Incidental Mutation 'R2960:Tmx3'
| ID |
255895 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tmx3
|
| Ensembl Gene |
ENSMUSG00000024614 |
| Gene Name |
thioredoxin-related transmembrane protein 3 |
| Synonyms |
A730024F05Rik, Txndc10, 6430411B10Rik |
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.337)
|
| Stock # |
R2960 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
18 |
| Chromosomal Location |
90528336-90561391 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 90551116 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 252
(V252A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000025515
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025515]
|
| AlphaFold |
Q8BXZ1 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000025515
AA Change: V252A
PolyPhen 2
Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000025515
Gene: ENSMUSG00000024614
AA Change: V252A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Thioredoxin
|
30 |
132 |
3.6e-26 |
PFAM |
|
Pfam:Thioredoxin_6
|
160 |
341 |
1.6e-27 |
PFAM |
|
transmembrane domain
|
377 |
399 |
N/A |
INTRINSIC |
|
low complexity region
|
418 |
436 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.8%
|
| 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, one transmembrane domain and a C-terminal ER-retention sequence. This gene is expressed in many tissues but has its highest expression in heart and skeletal muscle. It is expressed in the retinal neuroepithelium and lens epithelium in the developing murine eye and haploinsufficiency of this gene in humans and zebrafish is associated with microphthalmia. [provided by RefSeq, Jan 2017]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 24 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arl5c |
A |
G |
11: 97,885,902 (GRCm39) |
L33P |
probably damaging |
Het |
| Auh |
A |
T |
13: 52,993,610 (GRCm39) |
I268N |
probably damaging |
Het |
| Cimap2 |
A |
G |
4: 106,470,615 (GRCm39) |
S186P |
probably damaging |
Het |
| Defa25 |
A |
T |
8: 21,575,273 (GRCm39) |
H84L |
probably benign |
Het |
| Endou |
T |
C |
15: 97,611,687 (GRCm39) |
Y317C |
probably damaging |
Het |
| Fmn2 |
C |
T |
1: 174,437,385 (GRCm39) |
L1119F |
probably damaging |
Het |
| Glyat |
T |
A |
19: 12,617,214 (GRCm39) |
L22H |
probably damaging |
Het |
| Gpd2 |
C |
T |
2: 57,228,987 (GRCm39) |
R264* |
probably null |
Het |
| Grb7 |
C |
T |
11: 98,343,087 (GRCm39) |
T268I |
probably damaging |
Het |
| Ints15 |
A |
T |
5: 143,293,776 (GRCm39) |
F234I |
probably benign |
Het |
| Itfg2 |
G |
A |
6: 128,390,515 (GRCm39) |
A190V |
probably benign |
Het |
| Kirrel1 |
C |
T |
3: 86,996,458 (GRCm39) |
M380I |
probably null |
Het |
| Mdga2 |
G |
T |
12: 66,676,752 (GRCm39) |
Y513* |
probably null |
Het |
| Med8 |
A |
G |
4: 118,271,944 (GRCm39) |
T222A |
probably damaging |
Het |
| Nup43 |
T |
C |
10: 7,546,713 (GRCm39) |
V111A |
probably benign |
Het |
| Or9s14 |
A |
G |
1: 92,536,050 (GRCm39) |
I164V |
probably benign |
Het |
| Rfx3 |
G |
A |
19: 27,878,211 (GRCm39) |
Q29* |
probably null |
Het |
| Rfx8 |
A |
G |
1: 39,722,112 (GRCm39) |
V291A |
probably damaging |
Het |
| Scnn1a |
A |
G |
6: 125,299,256 (GRCm39) |
Y112C |
probably damaging |
Het |
| Tex11 |
C |
A |
X: 99,977,021 (GRCm39) |
A487S |
possibly damaging |
Het |
| Vmn1r216 |
A |
G |
13: 23,284,103 (GRCm39) |
D262G |
probably benign |
Het |
| Vmn1r9 |
A |
G |
6: 57,048,657 (GRCm39) |
D244G |
possibly damaging |
Het |
| Xkr6 |
T |
A |
14: 63,844,586 (GRCm39) |
M203K |
possibly damaging |
Het |
| Zfr |
G |
A |
15: 12,162,319 (GRCm39) |
R823H |
probably benign |
Het |
|
| Other mutations in Tmx3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00946:Tmx3
|
APN |
18 |
90,558,178 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
IGL01790:Tmx3
|
APN |
18 |
90,529,458 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL01888:Tmx3
|
APN |
18 |
90,546,045 (GRCm39) |
missense |
probably benign |
0.05 |
|
IGL02689:Tmx3
|
APN |
18 |
90,555,240 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
IGL03212:Tmx3
|
APN |
18 |
90,556,642 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0243:Tmx3
|
UTSW |
18 |
90,556,613 (GRCm39) |
splice site |
probably benign |
|
|
R0255:Tmx3
|
UTSW |
18 |
90,558,130 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R0981:Tmx3
|
UTSW |
18 |
90,555,324 (GRCm39) |
missense |
probably benign |
|
|
R1528:Tmx3
|
UTSW |
18 |
90,555,210 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R1772:Tmx3
|
UTSW |
18 |
90,551,121 (GRCm39) |
missense |
probably benign |
|
|
R2144:Tmx3
|
UTSW |
18 |
90,535,614 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2155:Tmx3
|
UTSW |
18 |
90,528,505 (GRCm39) |
splice site |
probably null |
|
|
R2202:Tmx3
|
UTSW |
18 |
90,546,037 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2444:Tmx3
|
UTSW |
18 |
90,558,307 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3435:Tmx3
|
UTSW |
18 |
90,546,028 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3946:Tmx3
|
UTSW |
18 |
90,542,459 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R4427:Tmx3
|
UTSW |
18 |
90,541,725 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4708:Tmx3
|
UTSW |
18 |
90,539,163 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5748:Tmx3
|
UTSW |
18 |
90,555,225 (GRCm39) |
missense |
probably benign |
0.05 |
|
R5938:Tmx3
|
UTSW |
18 |
90,546,058 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R6266:Tmx3
|
UTSW |
18 |
90,555,334 (GRCm39) |
splice site |
probably null |
|
|
R7311:Tmx3
|
UTSW |
18 |
90,558,195 (GRCm39) |
missense |
probably benign |
0.13 |
|
R7637:Tmx3
|
UTSW |
18 |
90,555,233 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7649:Tmx3
|
UTSW |
18 |
90,558,154 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7772:Tmx3
|
UTSW |
18 |
90,545,918 (GRCm39) |
splice site |
probably null |
|
|
R7899:Tmx3
|
UTSW |
18 |
90,545,998 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R9319:Tmx3
|
UTSW |
18 |
90,558,068 (GRCm39) |
missense |
probably benign |
0.05 |
|
| Predicted Primers |
PCR Primer
(F):5'- CTAATTCACTGGTCCAGGCTG -3'
(R):5'- CTCTGAAATCTCTAGCAACTTCCTG -3'
Sequencing Primer
(F):5'- GCTGCAAGCATTATACCATAAGATG -3'
(R):5'- CTCTAGCAACTTCCTGAATAATTGAC -3'
|
| Posted On |
2014-12-29 |
Incidental Mutation