Incidental Mutation 'R0005:Tmed4'
| ID |
63937 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tmed4
|
| Ensembl Gene |
ENSMUSG00000004394 |
| Gene Name |
transmembrane p24 trafficking protein 4 |
| Synonyms |
1110014L17Rik |
| MMRRC Submission |
038301-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.142)
|
| Stock # |
R0005 (G1)
|
| Quality Score |
137 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
6220714-6224837 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 6221781 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Histidine
at position 185
(R185H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000004508
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000004507]
[ENSMUST00000004508]
[ENSMUST00000132147]
[ENSMUST00000151446]
|
| AlphaFold |
Q8R1V4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000004507
|
| SMART Domains |
Protein: ENSMUSP00000004507
Gene: ENSMUSG00000004393
| Domain | Start | End | E-Value | Type |
|---|
|
DEXDc
|
26 |
234 |
4.13e-46 |
SMART |
|
low complexity region
|
246 |
256 |
N/A |
INTRINSIC |
|
HELICc
|
272 |
380 |
2.42e-20 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000004508
AA Change: R185H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000004508
Gene: ENSMUSG00000004394
AA Change: R185H
| Domain | Start | End | E-Value | Type |
|---|
|
EMP24_GP25L
|
29 |
222 |
3.21e-79 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000104336
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000130621
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000132147
|
| SMART Domains |
Protein: ENSMUSP00000121643
Gene: ENSMUSG00000004394
| Domain | Start | End | E-Value | Type |
|---|
|
EMP24_GP25L
|
29 |
170 |
3.3e-26 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000151446
|
| SMART Domains |
Protein: ENSMUSP00000122368
Gene: ENSMUSG00000004393
| Domain | Start | End | E-Value | Type |
|---|
|
DEXDc
|
26 |
216 |
3.65e-38 |
SMART |
|
low complexity region
|
228 |
236 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155874
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.8%
- 10x: 97.5%
- 20x: 95.3%
|
| Validation Efficiency |
98% (63/64) |
| Allele List at MGI |
All alleles(1) : Targeted, knock-out(1) |
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Atxn2l |
A |
G |
7: 126,097,446 (GRCm39) |
F201L |
probably damaging |
Het |
| Camsap3 |
T |
A |
8: 3,654,288 (GRCm39) |
F653I |
probably damaging |
Het |
| Cemip2 |
A |
G |
19: 21,789,584 (GRCm39) |
T595A |
probably damaging |
Het |
| Col11a2 |
C |
T |
17: 34,281,853 (GRCm39) |
|
probably benign |
Het |
| Col27a1 |
A |
G |
4: 63,143,637 (GRCm39) |
T442A |
probably benign |
Het |
| Cpsf1 |
A |
G |
15: 76,484,880 (GRCm39) |
|
probably null |
Het |
| Enpp4 |
T |
C |
17: 44,413,066 (GRCm39) |
N156S |
probably benign |
Het |
| Fat3 |
T |
A |
9: 15,874,162 (GRCm39) |
N3485I |
probably damaging |
Het |
| Gabra2 |
C |
T |
5: 71,130,779 (GRCm39) |
V350I |
probably benign |
Het |
| H2-T5 |
G |
T |
17: 36,473,084 (GRCm39) |
|
probably benign |
Het |
| Hivep2 |
A |
G |
10: 14,004,493 (GRCm39) |
T364A |
probably damaging |
Het |
| Kif1b |
A |
T |
4: 149,266,384 (GRCm39) |
V402E |
probably damaging |
Het |
| Lamc3 |
A |
G |
2: 31,812,440 (GRCm39) |
D959G |
probably benign |
Het |
| Mag |
T |
A |
7: 30,607,779 (GRCm39) |
|
probably benign |
Het |
| Map3k1 |
A |
G |
13: 111,892,238 (GRCm39) |
F1006L |
probably benign |
Het |
| Mapre2 |
G |
A |
18: 23,986,750 (GRCm39) |
G54D |
probably damaging |
Het |
| Muc6 |
G |
T |
7: 141,218,685 (GRCm39) |
T1996N |
possibly damaging |
Het |
| Myadm |
C |
T |
7: 3,346,080 (GRCm39) |
Q281* |
probably null |
Het |
| Mylk3 |
A |
T |
8: 86,053,832 (GRCm39) |
V625D |
possibly damaging |
Het |
| Nlrp9a |
T |
C |
7: 26,273,213 (GRCm39) |
|
probably benign |
Het |
| Or8d6 |
A |
G |
9: 39,854,252 (GRCm39) |
D232G |
probably benign |
Het |
| Plcz1 |
T |
A |
6: 139,986,290 (GRCm39) |
|
probably benign |
Het |
| Plekhg5 |
TCCCCC |
TCC |
4: 152,197,108 (GRCm39) |
|
probably benign |
Het |
| Plekhh2 |
A |
C |
17: 84,893,861 (GRCm39) |
D892A |
probably benign |
Het |
| Ppih |
A |
G |
4: 119,175,798 (GRCm39) |
|
probably benign |
Het |
| Pramel13 |
G |
T |
4: 144,122,423 (GRCm39) |
F40L |
probably damaging |
Het |
| Rtn4ip1 |
A |
T |
10: 43,808,474 (GRCm39) |
M84L |
probably benign |
Het |
| Slc35f4 |
G |
A |
14: 49,559,943 (GRCm39) |
|
probably benign |
Het |
| Spocd1 |
G |
T |
4: 129,850,571 (GRCm39) |
D866Y |
possibly damaging |
Het |
| Stxbp4 |
C |
T |
11: 90,439,743 (GRCm39) |
R365Q |
possibly damaging |
Het |
| Tnfsf9 |
T |
C |
17: 57,414,236 (GRCm39) |
V221A |
possibly damaging |
Het |
| Trappc14 |
T |
C |
5: 138,260,916 (GRCm39) |
|
probably null |
Het |
| Vsx2 |
C |
A |
12: 84,617,015 (GRCm39) |
P100Q |
possibly damaging |
Het |
| Wdr48 |
T |
A |
9: 119,738,500 (GRCm39) |
D53E |
probably benign |
Het |
| Zfp335 |
T |
A |
2: 164,751,222 (GRCm39) |
S115C |
possibly damaging |
Het |
| Zfp608 |
G |
A |
18: 55,028,592 (GRCm39) |
P1274S |
possibly damaging |
Het |
|
| Other mutations in Tmed4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
3-1:Tmed4
|
UTSW |
11 |
6,223,750 (GRCm39) |
missense |
probably benign |
0.01 |
|
P4717OSA:Tmed4
|
UTSW |
11 |
6,223,727 (GRCm39) |
unclassified |
probably benign |
|
|
P4748:Tmed4
|
UTSW |
11 |
6,223,727 (GRCm39) |
unclassified |
probably benign |
|
|
R1909:Tmed4
|
UTSW |
11 |
6,224,694 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2926:Tmed4
|
UTSW |
11 |
6,221,728 (GRCm39) |
missense |
probably benign |
0.01 |
|
R3081:Tmed4
|
UTSW |
11 |
6,224,151 (GRCm39) |
missense |
probably benign |
0.09 |
|
R3801:Tmed4
|
UTSW |
11 |
6,224,233 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4572:Tmed4
|
UTSW |
11 |
6,224,461 (GRCm39) |
frame shift |
probably null |
|
|
R4748:Tmed4
|
UTSW |
11 |
6,221,716 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R4858:Tmed4
|
UTSW |
11 |
6,224,456 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R4997:Tmed4
|
UTSW |
11 |
6,224,500 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R5788:Tmed4
|
UTSW |
11 |
6,221,743 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6033:Tmed4
|
UTSW |
11 |
6,224,491 (GRCm39) |
nonsense |
probably null |
|
|
R6033:Tmed4
|
UTSW |
11 |
6,224,491 (GRCm39) |
nonsense |
probably null |
|
|
R8016:Tmed4
|
UTSW |
11 |
6,224,242 (GRCm39) |
splice site |
probably benign |
|
|
R8692:Tmed4
|
UTSW |
11 |
6,223,822 (GRCm39) |
missense |
probably benign |
0.02 |
|
R9042:Tmed4
|
UTSW |
11 |
6,224,405 (GRCm39) |
missense |
probably benign |
|
|
R9369:Tmed4
|
UTSW |
11 |
6,224,133 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R9469:Tmed4
|
UTSW |
11 |
6,223,763 (GRCm39) |
missense |
probably benign |
0.07 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATGCCAGTGTGACACCAGTGAC -3'
(R):5'- GGCCTCTTAGTGGAGAAAGCATGG -3'
Sequencing Primer
(F):5'- TCCTCAAATTCCAGGTGGATG -3'
(R):5'- CATGGTTTCAGTCGGAACAG -3'
|
| Posted On |
2013-07-30 |
Incidental Mutation