Incidental Mutation 'R9201:Txnrd1'
| ID |
698235 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Txnrd1
|
| Ensembl Gene |
ENSMUSG00000020250 |
| Gene Name |
thioredoxin reductase 1 |
| Synonyms |
TR alpha, TrxR1, TR1, TR |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R9201 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
82669785-82733546 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 82719821 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 394
(I394T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000151629
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020484]
[ENSMUST00000218694]
[ENSMUST00000219368]
[ENSMUST00000219442]
[ENSMUST00000219962]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000020484
AA Change: I280T
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000020484
Gene: ENSMUSG00000020250
AA Change: I280T
| 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 benign
Transcript: ENSMUST00000219368
AA Change: I394T
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000219442
AA Change: I280T
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000219962
AA Change: I280T
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
| 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: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4931406B18Rik |
A |
G |
7: 43,150,709 (GRCm39) |
V21A |
possibly damaging |
Het |
| Abcc2 |
T |
C |
19: 43,786,880 (GRCm39) |
F167S |
probably damaging |
Het |
| Afap1l2 |
C |
A |
19: 56,916,688 (GRCm39) |
W280L |
probably damaging |
Het |
| Ankrd17 |
A |
T |
5: 90,378,798 (GRCm39) |
M2540K |
possibly damaging |
Het |
| Atxn10 |
T |
C |
15: 85,243,687 (GRCm39) |
V50A |
probably damaging |
Het |
| Bpifb2 |
A |
T |
2: 153,733,903 (GRCm39) |
Q415L |
possibly damaging |
Het |
| Cat |
A |
T |
2: 103,304,754 (GRCm39) |
D90E |
possibly damaging |
Het |
| Cdh12 |
T |
C |
15: 21,237,825 (GRCm39) |
L20P |
possibly damaging |
Het |
| Celsr1 |
G |
T |
15: 85,917,286 (GRCm39) |
S229* |
probably null |
Het |
| Cimap3 |
T |
A |
3: 105,906,921 (GRCm39) |
K159N |
probably damaging |
Het |
| Clca3a2 |
A |
G |
3: 144,519,684 (GRCm39) |
I230T |
probably benign |
Het |
| Clip4 |
G |
A |
17: 72,117,884 (GRCm39) |
G310R |
probably damaging |
Het |
| Dcaf15 |
T |
C |
8: 84,828,699 (GRCm39) |
T159A |
possibly damaging |
Het |
| Dcbld1 |
A |
G |
10: 52,138,000 (GRCm39) |
D88G |
probably benign |
Het |
| Edem3 |
G |
T |
1: 151,694,324 (GRCm39) |
V886F |
probably benign |
Het |
| Ero1a |
A |
G |
14: 45,525,214 (GRCm39) |
V437A |
probably damaging |
Het |
| Fat4 |
T |
C |
3: 38,945,079 (GRCm39) |
V1324A |
probably damaging |
Het |
| Fgfr1op2 |
A |
G |
6: 146,494,217 (GRCm39) |
E161G |
probably benign |
Het |
| Fhod3 |
T |
A |
18: 25,127,613 (GRCm39) |
Y318* |
probably null |
Het |
| Il18rap |
C |
T |
1: 40,582,177 (GRCm39) |
T366M |
probably benign |
Het |
| Kmt5a |
A |
T |
5: 124,597,912 (GRCm39) |
E256D |
probably damaging |
Het |
| Lax1 |
A |
T |
1: 133,608,205 (GRCm39) |
S179T |
possibly damaging |
Het |
| Nf1 |
T |
C |
11: 79,461,156 (GRCm39) |
S741P |
probably benign |
Het |
| Nrap |
T |
A |
19: 56,340,093 (GRCm39) |
H844L |
probably damaging |
Het |
| Nrip3 |
T |
C |
7: 109,360,906 (GRCm39) |
T230A |
probably benign |
Het |
| Nudcd1 |
T |
C |
15: 44,263,473 (GRCm39) |
K322R |
probably benign |
Het |
| Or14c40 |
T |
C |
7: 86,313,749 (GRCm39) |
I293T |
probably damaging |
Het |
| Or9a7 |
C |
T |
6: 40,521,293 (GRCm39) |
V207I |
probably benign |
Het |
| Paqr3 |
A |
G |
5: 97,245,365 (GRCm39) |
S256P |
possibly damaging |
Het |
| Ppfia2 |
T |
C |
10: 106,678,640 (GRCm39) |
|
probably null |
Het |
| Ppp2r1b |
T |
A |
9: 50,789,447 (GRCm39) |
N503K |
probably benign |
Het |
| Ppp2r2b |
A |
G |
18: 42,871,101 (GRCm39) |
Y70H |
possibly damaging |
Het |
| Pramel34 |
A |
T |
5: 93,785,937 (GRCm39) |
N114K |
probably benign |
Het |
| Ptprz1 |
G |
T |
6: 22,972,869 (GRCm39) |
|
probably null |
Het |
| Rbm15b |
A |
G |
9: 106,762,218 (GRCm39) |
S138P |
unknown |
Het |
| Slc4a5 |
C |
T |
6: 83,262,812 (GRCm39) |
T768I |
probably benign |
Het |
| Smc2 |
T |
A |
4: 52,446,044 (GRCm39) |
N137K |
probably damaging |
Het |
| Snai2 |
A |
T |
16: 14,524,632 (GRCm39) |
E46V |
probably benign |
Het |
| Spata31d1c |
A |
G |
13: 65,184,773 (GRCm39) |
S772G |
possibly damaging |
Het |
| Spidr |
G |
T |
16: 15,730,556 (GRCm39) |
R650S |
possibly damaging |
Het |
| Stox1 |
A |
G |
10: 62,501,352 (GRCm39) |
S403P |
probably damaging |
Het |
| Tdrd6 |
T |
C |
17: 43,936,561 (GRCm39) |
K1496E |
probably benign |
Het |
| Tsc1 |
T |
C |
2: 28,576,791 (GRCm39) |
V1031A |
probably benign |
Het |
| Usp24 |
T |
A |
4: 106,277,727 (GRCm39) |
F2286I |
probably benign |
Het |
| Zfp369 |
T |
C |
13: 65,444,396 (GRCm39) |
V513A |
probably benign |
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 |
|
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CAGGGCTGAGTTCTGTTTCC -3'
(R):5'- AACGCAGAGTCTAGCTCACTAG -3'
Sequencing Primer
(F):5'- CTGTTTCCTGAGGACTAAGCAG -3'
(R):5'- CCTATTTGTGAGACTCGGCATACAG -3'
|
| Posted On |
2022-02-07 |
Incidental Mutation