Incidental Mutation 'R4018:Rab3c'
| ID |
312034 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rab3c
|
| Ensembl Gene |
ENSMUSG00000021700 |
| Gene Name |
RAB3C, member RAS oncogene family |
| Synonyms |
3110015B08Rik, 3110037E15Rik, 2700062I01Rik |
| MMRRC Submission |
040848-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4018 (G1)
|
| Quality Score |
213 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
110190721-110417530 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 110220728 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Asparagine
at position 144
(K144N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000153136
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000167824]
[ENSMUST00000223922]
[ENSMUST00000224180]
|
| AlphaFold |
P62823 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000167824
AA Change: K144N
PolyPhen 2
Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000132945
Gene: ENSMUSG00000021700
AA Change: K144N
| Domain | Start | End | E-Value | Type |
|---|
|
RAB
|
31 |
194 |
1.35e-93 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000223922
AA Change: K142N
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000224180
AA Change: K144N
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.4%
- 10x: 96.6%
- 20x: 92.4%
|
| Validation Efficiency |
100% (33/33) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the RAS oncogene family and encodes a small GTPase. Other similar small GTPases are known to be involved in vesicle trafficking, and the encoded protein was shown to play a role in recycling phagocytosed MHC class 1 complexes to the cell surface. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2015]
PHENOTYPE: Mice homozygous for a knock-out allele are viable and fertile. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aga |
A |
G |
8: 53,976,226 (GRCm39) |
K319R |
probably benign |
Het |
| Brip1 |
G |
T |
11: 86,029,677 (GRCm39) |
T619K |
possibly damaging |
Het |
| Cd300ld2 |
G |
T |
11: 114,903,330 (GRCm39) |
|
probably benign |
Het |
| Cd300lg |
A |
G |
11: 101,932,420 (GRCm39) |
R2G |
probably damaging |
Het |
| Celsr2 |
C |
T |
3: 108,302,281 (GRCm39) |
V2616I |
possibly damaging |
Het |
| Cfap251 |
A |
G |
5: 123,460,517 (GRCm39) |
I1160V |
probably benign |
Het |
| Edem3 |
C |
T |
1: 151,680,577 (GRCm39) |
|
probably benign |
Het |
| Endou |
T |
A |
15: 97,616,818 (GRCm39) |
K235M |
probably damaging |
Het |
| Gm5431 |
T |
A |
11: 48,779,995 (GRCm39) |
N309I |
probably damaging |
Het |
| Il4 |
T |
A |
11: 53,504,806 (GRCm39) |
|
probably benign |
Het |
| Iws1 |
C |
A |
18: 32,203,205 (GRCm39) |
S27* |
probably null |
Het |
| Kdm5d |
T |
C |
Y: 910,441 (GRCm39) |
|
probably benign |
Het |
| Ldb3 |
T |
C |
14: 34,274,128 (GRCm39) |
|
probably benign |
Het |
| Llgl2 |
A |
G |
11: 115,738,438 (GRCm39) |
T284A |
probably benign |
Het |
| Maml1 |
A |
T |
11: 50,156,611 (GRCm39) |
N521K |
probably damaging |
Het |
| Mlxipl |
T |
C |
5: 135,161,526 (GRCm39) |
Y482H |
probably damaging |
Het |
| Notch2 |
G |
T |
3: 98,011,881 (GRCm39) |
C633F |
probably damaging |
Het |
| Oc90 |
T |
C |
15: 65,759,457 (GRCm39) |
D232G |
probably benign |
Het |
| Or5b101 |
T |
C |
19: 13,005,189 (GRCm39) |
E168G |
probably benign |
Het |
| Polr2a |
T |
C |
11: 69,625,885 (GRCm39) |
Y1717C |
unknown |
Het |
| Prkca |
T |
A |
11: 107,830,428 (GRCm39) |
I221F |
probably damaging |
Het |
| Ryr2 |
T |
A |
13: 11,933,300 (GRCm39) |
N57I |
probably damaging |
Het |
| Scyl3 |
A |
G |
1: 163,764,068 (GRCm39) |
T145A |
possibly damaging |
Het |
| Septin4 |
G |
A |
11: 87,475,947 (GRCm39) |
R162Q |
probably damaging |
Het |
| Slc25a39 |
A |
T |
11: 102,295,850 (GRCm39) |
L127H |
probably damaging |
Het |
| Slc9a9 |
T |
C |
9: 94,567,216 (GRCm39) |
V95A |
probably benign |
Het |
| Tsc2 |
T |
C |
17: 24,844,255 (GRCm39) |
I279V |
probably damaging |
Het |
| Usp34 |
C |
T |
11: 23,439,033 (GRCm39) |
P3532S |
possibly damaging |
Het |
| Vmn2r6 |
T |
C |
3: 64,463,893 (GRCm39) |
I314V |
probably benign |
Het |
|
| Other mutations in Rab3c |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
R1294:Rab3c
|
UTSW |
13 |
110,397,099 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R1346:Rab3c
|
UTSW |
13 |
110,397,120 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1819:Rab3c
|
UTSW |
13 |
110,220,669 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R1903:Rab3c
|
UTSW |
13 |
110,220,744 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2059:Rab3c
|
UTSW |
13 |
110,397,050 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4707:Rab3c
|
UTSW |
13 |
110,198,434 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4784:Rab3c
|
UTSW |
13 |
110,198,434 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4785:Rab3c
|
UTSW |
13 |
110,198,434 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5305:Rab3c
|
UTSW |
13 |
110,317,611 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5358:Rab3c
|
UTSW |
13 |
110,198,497 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R8136:Rab3c
|
UTSW |
13 |
110,317,554 (GRCm39) |
nonsense |
probably null |
|
|
R8739:Rab3c
|
UTSW |
13 |
110,397,135 (GRCm39) |
missense |
probably damaging |
0.98 |
|
Z1177:Rab3c
|
UTSW |
13 |
110,397,020 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCAGGGTTTGCAGAAGGTC -3'
(R):5'- AAGTGTCTGACTGGGCTTCG -3'
Sequencing Primer
(F):5'- TGCGTACATACCACACACATG -3'
(R):5'- GGTCAACTCAGATCAAAACA -3'
|
| Posted On |
2015-04-29 |
Incidental Mutation