Incidental Mutation 'IGL00496:Tmed9'
| ID |
14485 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Tmed9
|
| Ensembl Gene |
ENSMUSG00000058569 |
| Gene Name |
transmembrane p24 trafficking protein 9 |
| Synonyms |
2400003B06Rik, p24alpha2 |
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.278)
|
| Stock # |
IGL00496
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
13 |
| Chromosomal Location |
55740948-55745510 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 55741334 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 43
(Y43H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000153554
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000109905]
[ENSMUST00000224741]
|
| AlphaFold |
Q99KF1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000109905
AA Change: Y69H
PolyPhen 2
Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
|
| SMART Domains |
Protein: ENSMUSP00000105531
Gene: ENSMUSG00000058569
AA Change: Y69H
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
4 |
21 |
N/A |
INTRINSIC |
|
EMP24_GP25L
|
37 |
230 |
2.43e-79 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000224634
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000224741
AA Change: Y43H
PolyPhen 2
Score 0.024 (Sensitivity: 0.95; Specificity: 0.81)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000225723
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000225888
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of a family of genes encoding transport proteins located in the endoplasmic reticulum and the Golgi. A similar gene in mouse is the target of microRNA miR-296, which is part of an imprinted cluster. [provided by RefSeq, Jul 2016]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933434E20Rik |
G |
A |
3: 89,960,400 (GRCm39) |
V14M |
possibly damaging |
Het |
| Adgrg6 |
C |
A |
10: 14,326,322 (GRCm39) |
|
probably null |
Het |
| Ankmy1 |
A |
G |
1: 92,813,988 (GRCm39) |
L397P |
probably damaging |
Het |
| Atp6v1c1 |
A |
G |
15: 38,687,100 (GRCm39) |
K232E |
probably damaging |
Het |
| Cnfn |
G |
T |
7: 25,067,385 (GRCm39) |
|
probably benign |
Het |
| Copb2 |
A |
G |
9: 98,452,371 (GRCm39) |
T52A |
probably benign |
Het |
| Daw1 |
A |
C |
1: 83,174,957 (GRCm39) |
L152F |
probably damaging |
Het |
| Gpr87 |
A |
T |
3: 59,087,211 (GRCm39) |
I98K |
probably damaging |
Het |
| Il17a |
G |
A |
1: 20,802,507 (GRCm39) |
R72H |
probably damaging |
Het |
| Lmtk2 |
A |
G |
5: 144,111,512 (GRCm39) |
Q744R |
probably benign |
Het |
| Micall1 |
G |
A |
15: 78,999,221 (GRCm39) |
|
probably benign |
Het |
| Micall2 |
T |
C |
5: 139,702,083 (GRCm39) |
T387A |
probably benign |
Het |
| Nckap1 |
T |
A |
2: 80,336,546 (GRCm39) |
I1057F |
possibly damaging |
Het |
| Nr1h3 |
T |
C |
2: 91,020,544 (GRCm39) |
D263G |
probably damaging |
Het |
| Nrip1 |
A |
T |
16: 76,090,591 (GRCm39) |
V322E |
possibly damaging |
Het |
| Pck1 |
T |
C |
2: 172,995,911 (GRCm39) |
|
probably null |
Het |
| Ppp3r2 |
A |
G |
4: 49,681,773 (GRCm39) |
I59T |
possibly damaging |
Het |
| Pradc1 |
A |
G |
6: 85,424,948 (GRCm39) |
|
probably null |
Het |
| Psmd14 |
A |
G |
2: 61,591,026 (GRCm39) |
Y32C |
probably damaging |
Het |
| Rrp12 |
A |
C |
19: 41,866,466 (GRCm39) |
|
probably null |
Het |
| Scaf8 |
A |
T |
17: 3,221,409 (GRCm39) |
I299F |
unknown |
Het |
| Selenoo |
A |
G |
15: 88,979,875 (GRCm39) |
D341G |
probably damaging |
Het |
| Slc1a6 |
C |
A |
10: 78,629,142 (GRCm39) |
N186K |
probably damaging |
Het |
| Smarcc2 |
T |
A |
10: 128,298,924 (GRCm39) |
S102R |
probably damaging |
Het |
| Stambpl1 |
T |
A |
19: 34,217,430 (GRCm39) |
V423E |
probably damaging |
Het |
| Svep1 |
A |
C |
4: 58,069,001 (GRCm39) |
C2928W |
possibly damaging |
Het |
| Ttn |
T |
C |
2: 76,571,091 (GRCm39) |
T24855A |
possibly damaging |
Het |
| Usp7 |
A |
G |
16: 8,512,977 (GRCm39) |
V795A |
probably damaging |
Het |
| Wdr17 |
A |
C |
8: 55,112,614 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Tmed9 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02178:Tmed9
|
APN |
13 |
55,741,108 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
IGL03060:Tmed9
|
APN |
13 |
55,743,321 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
IGL03323:Tmed9
|
APN |
13 |
55,744,691 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2190:Tmed9
|
UTSW |
13 |
55,741,156 (GRCm39) |
missense |
probably benign |
0.01 |
|
R3038:Tmed9
|
UTSW |
13 |
55,744,792 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3413:Tmed9
|
UTSW |
13 |
55,743,387 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7298:Tmed9
|
UTSW |
13 |
55,741,107 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R7751:Tmed9
|
UTSW |
13 |
55,741,054 (GRCm39) |
missense |
not run |
|
|
R7800:Tmed9
|
UTSW |
13 |
55,743,345 (GRCm39) |
missense |
probably benign |
0.03 |
|
R8343:Tmed9
|
UTSW |
13 |
55,742,617 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8955:Tmed9
|
UTSW |
13 |
55,744,775 (GRCm39) |
missense |
probably benign |
0.11 |
|
| Posted On |
2012-12-06 |
Incidental Mutation