Incidental Mutation 'IGL02949:Txnrd2'
| ID |
364877 |
| 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 # |
IGL02949
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
16 |
| Chromosomal Location |
18245167-18297823 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 18296456 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Alanine
at position 473
(S473A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000146143
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000115605]
[ENSMUST00000115606]
[ENSMUST00000177856]
[ENSMUST00000178093]
[ENSMUST00000206606]
[ENSMUST00000206151]
[ENSMUST00000205679]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000115605
|
| SMART Domains |
Protein: ENSMUSP00000111268
Gene: ENSMUSG00000075704
| 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 benign
Transcript: ENSMUST00000115606
AA Change: S504A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000111269
Gene: ENSMUSG00000075704
AA Change: S504A
| 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 |
noncoding transcript
Transcript: ENSMUST00000126330
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149937
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153457
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156604
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000177856
AA Change: S501A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000136402
Gene: ENSMUSG00000075704
AA Change: S501A
| 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 benign
Transcript: ENSMUST00000178093
AA Change: S470A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000136373
Gene: ENSMUSG00000075704
AA Change: S470A
| 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 benign
Transcript: ENSMUST00000206606
AA Change: S473A
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000206151
AA Change: S504A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000205679
AA Change: S482A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000232530
|
| 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: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadacl4 |
G |
A |
4: 144,344,490 (GRCm39) |
V89I |
probably damaging |
Het |
| Abhd5 |
T |
C |
9: 122,206,980 (GRCm39) |
F89L |
possibly damaging |
Het |
| Akr1c13 |
T |
A |
13: 4,248,593 (GRCm39) |
V266E |
probably damaging |
Het |
| B4galt2 |
C |
T |
4: 117,738,602 (GRCm39) |
A72T |
probably benign |
Het |
| Ccdc141 |
T |
C |
2: 76,857,938 (GRCm39) |
Y1081C |
probably damaging |
Het |
| Coq8b |
T |
C |
7: 26,956,038 (GRCm39) |
V405A |
possibly damaging |
Het |
| Ddah2 |
A |
G |
17: 35,280,776 (GRCm39) |
K251E |
probably damaging |
Het |
| Dnah5 |
T |
C |
15: 28,272,331 (GRCm39) |
V1045A |
probably benign |
Het |
| Dpy19l1 |
A |
T |
9: 24,332,476 (GRCm39) |
M662K |
probably benign |
Het |
| Dpys |
A |
G |
15: 39,690,279 (GRCm39) |
V358A |
probably damaging |
Het |
| H2-D1 |
A |
G |
17: 35,483,064 (GRCm39) |
N198S |
probably benign |
Het |
| Hnrnpa1 |
T |
C |
15: 103,150,538 (GRCm39) |
V163A |
probably damaging |
Het |
| Hr |
C |
T |
14: 70,797,225 (GRCm39) |
R543C |
possibly damaging |
Het |
| Lct |
C |
T |
1: 128,240,869 (GRCm39) |
V245M |
probably benign |
Het |
| Lpl |
G |
A |
8: 69,345,400 (GRCm39) |
V135M |
probably damaging |
Het |
| Mblac1 |
T |
A |
5: 138,193,119 (GRCm39) |
C154S |
probably benign |
Het |
| Mmp9 |
T |
C |
2: 164,793,039 (GRCm39) |
F396S |
probably damaging |
Het |
| Mroh1 |
A |
T |
15: 76,293,168 (GRCm39) |
H314L |
probably damaging |
Het |
| Msantd4 |
T |
A |
9: 4,385,196 (GRCm39) |
L307Q |
probably damaging |
Het |
| Nol8 |
A |
G |
13: 49,815,878 (GRCm39) |
D662G |
probably benign |
Het |
| Nynrin |
G |
A |
14: 56,109,837 (GRCm39) |
S1648N |
probably damaging |
Het |
| Or52a20 |
A |
G |
7: 103,366,427 (GRCm39) |
I209V |
probably benign |
Het |
| Plcb2 |
C |
T |
2: 118,549,590 (GRCm39) |
|
probably null |
Het |
| Scyl2 |
T |
A |
10: 89,496,163 (GRCm39) |
N229I |
possibly damaging |
Het |
| Spryd3 |
C |
T |
15: 102,026,544 (GRCm39) |
E376K |
probably benign |
Het |
| Srr |
T |
G |
11: 74,799,563 (GRCm39) |
E304A |
probably benign |
Het |
| Srsf1 |
A |
G |
11: 87,940,352 (GRCm39) |
|
probably benign |
Het |
| Wdr18 |
T |
A |
10: 79,800,889 (GRCm39) |
C151S |
probably benign |
Het |
| Zfp282 |
C |
T |
6: 47,874,848 (GRCm39) |
T351I |
probably 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 |
|
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 |
2015-12-18 |
Incidental Mutation