Incidental Mutation 'IGL01995:Txnrd1'
| ID |
183663 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Txnrd1
|
| Ensembl Gene |
ENSMUSG00000020250 |
| Gene Name |
thioredoxin reductase 1 |
| Synonyms |
TR alpha, TrxR1, TR1, TR |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL01995
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
10 |
| Chromosomal Location |
82669785-82733546 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 82713118 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glutamic Acid
at position 60
(V60E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000151825
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020484]
[ENSMUST00000218694]
[ENSMUST00000219368]
[ENSMUST00000219442]
[ENSMUST00000219962]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000020484
AA Change: V60E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000020484
Gene: ENSMUSG00000020250
AA Change: V60E
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Pyr_redox_2
|
13 |
350 |
9.7e-69 |
PFAM |
|
Pfam:FAD_binding_2
|
14 |
69 |
2.6e-8 |
PFAM |
|
Pfam:Pyr_redox
|
192 |
273 |
1.3e-18 |
PFAM |
|
Pfam:Pyr_redox_dim
|
370 |
483 |
8.4e-31 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000218694
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000219368
AA Change: V174E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000219442
AA Change: V60E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000219911
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000219962
AA Change: V60E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: This gene encodes a member of the family of pyridine nucleotide-disulfide oxidoreductases. This protein is a flavoenzyme, which uses NADPH for reduction of thioredoxins as well as other protein and nonprotein substrates, and plays a role in protection against oxidative stress. It contains a selenocysteine (Sec) residue, which is essential for catalytic activity. The selenocysteine is encoded by the UGA codon that normally signals translation termination. The 3' UTR of Sec-containing genes have a common stem-loop structure, the sec insertion sequence (SECIS), that is necessary for the recognition of UGA as a Sec codon, rather than as a stop signal. Alternative splicing of this gene results in several transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mice exhibit early embryonic lethality (by E10.5) and display severe growth retardation and fail to turn. Embryos also exhibit decreased cell proliferation. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930503E14Rik |
T |
C |
14: 44,401,302 (GRCm39) |
|
probably benign |
Het |
| AI661453 |
C |
A |
17: 47,779,442 (GRCm39) |
|
probably benign |
Het |
| Arhgap29 |
G |
A |
3: 121,807,977 (GRCm39) |
V1052I |
probably benign |
Het |
| Arhgef17 |
A |
G |
7: 100,577,862 (GRCm39) |
S1029P |
probably benign |
Het |
| Arpc5l |
T |
C |
2: 38,898,226 (GRCm39) |
S7P |
probably damaging |
Het |
| Asf1b |
A |
G |
8: 84,682,533 (GRCm39) |
I26V |
probably benign |
Het |
| Cep95 |
T |
C |
11: 106,697,197 (GRCm39) |
L240P |
probably damaging |
Het |
| Cnmd |
A |
G |
14: 79,879,508 (GRCm39) |
|
probably benign |
Het |
| Cntn3 |
T |
A |
6: 102,180,846 (GRCm39) |
N783I |
probably damaging |
Het |
| Col6a2 |
C |
A |
10: 76,440,676 (GRCm39) |
|
probably benign |
Het |
| Col9a2 |
T |
C |
4: 120,907,607 (GRCm39) |
|
probably null |
Het |
| Cry2 |
T |
C |
2: 92,254,977 (GRCm39) |
E126G |
probably benign |
Het |
| Cxcl15 |
T |
C |
5: 90,942,467 (GRCm39) |
V13A |
possibly damaging |
Het |
| Dbr1 |
A |
G |
9: 99,465,952 (GRCm39) |
D510G |
probably benign |
Het |
| Dct |
A |
G |
14: 118,271,655 (GRCm39) |
F392L |
probably damaging |
Het |
| Dgkz |
A |
G |
2: 91,764,395 (GRCm39) |
|
probably benign |
Het |
| Dhrs7b |
A |
G |
11: 60,721,541 (GRCm39) |
I2V |
probably benign |
Het |
| Efnb3 |
A |
T |
11: 69,447,730 (GRCm39) |
|
probably null |
Het |
| Fbf1 |
T |
A |
11: 116,041,846 (GRCm39) |
R565S |
probably null |
Het |
| Gimap5 |
T |
C |
6: 48,729,727 (GRCm39) |
I99T |
probably damaging |
Het |
| Gm9912 |
A |
G |
3: 148,891,085 (GRCm39) |
L16P |
unknown |
Het |
| Gpr17 |
A |
G |
18: 32,080,187 (GRCm39) |
L292P |
probably damaging |
Het |
| Hdac10 |
C |
T |
15: 89,011,801 (GRCm39) |
V129M |
probably damaging |
Het |
| Mfap3l |
A |
G |
8: 61,124,498 (GRCm39) |
I247V |
possibly damaging |
Het |
| Mtus1 |
A |
T |
8: 41,537,457 (GRCm39) |
S86R |
probably damaging |
Het |
| Mylk3 |
A |
G |
8: 86,085,890 (GRCm39) |
S55P |
possibly damaging |
Het |
| Nol6 |
A |
T |
4: 41,118,567 (GRCm39) |
C745S |
probably damaging |
Het |
| Nudt13 |
A |
T |
14: 20,356,385 (GRCm39) |
E103D |
probably damaging |
Het |
| Or10ag59 |
A |
G |
2: 87,405,806 (GRCm39) |
Y126C |
probably damaging |
Het |
| Or1e35 |
A |
G |
11: 73,798,261 (GRCm39) |
I19T |
possibly damaging |
Het |
| Pdzk1 |
G |
T |
3: 96,764,687 (GRCm39) |
A324S |
probably benign |
Het |
| Pofut2 |
T |
C |
10: 77,096,515 (GRCm39) |
V80A |
possibly damaging |
Het |
| Rasip1 |
A |
G |
7: 45,286,240 (GRCm39) |
D821G |
probably damaging |
Het |
| Rnf10 |
T |
A |
5: 115,389,161 (GRCm39) |
K273* |
probably null |
Het |
| Slc4a9 |
A |
G |
18: 36,672,828 (GRCm39) |
M811V |
possibly damaging |
Het |
| Smchd1 |
T |
C |
17: 71,751,015 (GRCm39) |
D301G |
probably damaging |
Het |
| Tm9sf2 |
A |
T |
14: 122,380,883 (GRCm39) |
T159S |
probably benign |
Het |
| Tom1l1 |
G |
A |
11: 90,540,687 (GRCm39) |
P327S |
probably damaging |
Het |
| Trim3 |
A |
G |
7: 105,267,689 (GRCm39) |
|
probably benign |
Het |
| Trpm6 |
A |
C |
19: 18,807,691 (GRCm39) |
|
probably benign |
Het |
| Ttc13 |
A |
C |
8: 125,415,621 (GRCm39) |
L245R |
probably damaging |
Het |
| Ung |
T |
A |
5: 114,274,447 (GRCm39) |
D173E |
probably benign |
Het |
| Zbtb5 |
A |
G |
4: 44,995,294 (GRCm39) |
V30A |
probably damaging |
Het |
|
| Other mutations in Txnrd1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00470:Txnrd1
|
APN |
10 |
82,711,496 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00644:Txnrd1
|
APN |
10 |
82,721,010 (GRCm39) |
splice site |
probably benign |
|
|
IGL02167:Txnrd1
|
APN |
10 |
82,717,745 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02368:Txnrd1
|
APN |
10 |
82,731,808 (GRCm39) |
splice site |
probably null |
|
|
IGL02500:Txnrd1
|
APN |
10 |
82,715,051 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02870:Txnrd1
|
APN |
10 |
82,731,813 (GRCm39) |
missense |
probably benign |
0.13 |
|
IGL03188:Txnrd1
|
APN |
10 |
82,720,880 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
IGL03257:Txnrd1
|
APN |
10 |
82,721,105 (GRCm39) |
missense |
probably benign |
0.00 |
|
F6893:Txnrd1
|
UTSW |
10 |
82,702,823 (GRCm39) |
nonsense |
probably null |
|
|
R0092:Txnrd1
|
UTSW |
10 |
82,715,636 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2019:Txnrd1
|
UTSW |
10 |
82,713,207 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2088:Txnrd1
|
UTSW |
10 |
82,719,744 (GRCm39) |
splice site |
probably benign |
|
|
R2101:Txnrd1
|
UTSW |
10 |
82,717,573 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2120:Txnrd1
|
UTSW |
10 |
82,723,067 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R2696:Txnrd1
|
UTSW |
10 |
82,721,116 (GRCm39) |
missense |
probably benign |
0.05 |
|
R4058:Txnrd1
|
UTSW |
10 |
82,721,114 (GRCm39) |
missense |
probably benign |
0.03 |
|
R4059:Txnrd1
|
UTSW |
10 |
82,721,114 (GRCm39) |
missense |
probably benign |
0.03 |
|
R4879:Txnrd1
|
UTSW |
10 |
82,717,751 (GRCm39) |
splice site |
probably null |
|
|
R5582:Txnrd1
|
UTSW |
10 |
82,731,814 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R6870:Txnrd1
|
UTSW |
10 |
82,709,042 (GRCm39) |
missense |
probably benign |
0.45 |
|
R6965:Txnrd1
|
UTSW |
10 |
82,717,652 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7336:Txnrd1
|
UTSW |
10 |
82,709,051 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7449:Txnrd1
|
UTSW |
10 |
82,721,067 (GRCm39) |
nonsense |
probably null |
|
|
R8350:Txnrd1
|
UTSW |
10 |
82,717,759 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8369:Txnrd1
|
UTSW |
10 |
82,710,480 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9201:Txnrd1
|
UTSW |
10 |
82,719,821 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9652:Txnrd1
|
UTSW |
10 |
82,720,390 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
RF019:Txnrd1
|
UTSW |
10 |
82,720,934 (GRCm39) |
critical splice donor site |
probably null |
|
|
| Posted On |
2014-05-07 |
Incidental Mutation