Incidental Mutation 'R0311:Tmx4'
| ID |
25165 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tmx4
|
| Ensembl Gene |
ENSMUSG00000034723 |
| Gene Name |
thioredoxin-related transmembrane protein 4 |
| Synonyms |
2810417D04Rik, Txndc13, D2Bwg1356e, 4930500L08Rik |
| MMRRC Submission |
038521-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.062)
|
| Stock # |
R0311 (G1)
|
| Quality Score |
177 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
134436421-134486041 bp(-) (GRCm39) |
| Type of Mutation |
makesense |
| DNA Base Change (assembly) |
T to A
at 134440446 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Stop codon to Leucine
at position 336
(*336L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000045154
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000038228]
|
| AlphaFold |
Q8C0L0 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000038228
AA Change: *336L
|
| SMART Domains |
Protein: ENSMUSP00000045154
Gene: ENSMUSG00000034723
AA Change: *336L
| 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 |
0.8766 |
| Coding Region Coverage |
- 1x: 98.9%
- 3x: 97.9%
- 10x: 95.6%
- 20x: 91.6%
|
| Validation Efficiency |
100% (43/43) |
| 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: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca15 |
A |
C |
7: 120,002,127 (GRCm39) |
M1547L |
probably damaging |
Het |
| Abcb4 |
A |
G |
5: 8,984,243 (GRCm39) |
K658E |
probably benign |
Het |
| Abr |
A |
G |
11: 76,399,953 (GRCm39) |
S15P |
possibly damaging |
Het |
| Adgrb2 |
G |
C |
4: 129,910,922 (GRCm39) |
A1168P |
probably damaging |
Het |
| Adgre4 |
A |
T |
17: 56,109,010 (GRCm39) |
E339V |
probably benign |
Het |
| Asprv1 |
T |
C |
6: 86,605,822 (GRCm39) |
W223R |
probably damaging |
Het |
| Ccdc89 |
A |
G |
7: 90,075,901 (GRCm39) |
E37G |
probably damaging |
Het |
| Cd48 |
C |
A |
1: 171,527,148 (GRCm39) |
Y191* |
probably null |
Het |
| Chd4 |
T |
C |
6: 125,078,628 (GRCm39) |
I257T |
probably benign |
Het |
| Clca4b |
T |
C |
3: 144,638,257 (GRCm39) |
M2V |
probably benign |
Het |
| Dnah11 |
A |
T |
12: 118,090,868 (GRCm39) |
D1025E |
probably benign |
Het |
| Erich5 |
A |
G |
15: 34,473,085 (GRCm39) |
*363W |
probably null |
Het |
| Etl4 |
A |
G |
2: 20,811,940 (GRCm39) |
D1341G |
probably damaging |
Het |
| Fbxw11 |
A |
G |
11: 32,672,083 (GRCm39) |
T184A |
probably benign |
Het |
| Fktn |
A |
G |
4: 53,744,620 (GRCm39) |
Q300R |
probably benign |
Het |
| G3bp1 |
T |
C |
11: 55,389,452 (GRCm39) |
F383L |
probably damaging |
Het |
| Gdpd3 |
G |
A |
7: 126,366,361 (GRCm39) |
R66Q |
possibly damaging |
Het |
| Hexb |
A |
G |
13: 97,320,327 (GRCm39) |
|
probably benign |
Het |
| Kdm4b |
A |
G |
17: 56,693,200 (GRCm39) |
R346G |
probably benign |
Het |
| Mbtd1 |
T |
A |
11: 93,812,183 (GRCm39) |
|
probably null |
Het |
| Med23 |
T |
A |
10: 24,773,256 (GRCm39) |
C653S |
possibly damaging |
Het |
| Nwd2 |
A |
T |
5: 63,962,341 (GRCm39) |
I642L |
probably damaging |
Het |
| Or5b12 |
T |
A |
19: 12,897,460 (GRCm39) |
Y71F |
possibly damaging |
Het |
| Or5b21 |
A |
G |
19: 12,839,233 (GRCm39) |
I31M |
probably benign |
Het |
| Or8b48 |
T |
C |
9: 38,450,593 (GRCm39) |
V134A |
probably benign |
Het |
| Pbld2 |
T |
C |
10: 62,890,286 (GRCm39) |
|
probably null |
Het |
| Pkd1l3 |
C |
G |
8: 110,350,281 (GRCm39) |
D375E |
possibly damaging |
Het |
| Pkd1l3 |
G |
A |
8: 110,350,295 (GRCm39) |
S380N |
probably benign |
Het |
| Plpp2 |
C |
T |
10: 79,363,414 (GRCm39) |
R77K |
probably damaging |
Het |
| Pym1 |
G |
T |
10: 128,601,853 (GRCm39) |
R168L |
possibly damaging |
Het |
| Rbm4 |
T |
C |
19: 4,837,584 (GRCm39) |
Y300C |
probably damaging |
Het |
| Rnf207 |
A |
G |
4: 152,400,236 (GRCm39) |
C175R |
probably damaging |
Het |
| Sema6a |
G |
A |
18: 47,423,112 (GRCm39) |
|
probably null |
Het |
| Speg |
T |
C |
1: 75,407,581 (GRCm39) |
V3196A |
probably damaging |
Het |
| Syne1 |
T |
A |
10: 5,298,943 (GRCm39) |
I1048L |
possibly damaging |
Het |
| Th |
T |
C |
7: 142,449,778 (GRCm39) |
E41G |
probably damaging |
Het |
| Tnfrsf18 |
T |
C |
4: 156,110,872 (GRCm39) |
V10A |
possibly damaging |
Het |
| Tnxb |
A |
T |
17: 34,935,958 (GRCm39) |
I2670F |
probably damaging |
Het |
| Tpx2 |
T |
C |
2: 152,732,412 (GRCm39) |
V562A |
probably damaging |
Het |
| Vmn2r73 |
A |
G |
7: 85,520,997 (GRCm39) |
S324P |
probably benign |
Het |
| Vps18 |
T |
C |
2: 119,127,846 (GRCm39) |
Y890H |
probably benign |
Het |
| Ythdc1 |
G |
A |
5: 86,983,564 (GRCm39) |
D670N |
probably 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 |
|
|
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 |
|
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TCTTTGGCTCCCAAGCACATCAAC -3'
(R):5'- ACAACTTGGCAGGCATCATGGC -3'
Sequencing Primer
(F):5'- TGATGGCTAAGTGCTACACC -3'
(R):5'- CAGGCATCATGGCTGAGG -3'
|
| Posted On |
2013-04-16 |
Incidental Mutation