Incidental Mutation 'R0750:Tmed6'
| ID |
70283 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tmed6
|
| Ensembl Gene |
ENSMUSG00000031919 |
| Gene Name |
transmembrane p24 trafficking protein 6 |
| Synonyms |
1810015P03Rik, 1810018I24Rik |
| MMRRC Submission |
038930-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0750 (G1)
|
| Quality Score |
209 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
107788116-107792276 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 107788401 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 182
(Y182C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000034393
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034392]
[ENSMUST00000034393]
[ENSMUST00000170962]
|
| AlphaFold |
Q9CQG0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000034392
|
| SMART Domains |
Protein: ENSMUSP00000034392
Gene: ENSMUSG00000031917
| Domain | Start | End | E-Value | Type |
|---|
|
PUA
|
95 |
170 |
4.36e-20 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000034393
AA Change: Y182C
PolyPhen 2
Score 0.869 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000034393
Gene: ENSMUSG00000031919
AA Change: Y182C
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
|
EMP24_GP25L
|
43 |
228 |
1.87e-39 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000170962
|
| SMART Domains |
Protein: ENSMUSP00000126153
Gene: ENSMUSG00000031917
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:1T5Y|A
|
1 |
133 |
7e-87 |
PDB |
|
Blast:PUA
|
95 |
123 |
5e-13 |
BLAST |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000212281
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.0%
- 20x: 93.3%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 23 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Agrn |
A |
T |
4: 156,251,394 (GRCm39) |
L1974* |
probably null |
Het |
| Brd4 |
T |
C |
17: 32,439,226 (GRCm39) |
E418G |
probably benign |
Het |
| Brip1 |
G |
A |
11: 85,952,325 (GRCm39) |
S1152L |
possibly damaging |
Het |
| Btrc |
T |
G |
19: 45,491,585 (GRCm39) |
F81C |
probably damaging |
Het |
| Cep85l |
A |
G |
10: 53,157,642 (GRCm39) |
L585P |
probably damaging |
Het |
| Cfap46 |
T |
G |
7: 139,234,586 (GRCm39) |
E671D |
probably damaging |
Het |
| Dsg1a |
T |
C |
18: 20,473,210 (GRCm39) |
L761P |
probably benign |
Het |
| Ece2 |
G |
T |
16: 20,451,800 (GRCm39) |
V396L |
probably benign |
Het |
| Garin4 |
G |
A |
1: 190,896,682 (GRCm39) |
|
probably benign |
Het |
| Hs6st3 |
CGGAGGAGGAGGAGGAGGA |
CGGAGGAGGAGGAGGA |
14: 119,376,119 (GRCm39) |
|
probably benign |
Het |
| Id2 |
A |
G |
12: 25,145,670 (GRCm39) |
S114P |
probably damaging |
Het |
| Igf1r |
T |
C |
7: 67,861,839 (GRCm39) |
F1133S |
probably damaging |
Het |
| Izumo1 |
T |
C |
7: 45,275,707 (GRCm39) |
|
probably null |
Het |
| Krt35 |
A |
G |
11: 99,986,979 (GRCm39) |
S12P |
possibly damaging |
Het |
| Or5a1 |
T |
C |
19: 12,098,077 (GRCm39) |
|
probably null |
Het |
| Pkdrej |
G |
T |
15: 85,702,275 (GRCm39) |
D1220E |
probably benign |
Het |
| Pramel32 |
A |
G |
4: 88,545,905 (GRCm39) |
F479S |
probably benign |
Het |
| Sema3a |
G |
A |
5: 13,607,092 (GRCm39) |
|
probably null |
Het |
| Tmem174 |
G |
T |
13: 98,773,787 (GRCm39) |
N14K |
probably damaging |
Het |
| Tmem87b |
T |
C |
2: 128,660,356 (GRCm39) |
L33P |
possibly damaging |
Het |
| Vmn1r16 |
T |
C |
6: 57,299,812 (GRCm39) |
Y270C |
probably benign |
Het |
| Vps37d |
A |
T |
5: 135,103,294 (GRCm39) |
L116Q |
possibly damaging |
Het |
| Zfp592 |
A |
G |
7: 80,674,493 (GRCm39) |
S486G |
probably benign |
Het |
|
| Other mutations in Tmed6 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02447:Tmed6
|
APN |
8 |
107,792,240 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
FR4589:Tmed6
|
UTSW |
8 |
107,788,230 (GRCm39) |
nonsense |
probably null |
|
|
R0077:Tmed6
|
UTSW |
8 |
107,792,198 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0653:Tmed6
|
UTSW |
8 |
107,792,283 (GRCm39) |
splice site |
probably null |
|
|
R0718:Tmed6
|
UTSW |
8 |
107,788,356 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1497:Tmed6
|
UTSW |
8 |
107,790,754 (GRCm39) |
missense |
probably benign |
0.05 |
|
R3016:Tmed6
|
UTSW |
8 |
107,792,069 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4589:Tmed6
|
UTSW |
8 |
107,790,793 (GRCm39) |
missense |
probably benign |
0.31 |
|
R4754:Tmed6
|
UTSW |
8 |
107,790,362 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5860:Tmed6
|
UTSW |
8 |
107,790,786 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5861:Tmed6
|
UTSW |
8 |
107,790,786 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5862:Tmed6
|
UTSW |
8 |
107,790,786 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5941:Tmed6
|
UTSW |
8 |
107,790,786 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6177:Tmed6
|
UTSW |
8 |
107,792,083 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6225:Tmed6
|
UTSW |
8 |
107,788,371 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8869:Tmed6
|
UTSW |
8 |
107,792,164 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9042:Tmed6
|
UTSW |
8 |
107,790,385 (GRCm39) |
missense |
probably benign |
0.39 |
|
R9183:Tmed6
|
UTSW |
8 |
107,788,390 (GRCm39) |
nonsense |
probably null |
|
|
RF034:Tmed6
|
UTSW |
8 |
107,788,228 (GRCm39) |
frame shift |
probably null |
|
|
RF043:Tmed6
|
UTSW |
8 |
107,788,228 (GRCm39) |
frame shift |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- AGAATGATCAGCAGCAGAACTCACTTTT -3'
(R):5'- CTCCTTACCACTGGGTACATCCCAA -3'
Sequencing Primer
(F):5'- GCAGCAGAACTCACTTTTTGTTAAAC -3'
(R):5'- GGTACATCCCAAGCCCTAACTATG -3'
|
| Posted On |
2013-09-30 |
Incidental Mutation