Incidental Mutation 'IGL03292:Txnrd2'
| ID |
415940 |
| 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 # |
IGL03292
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
16 |
| Chromosomal Location |
18245167-18297823 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 18296479 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Glutamine
at position 511
(H511Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000146030
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000115605]
[ENSMUST00000115606]
[ENSMUST00000177856]
[ENSMUST00000178093]
[ENSMUST00000206606]
[ENSMUST00000205679]
[ENSMUST00000206151]
|
| 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 |
possibly damaging
Transcript: ENSMUST00000115606
AA Change: H511Q
PolyPhen 2
Score 0.529 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000111269
Gene: ENSMUSG00000075704
AA Change: H511Q
| 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 |
possibly damaging
Transcript: ENSMUST00000177856
AA Change: H508Q
PolyPhen 2
Score 0.529 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000136402
Gene: ENSMUSG00000075704
AA Change: H508Q
| 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: H477Q
PolyPhen 2
Score 0.522 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000136373
Gene: ENSMUSG00000075704
AA Change: H477Q
| 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: H480Q
PolyPhen 2
Score 0.045 (Sensitivity: 0.94; Specificity: 0.83)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000205679
AA Change: H489Q
PolyPhen 2
Score 0.529 (Sensitivity: 0.88; Specificity: 0.90)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000206151
AA Change: H511Q
PolyPhen 2
Score 0.529 (Sensitivity: 0.88; Specificity: 0.90)
|
| 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: 24 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb1a |
G |
A |
5: 8,765,827 (GRCm39) |
C713Y |
possibly damaging |
Het |
| Arhgap45 |
A |
G |
10: 79,856,803 (GRCm39) |
N205S |
probably benign |
Het |
| Arhgef5 |
T |
G |
6: 43,257,180 (GRCm39) |
F1244V |
probably damaging |
Het |
| Bbs2 |
A |
G |
8: 94,801,749 (GRCm39) |
|
probably null |
Het |
| Chsy1 |
A |
C |
7: 65,775,120 (GRCm39) |
M150L |
probably benign |
Het |
| Dync1h1 |
T |
A |
12: 110,632,989 (GRCm39) |
|
probably null |
Het |
| Efhc1 |
T |
C |
1: 21,030,496 (GRCm39) |
I143T |
possibly damaging |
Het |
| Elf4 |
A |
C |
X: 47,503,583 (GRCm39) |
F642C |
probably damaging |
Het |
| Fgfr1 |
A |
G |
8: 26,047,771 (GRCm39) |
D128G |
possibly damaging |
Het |
| Fras1 |
T |
A |
5: 96,855,350 (GRCm39) |
I1953N |
probably damaging |
Het |
| Frmpd4 |
A |
T |
X: 166,260,586 (GRCm39) |
I1052K |
probably benign |
Het |
| Ift52 |
T |
A |
2: 162,865,320 (GRCm39) |
I57N |
probably damaging |
Het |
| Lilrb4a |
G |
A |
10: 51,370,942 (GRCm39) |
|
probably null |
Het |
| Mob3a |
A |
T |
10: 80,526,920 (GRCm39) |
I135N |
probably benign |
Het |
| Pcdhb16 |
T |
A |
18: 37,613,437 (GRCm39) |
I799N |
probably damaging |
Het |
| Rad52 |
T |
C |
6: 119,895,934 (GRCm39) |
L265P |
possibly damaging |
Het |
| Sorbs1 |
T |
A |
19: 40,362,009 (GRCm39) |
Q155L |
possibly damaging |
Het |
| Taok1 |
A |
T |
11: 77,430,962 (GRCm39) |
M821K |
probably benign |
Het |
| Tars1 |
T |
A |
15: 11,384,107 (GRCm39) |
E720V |
probably benign |
Het |
| Tec |
T |
C |
5: 72,914,707 (GRCm39) |
E603G |
probably null |
Het |
| Timp1 |
A |
G |
X: 20,739,057 (GRCm39) |
T56A |
probably benign |
Het |
| Ubr4 |
A |
T |
4: 139,167,746 (GRCm39) |
D2743V |
probably damaging |
Het |
| Vmn1r211 |
C |
T |
13: 23,036,613 (GRCm39) |
G18D |
probably damaging |
Het |
| Zfhx4 |
C |
T |
3: 5,476,840 (GRCm39) |
Q3127* |
probably null |
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 |
|
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 |
2016-08-02 |
Incidental Mutation