Incidental Mutation 'IGL00501:Tmem104'
| ID |
6006 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Tmem104
|
| Ensembl Gene |
ENSMUSG00000045980 |
| Gene Name |
transmembrane protein 104 |
| Synonyms |
C630005D06Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL00501
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
115078313-115137849 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 115134763 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 433
(I433T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000056805
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000061450]
[ENSMUST00000100235]
|
| AlphaFold |
Q3TB48 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000061450
AA Change: I433T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000056805
Gene: ENSMUSG00000045980
AA Change: I433T
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Aa_trans
|
13 |
77 |
3.4e-10 |
PFAM |
|
low complexity region
|
84 |
100 |
N/A |
INTRINSIC |
|
Pfam:Aa_trans
|
128 |
487 |
4.5e-15 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000100235
AA Change: I432T
PolyPhen 2
Score 0.962 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000097807
Gene: ENSMUSG00000045980
AA Change: I432T
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Aa_trans
|
13 |
81 |
5.5e-11 |
PFAM |
|
low complexity region
|
84 |
100 |
N/A |
INTRINSIC |
|
Pfam:Aa_trans
|
127 |
485 |
1.2e-14 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156230
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acat1 |
T |
C |
9: 53,493,895 (GRCm39) |
I409V |
probably damaging |
Het |
| Adck1 |
A |
G |
12: 88,335,192 (GRCm39) |
N26S |
probably benign |
Het |
| Adgrf5 |
G |
A |
17: 43,760,806 (GRCm39) |
A834T |
possibly damaging |
Het |
| Agpat5 |
T |
C |
8: 18,926,148 (GRCm39) |
|
probably null |
Het |
| Ano8 |
A |
C |
8: 71,931,793 (GRCm39) |
|
probably null |
Het |
| Baz2a |
T |
A |
10: 127,950,494 (GRCm39) |
M476K |
probably benign |
Het |
| Cgas |
G |
A |
9: 78,342,869 (GRCm39) |
A311V |
probably damaging |
Het |
| Col16a1 |
A |
G |
4: 129,988,345 (GRCm39) |
|
probably null |
Het |
| Cyp3a13 |
A |
T |
5: 137,910,195 (GRCm39) |
I113N |
probably benign |
Het |
| Dstn |
A |
G |
2: 143,784,094 (GRCm39) |
T146A |
probably benign |
Het |
| Eif2ak1 |
A |
T |
5: 143,826,288 (GRCm39) |
M434L |
probably damaging |
Het |
| Gba2 |
G |
A |
4: 43,568,477 (GRCm39) |
A663V |
probably damaging |
Het |
| Gja10 |
T |
C |
4: 32,601,230 (GRCm39) |
T385A |
possibly damaging |
Het |
| Gm42878 |
A |
C |
5: 121,671,406 (GRCm39) |
I209R |
probably damaging |
Het |
| Grk1 |
T |
A |
8: 13,457,835 (GRCm39) |
V245E |
probably damaging |
Het |
| H2az1 |
T |
C |
3: 137,571,357 (GRCm39) |
V53A |
probably damaging |
Het |
| Hycc1 |
A |
G |
5: 24,190,843 (GRCm39) |
|
probably benign |
Het |
| Kctd16 |
G |
A |
18: 40,390,440 (GRCm39) |
|
probably benign |
Het |
| Klhdc8b |
C |
T |
9: 108,326,105 (GRCm39) |
R263H |
probably benign |
Het |
| Lcn8 |
T |
C |
2: 25,545,119 (GRCm39) |
|
probably benign |
Het |
| Ldlr |
T |
C |
9: 21,646,657 (GRCm39) |
|
probably null |
Het |
| Lrrc40 |
T |
C |
3: 157,766,919 (GRCm39) |
F458S |
probably damaging |
Het |
| Lypla1 |
T |
A |
1: 4,898,810 (GRCm39) |
H35Q |
probably damaging |
Het |
| Mink1 |
C |
T |
11: 70,494,638 (GRCm39) |
T273I |
probably damaging |
Het |
| Neb |
A |
G |
2: 52,185,356 (GRCm39) |
F959L |
probably benign |
Het |
| Nedd4l |
A |
T |
18: 65,341,163 (GRCm39) |
D704V |
probably damaging |
Het |
| Peak1 |
C |
T |
9: 56,134,610 (GRCm39) |
E1274K |
probably damaging |
Het |
| Prkcz |
G |
T |
4: 155,378,858 (GRCm39) |
|
probably benign |
Het |
| Rabgap1 |
T |
A |
2: 37,359,558 (GRCm39) |
N40K |
probably damaging |
Het |
| Serpinb1c |
T |
C |
13: 33,067,958 (GRCm39) |
K213E |
probably damaging |
Het |
| Spink5 |
A |
G |
18: 44,110,806 (GRCm39) |
T126A |
probably damaging |
Het |
| Tanc2 |
T |
C |
11: 105,814,046 (GRCm39) |
V1830A |
probably benign |
Het |
| Trim10 |
G |
A |
17: 37,187,939 (GRCm39) |
R385K |
probably benign |
Het |
| Zbtb44 |
A |
G |
9: 30,965,606 (GRCm39) |
I339V |
possibly damaging |
Het |
|
| Other mutations in Tmem104 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02948:Tmem104
|
APN |
11 |
115,088,122 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03010:Tmem104
|
APN |
11 |
115,134,360 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0107:Tmem104
|
UTSW |
11 |
115,093,006 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0399:Tmem104
|
UTSW |
11 |
115,092,134 (GRCm39) |
splice site |
probably benign |
|
|
R0534:Tmem104
|
UTSW |
11 |
115,091,654 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2034:Tmem104
|
UTSW |
11 |
115,134,373 (GRCm39) |
missense |
probably benign |
0.42 |
|
R2037:Tmem104
|
UTSW |
11 |
115,092,221 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R4095:Tmem104
|
UTSW |
11 |
115,134,749 (GRCm39) |
nonsense |
probably null |
|
|
R4640:Tmem104
|
UTSW |
11 |
115,134,550 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4981:Tmem104
|
UTSW |
11 |
115,095,962 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5011:Tmem104
|
UTSW |
11 |
115,134,312 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5086:Tmem104
|
UTSW |
11 |
115,092,227 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5522:Tmem104
|
UTSW |
11 |
115,079,149 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5602:Tmem104
|
UTSW |
11 |
115,095,950 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6025:Tmem104
|
UTSW |
11 |
115,096,349 (GRCm39) |
nonsense |
probably null |
|
|
R6247:Tmem104
|
UTSW |
11 |
115,134,819 (GRCm39) |
missense |
probably benign |
|
|
R6522:Tmem104
|
UTSW |
11 |
115,134,579 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7962:Tmem104
|
UTSW |
11 |
115,134,307 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7980:Tmem104
|
UTSW |
11 |
115,134,580 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8323:Tmem104
|
UTSW |
11 |
115,134,199 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8552:Tmem104
|
UTSW |
11 |
115,088,144 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9012:Tmem104
|
UTSW |
11 |
115,092,144 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9363:Tmem104
|
UTSW |
11 |
115,134,691 (GRCm39) |
missense |
probably benign |
0.14 |
|
R9507:Tmem104
|
UTSW |
11 |
115,091,699 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2012-04-20 |
Incidental Mutation