Incidental Mutation 'IGL02238:Rab4b'
| ID |
285988 |
| 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 # |
IGL02238
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
26867858-26878308 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 26872154 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Aspartic acid
at position 189
(Y189D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000090727
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000093040]
[ENSMUST00000153511]
[ENSMUST00000154724]
|
| AlphaFold |
Q91ZR1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000093040
AA Change: Y189D
PolyPhen 2
Score 0.206 (Sensitivity: 0.92; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000090727
Gene: ENSMUSG00000053291
AA Change: Y189D
| 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: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca15 |
T |
A |
7: 119,995,829 (GRCm39) |
I1322N |
probably benign |
Het |
| Adamts1 |
A |
T |
16: 85,592,713 (GRCm39) |
M565K |
probably benign |
Het |
| Akr1b7 |
T |
A |
6: 34,392,333 (GRCm39) |
Y49N |
probably damaging |
Het |
| Cacna2d2 |
T |
A |
9: 107,390,757 (GRCm39) |
V363E |
probably damaging |
Het |
| Cdc45 |
C |
T |
16: 18,617,479 (GRCm39) |
M200I |
probably benign |
Het |
| Cdh10 |
C |
T |
15: 19,013,605 (GRCm39) |
T735I |
probably damaging |
Het |
| Cds1 |
T |
A |
5: 101,962,302 (GRCm39) |
C306S |
possibly damaging |
Het |
| Cfap251 |
T |
C |
5: 123,440,486 (GRCm39) |
Y1091H |
probably damaging |
Het |
| Clasp2 |
T |
C |
9: 113,709,088 (GRCm39) |
C644R |
probably damaging |
Het |
| Coil |
T |
C |
11: 88,872,580 (GRCm39) |
S314P |
probably benign |
Het |
| D630045J12Rik |
T |
A |
6: 38,173,329 (GRCm39) |
M280L |
probably benign |
Het |
| Dmxl2 |
C |
T |
9: 54,352,717 (GRCm39) |
V795M |
probably damaging |
Het |
| Dock10 |
A |
G |
1: 80,511,510 (GRCm39) |
V1533A |
probably damaging |
Het |
| Fbxo40 |
T |
C |
16: 36,789,536 (GRCm39) |
N525D |
possibly damaging |
Het |
| Fezf2 |
T |
C |
14: 12,344,494 (GRCm38) |
E231G |
probably damaging |
Het |
| Fmn1 |
T |
C |
2: 113,412,470 (GRCm39) |
V870A |
possibly damaging |
Het |
| Ifi44 |
A |
G |
3: 151,438,019 (GRCm39) |
*423Q |
probably null |
Het |
| Invs |
T |
C |
4: 48,390,029 (GRCm39) |
V173A |
probably damaging |
Het |
| Krt88 |
A |
G |
15: 101,350,486 (GRCm39) |
|
probably benign |
Het |
| Mctp2 |
A |
T |
7: 71,739,953 (GRCm39) |
Y812* |
probably null |
Het |
| Neto2 |
T |
C |
8: 86,396,292 (GRCm39) |
I118V |
probably damaging |
Het |
| Nutm2 |
T |
G |
13: 50,625,075 (GRCm39) |
M264R |
probably damaging |
Het |
| Or2d2 |
A |
G |
7: 106,728,244 (GRCm39) |
S119P |
probably damaging |
Het |
| Or8u8 |
T |
C |
2: 86,011,939 (GRCm39) |
|
probably null |
Het |
| Pcnx1 |
G |
A |
12: 81,964,688 (GRCm39) |
R285Q |
probably damaging |
Het |
| Pi16 |
G |
T |
17: 29,545,269 (GRCm39) |
K177N |
probably damaging |
Het |
| Pigg |
C |
T |
5: 108,466,794 (GRCm39) |
S225F |
possibly damaging |
Het |
| Prrc2b |
T |
A |
2: 32,103,429 (GRCm39) |
V969E |
probably damaging |
Het |
| Ran |
A |
G |
5: 129,099,246 (GRCm39) |
N143D |
possibly damaging |
Het |
| Rfc4 |
A |
T |
16: 22,933,219 (GRCm39) |
F286L |
probably damaging |
Het |
| Sel1l2 |
T |
C |
2: 140,089,859 (GRCm39) |
Y418C |
probably damaging |
Het |
| Slc13a1 |
T |
C |
6: 24,103,482 (GRCm39) |
I354V |
probably benign |
Het |
| Slc7a2 |
A |
T |
8: 41,361,193 (GRCm39) |
T386S |
probably benign |
Het |
| Tm2d2 |
G |
T |
8: 25,512,787 (GRCm39) |
V212F |
probably benign |
Het |
| Tmem247 |
A |
T |
17: 87,225,721 (GRCm39) |
N54Y |
probably damaging |
Het |
| Txnrd3 |
T |
A |
6: 89,633,117 (GRCm39) |
Y206N |
probably benign |
Het |
| Uba5 |
T |
C |
9: 103,931,259 (GRCm39) |
|
probably benign |
Het |
| Vmn2r54 |
A |
G |
7: 12,369,910 (GRCm39) |
L51P |
probably damaging |
Het |
| Zfp735 |
A |
G |
11: 73,601,319 (GRCm39) |
K88E |
probably benign |
Het |
|
| Other mutations in Rab4b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00341:Rab4b
|
APN |
7 |
26,872,151 (GRCm39) |
missense |
probably damaging |
0.97 |
|
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 |
2015-04-16 |
Incidental Mutation