Incidental Mutation 'IGL02895:Tmem74b'
| ID |
363385 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Tmem74b
|
| Ensembl Gene |
ENSMUSG00000044364 |
| Gene Name |
transmembrane protein 74B |
| Synonyms |
5430405G05Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.100)
|
| Stock # |
IGL02895
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
151543928-151554077 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 151548311 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Glycine
at position 13
(S13G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000105498
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000060196]
[ENSMUST00000109872]
|
| AlphaFold |
A2AU34 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000060196
AA Change: S13G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000060017
Gene: ENSMUSG00000044364
AA Change: S13G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Neurensin
|
67 |
191 |
7.3e-13 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000109872
AA Change: S13G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000105498
Gene: ENSMUSG00000044364
AA Change: S13G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
69 |
82 |
N/A |
INTRINSIC |
|
Pfam:Neurensin
|
85 |
186 |
2.1e-10 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 19 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ahctf1 |
C |
T |
1: 179,621,376 (GRCm39) |
E130K |
probably damaging |
Het |
| Atf7ip |
C |
A |
6: 136,537,686 (GRCm39) |
S306R |
probably damaging |
Het |
| Cpd |
A |
G |
11: 76,676,029 (GRCm39) |
V1208A |
probably benign |
Het |
| Cplane1 |
A |
G |
15: 8,261,591 (GRCm39) |
|
probably benign |
Het |
| Ctsl |
C |
T |
13: 64,514,326 (GRCm39) |
A195T |
probably damaging |
Het |
| Dennd2c |
T |
C |
3: 103,044,519 (GRCm39) |
Y367H |
possibly damaging |
Het |
| Endod1 |
T |
A |
9: 14,268,166 (GRCm39) |
T440S |
probably benign |
Het |
| Gm12695 |
T |
C |
4: 96,612,186 (GRCm39) |
R526G |
probably damaging |
Het |
| Ighv1-39 |
T |
C |
12: 114,878,302 (GRCm39) |
T90A |
probably damaging |
Het |
| Kdm2a |
G |
A |
19: 4,412,930 (GRCm39) |
R19C |
probably damaging |
Het |
| Klra1 |
C |
T |
6: 130,352,203 (GRCm39) |
E180K |
possibly damaging |
Het |
| Odam |
A |
G |
5: 88,033,723 (GRCm39) |
Q21R |
probably benign |
Het |
| Or4c11c |
A |
G |
2: 88,661,986 (GRCm39) |
Y175C |
probably damaging |
Het |
| Or8b8 |
G |
A |
9: 37,809,278 (GRCm39) |
V193I |
probably benign |
Het |
| Plk1 |
A |
G |
7: 121,768,389 (GRCm39) |
E504G |
possibly damaging |
Het |
| Rtl3 |
T |
C |
X: 105,883,150 (GRCm39) |
I37M |
possibly damaging |
Het |
| Srebf2 |
A |
G |
15: 82,031,668 (GRCm39) |
E22G |
possibly damaging |
Het |
| Utp14b |
T |
C |
1: 78,642,324 (GRCm39) |
V74A |
possibly damaging |
Het |
| Znrf3 |
T |
C |
11: 5,239,085 (GRCm39) |
M93V |
probably damaging |
Het |
|
| Other mutations in Tmem74b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
R0445:Tmem74b
|
UTSW |
2 |
151,548,879 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1054:Tmem74b
|
UTSW |
2 |
151,548,339 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4658:Tmem74b
|
UTSW |
2 |
151,548,561 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6018:Tmem74b
|
UTSW |
2 |
151,548,639 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Tmem74b
|
UTSW |
2 |
151,548,700 (GRCm39) |
nonsense |
probably null |
|
|
Z1177:Tmem74b
|
UTSW |
2 |
151,548,489 (GRCm39) |
missense |
probably damaging |
0.98 |
|
| Posted On |
2015-12-18 |
Incidental Mutation