Incidental Mutation 'IGL00470:Txndc2'
| ID |
3442 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Txndc2
|
| Ensembl Gene |
ENSMUSG00000050612 |
| Gene Name |
thioredoxin domain containing 2 (spermatozoa) |
| Synonyms |
Sptrx-1 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.216)
|
| Stock # |
IGL00470
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
17 |
| Chromosomal Location |
65944502-65949163 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 65945569 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Threonine
at position 203
(S203T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000054909
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000050236]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000050236
AA Change: S203T
PolyPhen 2
Score 0.413 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000054909
Gene: ENSMUSG00000050612
AA Change: S203T
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
10 |
19 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
70 |
232 |
1.7e-7 |
PROSPERO |
|
internal_repeat_1
|
252 |
426 |
1.7e-7 |
PROSPERO |
|
Pfam:Thioredoxin
|
447 |
548 |
3.6e-24 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Homozygous mutation of this gene displays normal reproductive system phenotype while results in increased body size, increased serum phosphorus level and decreased serum IL-6 response to LPS challenge. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4732463B04Rik |
G |
T |
12: 84,090,578 (GRCm39) |
|
probably benign |
Het |
| Abcd1 |
T |
C |
X: 72,761,154 (GRCm39) |
L173P |
probably damaging |
Het |
| Adam18 |
T |
A |
8: 25,118,149 (GRCm39) |
D41V |
probably damaging |
Het |
| Armh4 |
A |
T |
14: 50,010,460 (GRCm39) |
S416T |
probably damaging |
Het |
| Aspa |
T |
G |
11: 73,204,447 (GRCm39) |
|
probably benign |
Het |
| Cacna2d1 |
T |
A |
5: 16,451,654 (GRCm39) |
|
probably benign |
Het |
| Cracd |
G |
A |
5: 77,013,903 (GRCm39) |
|
probably benign |
Het |
| Cubn |
T |
A |
2: 13,283,229 (GRCm39) |
I3570L |
probably benign |
Het |
| Cyp2j13 |
G |
A |
4: 95,950,275 (GRCm39) |
P242L |
probably damaging |
Het |
| Cysrt1 |
T |
C |
2: 25,129,513 (GRCm39) |
|
probably benign |
Het |
| Dchs1 |
A |
T |
7: 105,407,414 (GRCm39) |
L2100H |
probably damaging |
Het |
| Ddb1 |
G |
A |
19: 10,589,028 (GRCm39) |
A229T |
possibly damaging |
Het |
| Dst |
A |
T |
1: 34,228,043 (GRCm39) |
I1554F |
probably damaging |
Het |
| Dvl3 |
C |
T |
16: 20,349,689 (GRCm39) |
P554L |
probably damaging |
Het |
| Fcgbp |
C |
A |
7: 27,774,511 (GRCm39) |
C28* |
probably null |
Het |
| Gm773 |
T |
C |
X: 55,247,373 (GRCm39) |
D53G |
probably benign |
Het |
| Hhat |
A |
G |
1: 192,399,325 (GRCm39) |
Y272H |
probably damaging |
Het |
| Inpp5k |
T |
C |
11: 75,536,351 (GRCm39) |
S310P |
probably benign |
Het |
| Kat2a |
G |
A |
11: 100,596,210 (GRCm39) |
R782W |
probably damaging |
Het |
| Kcnh5 |
T |
C |
12: 74,944,570 (GRCm39) |
D893G |
probably benign |
Het |
| Lama2 |
T |
C |
10: 27,119,738 (GRCm39) |
T709A |
probably benign |
Het |
| Mcm8 |
G |
A |
2: 132,669,457 (GRCm39) |
V281I |
probably benign |
Het |
| Men1 |
G |
A |
19: 6,387,237 (GRCm39) |
|
probably null |
Het |
| Nup133 |
T |
G |
8: 124,665,822 (GRCm39) |
D201A |
probably damaging |
Het |
| Oxct2a |
A |
G |
4: 123,217,183 (GRCm39) |
L66P |
possibly damaging |
Het |
| Pcbp2 |
C |
T |
15: 102,399,148 (GRCm39) |
A224V |
probably damaging |
Het |
| Phf8-ps |
T |
A |
17: 33,284,837 (GRCm39) |
H655L |
probably benign |
Het |
| Pla2g4e |
G |
A |
2: 120,015,719 (GRCm39) |
S275F |
probably benign |
Het |
| Pxk |
T |
C |
14: 8,130,754 (GRCm38) |
F118L |
probably damaging |
Het |
| Sp2 |
C |
T |
11: 96,845,387 (GRCm39) |
R578H |
probably damaging |
Het |
| Sphkap |
A |
G |
1: 83,255,631 (GRCm39) |
M706T |
possibly damaging |
Het |
| Tars3 |
T |
C |
7: 65,338,656 (GRCm39) |
M689T |
probably benign |
Het |
| Trrap |
T |
C |
5: 144,754,848 (GRCm39) |
V2008A |
probably damaging |
Het |
| Txnrd1 |
T |
G |
10: 82,711,496 (GRCm39) |
D42E |
probably damaging |
Het |
| Zswim8 |
G |
A |
14: 20,773,249 (GRCm39) |
D1746N |
probably damaging |
Het |
|
| Other mutations in Txndc2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00985:Txndc2
|
APN |
17 |
65,945,544 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
IGL01304:Txndc2
|
APN |
17 |
65,945,448 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
IGL01525:Txndc2
|
APN |
17 |
65,945,908 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
IGL02472:Txndc2
|
APN |
17 |
65,944,971 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
IGL02559:Txndc2
|
APN |
17 |
65,946,585 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
IGL02802:Txndc2
|
UTSW |
17 |
65,946,601 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R0508:Txndc2
|
UTSW |
17 |
65,944,948 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0737:Txndc2
|
UTSW |
17 |
65,946,548 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1525:Txndc2
|
UTSW |
17 |
65,945,310 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1569:Txndc2
|
UTSW |
17 |
65,945,921 (GRCm39) |
missense |
probably benign |
0.44 |
|
R1746:Txndc2
|
UTSW |
17 |
65,945,130 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4063:Txndc2
|
UTSW |
17 |
65,945,079 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R4971:Txndc2
|
UTSW |
17 |
65,945,849 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R4983:Txndc2
|
UTSW |
17 |
65,945,055 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6177:Txndc2
|
UTSW |
17 |
65,945,466 (GRCm39) |
missense |
probably benign |
0.44 |
|
R6762:Txndc2
|
UTSW |
17 |
65,945,967 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6915:Txndc2
|
UTSW |
17 |
65,945,286 (GRCm39) |
missense |
probably benign |
|
|
R7574:Txndc2
|
UTSW |
17 |
65,945,620 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R7775:Txndc2
|
UTSW |
17 |
65,945,238 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9294:Txndc2
|
UTSW |
17 |
65,946,019 (GRCm39) |
missense |
unknown |
|
|
R9359:Txndc2
|
UTSW |
17 |
65,944,992 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9403:Txndc2
|
UTSW |
17 |
65,944,992 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9669:Txndc2
|
UTSW |
17 |
65,945,583 (GRCm39) |
missense |
probably damaging |
0.96 |
|
| Posted On |
2012-04-20 |
Incidental Mutation