Incidental Mutation 'RF019:Txnrd1'
| ID |
603748 |
| Institutional Source |
Beutler Lab
|
| 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 # |
RF019 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
82669785-82733546 bp(+) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
T to G
at 82720934 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| 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 null
Transcript: ENSMUST00000020484
|
| SMART Domains |
Protein: ENSMUSP00000020484
Gene: ENSMUSG00000020250
| 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 null
Transcript: ENSMUST00000219368
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000219442
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000219962
|
| Coding Region Coverage |
- 1x: 99.8%
- 3x: 99.7%
- 10x: 99.4%
- 20x: 98.8%
|
| Validation Efficiency |
86% (36/42) |
| 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: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310009B15Rik |
A |
G |
1: 138,784,429 (GRCm39) |
S43P |
probably benign |
Het |
| 3110021N24Rik |
AGCGCGGCCGGG |
AG |
4: 108,637,827 (GRCm39) |
|
probably null |
Het |
| Ankrd11 |
A |
G |
8: 123,623,373 (GRCm39) |
V294A |
probably damaging |
Het |
| Ciita |
T |
A |
16: 10,324,611 (GRCm39) |
I181N |
probably damaging |
Het |
| Col6a1 |
T |
C |
10: 76,547,449 (GRCm39) |
M675V |
unknown |
Het |
| Colec11 |
A |
G |
12: 28,662,882 (GRCm39) |
V62A |
probably benign |
Het |
| Eif3i |
T |
C |
4: 129,494,258 (GRCm39) |
T14A |
probably damaging |
Het |
| Filip1l |
A |
G |
16: 57,391,004 (GRCm39) |
T531A |
probably benign |
Het |
| Fscb |
GAGGTAGAACTTCTACAGGGGCCTCCTCAGTTGCTGGAGGT |
GAGGTAGAACTTCTACAGGGGCCTCCTCAGTTGCTGGAGGTAGAACTTCTACAGGGGCCTCCTCAGTTGCTGGAGGT |
12: 64,519,370 (GRCm39) |
|
probably benign |
Het |
| Garre1 |
A |
G |
7: 33,939,974 (GRCm39) |
F918L |
probably damaging |
Het |
| Gpr89 |
T |
C |
3: 96,812,509 (GRCm39) |
I11V |
probably benign |
Het |
| H13 |
G |
A |
2: 152,511,589 (GRCm39) |
E30K |
probably damaging |
Het |
| Hivep3 |
T |
C |
4: 119,955,467 (GRCm39) |
V1261A |
probably benign |
Het |
| Itgad |
C |
A |
7: 127,791,380 (GRCm39) |
H751N |
probably benign |
Het |
| Krtap28-10 |
CCACAGCCACAGCCA |
CCACAGCCACAGCCAACACAGCCACAGCCA |
1: 83,019,990 (GRCm39) |
|
probably benign |
Het |
| L1td1 |
A |
G |
4: 98,625,061 (GRCm39) |
K419E |
not run |
Het |
| Mast4 |
GGTGGTGGTGG |
GGTGGTGGTGGTGGTGG |
13: 102,872,815 (GRCm39) |
|
probably benign |
Het |
| Mbtps1 |
A |
T |
8: 120,252,289 (GRCm39) |
W534R |
probably damaging |
Het |
| Myo9a |
T |
C |
9: 59,829,055 (GRCm39) |
V2387A |
probably benign |
Het |
| Ncapg |
C |
A |
5: 45,856,198 (GRCm39) |
P949Q |
probably benign |
Het |
| Nuggc |
T |
C |
14: 65,885,713 (GRCm39) |
F796S |
probably damaging |
Het |
| Otol1 |
A |
T |
3: 69,925,933 (GRCm39) |
E36V |
probably benign |
Het |
| Pkhd1l1 |
TT |
TTTTTTTTTAT |
15: 44,421,903 (GRCm39) |
|
probably benign |
Het |
| Ralgapa2 |
A |
G |
2: 146,203,423 (GRCm39) |
I1095T |
possibly damaging |
Het |
| Reep1 |
C |
CCGCG |
6: 71,684,953 (GRCm39) |
|
probably null |
Het |
| Smarca2 |
GCAGCA |
GCAGCAACAGCA |
19: 26,608,401 (GRCm39) |
|
probably benign |
Het |
| Tcf20 |
T |
C |
15: 82,735,794 (GRCm39) |
I1886V |
probably benign |
Het |
| Unc5b |
A |
G |
10: 60,618,962 (GRCm39) |
V60A |
probably damaging |
Het |
| Vmn1r45 |
A |
T |
6: 89,910,091 (GRCm39) |
V293E |
probably damaging |
Het |
| Zfhx4 |
T |
A |
3: 5,468,327 (GRCm39) |
D2853E |
probably benign |
Het |
| Zfp108 |
G |
T |
7: 23,961,032 (GRCm39) |
R541L |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCAGCAATTGATGGTTACAGAAC -3'
(R):5'- ACCGGAAACCATCTTGACTC -3'
Sequencing Primer
(F):5'- GGTTACAGAACCGGAAAGATACCC -3'
(R):5'- TGAAAAAGAGGCAAAGAACTTACTTC -3'
|
| Posted On |
2019-12-04 |
Incidental Mutation