Incidental Mutation 'IGL00658:Tlcd5'
ID |
14489 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Tlcd5
|
Ensembl Gene |
ENSMUSG00000048503 |
Gene Name |
TLC domain containing 5 |
Synonyms |
LOC235300, Tmem136 |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL00658
|
Quality Score |
|
Status
|
|
Chromosome |
9 |
Chromosomal Location |
43019945-43027865 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 43024786 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Valine
at position 57
(I57V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000150692
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000061833]
[ENSMUST00000213544]
[ENSMUST00000216126]
|
AlphaFold |
Q3TYE7 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000061833
AA Change: I57V
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000051435 Gene: ENSMUSG00000048503 AA Change: I57V
Domain | Start | End | E-Value | Type |
transmembrane domain
|
4 |
26 |
N/A |
INTRINSIC |
TLC
|
29 |
225 |
7.82e-37 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000213544
AA Change: I57V
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000213648
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000216126
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 12 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam26a |
T |
A |
8: 44,021,940 (GRCm39) |
M517L |
probably benign |
Het |
Alms1 |
A |
G |
6: 85,605,943 (GRCm39) |
E2531G |
probably damaging |
Het |
Apob |
A |
T |
12: 8,059,471 (GRCm39) |
H2618L |
probably benign |
Het |
Cfap69 |
A |
T |
5: 5,675,857 (GRCm39) |
D252E |
probably damaging |
Het |
Gm904 |
G |
T |
13: 50,798,758 (GRCm39) |
A76S |
possibly damaging |
Het |
Kansl1 |
G |
A |
11: 104,248,352 (GRCm39) |
T534I |
probably benign |
Het |
Ripor1 |
C |
T |
8: 106,344,749 (GRCm39) |
|
probably benign |
Het |
Scn1a |
T |
C |
2: 66,116,382 (GRCm39) |
Q1439R |
probably damaging |
Het |
Serpina3i |
T |
A |
12: 104,231,429 (GRCm39) |
V22D |
possibly damaging |
Het |
Slc22a2 |
A |
T |
17: 12,834,202 (GRCm39) |
D490V |
probably benign |
Het |
Ttn |
G |
A |
2: 76,727,616 (GRCm39) |
|
probably benign |
Het |
Vegfc |
T |
C |
8: 54,609,983 (GRCm39) |
|
probably benign |
Het |
|
Other mutations in Tlcd5 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02010:Tlcd5
|
APN |
9 |
43,022,859 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02649:Tlcd5
|
APN |
9 |
43,022,783 (GRCm39) |
missense |
probably benign |
0.00 |
R0363:Tlcd5
|
UTSW |
9 |
43,023,048 (GRCm39) |
missense |
probably damaging |
1.00 |
R0694:Tlcd5
|
UTSW |
9 |
43,022,921 (GRCm39) |
nonsense |
probably null |
|
R1203:Tlcd5
|
UTSW |
9 |
43,022,775 (GRCm39) |
missense |
probably benign |
0.09 |
R1534:Tlcd5
|
UTSW |
9 |
43,022,923 (GRCm39) |
missense |
probably damaging |
1.00 |
R3956:Tlcd5
|
UTSW |
9 |
43,022,808 (GRCm39) |
missense |
probably damaging |
0.99 |
R6044:Tlcd5
|
UTSW |
9 |
43,024,903 (GRCm39) |
missense |
probably benign |
0.33 |
R7437:Tlcd5
|
UTSW |
9 |
43,023,080 (GRCm39) |
nonsense |
probably null |
|
R8025:Tlcd5
|
UTSW |
9 |
43,022,848 (GRCm39) |
missense |
probably benign |
0.44 |
R9031:Tlcd5
|
UTSW |
9 |
43,022,664 (GRCm39) |
missense |
probably benign |
|
R9032:Tlcd5
|
UTSW |
9 |
43,022,664 (GRCm39) |
missense |
probably benign |
|
R9079:Tlcd5
|
UTSW |
9 |
43,022,664 (GRCm39) |
missense |
probably benign |
|
R9080:Tlcd5
|
UTSW |
9 |
43,022,664 (GRCm39) |
missense |
probably benign |
|
R9084:Tlcd5
|
UTSW |
9 |
43,022,664 (GRCm39) |
missense |
probably benign |
|
R9086:Tlcd5
|
UTSW |
9 |
43,022,664 (GRCm39) |
missense |
probably benign |
|
|
Posted On |
2012-12-06 |