Incidental Mutation 'R8473:Tmx4'
ID |
657111 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tmx4
|
Ensembl Gene |
ENSMUSG00000034723 |
Gene Name |
thioredoxin-related transmembrane protein 4 |
Synonyms |
2810417D04Rik, Txndc13, D2Bwg1356e, 4930500L08Rik |
MMRRC Submission |
067917-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.062)
|
Stock # |
R8473 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
134436421-134486041 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 134451444 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 170
(T170A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000105747
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000038228]
[ENSMUST00000110120]
|
AlphaFold |
Q8C0L0 |
Predicted Effect |
probably benign
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 benign
Transcript: ENSMUST00000110120
AA Change: T170A
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
SMART Domains |
Protein: ENSMUSP00000105747 Gene: ENSMUSG00000034723 AA Change: T170A
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
Pfam:Thioredoxin
|
34 |
134 |
4.2e-15 |
PFAM |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.4%
|
Validation Efficiency |
100% (33/33) |
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: 34 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930583I09Rik |
T |
C |
17: 65,141,513 (GRCm39) |
D30G |
unknown |
Het |
Acad12 |
T |
C |
5: 121,745,538 (GRCm39) |
D251G |
probably damaging |
Het |
Adamts15 |
T |
A |
9: 30,816,085 (GRCm39) |
T625S |
probably damaging |
Het |
Atg13 |
A |
T |
2: 91,518,993 (GRCm39) |
L151M |
probably damaging |
Het |
Atp5f1a |
T |
C |
18: 77,867,625 (GRCm39) |
F250L |
probably damaging |
Het |
Blnk |
T |
C |
19: 40,940,854 (GRCm39) |
E183G |
possibly damaging |
Het |
Csf3 |
T |
C |
11: 98,592,928 (GRCm39) |
L97P |
probably damaging |
Het |
Derl2 |
A |
G |
11: 70,910,035 (GRCm39) |
Y10H |
probably damaging |
Het |
Dgkb |
A |
G |
12: 38,234,939 (GRCm39) |
N435D |
probably damaging |
Het |
Dpy19l2 |
C |
A |
9: 24,492,526 (GRCm39) |
V691L |
probably benign |
Het |
Exoc5 |
T |
C |
14: 49,256,860 (GRCm39) |
S509G |
probably null |
Het |
Fancg |
A |
G |
4: 43,004,963 (GRCm39) |
I410T |
probably damaging |
Het |
Fsip2 |
G |
A |
2: 82,777,336 (GRCm39) |
G121D |
probably damaging |
Het |
Gfm1 |
T |
C |
3: 67,361,051 (GRCm39) |
S458P |
possibly damaging |
Het |
Gm6882 |
A |
T |
7: 21,161,440 (GRCm39) |
Y143N |
probably damaging |
Het |
Grm5 |
T |
A |
7: 87,252,278 (GRCm39) |
M176K |
probably damaging |
Het |
Herc6 |
T |
A |
6: 57,624,099 (GRCm39) |
V623D |
probably damaging |
Het |
Hmcn1 |
G |
T |
1: 150,479,551 (GRCm39) |
P4638T |
possibly damaging |
Het |
Il27ra |
A |
G |
8: 84,768,735 (GRCm39) |
Y62H |
probably benign |
Het |
Kcnh8 |
A |
T |
17: 53,285,320 (GRCm39) |
S1097C |
probably benign |
Het |
Kif19a |
T |
G |
11: 114,678,377 (GRCm39) |
S677A |
probably damaging |
Het |
Lrrc37 |
T |
C |
11: 103,434,266 (GRCm39) |
T792A |
unknown |
Het |
Or8d4 |
T |
C |
9: 40,038,506 (GRCm39) |
I250M |
probably benign |
Het |
Pcdhgb7 |
T |
A |
18: 37,886,852 (GRCm39) |
V674D |
probably benign |
Het |
Pik3r6 |
A |
G |
11: 68,417,207 (GRCm39) |
S50G |
probably benign |
Het |
Ptpn12 |
T |
C |
5: 21,203,357 (GRCm39) |
T474A |
probably benign |
Het |
Rbbp6 |
T |
C |
7: 122,600,421 (GRCm39) |
|
probably benign |
Het |
Scaper |
T |
C |
9: 55,458,131 (GRCm39) |
Y880C |
probably damaging |
Het |
Smc5 |
A |
T |
19: 23,221,446 (GRCm39) |
V361D |
probably benign |
Het |
Stag1 |
T |
A |
9: 100,762,840 (GRCm39) |
H480Q |
probably damaging |
Het |
Tdpoz2 |
T |
C |
3: 93,559,153 (GRCm39) |
E273G |
probably damaging |
Het |
Tdpoz3 |
T |
A |
3: 93,733,870 (GRCm39) |
W182R |
possibly damaging |
Het |
Vmn1r59 |
A |
T |
7: 5,457,064 (GRCm39) |
M232K |
possibly damaging |
Het |
Wdr20rt |
A |
G |
12: 65,273,380 (GRCm39) |
D180G |
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 |
|
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 |
|
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'- TGGGTCTGATATAGCTTCCATG -3'
(R):5'- GTAATGAACAGGTAACGCTAACC -3'
Sequencing Primer
(F):5'- GGCTTAAGAATTGTTAAAGTGC -3'
(R):5'- CAGGTAACGCTAACCTTTTTGAG -3'
|
Posted On |
2021-01-18 |