Incidental Mutation 'IGL00470:Txnrd1'
ID |
4687 |
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 # |
IGL00470
|
Quality Score |
|
Status
|
|
Chromosome |
10 |
Chromosomal Location |
82669785-82733546 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to G
at 82711496 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 42
(D42E)
|
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: D42E
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000020484 Gene: ENSMUSG00000020250 AA Change: D42E
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: D156E
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000219442
AA Change: D42E
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000219911
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000219962
AA Change: D42E
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
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: 35 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4732463B04Rik |
G |
T |
12: 84,090,578 (GRCm39) |
|
probably benign |
Het |
Abcd1 |
T |
C |
X: 72,761,154 (GRCm39) |
L173P |
probably damaging |
Het |
Adam18 |
T |
A |
8: 25,118,149 (GRCm39) |
D41V |
probably damaging |
Het |
Armh4 |
A |
T |
14: 50,010,460 (GRCm39) |
S416T |
probably damaging |
Het |
Aspa |
T |
G |
11: 73,204,447 (GRCm39) |
|
probably benign |
Het |
Cacna2d1 |
T |
A |
5: 16,451,654 (GRCm39) |
|
probably benign |
Het |
Cracd |
G |
A |
5: 77,013,903 (GRCm39) |
|
probably benign |
Het |
Cubn |
T |
A |
2: 13,283,229 (GRCm39) |
I3570L |
probably benign |
Het |
Cyp2j13 |
G |
A |
4: 95,950,275 (GRCm39) |
P242L |
probably damaging |
Het |
Cysrt1 |
T |
C |
2: 25,129,513 (GRCm39) |
|
probably benign |
Het |
Dchs1 |
A |
T |
7: 105,407,414 (GRCm39) |
L2100H |
probably damaging |
Het |
Ddb1 |
G |
A |
19: 10,589,028 (GRCm39) |
A229T |
possibly damaging |
Het |
Dst |
A |
T |
1: 34,228,043 (GRCm39) |
I1554F |
probably damaging |
Het |
Dvl3 |
C |
T |
16: 20,349,689 (GRCm39) |
P554L |
probably damaging |
Het |
Fcgbp |
C |
A |
7: 27,774,511 (GRCm39) |
C28* |
probably null |
Het |
Gm773 |
T |
C |
X: 55,247,373 (GRCm39) |
D53G |
probably benign |
Het |
Hhat |
A |
G |
1: 192,399,325 (GRCm39) |
Y272H |
probably damaging |
Het |
Inpp5k |
T |
C |
11: 75,536,351 (GRCm39) |
S310P |
probably benign |
Het |
Kat2a |
G |
A |
11: 100,596,210 (GRCm39) |
R782W |
probably damaging |
Het |
Kcnh5 |
T |
C |
12: 74,944,570 (GRCm39) |
D893G |
probably benign |
Het |
Lama2 |
T |
C |
10: 27,119,738 (GRCm39) |
T709A |
probably benign |
Het |
Mcm8 |
G |
A |
2: 132,669,457 (GRCm39) |
V281I |
probably benign |
Het |
Men1 |
G |
A |
19: 6,387,237 (GRCm39) |
|
probably null |
Het |
Nup133 |
T |
G |
8: 124,665,822 (GRCm39) |
D201A |
probably damaging |
Het |
Oxct2a |
A |
G |
4: 123,217,183 (GRCm39) |
L66P |
possibly damaging |
Het |
Pcbp2 |
C |
T |
15: 102,399,148 (GRCm39) |
A224V |
probably damaging |
Het |
Phf8-ps |
T |
A |
17: 33,284,837 (GRCm39) |
H655L |
probably benign |
Het |
Pla2g4e |
G |
A |
2: 120,015,719 (GRCm39) |
S275F |
probably benign |
Het |
Pxk |
T |
C |
14: 8,130,754 (GRCm38) |
F118L |
probably damaging |
Het |
Sp2 |
C |
T |
11: 96,845,387 (GRCm39) |
R578H |
probably damaging |
Het |
Sphkap |
A |
G |
1: 83,255,631 (GRCm39) |
M706T |
possibly damaging |
Het |
Tars3 |
T |
C |
7: 65,338,656 (GRCm39) |
M689T |
probably benign |
Het |
Trrap |
T |
C |
5: 144,754,848 (GRCm39) |
V2008A |
probably damaging |
Het |
Txndc2 |
A |
T |
17: 65,945,569 (GRCm39) |
S203T |
probably benign |
Het |
Zswim8 |
G |
A |
14: 20,773,249 (GRCm39) |
D1746N |
probably damaging |
Het |
|
Other mutations in Txnrd1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00644:Txnrd1
|
APN |
10 |
82,721,010 (GRCm39) |
splice site |
probably benign |
|
IGL01995:Txnrd1
|
APN |
10 |
82,713,118 (GRCm39) |
missense |
probably damaging |
1.00 |
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 |
2012-04-20 |