Incidental Mutation 'P4717OSA:Tmed4'
| ID |
44001 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tmed4
|
| Ensembl Gene |
ENSMUSG00000004394 |
| Gene Name |
transmembrane p24 trafficking protein 4 |
| Synonyms |
1110014L17Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.142)
|
| Stock # |
P4717OSA (G1)
of strain
634
|
| Quality Score |
225 |
|
Status
|
Validated
(trace)
|
| Chromosome |
11 |
| Chromosomal Location |
6220714-6224837 bp(-) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
T to C
at 6223727 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000121643
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000004508]
[ENSMUST00000132147]
|
| AlphaFold |
Q8R1V4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000004508
|
| SMART Domains |
Protein: ENSMUSP00000004508
Gene: ENSMUSG00000004394
| 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 |
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 95.6%
|
| Validation Efficiency |
100% (27/27) |
| Allele List at MGI |
All alleles(1) : Targeted, knock-out(1) |
| Other mutations in this stock |
Total: 22 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930556J24Rik |
A |
T |
11: 3,888,178 (GRCm39) |
|
probably null |
Het |
| Acsm5 |
A |
T |
7: 119,131,195 (GRCm39) |
E204D |
probably benign |
Het |
| Ahi1 |
G |
C |
10: 20,848,009 (GRCm39) |
R472S |
probably damaging |
Het |
| Bbof1 |
G |
A |
12: 84,473,734 (GRCm39) |
A355T |
probably damaging |
Het |
| Capn10 |
G |
T |
1: 92,867,116 (GRCm39) |
Q115H |
probably damaging |
Het |
| Clec4n |
A |
C |
6: 123,221,499 (GRCm39) |
Q114H |
probably damaging |
Het |
| Col1a2 |
G |
A |
6: 4,518,822 (GRCm39) |
|
probably benign |
Het |
| Depdc1a |
T |
C |
3: 159,228,184 (GRCm39) |
V312A |
probably damaging |
Het |
| Gbp2 |
T |
C |
3: 142,336,357 (GRCm39) |
F236L |
possibly damaging |
Het |
| Glb1l2 |
A |
G |
9: 26,677,317 (GRCm39) |
I527T |
probably damaging |
Het |
| Hhla1 |
A |
G |
15: 65,795,850 (GRCm39) |
L452P |
probably damaging |
Het |
| Mcoln3 |
T |
G |
3: 145,830,504 (GRCm39) |
V78G |
probably damaging |
Het |
| Mylk |
T |
A |
16: 34,797,483 (GRCm39) |
|
probably benign |
Het |
| Nxpe2 |
T |
A |
9: 48,237,677 (GRCm39) |
M193L |
probably benign |
Het |
| Olig1 |
A |
T |
16: 91,066,877 (GRCm39) |
Y38F |
probably damaging |
Het |
| Pkhd1l1 |
T |
C |
15: 44,386,895 (GRCm39) |
V1256A |
probably benign |
Het |
| Pkhd1l1 |
A |
T |
15: 44,391,643 (GRCm39) |
I1570F |
probably damaging |
Het |
| Prss12 |
T |
C |
3: 123,241,267 (GRCm39) |
Y154H |
probably damaging |
Het |
| Rbp3 |
A |
G |
14: 33,677,456 (GRCm39) |
D468G |
probably damaging |
Het |
| Relt |
G |
A |
7: 100,496,788 (GRCm39) |
R360C |
probably damaging |
Het |
| Trhr |
C |
A |
15: 44,060,831 (GRCm39) |
T117K |
probably damaging |
Het |
| Ube2e2 |
A |
G |
14: 18,630,297 (GRCm38) |
|
probably null |
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 |
|
P4748:Tmed4
|
UTSW |
11 |
6,223,727 (GRCm39) |
unclassified |
probably benign |
|
|
R0005:Tmed4
|
UTSW |
11 |
6,221,781 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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'- TCCAACCCTGCCACTGTAGACATAT -3'
(R):5'- CCAACTCCACCAGAATGGCTCTCTT -3'
Sequencing Primer
(F):5'- TGCCACTGTAGACATATACAGAAATC -3'
(R):5'- GTAAGAGGCTCATCAGCCTTAG -3'
|
| Posted On |
2013-05-31 |
Incidental Mutation