Incidental Mutation 'IGL01793:Tmx1'
| ID |
155276 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Tmx1
|
| Ensembl Gene |
ENSMUSG00000021072 |
| Gene Name |
thioredoxin-related transmembrane protein 1 |
| Synonyms |
Txndc1, 2810425A04Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.183)
|
| Stock # |
IGL01793
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
12 |
| Chromosomal Location |
70499928-70514398 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 70505561 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 108
(D108G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000021471
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021471]
|
| AlphaFold |
Q8VBT0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000021471
AA Change: D108G
PolyPhen 2
Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000021471
Gene: ENSMUSG00000021072
AA Change: D108G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
7 |
21 |
N/A |
INTRINSIC |
|
Pfam:Thioredoxin
|
30 |
130 |
2e-22 |
PFAM |
|
transmembrane domain
|
181 |
203 |
N/A |
INTRINSIC |
|
low complexity region
|
234 |
255 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000160865
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000162277
AA Change: D48G
|
| SMART Domains |
Protein: ENSMUSP00000123893
Gene: ENSMUSG00000021072
AA Change: D48G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Thioredoxin
|
1 |
71 |
9.2e-11 |
PFAM |
|
| 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 encodes a member of the disulfide isomerase (PDI) family of endoplasmic reticulum (ER) proteins that catalyze protein folding and thiol-disulfide interchange reactions. The encoded protein has an N-terminal ER-signal sequence, a catalytically active thioredoxin domain, and one transmembrane domain. Unlike most members of this gene family, it lacks a C-terminal ER-retention sequence. The mature membrane-bound protein can both oxidize and reduce disulfide bonds and acts selectively on membrane-associated polypeptides. [provided by RefSeq, Jan 2017]
PHENOTYPE: No notable phenotype was detected in a high-throughput screen of homozygous mice. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aox1 |
A |
G |
1: 58,375,783 (GRCm39) |
I871V |
possibly damaging |
Het |
| Bbs7 |
A |
T |
3: 36,659,831 (GRCm39) |
|
probably null |
Het |
| D930020B18Rik |
T |
C |
10: 121,507,736 (GRCm39) |
I158T |
probably damaging |
Het |
| Drc7 |
T |
C |
8: 95,797,905 (GRCm39) |
I441T |
probably benign |
Het |
| Etl4 |
T |
C |
2: 20,748,709 (GRCm39) |
I147T |
possibly damaging |
Het |
| Fat1 |
G |
A |
8: 45,442,149 (GRCm39) |
M1150I |
probably benign |
Het |
| Fbn1 |
T |
C |
2: 125,229,213 (GRCm39) |
S523G |
possibly damaging |
Het |
| Gramd1a |
C |
T |
7: 30,833,838 (GRCm39) |
|
probably null |
Het |
| Hc |
A |
G |
2: 34,918,202 (GRCm39) |
Y694H |
probably damaging |
Het |
| Kif6 |
T |
A |
17: 49,931,521 (GRCm39) |
I73N |
probably damaging |
Het |
| Large1 |
A |
G |
8: 73,585,809 (GRCm39) |
|
probably benign |
Het |
| Luzp2 |
G |
T |
7: 54,821,997 (GRCm39) |
L171F |
probably damaging |
Het |
| Naaladl1 |
C |
A |
19: 6,159,661 (GRCm39) |
|
probably null |
Het |
| Otop1 |
G |
A |
5: 38,457,215 (GRCm39) |
A325T |
possibly damaging |
Het |
| Parp8 |
T |
A |
13: 117,047,415 (GRCm39) |
Y219F |
probably damaging |
Het |
| Pkp3 |
A |
G |
7: 140,668,817 (GRCm39) |
I660V |
probably benign |
Het |
| Plin3 |
T |
C |
17: 56,588,540 (GRCm39) |
N238S |
probably benign |
Het |
| Ppef2 |
A |
T |
5: 92,394,615 (GRCm39) |
D186E |
probably damaging |
Het |
| Rab40c |
G |
A |
17: 26,103,596 (GRCm39) |
L156F |
probably damaging |
Het |
| Scnn1a |
T |
C |
6: 125,320,666 (GRCm39) |
V547A |
probably benign |
Het |
| Spag6l |
A |
G |
16: 16,599,721 (GRCm39) |
V247A |
probably damaging |
Het |
| Syne1 |
T |
C |
10: 5,302,191 (GRCm39) |
E853G |
possibly damaging |
Het |
| Synj2 |
C |
T |
17: 6,077,500 (GRCm39) |
R460* |
probably null |
Het |
| Synj2 |
T |
A |
17: 6,088,321 (GRCm39) |
H1457Q |
probably benign |
Het |
| Syt1 |
T |
C |
10: 108,419,836 (GRCm39) |
D275G |
possibly damaging |
Het |
| Vmn1r180 |
T |
C |
7: 23,652,668 (GRCm39) |
V277A |
probably benign |
Het |
| Vmn1r83 |
C |
T |
7: 12,055,504 (GRCm39) |
M184I |
probably benign |
Het |
| Zfp750 |
G |
T |
11: 121,404,810 (GRCm39) |
P22T |
probably damaging |
Het |
| Zscan2 |
A |
G |
7: 80,524,692 (GRCm39) |
I138V |
probably null |
Het |
|
| Other mutations in Tmx1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01395:Tmx1
|
APN |
12 |
70,507,251 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R0335:Tmx1
|
UTSW |
12 |
70,500,030 (GRCm39) |
missense |
probably benign |
|
|
R0454:Tmx1
|
UTSW |
12 |
70,499,947 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R2921:Tmx1
|
UTSW |
12 |
70,512,895 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2922:Tmx1
|
UTSW |
12 |
70,512,895 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2923:Tmx1
|
UTSW |
12 |
70,512,895 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7276:Tmx1
|
UTSW |
12 |
70,512,917 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R7293:Tmx1
|
UTSW |
12 |
70,507,325 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7339:Tmx1
|
UTSW |
12 |
70,505,624 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8758:Tmx1
|
UTSW |
12 |
70,502,788 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
Z1176:Tmx1
|
UTSW |
12 |
70,499,959 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
| Posted On |
2014-02-04 |
Incidental Mutation