Incidental Mutation 'IGL02933:Txndc12'
ID 364200
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Txndc12
Ensembl Gene ENSMUSG00000028567
Gene Name thioredoxin domain containing 12 (endoplasmic reticulum)
Synonyms 0610040B21Rik, ERp16
Accession Numbers
Essential gene? Probably non essential (E-score: 0.239) question?
Stock # IGL02933
Quality Score
Status
Chromosome 4
Chromosomal Location 108691875-108719317 bp(+) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) T to C at 108715193 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000030296 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030296]
AlphaFold Q9CQU0
Predicted Effect probably null
Transcript: ENSMUST00000030296
SMART Domains Protein: ENSMUSP00000030296
Gene: ENSMUSG00000028567

DomainStartEndE-ValueType
low complexity region 10 18 N/A INTRINSIC
Pfam:Thioredoxin_7 37 118 1.1e-19 PFAM
Pfam:Thioredoxin 41 135 1.9e-7 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154017
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the thioredoxin superfamily. Members of this family are characterized by a conserved active motif called the thioredoxin fold that catalyzes disulfide bond formation and isomerization. This protein localizes to the endoplasmic reticulum and has a single atypical active motif. The encoded protein is mainly involved in catalyzing native disulfide bond formation and displays activity similar to protein-disulfide isomerases. This protein may play a role in defense against endoplasmic reticulum stress. Alternate splicing results in both coding and non-coding variants. [provided by RefSeq, Mar 2012]
PHENOTYPE: Phenotypic analysis of mice homozygous for a gene trap allele indicates this mutation has no notable phenotype in any parameter tested. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700008O03Rik G T 7: 44,012,436 (GRCm39) S24Y possibly damaging Het
Adam15 T C 3: 89,250,790 (GRCm39) T609A possibly damaging Het
Ank1 C T 8: 23,612,881 (GRCm39) T1485I possibly damaging Het
Bbof1 A G 12: 84,473,740 (GRCm39) N357D probably damaging Het
Btn1a1 A G 13: 23,644,697 (GRCm39) F267S possibly damaging Het
C2cd2 A T 16: 97,693,401 (GRCm39) F157I probably benign Het
Cd55 T C 1: 130,380,261 (GRCm39) E239G probably damaging Het
Cnpy1 T A 5: 28,412,119 (GRCm39) H138L probably benign Het
Cpne4 T C 9: 104,896,966 (GRCm39) V373A possibly damaging Het
Dlg5 A T 14: 24,208,567 (GRCm39) S880T probably benign Het
Etv1 C T 12: 38,831,832 (GRCm39) T27I probably benign Het
Fam227b T A 2: 125,965,908 (GRCm39) probably null Het
Flcn T C 11: 59,694,583 (GRCm39) S130G probably damaging Het
Flvcr2 T C 12: 85,849,902 (GRCm39) probably benign Het
Git1 C A 11: 77,391,902 (GRCm39) H241Q probably damaging Het
Gm14496 T A 2: 181,642,256 (GRCm39) H642Q probably benign Het
Idh1 C T 1: 65,201,072 (GRCm39) S293N probably damaging Het
Itpr2 A G 6: 146,214,402 (GRCm39) S1449P probably benign Het
Mmel1 T A 4: 154,968,087 (GRCm39) L141Q probably damaging Het
Morn4 A G 19: 42,064,661 (GRCm39) I109T probably benign Het
Mrgprh T C 17: 13,096,596 (GRCm39) Y279H probably damaging Het
Or1ak2 T A 2: 36,827,310 (GRCm39) Y60N probably damaging Het
Osbpl8 T C 10: 111,117,991 (GRCm39) I578T probably damaging Het
Reg2 A G 6: 78,384,917 (GRCm39) Y153C probably damaging Het
Sall2 T C 14: 52,550,484 (GRCm39) S902G probably benign Het
Sesn3 C T 9: 14,232,504 (GRCm39) T259M probably damaging Het
Traf1 C A 2: 34,839,107 (GRCm39) D73Y possibly damaging Het
Trnt1 G A 6: 106,750,387 (GRCm39) G97D probably benign Het
Ttll11 T C 2: 35,869,422 (GRCm39) H72R probably benign Het
Zan C A 5: 137,426,676 (GRCm39) S2490I unknown Het
Zfp955a T C 17: 33,462,683 (GRCm39) probably null Het
Zfyve26 A C 12: 79,326,854 (GRCm39) S756R possibly damaging Het
Zmynd8 T C 2: 165,670,238 (GRCm39) N412S possibly damaging Het
Other mutations in Txndc12
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02152:Txndc12 APN 4 108,691,989 (GRCm39) nonsense probably null
R1943:Txndc12 UTSW 4 108,713,407 (GRCm39) missense probably benign 0.01
R7437:Txndc12 UTSW 4 108,713,368 (GRCm39) missense probably damaging 1.00
R7458:Txndc12 UTSW 4 108,718,606 (GRCm39) missense probably benign
R8157:Txndc12 UTSW 4 108,710,419 (GRCm39) critical splice donor site probably null
R8394:Txndc12 UTSW 4 108,713,420 (GRCm39) critical splice donor site probably null
Posted On 2015-12-18