Incidental Mutation 'R8852:Txnrd2'
| ID |
675081 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Txnrd2
|
| Ensembl Gene |
ENSMUSG00000075704 |
| Gene Name |
thioredoxin reductase 2 |
| Synonyms |
ESTM573010, TGR, TR beta, TR3 |
| MMRRC Submission |
068674-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R8852 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
16 |
| Chromosomal Location |
18245167-18297823 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 18259601 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Methionine
at position 173
(V173M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000111269
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000115604]
[ENSMUST00000115605]
[ENSMUST00000115606]
[ENSMUST00000126778]
[ENSMUST00000144233]
[ENSMUST00000177856]
[ENSMUST00000178093]
[ENSMUST00000205679]
[ENSMUST00000206151]
[ENSMUST00000206606]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000115604
AA Change: V173M
PolyPhen 2
Score 0.800 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000111267
Gene: ENSMUSG00000075704
AA Change: V173M
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
8 |
36 |
N/A |
INTRINSIC |
|
Pfam:FAD_binding_2
|
41 |
95 |
9.7e-9 |
PFAM |
|
Pfam:GIDA
|
41 |
200 |
2.5e-6 |
PFAM |
|
Pfam:Pyr_redox_2
|
41 |
323 |
7.8e-29 |
PFAM |
|
Pfam:Pyr_redox_3
|
43 |
253 |
4.1e-9 |
PFAM |
|
Pfam:Pyr_redox
|
220 |
302 |
4.9e-15 |
PFAM |
|
| Predicted Effect |
|
| SMART Domains |
Protein: ENSMUSP00000111268
Gene: ENSMUSG00000075704
AA Change: V154M
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
8 |
36 |
N/A |
INTRINSIC |
|
Pfam:FAD_binding_2
|
41 |
95 |
8.4e-7 |
PFAM |
|
Pfam:GIDA
|
41 |
208 |
1.8e-4 |
PFAM |
|
Pfam:Pyr_redox_2
|
41 |
365 |
1.2e-39 |
PFAM |
|
Pfam:Pyr_redox_3
|
43 |
253 |
8.2e-7 |
PFAM |
|
Pfam:Pyr_redox
|
220 |
302 |
5.7e-13 |
PFAM |
|
Pfam:Pyr_redox_dim
|
388 |
477 |
3.5e-17 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000115606
AA Change: V173M
PolyPhen 2
Score 0.536 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000111269
Gene: ENSMUSG00000075704
AA Change: V173M
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
8 |
36 |
N/A |
INTRINSIC |
|
Pfam:Pyr_redox_2
|
40 |
375 |
2.4e-71 |
PFAM |
|
Pfam:FAD_binding_2
|
41 |
90 |
2.9e-8 |
PFAM |
|
Pfam:Pyr_redox
|
220 |
299 |
2.1e-15 |
PFAM |
|
Pfam:Pyr_redox_dim
|
395 |
508 |
7.6e-31 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000126778
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000131303
|
| Predicted Effect |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000144233
AA Change: V137M
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000177856
AA Change: V170M
PolyPhen 2
Score 0.591 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000136402
Gene: ENSMUSG00000075704
AA Change: V170M
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
8 |
36 |
N/A |
INTRINSIC |
|
Pfam:FAD_binding_2
|
41 |
95 |
1.3e-8 |
PFAM |
|
Pfam:GIDA
|
41 |
240 |
6.2e-7 |
PFAM |
|
Pfam:Pyr_redox_2
|
41 |
365 |
3.9e-38 |
PFAM |
|
Pfam:Pyr_redox
|
226 |
302 |
1.3e-10 |
PFAM |
|
Pfam:Pyr_redox_dim
|
395 |
508 |
1.2e-30 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000178093
AA Change: V170M
PolyPhen 2
Score 0.878 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000136373
Gene: ENSMUSG00000075704
AA Change: V170M
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
8 |
36 |
N/A |
INTRINSIC |
|
Pfam:FAD_binding_2
|
41 |
95 |
9e-7 |
PFAM |
|
Pfam:GIDA
|
41 |
201 |
1.9e-4 |
PFAM |
|
Pfam:Pyr_redox_2
|
41 |
365 |
2.3e-36 |
PFAM |
|
Pfam:Pyr_redox
|
226 |
302 |
1.2e-8 |
PFAM |
|
Pfam:Pyr_redox_dim
|
388 |
477 |
3.5e-17 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000205679
AA Change: V151M
PolyPhen 2
Score 0.722 (Sensitivity: 0.86; Specificity: 0.92)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000206151
AA Change: V173M
PolyPhen 2
Score 0.536 (Sensitivity: 0.88; Specificity: 0.90)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000206606
AA Change: V173M
PolyPhen 2
Score 0.733 (Sensitivity: 0.86; Specificity: 0.92)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.4%
|
| Validation Efficiency |
100% (53/53) |
| MGI Phenotype |
FUNCTION: This gene product belongs to the family of pyridine nucleotide-disulfide oxidoreductases. It is a mitochondrial enzyme that catalyzes the reduction of thioredoxin, and is implicated in the defense against oxidative stress. This protein contains a selenocysteine (Sec) residue at its active site. The selenocysteine is encoded by the UGA codon, which normally signals translation termination. The 3' UTR of Sec-containing genes have a common stem-loop structure, the sec insertion sequence (SECIS), which is necessary for the recognition of UGA as a Sec codon rather than as a stop signal. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele die at E13 due to severe anemia and growth retardation, resulting from perturbed cardiac development and augmented apoptosis of hematopoietic cells. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2700049A03Rik |
T |
G |
12: 71,231,197 (GRCm39) |
V985G |
possibly damaging |
Het |
| Acr |
T |
G |
15: 89,458,057 (GRCm39) |
M246R |
probably damaging |
Het |
| Adgrf5 |
G |
T |
17: 43,763,989 (GRCm39) |
V1304L |
possibly damaging |
Het |
| Ago4 |
A |
T |
4: 126,387,043 (GRCm39) |
D853E |
probably benign |
Het |
| Arvcf |
C |
A |
16: 18,222,203 (GRCm39) |
D790E |
probably benign |
Het |
| Atp8a2 |
A |
C |
14: 60,162,545 (GRCm39) |
D725E |
probably damaging |
Het |
| C2cd5 |
A |
G |
6: 143,028,946 (GRCm39) |
Y98H |
probably benign |
Het |
| Camkk2 |
T |
C |
5: 122,891,820 (GRCm39) |
Y234C |
probably damaging |
Het |
| Ccdc106 |
A |
G |
7: 5,062,570 (GRCm39) |
D192G |
probably benign |
Het |
| Ccm2l |
T |
C |
2: 152,916,788 (GRCm39) |
Y340H |
probably damaging |
Het |
| Chd1l |
A |
G |
3: 97,477,685 (GRCm39) |
F690S |
probably benign |
Het |
| Chuk |
A |
G |
19: 44,076,407 (GRCm39) |
S435P |
possibly damaging |
Het |
| Cisd3 |
T |
A |
11: 97,576,703 (GRCm39) |
S10T |
probably benign |
Het |
| Cnppd1 |
A |
G |
1: 75,113,063 (GRCm39) |
S402P |
probably damaging |
Het |
| Cped1 |
A |
G |
6: 22,215,620 (GRCm39) |
D718G |
probably damaging |
Het |
| Crtc1 |
A |
G |
8: 70,840,805 (GRCm39) |
S474P |
probably damaging |
Het |
| Dcpp3 |
G |
T |
17: 24,138,123 (GRCm39) |
E94* |
probably null |
Het |
| Dhx38 |
A |
T |
8: 110,289,361 (GRCm39) |
L13* |
probably null |
Het |
| Dmbt1 |
T |
C |
7: 130,642,853 (GRCm39) |
Y120H |
unknown |
Het |
| Fntb |
T |
A |
12: 76,934,826 (GRCm39) |
V201E |
possibly damaging |
Het |
| Gga3 |
T |
C |
11: 115,481,244 (GRCm39) |
D242G |
probably benign |
Het |
| Gsx2 |
T |
C |
5: 75,236,996 (GRCm39) |
M192T |
possibly damaging |
Het |
| Hif3a |
A |
T |
7: 16,774,912 (GRCm39) |
M562K |
probably benign |
Het |
| Irf5 |
G |
A |
6: 29,535,997 (GRCm39) |
R337H |
probably damaging |
Het |
| Kcnmb3 |
A |
G |
3: 32,526,624 (GRCm39) |
V189A |
possibly damaging |
Het |
| Letmd1 |
A |
G |
15: 100,373,247 (GRCm39) |
T241A |
probably benign |
Het |
| Lrrc14b |
T |
A |
13: 74,509,408 (GRCm39) |
D333V |
probably damaging |
Het |
| Meaf6 |
T |
A |
4: 124,979,990 (GRCm39) |
L48Q |
probably damaging |
Het |
| Miip |
T |
A |
4: 147,950,839 (GRCm39) |
|
probably benign |
Het |
| Muc4 |
A |
G |
16: 32,569,461 (GRCm39) |
T236A |
possibly damaging |
Het |
| Myh4 |
T |
A |
11: 67,132,335 (GRCm39) |
I155N |
probably damaging |
Het |
| Obscn |
C |
T |
11: 58,898,440 (GRCm39) |
R6607Q |
unknown |
Het |
| Or2ak7 |
C |
T |
11: 58,574,966 (GRCm39) |
T89I |
probably benign |
Het |
| Or5v1 |
G |
A |
17: 37,810,321 (GRCm39) |
V260M |
probably benign |
Het |
| Otof |
T |
C |
5: 30,529,044 (GRCm39) |
N1788S |
possibly damaging |
Het |
| Psapl1 |
T |
C |
5: 36,362,314 (GRCm39) |
L302S |
probably damaging |
Het |
| Rdh8 |
A |
C |
9: 20,734,021 (GRCm39) |
N69T |
probably benign |
Het |
| Ryr3 |
T |
C |
2: 112,624,844 (GRCm39) |
E2212G |
probably damaging |
Het |
| Septin7 |
A |
T |
9: 25,163,980 (GRCm39) |
N16Y |
possibly damaging |
Het |
| Slc22a17 |
A |
T |
14: 55,146,436 (GRCm39) |
L60Q |
probably damaging |
Het |
| Snrnp200 |
T |
C |
2: 127,060,349 (GRCm39) |
I531T |
probably damaging |
Het |
| Ssh3 |
A |
T |
19: 4,317,992 (GRCm39) |
V41E |
probably damaging |
Het |
| Tars1 |
G |
T |
15: 11,393,348 (GRCm39) |
N115K |
probably benign |
Het |
| Tomm6 |
G |
C |
17: 47,998,850 (GRCm39) |
F34L |
possibly damaging |
Het |
| Uba6 |
T |
A |
5: 86,289,454 (GRCm39) |
I450F |
possibly damaging |
Het |
| Vmn2r95 |
G |
T |
17: 18,664,113 (GRCm39) |
S516I |
possibly damaging |
Het |
| Vps4b |
A |
G |
1: 106,710,414 (GRCm39) |
F156L |
possibly damaging |
Het |
| Zfp354c |
T |
A |
11: 50,706,019 (GRCm39) |
H352L |
probably damaging |
Het |
| Zfp521 |
T |
C |
18: 14,072,150 (GRCm39) |
D30G |
probably benign |
Het |
| Zic2 |
A |
T |
14: 122,713,530 (GRCm39) |
H148L |
possibly damaging |
Het |
|
| Other mutations in Txnrd2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00333:Txnrd2
|
APN |
16 |
18,257,101 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00337:Txnrd2
|
APN |
16 |
18,296,519 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01988:Txnrd2
|
APN |
16 |
18,274,768 (GRCm39) |
splice site |
probably benign |
|
|
IGL02708:Txnrd2
|
APN |
16 |
18,287,590 (GRCm39) |
missense |
probably benign |
0.38 |
|
IGL02949:Txnrd2
|
APN |
16 |
18,296,456 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL03292:Txnrd2
|
APN |
16 |
18,296,479 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R0610:Txnrd2
|
UTSW |
16 |
18,291,632 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R0723:Txnrd2
|
UTSW |
16 |
18,259,629 (GRCm39) |
splice site |
probably benign |
|
|
R1625:Txnrd2
|
UTSW |
16 |
18,257,116 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3000:Txnrd2
|
UTSW |
16 |
18,273,263 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4180:Txnrd2
|
UTSW |
16 |
18,245,175 (GRCm39) |
splice site |
probably null |
|
|
R4569:Txnrd2
|
UTSW |
16 |
18,274,956 (GRCm39) |
missense |
probably benign |
|
|
R4570:Txnrd2
|
UTSW |
16 |
18,287,554 (GRCm39) |
missense |
probably benign |
0.02 |
|
R4773:Txnrd2
|
UTSW |
16 |
18,259,569 (GRCm39) |
missense |
probably benign |
0.15 |
|
R5385:Txnrd2
|
UTSW |
16 |
18,296,442 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6074:Txnrd2
|
UTSW |
16 |
18,256,297 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7247:Txnrd2
|
UTSW |
16 |
18,274,822 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7630:Txnrd2
|
UTSW |
16 |
18,257,140 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R8343:Txnrd2
|
UTSW |
16 |
18,245,291 (GRCm39) |
missense |
unknown |
|
|
R8383:Txnrd2
|
UTSW |
16 |
18,291,614 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R8428:Txnrd2
|
UTSW |
16 |
18,275,048 (GRCm39) |
missense |
unknown |
|
|
R9100:Txnrd2
|
UTSW |
16 |
18,256,315 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9455:Txnrd2
|
UTSW |
16 |
18,248,615 (GRCm39) |
missense |
probably damaging |
0.99 |
|
T0970:Txnrd2
|
UTSW |
16 |
18,260,523 (GRCm39) |
missense |
probably damaging |
0.97 |
|
T0975:Txnrd2
|
UTSW |
16 |
18,294,315 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTTAGACTGAAGCGAGCGGG -3'
(R):5'- CCATATGTCTACATGTGTCTCTGTTGG -3'
Sequencing Primer
(F):5'- CCTGACTTTCTTCAGTGATGCGAAAG -3'
(R):5'- ATGGTCCCACTATATAGCCCAGGG -3'
|
| Posted On |
2021-07-15 |
Incidental Mutation