Incidental Mutation 'R4128:Rab39'
| ID |
315477 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rab39
|
| Ensembl Gene |
ENSMUSG00000055069 |
| Gene Name |
RAB39, member RAS oncogene family |
| Synonyms |
Rab39a, C230094F14Rik |
| MMRRC Submission |
041635-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4128 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
53595410-53617532 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 53597804 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Leucine
at position 154
(I154L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000063804
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000068449]
|
| AlphaFold |
Q8BHD0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000068449
AA Change: I154L
PolyPhen 2
Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000063804
Gene: ENSMUSG00000055069
AA Change: I154L
| Domain | Start | End | E-Value | Type |
|---|
|
RAB
|
9 |
178 |
8.35e-99 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000118010
|
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.5%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamtsl4 |
C |
T |
3: 95,588,982 (GRCm39) |
R483Q |
probably benign |
Het |
| Bbox1 |
A |
G |
2: 110,100,525 (GRCm39) |
V224A |
probably benign |
Het |
| Cavin2 |
A |
G |
1: 51,340,581 (GRCm39) |
*419W |
probably null |
Het |
| Cdk19 |
A |
G |
10: 40,270,391 (GRCm39) |
I67V |
probably benign |
Het |
| Cds2 |
A |
G |
2: 132,139,191 (GRCm39) |
T145A |
probably benign |
Het |
| Chn2 |
G |
T |
6: 54,249,963 (GRCm39) |
R24M |
probably damaging |
Het |
| Csl |
T |
C |
10: 99,594,462 (GRCm39) |
D201G |
probably benign |
Het |
| Erap1 |
T |
C |
13: 74,814,315 (GRCm39) |
I33T |
probably damaging |
Het |
| Ermap |
T |
C |
4: 119,044,308 (GRCm39) |
T163A |
possibly damaging |
Het |
| Gnas |
A |
G |
2: 174,141,958 (GRCm39) |
N709S |
possibly damaging |
Het |
| Hsd17b14 |
G |
A |
7: 45,212,432 (GRCm39) |
V155M |
probably damaging |
Het |
| Igf2bp2 |
C |
T |
16: 21,897,371 (GRCm39) |
V281I |
probably benign |
Het |
| Ighj4 |
T |
C |
12: 113,392,176 (GRCm39) |
|
probably benign |
Het |
| Ireb2 |
T |
A |
9: 54,788,716 (GRCm39) |
D63E |
probably benign |
Het |
| Jarid2 |
T |
C |
13: 45,055,732 (GRCm39) |
S313P |
probably damaging |
Het |
| Kcnj11 |
A |
G |
7: 45,749,143 (GRCm39) |
F60S |
probably damaging |
Het |
| Lyplal1 |
A |
G |
1: 185,821,736 (GRCm39) |
C129R |
possibly damaging |
Het |
| Mertk |
C |
T |
2: 128,619,358 (GRCm39) |
Q539* |
probably null |
Het |
| Myrip |
C |
A |
9: 120,293,764 (GRCm39) |
S753* |
probably null |
Het |
| Narf |
G |
A |
11: 121,141,261 (GRCm39) |
|
probably null |
Het |
| Neb |
C |
A |
2: 52,182,712 (GRCm39) |
L1051F |
probably damaging |
Het |
| Nid1 |
T |
C |
13: 13,650,957 (GRCm39) |
V498A |
probably damaging |
Het |
| Or10ab5 |
T |
C |
7: 108,245,633 (GRCm39) |
N50S |
probably benign |
Het |
| Or14j8 |
A |
G |
17: 38,263,681 (GRCm39) |
I78T |
probably benign |
Het |
| Pam |
A |
G |
1: 97,762,193 (GRCm39) |
Y691H |
probably damaging |
Het |
| Poln |
A |
G |
5: 34,261,295 (GRCm39) |
S561P |
probably benign |
Het |
| Rnf187 |
A |
T |
11: 58,824,883 (GRCm39) |
S220T |
probably benign |
Het |
| Stac |
C |
A |
9: 111,433,126 (GRCm39) |
|
probably null |
Het |
| Stxbp3 |
T |
C |
3: 108,702,147 (GRCm39) |
Q553R |
probably benign |
Het |
| Tmem179 |
A |
T |
12: 112,477,461 (GRCm39) |
F8I |
possibly damaging |
Het |
| Trip11 |
G |
A |
12: 101,861,957 (GRCm39) |
Q203* |
probably null |
Het |
| Ubash3a |
T |
C |
17: 31,456,249 (GRCm39) |
Y506H |
probably damaging |
Het |
| Unc13c |
C |
A |
9: 73,641,819 (GRCm39) |
A1225S |
probably damaging |
Het |
| Zranb1 |
C |
A |
7: 132,568,281 (GRCm39) |
S313* |
probably null |
Het |
|
| Other mutations in Rab39 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL03131:Rab39
|
APN |
9 |
53,597,861 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0207:Rab39
|
UTSW |
9 |
53,617,271 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R0238:Rab39
|
UTSW |
9 |
53,617,330 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0238:Rab39
|
UTSW |
9 |
53,617,330 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0529:Rab39
|
UTSW |
9 |
53,598,016 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1869:Rab39
|
UTSW |
9 |
53,617,231 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R2020:Rab39
|
UTSW |
9 |
53,597,698 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R3967:Rab39
|
UTSW |
9 |
53,597,932 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R3968:Rab39
|
UTSW |
9 |
53,597,932 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R3969:Rab39
|
UTSW |
9 |
53,597,932 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R4394:Rab39
|
UTSW |
9 |
53,597,950 (GRCm39) |
missense |
probably benign |
|
|
R5173:Rab39
|
UTSW |
9 |
53,597,800 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5839:Rab39
|
UTSW |
9 |
53,617,387 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6351:Rab39
|
UTSW |
9 |
53,597,821 (GRCm39) |
missense |
probably benign |
|
|
R6521:Rab39
|
UTSW |
9 |
53,617,331 (GRCm39) |
missense |
probably benign |
0.28 |
|
R6908:Rab39
|
UTSW |
9 |
53,617,369 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7747:Rab39
|
UTSW |
9 |
53,597,700 (GRCm39) |
missense |
probably benign |
|
|
R8078:Rab39
|
UTSW |
9 |
53,617,255 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R8285:Rab39
|
UTSW |
9 |
53,617,231 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9200:Rab39
|
UTSW |
9 |
53,597,665 (GRCm39) |
missense |
probably benign |
0.06 |
|
R9406:Rab39
|
UTSW |
9 |
53,597,915 (GRCm39) |
missense |
probably damaging |
0.98 |
|
Z1177:Rab39
|
UTSW |
9 |
53,598,014 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGCACTCTTTTCTGGGCTTG -3'
(R):5'- TCCTATTACCGCAACTCAGTTG -3'
Sequencing Primer
(F):5'- GGGCTTGACTGCTTCCTCAG -3'
(R):5'- GTGTTTGACATTACTAACCGACGGTC -3'
|
| Posted On |
2015-05-14 |
Incidental Mutation