Incidental Mutation 'R1229:Tram1'
| ID |
172424 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tram1
|
| Ensembl Gene |
ENSMUSG00000025935 |
| Gene Name |
translocating chain-associating membrane protein 1 |
| Synonyms |
TRAMP, 1810049E02Rik |
| MMRRC Submission |
039298-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.578)
|
| Stock # |
R1229 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
13634922-13660134 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 13639776 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Glycine
at position 324
(R324G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000027068
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027068]
|
| AlphaFold |
Q91V04 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000027068
AA Change: R324G
PolyPhen 2
Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000027068
Gene: ENSMUSG00000025935
AA Change: R324G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TRAM1
|
47 |
115 |
6.1e-24 |
PFAM |
|
TLC
|
117 |
326 |
2.36e-54 |
SMART |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.4%
- 10x: 96.4%
- 20x: 92.9%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: This gene encodes a multi-pass transmembrane protein of the endoplasmic reticulum (ER). It is involved in the process of cotranslational translocation of secretory proteins into the ER. [provided by RefSeq, Dec 2014]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 15 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arid1a |
A |
C |
4: 133,418,548 (GRCm39) |
L1012V |
unknown |
Het |
| Bzw1 |
A |
G |
1: 58,433,378 (GRCm39) |
N35S |
probably benign |
Het |
| Ccdc93 |
A |
G |
1: 121,362,371 (GRCm39) |
D51G |
probably damaging |
Het |
| Dnah1 |
A |
T |
14: 31,032,808 (GRCm39) |
M409K |
probably benign |
Het |
| Fam13b |
C |
T |
18: 34,578,636 (GRCm39) |
M705I |
probably benign |
Het |
| Gm1110 |
T |
C |
9: 26,793,102 (GRCm39) |
Y558C |
probably benign |
Het |
| Iqgap2 |
A |
G |
13: 95,768,673 (GRCm39) |
I1409T |
probably benign |
Het |
| Mfsd11 |
T |
C |
11: 116,764,123 (GRCm39) |
F368S |
probably damaging |
Het |
| Neb |
C |
A |
2: 52,133,955 (GRCm39) |
V3343F |
probably damaging |
Het |
| Nrp1 |
T |
G |
8: 129,145,197 (GRCm39) |
Y84* |
probably null |
Het |
| Or4n5 |
G |
A |
14: 50,132,711 (GRCm39) |
Q183* |
probably null |
Het |
| Pate2 |
T |
A |
9: 35,580,991 (GRCm39) |
F2I |
probably damaging |
Het |
| Pla2r1 |
T |
A |
2: 60,365,106 (GRCm39) |
T155S |
probably benign |
Het |
| Slc28a2 |
T |
A |
2: 122,291,012 (GRCm39) |
C659* |
probably null |
Het |
| Wdr19 |
A |
T |
5: 65,413,734 (GRCm39) |
I1226F |
possibly damaging |
Het |
|
| Other mutations in Tram1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01154:Tram1
|
APN |
1 |
13,649,673 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL03071:Tram1
|
APN |
1 |
13,649,998 (GRCm39) |
nonsense |
probably null |
|
|
IGL03123:Tram1
|
APN |
1 |
13,659,829 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0764:Tram1
|
UTSW |
1 |
13,649,933 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1775:Tram1
|
UTSW |
1 |
13,646,680 (GRCm39) |
unclassified |
probably benign |
|
|
R3877:Tram1
|
UTSW |
1 |
13,639,827 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4077:Tram1
|
UTSW |
1 |
13,636,599 (GRCm39) |
missense |
probably benign |
|
|
R4747:Tram1
|
UTSW |
1 |
13,659,870 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5197:Tram1
|
UTSW |
1 |
13,642,126 (GRCm39) |
missense |
probably benign |
0.19 |
|
R5213:Tram1
|
UTSW |
1 |
13,649,966 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5224:Tram1
|
UTSW |
1 |
13,648,349 (GRCm39) |
missense |
probably benign |
0.10 |
|
R7362:Tram1
|
UTSW |
1 |
13,659,832 (GRCm39) |
missense |
probably benign |
0.04 |
|
R7587:Tram1
|
UTSW |
1 |
13,649,771 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7671:Tram1
|
UTSW |
1 |
13,659,868 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R7988:Tram1
|
UTSW |
1 |
13,640,199 (GRCm39) |
missense |
probably benign |
0.04 |
|
R9047:Tram1
|
UTSW |
1 |
13,639,830 (GRCm39) |
missense |
probably benign |
|
|
R9749:Tram1
|
UTSW |
1 |
13,640,238 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
RF015:Tram1
|
UTSW |
1 |
13,649,966 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCAACTATGCCAACTGAAGCCAGTC -3'
(R):5'- GCTGGGTCATCACCATCAGATCAC -3'
Sequencing Primer
(F):5'- TCATGGCTGACTGCACAC -3'
(R):5'- GGTCATCACCATCAGATCACAGTAG -3'
|
| Posted On |
2014-04-24 |
Incidental Mutation