Incidental Mutation 'P4748:Tmed4'
| ID |
26546 |
| 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 # |
P4748 ()
of strain
712
|
| 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: 99.0%
- 3x: 98.2%
- 10x: 96.5%
- 20x: 94.5%
|
| Validation Efficiency |
87% (26/30) |
| Allele List at MGI |
All alleles(1) : Targeted, knock-out(1) |
| Other mutations in this stock |
Total: 23 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2010315B03Rik |
T |
C |
9: 124,057,789 (GRCm39) |
|
probably benign |
Het |
| 4930556J24Rik |
A |
T |
11: 3,888,178 (GRCm39) |
|
probably null |
Het |
| Acoxl |
T |
C |
2: 127,928,264 (GRCm39) |
|
probably benign |
Het |
| Ahi1 |
G |
C |
10: 20,848,009 (GRCm39) |
R472S |
probably damaging |
Het |
| Akap10 |
A |
G |
11: 61,763,846 (GRCm39) |
L662P |
possibly damaging |
Het |
| Arhgef10 |
C |
T |
8: 14,978,925 (GRCm39) |
T64M |
possibly damaging |
Het |
| Ccr4 |
C |
T |
9: 114,321,906 (GRCm39) |
G53D |
probably damaging |
Het |
| Cdc25a |
T |
C |
9: 109,713,176 (GRCm39) |
|
probably benign |
Het |
| Clec4n |
A |
C |
6: 123,221,499 (GRCm39) |
Q114H |
probably damaging |
Het |
| Cmya5 |
A |
G |
13: 93,210,983 (GRCm39) |
|
probably benign |
Het |
| Depdc1a |
T |
C |
3: 159,228,184 (GRCm39) |
V312A |
probably damaging |
Het |
| Ephb6 |
C |
T |
6: 41,594,219 (GRCm39) |
P583L |
probably damaging |
Het |
| Klra8 |
A |
T |
6: 130,099,007 (GRCm39) |
D185E |
possibly damaging |
Het |
| Meis2 |
T |
A |
2: 115,694,961 (GRCm39) |
Q394L |
probably benign |
Het |
| Or2t47 |
G |
A |
11: 58,442,348 (GRCm39) |
T239I |
probably damaging |
Het |
| Pzp |
C |
T |
6: 128,467,052 (GRCm39) |
G1107D |
probably damaging |
Het |
| Ralgapa2 |
C |
T |
2: 146,188,731 (GRCm39) |
W1350* |
probably null |
Het |
| Scand1 |
C |
A |
2: 156,153,865 (GRCm39) |
R135L |
probably damaging |
Het |
| Spopl |
A |
T |
2: 23,401,455 (GRCm39) |
M351K |
probably benign |
Het |
| Ube2e2 |
A |
G |
14: 18,630,297 (GRCm38) |
|
probably null |
Het |
| Ubxn4 |
G |
A |
1: 128,190,641 (GRCm39) |
E256K |
probably benign |
Het |
| Usp51 |
GATGCAT |
GAT |
X: 151,791,227 (GRCm39) |
|
probably null |
Het |
| Wrap53 |
A |
T |
11: 69,453,031 (GRCm39) |
D425E |
probably 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 |
|
|
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 |
2013-04-16 |
Incidental Mutation