Incidental Mutation 'R6405:Rab4b'
| ID |
516253 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rab4b
|
| Ensembl Gene |
ENSMUSG00000053291 |
| Gene Name |
RAB4B, member RAS oncogene family |
| Synonyms |
1500031G17Rik |
| MMRRC Submission |
044550-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6405 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
26867858-26878308 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 26872379 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Valine
at position 94
(D94V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000138477
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000093040]
[ENSMUST00000153511]
[ENSMUST00000154724]
|
| AlphaFold |
Q91ZR1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000093040
AA Change: M146L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000090727
Gene: ENSMUSG00000053291
AA Change: M146L
| 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 |
probably damaging
Transcript: ENSMUST00000153511
AA Change: D94V
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000138477
Gene: ENSMUSG00000053291
AA Change: D94V
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000175607
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 98.2%
|
| 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: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930562C15Rik |
T |
C |
16: 4,669,742 (GRCm39) |
V769A |
probably damaging |
Het |
| Abca4 |
A |
G |
3: 121,967,311 (GRCm39) |
|
probably null |
Het |
| Ahnak2 |
A |
T |
12: 112,739,771 (GRCm39) |
S628T |
probably damaging |
Het |
| Ano8 |
T |
C |
8: 71,935,674 (GRCm39) |
T315A |
probably damaging |
Het |
| Arhgap32 |
T |
A |
9: 32,159,784 (GRCm39) |
V267E |
probably benign |
Het |
| Asnsd1 |
A |
T |
1: 53,387,154 (GRCm39) |
S158T |
probably damaging |
Het |
| Asxl2 |
T |
A |
12: 3,543,758 (GRCm39) |
V309E |
probably damaging |
Het |
| Bhlhe40 |
TG |
TGG |
6: 108,641,818 (GRCm39) |
254 |
probably null |
Het |
| Ccdc110 |
T |
A |
8: 46,394,734 (GRCm39) |
Y208* |
probably null |
Het |
| Cfap157 |
G |
T |
2: 32,671,408 (GRCm39) |
Q133K |
probably damaging |
Het |
| Cfap53 |
A |
G |
18: 74,492,677 (GRCm39) |
E467G |
probably damaging |
Het |
| Csmd3 |
T |
C |
15: 47,683,767 (GRCm39) |
I1688M |
probably damaging |
Het |
| Cyp3a11 |
A |
T |
5: 145,799,230 (GRCm39) |
L319Q |
probably damaging |
Het |
| Dchs2 |
A |
G |
3: 83,261,570 (GRCm39) |
I2613V |
probably benign |
Het |
| Dhx35 |
T |
A |
2: 158,636,839 (GRCm39) |
W11R |
probably damaging |
Het |
| Dscam |
C |
T |
16: 96,479,625 (GRCm39) |
G1174D |
probably damaging |
Het |
| Fan1 |
T |
A |
7: 64,022,234 (GRCm39) |
N340Y |
probably damaging |
Het |
| Fsip2 |
A |
G |
2: 82,820,430 (GRCm39) |
T5388A |
possibly damaging |
Het |
| Gm10549 |
C |
A |
18: 33,597,358 (GRCm39) |
|
probably benign |
Het |
| Greb1l |
T |
A |
18: 10,501,076 (GRCm39) |
I402K |
probably benign |
Het |
| Hectd3 |
A |
T |
4: 116,857,821 (GRCm39) |
M585L |
probably benign |
Het |
| Inpp5k |
T |
C |
11: 75,524,004 (GRCm39) |
|
probably null |
Het |
| Lalba |
T |
G |
15: 98,378,632 (GRCm39) |
|
probably null |
Het |
| Lgals9 |
C |
A |
11: 78,862,211 (GRCm39) |
V125L |
probably benign |
Het |
| Ncbp2 |
CGTCTGGATG |
CG |
16: 31,775,161 (GRCm39) |
|
probably null |
Het |
| Or2g25 |
A |
G |
17: 37,971,014 (GRCm39) |
I70T |
possibly damaging |
Het |
| Peg10 |
C |
CTCG |
6: 4,756,453 (GRCm39) |
|
probably benign |
Het |
| Rhpn2 |
A |
G |
7: 35,071,864 (GRCm39) |
E243G |
probably benign |
Het |
| Rp1 |
T |
C |
1: 4,415,994 (GRCm39) |
D1706G |
probably damaging |
Het |
| Slc29a3 |
A |
T |
10: 60,551,805 (GRCm39) |
I413N |
probably damaging |
Het |
| Slc7a9 |
T |
C |
7: 35,154,064 (GRCm39) |
L229P |
probably damaging |
Het |
| Tenm2 |
T |
C |
11: 36,755,686 (GRCm39) |
H104R |
probably benign |
Het |
| Tmem87a |
A |
G |
2: 120,210,231 (GRCm39) |
Y241H |
probably damaging |
Het |
| Trpv5 |
G |
T |
6: 41,651,602 (GRCm39) |
T192K |
probably damaging |
Het |
| Unc79 |
T |
C |
12: 103,134,595 (GRCm39) |
V2189A |
probably damaging |
Het |
| Vmn2r106 |
A |
C |
17: 20,499,361 (GRCm39) |
S183R |
probably benign |
Het |
| Vmn2r112 |
G |
T |
17: 22,837,216 (GRCm39) |
C559F |
probably damaging |
Het |
| Wdhd1 |
T |
C |
14: 47,481,324 (GRCm39) |
D1031G |
possibly damaging |
Het |
| Wnt5b |
T |
C |
6: 119,410,457 (GRCm39) |
S328G |
probably benign |
Het |
| Zcchc7 |
T |
C |
4: 44,926,032 (GRCm39) |
Y344H |
probably damaging |
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 |
|
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 |
|
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 |
|
|
|
| Predicted Primers |
PCR Primer
(F):5'- AAGGCCAGACATGTTCCTCG -3'
(R):5'- AGAAGTCTCAGCTAAGCCAGGG -3'
Sequencing Primer
(F):5'- AGACATGTTCCTCGGAGCC -3'
(R):5'- AGAAGGGCCTCCTGACTCAG -3'
|
| Posted On |
2018-05-04 |
Incidental Mutation