Incidental Mutation 'IGL00341:Rab4b'
| ID |
6306 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Rab4b
|
| Ensembl Gene |
ENSMUSG00000053291 |
| Gene Name |
RAB4B, member RAS oncogene family |
| Synonyms |
1500031G17Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL00341
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
26867858-26878308 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 26872151 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Serine
at position 190
(G190S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000090727
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000093040]
[ENSMUST00000153511]
[ENSMUST00000154724]
|
| AlphaFold |
Q91ZR1 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000093040
AA Change: G190S
PolyPhen 2
Score 0.971 (Sensitivity: 0.77; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000090727
Gene: ENSMUSG00000053291
AA Change: G190S
| Domain | Start | End | E-Value | Type |
|---|
|
RAB
|
9 |
172 |
2.47e-101 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000128409
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000131278
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000131420
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134462
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141906
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152753
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000175607
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000153511
|
| SMART Domains |
Protein: ENSMUSP00000138477
Gene: ENSMUSG00000053291
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Arf
|
3 |
97 |
1.8e-11 |
PFAM |
|
Pfam:Miro
|
10 |
95 |
9.5e-15 |
PFAM |
|
Pfam:Ras
|
10 |
95 |
7.8e-35 |
PFAM |
|
Pfam:Gtr1_RagA
|
10 |
98 |
4.8e-6 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000154724
|
| SMART Domains |
Protein: ENSMUSP00000122859
Gene: ENSMUSG00000095538
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
23 |
N/A |
INTRINSIC |
|
SH3
|
46 |
112 |
8.92e-5 |
SMART |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] RAB proteins, such as RAB4B, are members of the RAS superfamily of small GTPases that are involved in vesicular trafficking (He et al., 2002 [PubMed 12450215]).[supplied by OMIM, Aug 2009]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arhgef5 |
T |
A |
6: 43,257,203 (GRCm39) |
Y519* |
probably null |
Het |
| Bahcc1 |
A |
G |
11: 120,163,130 (GRCm39) |
Y476C |
probably damaging |
Het |
| Bclaf1 |
A |
T |
10: 20,201,745 (GRCm39) |
E295D |
probably damaging |
Het |
| Bend3 |
A |
G |
10: 43,387,539 (GRCm39) |
D644G |
probably damaging |
Het |
| Ccdc122 |
G |
A |
14: 77,329,179 (GRCm39) |
M77I |
probably benign |
Het |
| Ccna1 |
A |
G |
3: 54,958,076 (GRCm39) |
V143A |
probably damaging |
Het |
| Dnah11 |
T |
C |
12: 118,162,480 (GRCm39) |
R30G |
probably benign |
Het |
| Hoxc4 |
A |
G |
15: 102,944,264 (GRCm39) |
D214G |
probably damaging |
Het |
| Itsn2 |
A |
T |
12: 4,708,027 (GRCm39) |
T778S |
possibly damaging |
Het |
| Kcnn2 |
A |
G |
18: 45,810,138 (GRCm39) |
|
probably benign |
Het |
| Krtap5-3 |
G |
T |
7: 141,755,612 (GRCm39) |
|
probably benign |
Het |
| Lgr5 |
G |
T |
10: 115,290,369 (GRCm39) |
Q516K |
possibly damaging |
Het |
| Lrpprc |
T |
C |
17: 85,057,953 (GRCm39) |
K759R |
possibly damaging |
Het |
| Mtfr2 |
A |
G |
10: 20,233,394 (GRCm39) |
D321G |
probably damaging |
Het |
| Nip7 |
A |
G |
8: 107,783,802 (GRCm39) |
Y45C |
possibly damaging |
Het |
| Or4c111 |
T |
C |
2: 88,844,268 (GRCm39) |
I47V |
probably benign |
Het |
| Pak1ip1 |
A |
T |
13: 41,161,494 (GRCm39) |
T84S |
possibly damaging |
Het |
| Ptpn20 |
C |
A |
14: 33,344,576 (GRCm39) |
R167S |
probably benign |
Het |
| Ropn1l |
T |
A |
15: 31,443,495 (GRCm39) |
D179V |
probably damaging |
Het |
| Shc2 |
C |
T |
10: 79,456,903 (GRCm39) |
R571Q |
probably damaging |
Het |
| Smad1 |
A |
G |
8: 80,083,098 (GRCm39) |
V134A |
probably damaging |
Het |
| Smad6 |
A |
G |
9: 63,861,263 (GRCm39) |
V344A |
probably damaging |
Het |
| Tet2 |
A |
G |
3: 133,193,846 (GRCm39) |
L196P |
possibly damaging |
Het |
| Tmem64 |
T |
A |
4: 15,266,694 (GRCm39) |
V248E |
probably damaging |
Het |
| Ttc7 |
C |
T |
17: 87,670,992 (GRCm39) |
T709I |
possibly damaging |
Het |
| Usp31 |
A |
G |
7: 121,305,893 (GRCm39) |
L195P |
probably damaging |
Het |
| Vmn2r112 |
G |
A |
17: 22,837,917 (GRCm39) |
V793I |
probably benign |
Het |
| Xpo5 |
T |
G |
17: 46,535,973 (GRCm39) |
L535R |
probably damaging |
Het |
| Ythdc2 |
A |
T |
18: 44,983,464 (GRCm39) |
M544L |
probably benign |
Het |
|
| Other mutations in Rab4b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02238:Rab4b
|
APN |
7 |
26,872,154 (GRCm39) |
missense |
probably benign |
0.21 |
|
PIT4802001:Rab4b
|
UTSW |
7 |
26,875,267 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0103:Rab4b
|
UTSW |
7 |
26,873,927 (GRCm39) |
missense |
probably benign |
0.07 |
|
R0103:Rab4b
|
UTSW |
7 |
26,873,927 (GRCm39) |
missense |
probably benign |
0.07 |
|
R4152:Rab4b
|
UTSW |
7 |
26,875,551 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R4735:Rab4b
|
UTSW |
7 |
26,872,191 (GRCm39) |
splice site |
probably benign |
|
|
R5399:Rab4b
|
UTSW |
7 |
26,875,587 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5930:Rab4b
|
UTSW |
7 |
26,873,927 (GRCm39) |
missense |
probably benign |
0.07 |
|
R6405:Rab4b
|
UTSW |
7 |
26,872,379 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6886:Rab4b
|
UTSW |
7 |
26,872,381 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7635:Rab4b
|
UTSW |
7 |
26,875,642 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8805:Rab4b
|
UTSW |
7 |
26,874,148 (GRCm39) |
missense |
|
|
|
| Posted On |
2012-04-20 |
Incidental Mutation