Incidental Mutation 'IGL02708:Txnrd2'
| ID |
304449 |
| 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 # |
IGL02708
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
16 |
| Chromosomal Location |
18245167-18297823 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 18287590 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 331
(E331G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000111268
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000115605]
[ENSMUST00000115606]
[ENSMUST00000177856]
[ENSMUST00000178093]
[ENSMUST00000205679]
[ENSMUST00000206606]
[ENSMUST00000206151]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000115605
AA Change: E331G
PolyPhen 2
Score 0.380 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000111268
Gene: ENSMUSG00000075704
AA Change: E331G
| 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: E350G
PolyPhen 2
Score 0.169 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000111269
Gene: ENSMUSG00000075704
AA Change: E350G
| 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: E347G
PolyPhen 2
Score 0.169 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000136402
Gene: ENSMUSG00000075704
AA Change: E347G
| 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: E347G
PolyPhen 2
Score 0.112 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000136373
Gene: ENSMUSG00000075704
AA Change: E347G
| 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: ENSMUST00000205679
AA Change: E328G
PolyPhen 2
Score 0.169 (Sensitivity: 0.92; Specificity: 0.87)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000206606
AA Change: E350G
PolyPhen 2
Score 0.225 (Sensitivity: 0.91; Specificity: 0.88)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000206151
AA Change: E350G
PolyPhen 2
Score 0.169 (Sensitivity: 0.92; Specificity: 0.87)
|
| 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: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc4 |
A |
T |
14: 118,738,213 (GRCm39) |
V1104D |
probably damaging |
Het |
| Adgrl2 |
A |
T |
3: 148,532,161 (GRCm39) |
V1024E |
probably damaging |
Het |
| Agbl2 |
A |
G |
2: 90,631,686 (GRCm39) |
H348R |
probably benign |
Het |
| Aifm2 |
T |
C |
10: 61,574,354 (GRCm39) |
|
probably benign |
Het |
| Ankrd26 |
T |
C |
6: 118,495,379 (GRCm39) |
|
probably benign |
Het |
| Avpr1b |
A |
G |
1: 131,528,389 (GRCm39) |
D304G |
probably damaging |
Het |
| Duox1 |
A |
G |
2: 122,156,498 (GRCm39) |
D475G |
possibly damaging |
Het |
| E2f8 |
T |
C |
7: 48,516,982 (GRCm39) |
|
probably null |
Het |
| Fat2 |
T |
A |
11: 55,173,211 (GRCm39) |
I2501F |
probably damaging |
Het |
| Gm4181 |
A |
G |
14: 51,870,689 (GRCm39) |
C91R |
probably benign |
Het |
| Gm5424 |
T |
A |
10: 61,907,390 (GRCm39) |
|
noncoding transcript |
Het |
| Gnai3 |
A |
G |
3: 108,025,660 (GRCm39) |
F140L |
probably benign |
Het |
| Htra1 |
A |
T |
7: 130,563,765 (GRCm39) |
D212V |
probably damaging |
Het |
| Irgm2 |
T |
C |
11: 58,111,350 (GRCm39) |
V347A |
probably benign |
Het |
| Itch |
A |
G |
2: 155,015,964 (GRCm39) |
T150A |
probably benign |
Het |
| Itgb3 |
A |
C |
11: 104,528,655 (GRCm39) |
I261L |
possibly damaging |
Het |
| Kalrn |
C |
T |
16: 34,212,420 (GRCm39) |
V31M |
probably damaging |
Het |
| Klra7 |
C |
T |
6: 130,203,463 (GRCm39) |
C181Y |
probably damaging |
Het |
| Klrb1 |
A |
G |
6: 128,690,548 (GRCm39) |
L58S |
probably benign |
Het |
| Kndc1 |
A |
G |
7: 139,481,097 (GRCm39) |
E61G |
probably damaging |
Het |
| Krt78 |
T |
A |
15: 101,861,842 (GRCm39) |
T135S |
possibly damaging |
Het |
| Mpdz |
A |
G |
4: 81,202,808 (GRCm39) |
|
probably null |
Het |
| Mphosph6 |
A |
G |
8: 118,519,525 (GRCm39) |
|
probably benign |
Het |
| Myo19 |
T |
C |
11: 84,790,222 (GRCm39) |
S393P |
possibly damaging |
Het |
| Or51a5 |
A |
G |
7: 102,771,027 (GRCm39) |
|
probably benign |
Het |
| Or8g53 |
T |
C |
9: 39,683,214 (GRCm39) |
N294S |
probably damaging |
Het |
| Pkdrej |
T |
C |
15: 85,704,988 (GRCm39) |
Y316C |
probably damaging |
Het |
| Pkp3 |
A |
T |
7: 140,669,681 (GRCm39) |
|
probably benign |
Het |
| Pramel31 |
T |
A |
4: 144,089,983 (GRCm39) |
L341H |
probably damaging |
Het |
| Psmb8 |
A |
G |
17: 34,420,217 (GRCm39) |
K270E |
probably benign |
Het |
| Ptprq |
T |
C |
10: 107,488,561 (GRCm39) |
N959D |
probably damaging |
Het |
| Rab6b |
T |
G |
9: 103,038,074 (GRCm39) |
|
probably null |
Het |
| Rhobtb3 |
T |
C |
13: 76,065,843 (GRCm39) |
D180G |
probably damaging |
Het |
| Sccpdh |
G |
A |
1: 179,508,074 (GRCm39) |
C238Y |
probably benign |
Het |
| Srm |
C |
T |
4: 148,677,803 (GRCm39) |
S147L |
probably benign |
Het |
| Synj1 |
A |
T |
16: 90,788,350 (GRCm39) |
S173T |
probably damaging |
Het |
| Tas1r1 |
T |
C |
4: 152,112,797 (GRCm39) |
E752G |
possibly damaging |
Het |
| Tmem151a |
G |
T |
19: 5,132,875 (GRCm39) |
Y110* |
probably null |
Het |
| Ttn |
A |
G |
2: 76,556,957 (GRCm39) |
V30016A |
probably damaging |
Het |
| Vldlr |
T |
C |
19: 27,215,485 (GRCm39) |
C161R |
possibly damaging |
Het |
| Vmn1r91 |
T |
A |
7: 19,835,415 (GRCm39) |
S111R |
probably damaging |
Het |
| Vmn2r66 |
T |
A |
7: 84,655,796 (GRCm39) |
I407F |
probably benign |
Het |
| Vps13d |
T |
C |
4: 144,854,850 (GRCm39) |
M2258V |
probably benign |
Het |
| Ypel1 |
A |
T |
16: 16,923,872 (GRCm39) |
V59D |
probably benign |
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 |
|
|
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 |
2015-04-16 |
Incidental Mutation