Incidental Mutation 'IGL00772:Tmed11'
| ID |
14484 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Tmed11
|
| Ensembl Gene |
ENSMUSG00000004821 |
| Gene Name |
transmembrane p24 trafficking protein 11 |
| Synonyms |
1810008K16Rik |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.835)
|
| Stock # |
IGL00772
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
108925101-108943229 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 108934031 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 55
(D55G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000004943
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000004943]
|
| AlphaFold |
Q9D2R4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000004943
AA Change: D55G
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000004943
Gene: ENSMUSG00000004821
AA Change: D55G
| Domain | Start | End | E-Value | Type |
|---|
|
EMP24_GP25L
|
17 |
210 |
1.11e-59 |
SMART |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 25 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Als2 |
A |
T |
1: 59,209,055 (GRCm39) |
C1501* |
probably null |
Het |
| Ap3b2 |
T |
C |
7: 81,121,697 (GRCm39) |
E513G |
probably damaging |
Het |
| Cdh19 |
T |
C |
1: 110,876,982 (GRCm39) |
D119G |
probably damaging |
Het |
| Clasp2 |
A |
G |
9: 113,735,060 (GRCm39) |
|
probably benign |
Het |
| Cobl |
A |
G |
11: 12,216,985 (GRCm39) |
M419T |
probably benign |
Het |
| Crygd |
C |
T |
1: 65,101,250 (GRCm39) |
R115Q |
probably benign |
Het |
| Ctu2 |
T |
C |
8: 123,203,977 (GRCm39) |
|
probably benign |
Het |
| Dnah2 |
A |
C |
11: 69,342,083 (GRCm39) |
Y2968D |
probably damaging |
Het |
| Eme1 |
A |
G |
11: 94,536,277 (GRCm39) |
L564P |
probably damaging |
Het |
| Faim |
G |
A |
9: 98,874,218 (GRCm39) |
G15R |
probably damaging |
Het |
| Folh1 |
A |
G |
7: 86,380,992 (GRCm39) |
S494P |
probably damaging |
Het |
| Fras1 |
T |
A |
5: 96,783,971 (GRCm39) |
I825N |
probably benign |
Het |
| Grk1 |
A |
G |
8: 13,455,349 (GRCm39) |
T78A |
probably benign |
Het |
| Lipi |
A |
T |
16: 75,347,254 (GRCm39) |
|
probably benign |
Het |
| Mak |
A |
T |
13: 41,209,296 (GRCm39) |
|
probably benign |
Het |
| Prkd1 |
T |
C |
12: 50,430,199 (GRCm39) |
E636G |
probably damaging |
Het |
| Psmd1 |
T |
C |
1: 86,017,920 (GRCm39) |
|
probably benign |
Het |
| Scara5 |
G |
A |
14: 65,908,011 (GRCm39) |
|
probably benign |
Het |
| Skint8 |
A |
G |
4: 111,796,120 (GRCm39) |
I265V |
probably benign |
Het |
| Slc48a1 |
A |
G |
15: 97,687,835 (GRCm39) |
Y63C |
probably damaging |
Het |
| Slc4a2 |
G |
T |
5: 24,640,194 (GRCm39) |
V598L |
probably damaging |
Het |
| Smo |
A |
T |
6: 29,758,893 (GRCm39) |
K565* |
probably null |
Het |
| Spink5 |
A |
G |
18: 44,139,487 (GRCm39) |
I617V |
probably benign |
Het |
| Tro |
A |
G |
X: 149,438,321 (GRCm39) |
V112A |
probably benign |
Het |
| Utrn |
G |
A |
10: 12,524,929 (GRCm39) |
R2185C |
probably benign |
Het |
|
| Other mutations in Tmed11 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01612:Tmed11
|
APN |
5 |
108,927,750 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R0109:Tmed11
|
UTSW |
5 |
108,925,278 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0109:Tmed11
|
UTSW |
5 |
108,925,278 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0725:Tmed11
|
UTSW |
5 |
108,926,855 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0836:Tmed11
|
UTSW |
5 |
108,943,175 (GRCm39) |
start codon destroyed |
probably null |
0.47 |
|
R1195:Tmed11
|
UTSW |
5 |
108,926,885 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R1195:Tmed11
|
UTSW |
5 |
108,926,885 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R1195:Tmed11
|
UTSW |
5 |
108,926,885 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R1551:Tmed11
|
UTSW |
5 |
108,927,680 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1815:Tmed11
|
UTSW |
5 |
108,925,291 (GRCm39) |
missense |
probably benign |
|
|
R2004:Tmed11
|
UTSW |
5 |
108,934,000 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R2121:Tmed11
|
UTSW |
5 |
108,943,198 (GRCm39) |
unclassified |
probably benign |
|
|
R3116:Tmed11
|
UTSW |
5 |
108,927,705 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R4896:Tmed11
|
UTSW |
5 |
108,943,048 (GRCm39) |
splice site |
probably null |
|
|
R5070:Tmed11
|
UTSW |
5 |
108,943,089 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5104:Tmed11
|
UTSW |
5 |
108,925,142 (GRCm39) |
splice site |
probably null |
|
|
R5678:Tmed11
|
UTSW |
5 |
108,934,031 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6967:Tmed11
|
UTSW |
5 |
108,926,780 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8948:Tmed11
|
UTSW |
5 |
108,925,293 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9535:Tmed11
|
UTSW |
5 |
108,926,915 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
Z1176:Tmed11
|
UTSW |
5 |
108,925,186 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
| Posted On |
2012-12-06 |
Incidental Mutation