Incidental Mutation 'IGL01763:Txnrd3'
| ID |
153615 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Txnrd3
|
| Ensembl Gene |
ENSMUSG00000000811 |
| Gene Name |
thioredoxin reductase 3 |
| Synonyms |
TR2, Tgr |
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.695)
|
| Stock # |
IGL01763
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
89620970-89652511 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 89638537 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Isoleucine
at position 242
(T242I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000098730
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000000828]
[ENSMUST00000101171]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000000828
AA Change: T242I
PolyPhen 2
Score 0.381 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000000828
Gene: ENSMUSG00000000811
AA Change: T242I
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
17 |
34 |
N/A |
INTRINSIC |
|
Pfam:Glutaredoxin
|
40 |
102 |
9.2e-18 |
PFAM |
|
Pfam:Pyr_redox_2
|
129 |
466 |
2.5e-66 |
PFAM |
|
Pfam:FAD_binding_2
|
130 |
290 |
4.6e-9 |
PFAM |
|
Pfam:Pyr_redox
|
309 |
386 |
9.6e-16 |
PFAM |
|
Pfam:Pyr_redox_dim
|
486 |
599 |
2.7e-31 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000101171
AA Change: T242I
PolyPhen 2
Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000098730
Gene: ENSMUSG00000000811
AA Change: T242I
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
17 |
34 |
N/A |
INTRINSIC |
|
Pfam:Glutaredoxin
|
40 |
102 |
1.5e-18 |
PFAM |
|
Pfam:Thi4
|
116 |
222 |
3.9e-7 |
PFAM |
|
Pfam:FAD_binding_2
|
130 |
264 |
3.7e-9 |
PFAM |
|
Pfam:Pyr_redox_2
|
130 |
342 |
2.9e-24 |
PFAM |
|
Pfam:Pyr_redox_dim
|
372 |
485 |
2.8e-31 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: This gene encodes a member of the family of pyridine nucleotide oxidoreductases. This protein catalyzes the reduction of thioredoxin, but unlike other mammalian thioredoxin reductases (TRs), it contains an additional glutaredoxin domain, and shows highest expression in testes. Like other TRs, it contains a C-terminal, penultimate 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. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. There is also evidence for the use of a non-AUG (CUG) translation initiation site upstream of, and in-frame with the first AUG, leading to additional isoforms. [provided by RefSeq, May 2010]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 27 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acer3 |
C |
T |
7: 97,915,339 (GRCm39) |
|
probably benign |
Het |
| Atp4a |
A |
G |
7: 30,414,943 (GRCm39) |
E244G |
probably benign |
Het |
| Cdh20 |
T |
C |
1: 109,993,520 (GRCm39) |
I325T |
probably benign |
Het |
| Dennd2c |
T |
C |
3: 103,064,224 (GRCm39) |
L623P |
probably damaging |
Het |
| Eef1akmt3 |
T |
C |
10: 126,876,952 (GRCm39) |
D65G |
probably benign |
Het |
| Gimap3 |
T |
A |
6: 48,742,430 (GRCm39) |
S167C |
probably damaging |
Het |
| Gm12185 |
A |
T |
11: 48,806,671 (GRCm39) |
F173L |
probably benign |
Het |
| Gm5611 |
A |
G |
9: 16,941,699 (GRCm39) |
|
noncoding transcript |
Het |
| Gpr161 |
T |
C |
1: 165,144,820 (GRCm39) |
S387P |
probably benign |
Het |
| Hsd17b8 |
A |
G |
17: 34,245,835 (GRCm39) |
V219A |
probably damaging |
Het |
| Mtfr2 |
G |
A |
10: 20,228,683 (GRCm39) |
|
probably benign |
Het |
| Myh8 |
A |
G |
11: 67,177,245 (GRCm39) |
K437R |
probably benign |
Het |
| Myo15a |
A |
G |
11: 60,412,564 (GRCm39) |
D3335G |
probably benign |
Het |
| Ndufaf7 |
C |
T |
17: 79,253,771 (GRCm39) |
T323I |
possibly damaging |
Het |
| Or5g29 |
A |
G |
2: 85,421,691 (GRCm39) |
N269S |
probably benign |
Het |
| Pcdh15 |
T |
C |
10: 74,046,293 (GRCm39) |
V190A |
probably benign |
Het |
| Pdzd2 |
A |
G |
15: 12,372,632 (GRCm39) |
V2501A |
probably benign |
Het |
| Piwil4 |
A |
T |
9: 14,617,562 (GRCm39) |
|
probably null |
Het |
| Plxnb2 |
C |
T |
15: 89,046,184 (GRCm39) |
|
probably null |
Het |
| Sgcd |
A |
G |
11: 47,085,856 (GRCm39) |
|
probably null |
Het |
| Sin3b |
A |
G |
8: 73,473,236 (GRCm39) |
K519E |
probably damaging |
Het |
| Slc26a4 |
C |
T |
12: 31,578,853 (GRCm39) |
|
probably benign |
Het |
| Spty2d1 |
T |
C |
7: 46,649,596 (GRCm39) |
D33G |
probably damaging |
Het |
| Vps13b |
A |
G |
15: 35,709,945 (GRCm39) |
D1964G |
possibly damaging |
Het |
| Wdr24 |
A |
G |
17: 26,045,164 (GRCm39) |
T300A |
probably benign |
Het |
| Zc2hc1c |
C |
A |
12: 85,336,450 (GRCm39) |
Q36K |
probably benign |
Het |
| Zfp719 |
A |
T |
7: 43,233,613 (GRCm39) |
I11F |
probably benign |
Het |
|
| Other mutations in Txnrd3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01449:Txnrd3
|
APN |
6 |
89,631,129 (GRCm39) |
missense |
probably benign |
0.15 |
|
IGL02159:Txnrd3
|
APN |
6 |
89,646,306 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02238:Txnrd3
|
APN |
6 |
89,633,117 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL02452:Txnrd3
|
APN |
6 |
89,651,777 (GRCm39) |
makesense |
probably null |
|
|
R1054:Txnrd3
|
UTSW |
6 |
89,627,543 (GRCm39) |
nonsense |
probably null |
|
|
R3522:Txnrd3
|
UTSW |
6 |
89,640,057 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R5108:Txnrd3
|
UTSW |
6 |
89,650,016 (GRCm39) |
missense |
probably benign |
0.33 |
|
R5653:Txnrd3
|
UTSW |
6 |
89,631,067 (GRCm39) |
missense |
probably benign |
0.25 |
|
R6159:Txnrd3
|
UTSW |
6 |
89,640,176 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6246:Txnrd3
|
UTSW |
6 |
89,628,523 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6519:Txnrd3
|
UTSW |
6 |
89,631,405 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6661:Txnrd3
|
UTSW |
6 |
89,631,134 (GRCm39) |
nonsense |
probably null |
|
|
R6685:Txnrd3
|
UTSW |
6 |
89,646,897 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R7353:Txnrd3
|
UTSW |
6 |
89,638,567 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8987:Txnrd3
|
UTSW |
6 |
89,638,477 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R9014:Txnrd3
|
UTSW |
6 |
89,631,091 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9479:Txnrd3
|
UTSW |
6 |
89,640,084 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R9506:Txnrd3
|
UTSW |
6 |
89,638,461 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R9528:Txnrd3
|
UTSW |
6 |
89,649,954 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9574:Txnrd3
|
UTSW |
6 |
89,640,166 (GRCm39) |
nonsense |
probably null |
|
|
R9727:Txnrd3
|
UTSW |
6 |
89,651,751 (GRCm39) |
missense |
probably benign |
0.02 |
|
R9802:Txnrd3
|
UTSW |
6 |
89,640,176 (GRCm39) |
critical splice donor site |
probably null |
|
|
| Posted On |
2014-02-04 |
Incidental Mutation