31,403,157 (GRCm39) |
I210N |
probably damaging |
Het |
| Nup58 |
A |
T |
14: 60,482,119 (GRCm39) |
|
probably benign |
Het |
| Or10g9 |
A |
G |
9: 39,911,948 (GRCm39) |
S192P |
probably damaging |
Het |
| Or10j3 |
T |
C |
1: 173,031,445 (GRCm39) |
V174A |
probably benign |
Het |
| Pnisr |
T |
C |
4: 21,862,041 (GRCm39) |
M243T |
possibly damaging |
Het |
| Ptprr |
A |
G |
10: 116,109,657 (GRCm39) |
S633G |
probably benign |
Het |
| Rasip1 |
T |
A |
7: 45,279,656 (GRCm39) |
S300T |
probably damaging |
Het |
| Sbsn |
A |
T |
7: 30,451,576 (GRCm39) |
H197L |
probably benign |
Het |
| Shf |
G |
A |
2: 122,199,163 (GRCm39) |
P51S |
probably damaging |
Het |
| Sim1 |
T |
A |
10: 50,772,090 (GRCm39) |
I33N |
probably damaging |
Het |
| Speg |
A |
G |
1: 75,407,104 (GRCm39) |
D2878G |
probably damaging |
Het |
| Taf2 |
T |
A |
15: 54,900,021 (GRCm39) |
N864I |
probably benign |
Het |
| Tmem43 |
G |
T |
6: 91,455,785 (GRCm39) |
|
probably null |
Het |
| Ttn |
T |
C |
2: 76,542,135 (GRCm39) |
E25290G |
probably damaging |
Het |
| Ush2a |
A |
G |
1: 188,255,515 (GRCm39) |
|
probably benign |
Het |
| Usp53 |
T |
C |
3: 122,751,277 (GRCm39) |
E260G |
probably damaging |
Het |
| Vmn2r12 |
T |
G |
5: 109,240,840 (GRCm39) |
Y91S |
possibly damaging |
Het |
| Vmn2r59 |
A |
T |
7: 41,695,133 (GRCm39) |
N426K |
probably benign |
Het |
| Whamm |
C |
A |
7: 81,236,038 (GRCm39) |
L414I |
probably damaging |
Het |
| Zfhx4 |
A |
G |
3: 5,466,447 (GRCm39) |
T2227A |
probably damaging |
Het |
| Zfp866 |
C |
T |
8: 70,218,834 (GRCm39) |
R262Q |
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 |
|
|
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GCGAGGACTTCAAGAACTCCTCTG -3'
(R):5'- CACGAGCACTTGCTGACTTTTCTG -3'
Sequencing Primer
(F):5'- CTGGATCACAGACAGTCTTTTTG -3'
(R):5'- AGAACCAGTGATGTTCTCTCAGG -3'
|
| Posted On |
2014-03-17 |
Incidental Mutation