Incidental Mutation 'R0844:Tmx4'
| ID |
77281 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tmx4
|
| Ensembl Gene |
ENSMUSG00000034723 |
| Gene Name |
thioredoxin-related transmembrane protein 4 |
| Synonyms |
2810417D04Rik, Txndc13, D2Bwg1356e, 4930500L08Rik |
| MMRRC Submission |
039023-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.057)
|
| Stock # |
R0844 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
134436421-134486041 bp(-) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
A to G
at 134441928 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000045154
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[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 |
noncoding transcript
Transcript: ENSMUST00000137377
|
| Meta Mutation Damage Score |
0.9487 |
| Coding Region Coverage |
- 1x: 99.5%
- 3x: 98.9%
- 10x: 97.7%
- 20x: 95.8%
|
| Validation Efficiency |
100% (27/27) |
| 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: 27 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2700097O09Rik |
T |
C |
12: 55,126,858 (GRCm39) |
D2G |
possibly damaging |
Het |
| Abca5 |
T |
C |
11: 110,210,658 (GRCm39) |
T174A |
probably benign |
Het |
| Asb2 |
T |
C |
12: 103,291,805 (GRCm39) |
H374R |
probably damaging |
Het |
| Clca4b |
A |
G |
3: 144,622,532 (GRCm39) |
I511T |
probably damaging |
Het |
| Cnmd |
G |
A |
14: 79,879,391 (GRCm39) |
T249I |
probably benign |
Het |
| Cyp4a12b |
T |
G |
4: 115,289,721 (GRCm39) |
M196R |
possibly damaging |
Het |
| Ddx60 |
T |
C |
8: 62,440,395 (GRCm39) |
Y1016H |
probably benign |
Het |
| Elapor1 |
T |
C |
3: 108,388,279 (GRCm39) |
|
probably benign |
Het |
| Ero1a |
A |
G |
14: 45,530,457 (GRCm39) |
L325P |
probably damaging |
Het |
| Etv1 |
T |
C |
12: 38,911,353 (GRCm39) |
L393P |
probably damaging |
Het |
| Fdx1 |
G |
T |
9: 51,859,909 (GRCm39) |
D33E |
probably damaging |
Het |
| Gpr180 |
T |
C |
14: 118,395,359 (GRCm39) |
C264R |
probably damaging |
Het |
| Grik2 |
A |
T |
10: 48,977,211 (GRCm39) |
M907K |
possibly damaging |
Het |
| Itga10 |
C |
T |
3: 96,559,054 (GRCm39) |
|
probably benign |
Het |
| Klrh1 |
C |
G |
6: 129,752,756 (GRCm39) |
K16N |
possibly damaging |
Het |
| Mpdz |
A |
G |
4: 81,339,431 (GRCm39) |
|
probably benign |
Het |
| Myo9b |
C |
T |
8: 71,743,119 (GRCm39) |
S60L |
probably benign |
Het |
| Naxe |
A |
T |
3: 87,965,715 (GRCm39) |
V28E |
probably benign |
Het |
| Nup155 |
A |
T |
15: 8,187,244 (GRCm39) |
H1391L |
probably damaging |
Het |
| Otog |
T |
C |
7: 45,937,252 (GRCm39) |
S1654P |
possibly damaging |
Het |
| Setd1b |
C |
T |
5: 123,298,748 (GRCm39) |
|
probably benign |
Het |
| Spag17 |
A |
G |
3: 99,912,101 (GRCm39) |
T324A |
probably benign |
Het |
| Sucla2 |
C |
T |
14: 73,798,074 (GRCm39) |
|
probably benign |
Het |
| Tbc1d12 |
G |
T |
19: 38,825,515 (GRCm39) |
R122L |
probably benign |
Het |
| Trnt1 |
A |
G |
6: 106,751,464 (GRCm39) |
D147G |
probably damaging |
Het |
| Trpm7 |
A |
T |
2: 126,677,428 (GRCm39) |
V463E |
probably damaging |
Het |
| Wdr82 |
G |
A |
9: 106,065,780 (GRCm39) |
|
probably benign |
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 |
|
|
R0311:Tmx4
|
UTSW |
2 |
134,440,446 (GRCm39) |
makesense |
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'- TGCACTCCAAAATGCTGAAGGTCATAC -3'
(R):5'- ACTGGTTAAGGGACACACAACTGATG -3'
Sequencing Primer
(F):5'- TGGCATAGTGACCACTGTCATAAG -3'
(R):5'- CACAACTGATGTTGAGGCATCTTG -3'
|
| Posted On |
2013-10-16 |
Incidental Mutation