Incidental Mutation 'IGL02870:Txnrd1'
| ID |
362526 |
| 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 # |
IGL02870
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
10 |
| Chromosomal Location |
82669785-82733546 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 82731813 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Methionine
at position 478
(I478M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000151825
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020484]
[ENSMUST00000219368]
[ENSMUST00000219442]
[ENSMUST00000219962]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000020484
AA Change: I478M
PolyPhen 2
Score 0.130 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000020484
Gene: ENSMUSG00000020250
AA Change: I478M
| 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 |
noncoding transcript
Transcript: ENSMUST00000218724
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000219368
AA Change: I592M
PolyPhen 2
Score 0.130 (Sensitivity: 0.93; Specificity: 0.86)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000219442
AA Change: I478M
PolyPhen 2
Score 0.130 (Sensitivity: 0.93; Specificity: 0.86)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000219962
AA Change: I478M
PolyPhen 2
Score 0.130 (Sensitivity: 0.93; Specificity: 0.86)
|
| 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: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrv1 |
C |
T |
13: 81,711,851 (GRCm39) |
V1042M |
probably benign |
Het |
| Agmat |
C |
A |
4: 141,474,253 (GRCm39) |
H45N |
probably benign |
Het |
| Akap13 |
T |
A |
7: 75,258,936 (GRCm39) |
V520D |
probably damaging |
Het |
| Ccser1 |
T |
A |
6: 61,288,276 (GRCm39) |
N146K |
probably damaging |
Het |
| Cdhr4 |
T |
A |
9: 107,875,263 (GRCm39) |
|
probably null |
Het |
| Col4a1 |
G |
A |
8: 11,271,375 (GRCm39) |
T753I |
probably benign |
Het |
| Cyp3a59 |
T |
C |
5: 146,034,994 (GRCm39) |
I224T |
probably benign |
Het |
| Ddx19a |
G |
T |
8: 111,710,258 (GRCm39) |
P114Q |
probably damaging |
Het |
| Eftud2 |
A |
G |
11: 102,753,452 (GRCm39) |
V275A |
probably damaging |
Het |
| Fgd6 |
T |
C |
10: 93,881,026 (GRCm39) |
S627P |
probably damaging |
Het |
| Flywch1 |
C |
T |
17: 23,974,876 (GRCm39) |
G541D |
probably damaging |
Het |
| Grk2 |
T |
C |
19: 4,340,430 (GRCm39) |
D317G |
probably damaging |
Het |
| H2-M5 |
T |
C |
17: 37,299,925 (GRCm39) |
E83G |
probably benign |
Het |
| Hltf |
T |
C |
3: 20,154,037 (GRCm39) |
F658L |
probably damaging |
Het |
| Hmmr |
G |
T |
11: 40,604,902 (GRCm39) |
Q390K |
possibly damaging |
Het |
| Lama1 |
G |
A |
17: 68,111,531 (GRCm39) |
G2261R |
probably damaging |
Het |
| Nsd1 |
A |
T |
13: 55,461,416 (GRCm39) |
T2548S |
probably benign |
Het |
| Or1j13 |
G |
A |
2: 36,370,043 (GRCm39) |
A33V |
probably benign |
Het |
| P3h1 |
C |
T |
4: 119,104,768 (GRCm39) |
R684W |
probably damaging |
Het |
| Peli2 |
G |
A |
14: 48,493,722 (GRCm39) |
V315M |
probably damaging |
Het |
| Pfkl |
T |
A |
10: 77,836,673 (GRCm39) |
K115* |
probably null |
Het |
| Plcxd1 |
A |
G |
5: 110,249,271 (GRCm39) |
T33A |
probably damaging |
Het |
| Ranbp17 |
A |
G |
11: 33,193,262 (GRCm39) |
S931P |
probably damaging |
Het |
| Retsat |
T |
C |
6: 72,584,007 (GRCm39) |
Y500H |
probably damaging |
Het |
| Rfx8 |
C |
T |
1: 39,722,871 (GRCm39) |
V249I |
possibly damaging |
Het |
| Runx1t1 |
A |
T |
4: 13,889,867 (GRCm39) |
I599L |
unknown |
Het |
| Sardh |
A |
T |
2: 27,125,503 (GRCm39) |
I337N |
possibly damaging |
Het |
| Serpinb7 |
A |
T |
1: 107,378,017 (GRCm39) |
M237L |
probably damaging |
Het |
| Slc35f1 |
A |
G |
10: 52,809,303 (GRCm39) |
S97G |
possibly damaging |
Het |
| Stab1 |
T |
C |
14: 30,861,354 (GRCm39) |
D2520G |
probably benign |
Het |
| Tnfrsf11b |
C |
T |
15: 54,119,423 (GRCm39) |
V184M |
probably benign |
Het |
| Trpv4 |
A |
T |
5: 114,763,117 (GRCm39) |
V764E |
probably damaging |
Het |
| Tsc22d1 |
C |
A |
14: 76,655,057 (GRCm39) |
A430E |
probably benign |
Het |
| Ttn |
T |
C |
2: 76,580,949 (GRCm39) |
R23315G |
probably damaging |
Het |
| Ush2a |
T |
C |
1: 188,410,555 (GRCm39) |
V2401A |
probably benign |
Het |
| Vill |
T |
C |
9: 118,890,967 (GRCm39) |
L191P |
probably damaging |
Het |
| Vmn1r30 |
A |
G |
6: 58,412,355 (GRCm39) |
V159A |
probably benign |
Het |
| Washc4 |
T |
A |
10: 83,421,740 (GRCm39) |
N939K |
probably benign |
Het |
| Wdfy3 |
A |
G |
5: 102,003,337 (GRCm39) |
V2926A |
probably damaging |
Het |
| Wdr7 |
T |
C |
18: 63,924,914 (GRCm39) |
S966P |
probably benign |
Het |
| Zfp12 |
C |
A |
5: 143,231,086 (GRCm39) |
T471N |
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 |
|
|
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 |
|
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 |
2015-12-18 |
Incidental Mutation