Incidental Mutation 'R0033:Tmx4'
ID |
15388 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tmx4
|
Ensembl Gene |
ENSMUSG00000034723 |
Gene Name |
thioredoxin-related transmembrane protein 4 |
Synonyms |
2810417D04Rik, Txndc13, D2Bwg1356e, 4930500L08Rik |
MMRRC Submission |
038327-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.062)
|
Stock # |
R0033 (G1)
|
Quality Score |
|
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
134436421-134486041 bp(-) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
A to T
at 134442918 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000045154
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000038228]
[ENSMUST00000038228]
|
AlphaFold |
Q8C0L0 |
Predicted Effect |
probably null
Transcript: ENSMUST00000038228
|
SMART Domains |
Protein: ENSMUSP00000045154 Gene: ENSMUSG00000034723
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
Pfam:Thioredoxin
|
34 |
134 |
5.9e-14 |
PFAM |
transmembrane domain
|
185 |
207 |
N/A |
INTRINSIC |
low complexity region
|
241 |
255 |
N/A |
INTRINSIC |
low complexity region
|
258 |
279 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000038228
|
SMART Domains |
Protein: ENSMUSP00000045154 Gene: ENSMUSG00000034723
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
Pfam:Thioredoxin
|
34 |
134 |
5.9e-14 |
PFAM |
transmembrane domain
|
185 |
207 |
N/A |
INTRINSIC |
low complexity region
|
241 |
255 |
N/A |
INTRINSIC |
low complexity region
|
258 |
279 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000137377
|
Meta Mutation Damage Score |
0.9755 |
Coding Region Coverage |
- 1x: 80.0%
- 3x: 71.7%
- 10x: 49.2%
- 20x: 29.7%
|
Validation Efficiency |
96% (74/77) |
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, one transmembrane domain and C-terminal ASP/GLU-rich calcium binding domain. Unlike most members of this gene family, it lacks a C-terminal ER-retention sequence. The encoded protein has been shown to have reductase activity in vitro. [provided by RefSeq, Jan 2017]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 29 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Agr3 |
C |
T |
12: 35,978,329 (GRCm39) |
T14M |
possibly damaging |
Het |
Aldh9a1 |
T |
C |
1: 167,184,140 (GRCm39) |
S212P |
probably damaging |
Het |
Ank2 |
T |
A |
3: 126,898,397 (GRCm39) |
|
probably benign |
Het |
Cdkn3 |
C |
A |
14: 47,006,329 (GRCm39) |
Y141* |
probably null |
Het |
Ceacam12 |
T |
G |
7: 17,803,385 (GRCm39) |
|
probably benign |
Het |
Celf1 |
T |
C |
2: 90,831,798 (GRCm39) |
|
probably benign |
Het |
Col6a3 |
A |
G |
1: 90,729,967 (GRCm39) |
S1780P |
probably damaging |
Het |
Cpxm2 |
T |
C |
7: 131,663,886 (GRCm39) |
I346V |
possibly damaging |
Het |
Csf3r |
A |
G |
4: 125,925,677 (GRCm39) |
T151A |
probably benign |
Het |
Ctss |
G |
A |
3: 95,452,888 (GRCm39) |
|
probably benign |
Het |
Erp44 |
T |
C |
4: 48,241,289 (GRCm39) |
|
probably benign |
Het |
Hibch |
A |
G |
1: 52,944,610 (GRCm39) |
K296R |
probably null |
Het |
Katnip |
T |
G |
7: 125,360,999 (GRCm39) |
V103G |
possibly damaging |
Het |
Kirrel3 |
A |
G |
9: 34,912,259 (GRCm39) |
I208V |
probably benign |
Het |
Lrrc8a |
G |
T |
2: 30,145,357 (GRCm39) |
C57F |
probably damaging |
Het |
Ltbp1 |
A |
G |
17: 75,583,504 (GRCm39) |
N435D |
possibly damaging |
Het |
Myo16 |
A |
T |
8: 10,420,955 (GRCm39) |
Y265F |
probably damaging |
Het |
Nckap5 |
A |
G |
1: 125,867,979 (GRCm39) |
|
probably benign |
Het |
Nlrp12 |
A |
C |
7: 3,289,037 (GRCm39) |
S492A |
probably damaging |
Het |
Pwwp2b |
A |
T |
7: 138,834,844 (GRCm39) |
D95V |
possibly damaging |
Het |
Rarg |
T |
A |
15: 102,147,270 (GRCm39) |
I372F |
probably damaging |
Het |
Snrnp200 |
T |
C |
2: 127,079,983 (GRCm39) |
I1920T |
probably damaging |
Het |
Sv2b |
A |
G |
7: 74,767,489 (GRCm39) |
F636L |
probably benign |
Het |
Thra |
G |
A |
11: 98,655,178 (GRCm39) |
V353I |
probably benign |
Het |
Tm7sf2 |
A |
G |
19: 6,116,452 (GRCm39) |
|
probably benign |
Het |
Tnfrsf12a |
A |
G |
17: 23,895,119 (GRCm39) |
|
probably null |
Het |
Uba5 |
T |
A |
9: 103,931,347 (GRCm39) |
T241S |
probably benign |
Het |
Zfp420 |
A |
G |
7: 29,573,987 (GRCm39) |
D69G |
probably benign |
Het |
Zfp64 |
A |
T |
2: 168,767,635 (GRCm39) |
I659N |
possibly damaging |
Het |
|
Other mutations in Tmx4 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
R0033:Tmx4
|
UTSW |
2 |
134,442,918 (GRCm39) |
splice site |
probably null |
|
R0124:Tmx4
|
UTSW |
2 |
134,481,640 (GRCm39) |
critical splice donor site |
probably null |
|
R0311:Tmx4
|
UTSW |
2 |
134,440,446 (GRCm39) |
makesense |
probably null |
|
R0844:Tmx4
|
UTSW |
2 |
134,441,928 (GRCm39) |
critical splice donor site |
probably null |
|
R3804:Tmx4
|
UTSW |
2 |
134,462,497 (GRCm39) |
missense |
probably damaging |
1.00 |
R3964:Tmx4
|
UTSW |
2 |
134,441,981 (GRCm39) |
missense |
possibly damaging |
0.81 |
R3966:Tmx4
|
UTSW |
2 |
134,441,981 (GRCm39) |
missense |
possibly damaging |
0.81 |
R4296:Tmx4
|
UTSW |
2 |
134,440,549 (GRCm39) |
missense |
probably benign |
0.00 |
R6011:Tmx4
|
UTSW |
2 |
134,481,756 (GRCm39) |
missense |
probably damaging |
1.00 |
R6241:Tmx4
|
UTSW |
2 |
134,481,425 (GRCm39) |
intron |
probably benign |
|
R6463:Tmx4
|
UTSW |
2 |
134,462,559 (GRCm39) |
missense |
probably damaging |
0.98 |
R6810:Tmx4
|
UTSW |
2 |
134,462,594 (GRCm39) |
missense |
probably damaging |
0.98 |
R6882:Tmx4
|
UTSW |
2 |
134,485,922 (GRCm39) |
missense |
possibly damaging |
0.53 |
R6912:Tmx4
|
UTSW |
2 |
134,440,719 (GRCm39) |
missense |
probably benign |
0.06 |
R7483:Tmx4
|
UTSW |
2 |
134,481,581 (GRCm39) |
missense |
probably benign |
0.01 |
R7545:Tmx4
|
UTSW |
2 |
134,451,425 (GRCm39) |
missense |
possibly damaging |
0.89 |
R7737:Tmx4
|
UTSW |
2 |
134,481,588 (GRCm39) |
missense |
probably benign |
0.00 |
R7857:Tmx4
|
UTSW |
2 |
134,481,582 (GRCm39) |
missense |
probably benign |
0.00 |
R8177:Tmx4
|
UTSW |
2 |
134,485,822 (GRCm39) |
missense |
probably damaging |
1.00 |
R8266:Tmx4
|
UTSW |
2 |
134,481,461 (GRCm39) |
missense |
unknown |
|
R8473:Tmx4
|
UTSW |
2 |
134,451,444 (GRCm39) |
missense |
probably benign |
0.00 |
R9647:Tmx4
|
UTSW |
2 |
134,481,588 (GRCm39) |
missense |
probably benign |
0.00 |
Z1177:Tmx4
|
UTSW |
2 |
134,440,571 (GRCm39) |
missense |
probably benign |
|
|
Posted On |
2012-12-17 |