Incidental Mutation 'IGL00333:Txnrd2'
| ID |
332299 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Txnrd2
|
| Ensembl Gene |
ENSMUSG00000075704 |
| Gene Name |
thioredoxin reductase 2 |
| Synonyms |
ESTM573010, TGR, TR beta, TR3 |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL00333
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
16 |
| Chromosomal Location |
18245167-18297823 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 18257101 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 139
(V139A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000146030
(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 |
probably damaging
Transcript: ENSMUST00000115604
AA Change: V139A
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000111267
Gene: ENSMUSG00000075704
AA Change: V139A
| 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 |
probably damaging
Transcript: ENSMUST00000115605
AA Change: V120A
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000111268
Gene: ENSMUSG00000075704
AA Change: V120A
| 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 |
probably damaging
Transcript: ENSMUST00000115606
AA Change: V139A
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000111269
Gene: ENSMUSG00000075704
AA Change: V139A
| 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 |
probably benign
Transcript: ENSMUST00000138310
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000144233
AA Change: V103A
PolyPhen 2
Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000177856
AA Change: V136A
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000136402
Gene: ENSMUSG00000075704
AA Change: V136A
| 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 |
probably damaging
Transcript: ENSMUST00000178093
AA Change: V136A
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000136373
Gene: ENSMUSG00000075704
AA Change: V136A
| 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 |
probably damaging
Transcript: ENSMUST00000205679
AA Change: V117A
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000206151
AA Change: V139A
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000206606
AA Change: V139A
PolyPhen 2
Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| 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: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Atosa |
T |
C |
9: 74,933,072 (GRCm39) |
I1006T |
probably benign |
Het |
| Atp8b3 |
C |
T |
10: 80,366,821 (GRCm39) |
C259Y |
probably damaging |
Het |
| Bag6 |
T |
G |
17: 35,363,627 (GRCm39) |
D770E |
probably damaging |
Het |
| Ccdc8 |
T |
A |
7: 16,729,967 (GRCm39) |
D485E |
unknown |
Het |
| Cyp2c54 |
A |
C |
19: 40,060,522 (GRCm39) |
V153G |
probably damaging |
Het |
| Haus8 |
A |
G |
8: 71,708,289 (GRCm39) |
|
probably null |
Het |
| Hgf |
A |
T |
5: 16,816,880 (GRCm39) |
T499S |
possibly damaging |
Het |
| Ifitm1 |
T |
A |
7: 140,549,537 (GRCm39) |
*107R |
probably null |
Het |
| Kcnq4 |
G |
A |
4: 120,555,213 (GRCm39) |
Q657* |
probably null |
Het |
| Klk1b27 |
T |
A |
7: 43,705,567 (GRCm39) |
|
probably null |
Het |
| Lpin2 |
C |
A |
17: 71,550,967 (GRCm39) |
T709K |
probably damaging |
Het |
| Lrig3 |
T |
C |
10: 125,849,017 (GRCm39) |
L945P |
probably benign |
Het |
| Lrrn4 |
C |
T |
2: 132,712,737 (GRCm39) |
C362Y |
probably damaging |
Het |
| Map3k20 |
T |
C |
2: 72,202,320 (GRCm39) |
S184P |
probably damaging |
Het |
| Nr2f1 |
A |
T |
13: 78,337,952 (GRCm39) |
V231E |
probably damaging |
Het |
| Or12d13 |
A |
T |
17: 37,647,474 (GRCm39) |
Y216* |
probably null |
Het |
| Orc1 |
T |
C |
4: 108,452,522 (GRCm39) |
|
probably benign |
Het |
| Osr1 |
A |
C |
12: 9,629,432 (GRCm39) |
I102L |
probably benign |
Het |
| Pcbd1 |
A |
T |
10: 60,927,949 (GRCm39) |
Q37L |
probably benign |
Het |
| Pclo |
C |
T |
5: 14,571,691 (GRCm39) |
Q359* |
probably null |
Het |
| Rpgrip1 |
A |
T |
14: 52,387,895 (GRCm39) |
|
probably null |
Het |
| Sox4 |
C |
A |
13: 29,136,956 (GRCm39) |
G17W |
probably damaging |
Het |
| Speer4a2 |
A |
G |
5: 26,291,491 (GRCm39) |
M105T |
possibly damaging |
Het |
| Sspo |
A |
G |
6: 48,447,387 (GRCm39) |
T2184A |
probably benign |
Het |
| Synpo2 |
C |
T |
3: 122,906,859 (GRCm39) |
G819D |
probably damaging |
Het |
| Taar8b |
A |
G |
10: 23,967,654 (GRCm39) |
V180A |
possibly damaging |
Het |
| Tbc1d8 |
T |
C |
1: 39,433,210 (GRCm39) |
D324G |
probably damaging |
Het |
| Tcaf2 |
A |
T |
6: 42,606,970 (GRCm39) |
L328* |
probably null |
Het |
| Tmem253 |
T |
C |
14: 52,255,418 (GRCm39) |
L76P |
probably damaging |
Het |
| Tsc1 |
G |
A |
2: 28,551,623 (GRCm39) |
V46I |
probably damaging |
Het |
| Ttn |
A |
T |
2: 76,779,425 (GRCm39) |
F1152I |
probably benign |
Het |
| Ublcp1 |
T |
C |
11: 44,351,597 (GRCm39) |
D212G |
probably damaging |
Het |
| Utrn |
A |
T |
10: 12,547,574 (GRCm39) |
L1622Q |
probably damaging |
Het |
| Vmn2r103 |
A |
G |
17: 20,013,364 (GRCm39) |
T162A |
probably damaging |
Het |
|
| Other mutations in Txnrd2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
|
R8852:Txnrd2
|
UTSW |
16 |
18,259,601 (GRCm39) |
missense |
possibly damaging |
0.54 |
|
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 |
|
| Posted On |
2015-08-05 |
Incidental Mutation