Incidental Mutation 'R6074:Txnrd2'
| ID |
482672 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Txnrd2
|
| Ensembl Gene |
ENSMUSG00000075704 |
| Gene Name |
thioredoxin reductase 2 |
| Synonyms |
ESTM573010, TGR, TR beta, TR3 |
| MMRRC Submission |
044235-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6074 (G1)
|
| Quality Score |
206.009 |
|
Status
|
Validated
|
| Chromosome |
16 |
| Chromosomal Location |
18245167-18297823 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 18256297 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 95
(I95T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000146143
(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: I95T
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000111267
Gene: ENSMUSG00000075704
AA Change: I95T
| 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 |
unknown
Transcript: ENSMUST00000115605
AA Change: I76T
|
| SMART Domains |
Protein: ENSMUSP00000111268
Gene: ENSMUSG00000075704
AA Change: I76T
| 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: I95T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000111269
Gene: ENSMUSG00000075704
AA Change: I95T
| 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 damaging
Transcript: ENSMUST00000126778
AA Change: I68T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000131303
AA Change: I89T
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000138310
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000144233
AA Change: I59T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000177856
AA Change: I92T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000136402
Gene: ENSMUSG00000075704
AA Change: I92T
| 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: I92T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000136373
Gene: ENSMUSG00000075704
AA Change: I92T
| 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: I73T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000206151
AA Change: I95T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000206606
AA Change: I95T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Meta Mutation Damage Score |
0.9464 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.2%
- 20x: 95.1%
|
| Validation Efficiency |
97% (61/63) |
| 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: 62 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Amigo1 |
T |
A |
3: 108,099,009 (GRCm39) |
C189* |
probably null |
Het |
| Auts2 |
G |
T |
5: 131,505,828 (GRCm39) |
|
probably benign |
Het |
| Cadps2 |
C |
A |
6: 23,626,670 (GRCm39) |
W177L |
probably damaging |
Het |
| Camk2b |
G |
T |
11: 5,939,635 (GRCm39) |
P223Q |
probably damaging |
Het |
| Ccdc74a |
C |
A |
16: 17,464,591 (GRCm39) |
S9* |
probably null |
Het |
| Ccnt1 |
A |
C |
15: 98,441,205 (GRCm39) |
Y688D |
probably damaging |
Het |
| Cdhr1 |
T |
C |
14: 36,801,600 (GRCm39) |
N781S |
probably benign |
Het |
| Ceacam3 |
C |
T |
7: 16,885,484 (GRCm39) |
T29I |
probably benign |
Het |
| Cep170b |
T |
C |
12: 112,710,589 (GRCm39) |
S1473P |
probably damaging |
Het |
| Col19a1 |
T |
A |
1: 24,565,564 (GRCm39) |
T256S |
unknown |
Het |
| Eif2d |
T |
A |
1: 131,094,079 (GRCm39) |
D423E |
probably damaging |
Het |
| Fam13a |
A |
G |
6: 58,966,723 (GRCm39) |
|
probably null |
Het |
| Gaa |
G |
A |
11: 119,175,012 (GRCm39) |
R871H |
probably benign |
Het |
| Galnt12 |
T |
A |
4: 47,112,405 (GRCm39) |
V37D |
probably damaging |
Het |
| Glp2r |
A |
G |
11: 67,637,640 (GRCm39) |
S13P |
unknown |
Het |
| Gnptab |
C |
T |
10: 88,268,940 (GRCm39) |
L548F |
probably damaging |
Het |
| Heg1 |
C |
T |
16: 33,547,573 (GRCm39) |
P787S |
possibly damaging |
Het |
| Hivep2 |
T |
A |
10: 14,007,485 (GRCm39) |
M1361K |
probably benign |
Het |
| Hivep3 |
T |
C |
4: 119,954,891 (GRCm39) |
I1069T |
possibly damaging |
Het |
| Hspg2 |
A |
G |
4: 137,268,046 (GRCm39) |
D2121G |
probably benign |
Het |
| Htatip2 |
A |
G |
7: 49,422,322 (GRCm39) |
|
probably null |
Het |
| Ighv1-75 |
T |
C |
12: 115,798,007 (GRCm39) |
S4G |
probably benign |
Het |
| Ip6k1 |
A |
G |
9: 107,901,308 (GRCm39) |
|
probably benign |
Het |
| Kcna6 |
A |
G |
6: 126,716,242 (GRCm39) |
S216P |
probably benign |
Het |
| Kif21a |
T |
A |
15: 90,865,095 (GRCm39) |
T526S |
probably benign |
Het |
| Kng2 |
C |
T |
16: 22,819,346 (GRCm39) |
G230D |
probably benign |
Het |
| Lgi2 |
A |
T |
5: 52,703,984 (GRCm39) |
F216I |
probably benign |
Het |
| Lratd1 |
G |
A |
12: 14,200,512 (GRCm39) |
H72Y |
probably benign |
Het |
| Lss |
T |
A |
10: 76,379,693 (GRCm39) |
N383K |
probably damaging |
Het |
| Mical1 |
T |
C |
10: 41,362,061 (GRCm39) |
M929T |
probably benign |
Het |
| Mroh2a |
A |
G |
1: 88,186,386 (GRCm39) |
S64G |
probably benign |
Het |
| Nat8f4 |
A |
G |
6: 85,878,169 (GRCm39) |
V118A |
probably damaging |
Het |
| Or10j5 |
T |
A |
1: 172,784,945 (GRCm39) |
N194K |
probably benign |
Het |
| Or4p23 |
A |
C |
2: 88,576,566 (GRCm39) |
L222R |
probably damaging |
Het |
| Or6b2 |
G |
A |
1: 92,407,497 (GRCm39) |
T282M |
probably benign |
Het |
| Osbpl11 |
T |
A |
16: 33,030,335 (GRCm39) |
S188T |
probably benign |
Het |
| Pea15a |
C |
T |
1: 172,026,752 (GRCm39) |
R85H |
possibly damaging |
Het |
| Ppp1r13b |
A |
G |
12: 111,798,836 (GRCm39) |
I919T |
probably damaging |
Het |
| Rasgrf1 |
A |
G |
9: 89,835,968 (GRCm39) |
D232G |
probably benign |
Het |
| Rp1 |
A |
G |
1: 4,415,602 (GRCm39) |
S1837P |
probably benign |
Het |
| Samd5 |
T |
A |
10: 9,550,334 (GRCm39) |
Y125F |
possibly damaging |
Het |
| Skint5 |
T |
C |
4: 113,662,397 (GRCm39) |
T597A |
unknown |
Het |
| Slc25a12 |
A |
G |
2: 71,106,798 (GRCm39) |
F605L |
probably benign |
Het |
| Slc39a12 |
C |
T |
2: 14,412,290 (GRCm39) |
Q321* |
probably null |
Het |
| Slc6a19 |
T |
C |
13: 73,837,882 (GRCm39) |
S206G |
probably benign |
Het |
| Tacc2 |
T |
A |
7: 130,227,165 (GRCm39) |
H1283Q |
possibly damaging |
Het |
| Thumpd3 |
A |
G |
6: 113,036,971 (GRCm39) |
E290G |
possibly damaging |
Het |
| Timd2 |
C |
T |
11: 46,577,999 (GRCm39) |
G44D |
possibly damaging |
Het |
| Tmem74 |
A |
G |
15: 43,730,134 (GRCm39) |
V303A |
possibly damaging |
Het |
| Tpo |
A |
G |
12: 30,128,186 (GRCm39) |
V785A |
probably benign |
Het |
| Tpra1 |
T |
A |
6: 88,888,919 (GRCm39) |
I367N |
possibly damaging |
Het |
| Usp32 |
A |
G |
11: 84,885,399 (GRCm39) |
V1216A |
probably benign |
Het |
| Usp54 |
C |
A |
14: 20,602,167 (GRCm39) |
M1394I |
probably benign |
Het |
| Vmn2r13 |
A |
G |
5: 109,322,167 (GRCm39) |
F177L |
probably benign |
Het |
| Vmn2r82 |
T |
A |
10: 79,232,377 (GRCm39) |
V792E |
probably damaging |
Het |
| Wdfy4 |
C |
T |
14: 32,805,596 (GRCm39) |
|
probably null |
Het |
| Wnk2 |
A |
T |
13: 49,204,875 (GRCm39) |
C458S |
probably damaging |
Het |
| Xkr6 |
T |
G |
14: 63,844,519 (GRCm39) |
F181V |
possibly damaging |
Het |
| Zfp212 |
T |
A |
6: 47,903,986 (GRCm39) |
C149* |
probably null |
Het |
| Zfp647 |
G |
A |
15: 76,796,285 (GRCm39) |
P125L |
probably damaging |
Het |
| Zfp661 |
A |
G |
2: 127,419,793 (GRCm39) |
S116P |
probably benign |
Het |
| Zfp770 |
A |
G |
2: 114,026,870 (GRCm39) |
Y400H |
possibly 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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATCAAATCTATTCCTACCAGTGCC -3'
(R):5'- TCACGGTTACAGATGAGTGGC -3'
|
| Posted On |
2017-07-14 |
Incidental Mutation