Incidental Mutation 'IGL02152:Txndc12'
ID 282050
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 # IGL02152
Quality Score
Status
Chromosome 4
Chromosomal Location 108691875-108719317 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) T to A at 108691989 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Stop codon at position 9 (C9*)
Ref Sequence ENSEMBL: ENSMUSP00000030296 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030296] [ENSMUST00000102739] [ENSMUST00000102740] [ENSMUST00000102741] [ENSMUST00000102742]
AlphaFold Q9CQU0
Predicted Effect probably null
Transcript: ENSMUST00000030296
AA Change: C9*
SMART Domains Protein: ENSMUSP00000030296
Gene: ENSMUSG00000028567
AA Change: C9*

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 probably benign
Transcript: ENSMUST00000102739
SMART Domains Protein: ENSMUSP00000099800
Gene: ENSMUSG00000028568

DomainStartEndE-ValueType
Pfam:NAC 36 93 3.7e-25 PFAM
low complexity region 132 147 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000102740
SMART Domains Protein: ENSMUSP00000099801
Gene: ENSMUSG00000028568

DomainStartEndE-ValueType
Pfam:NAC 36 93 3.7e-25 PFAM
low complexity region 132 147 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000102741
SMART Domains Protein: ENSMUSP00000099802
Gene: ENSMUSG00000028568

DomainStartEndE-ValueType
Pfam:NAC 36 93 3.7e-25 PFAM
low complexity region 132 147 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000102742
SMART Domains Protein: ENSMUSP00000099803
Gene: ENSMUSG00000028568

DomainStartEndE-ValueType
Pfam:NAC 36 92 2.5e-28 PFAM
low complexity region 132 147 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139464
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147581
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: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700028K03Rik A G 5: 107,695,983 (GRCm39) T140A probably benign Het
4933430I17Rik T C 4: 62,460,991 (GRCm39) Y289H possibly damaging Het
Adamts17 T A 7: 66,774,748 (GRCm39) S956T probably benign Het
Adamts6 A T 13: 104,450,168 (GRCm39) S290C probably null Het
Apaf1 A T 10: 90,897,681 (GRCm39) H267Q probably benign Het
Aplp2 G A 9: 31,122,947 (GRCm39) P26L unknown Het
Arid1b C T 17: 5,364,243 (GRCm39) S1019F probably damaging Het
Armc3 G A 2: 19,290,948 (GRCm39) probably null Het
Ass1 T C 2: 31,382,336 (GRCm39) I169T probably damaging Het
Ccser1 A G 6: 61,288,692 (GRCm39) D285G possibly damaging Het
Cenpf A G 1: 189,381,209 (GRCm39) V2737A probably benign Het
Chrm5 A G 2: 112,310,913 (GRCm39) Y68H probably damaging Het
Cops4 A G 5: 100,681,456 (GRCm39) T164A probably benign Het
Cox4i1 A G 8: 121,399,604 (GRCm39) S72G probably benign Het
Cpox A G 16: 58,494,787 (GRCm39) T275A possibly damaging Het
Cyb5a T C 18: 84,891,281 (GRCm39) I68T probably benign Het
Efna5 T C 17: 62,958,055 (GRCm39) D67G probably benign Het
Enpp3 T C 10: 24,649,900 (GRCm39) E842G probably damaging Het
Fam210b A G 2: 172,193,423 (GRCm39) K79E probably benign Het
Gm4799 T C 10: 82,790,589 (GRCm39) noncoding transcript Het
Gpr146 A T 5: 139,378,467 (GRCm39) R90W probably damaging Het
H2ac10 A G 13: 23,718,451 (GRCm39) H124R probably benign Het
Hal A G 10: 93,339,404 (GRCm39) I498V possibly damaging Het
Hnrnpm C T 17: 33,877,386 (GRCm39) G365R probably damaging Het
Jakmip3 A G 7: 138,627,217 (GRCm39) D407G probably damaging Het
Kank1 A G 19: 25,405,536 (GRCm39) I1185V possibly damaging Het
Kcnj16 A T 11: 110,916,036 (GRCm39) M233L probably benign Het
Klhl5 A T 5: 65,306,143 (GRCm39) Q370L probably damaging Het
L3hypdh C T 12: 72,123,917 (GRCm39) probably null Het
Las1l A G X: 94,996,908 (GRCm39) V130A probably damaging Het
Liat1 A G 11: 75,894,051 (GRCm39) I143V probably benign Het
Lrp2bp A T 8: 46,476,081 (GRCm39) Y274F probably damaging Het
Morc2b T A 17: 33,356,917 (GRCm39) K285M probably damaging Het
Mpp3 A T 11: 101,916,216 (GRCm39) Y45* probably null Het
Muc4 T A 16: 32,598,023 (GRCm39) probably benign Het
Muc5ac T C 7: 141,353,914 (GRCm39) C837R possibly damaging Het
Nr2f6 T A 8: 71,828,810 (GRCm39) I155F probably damaging Het
Nsg1 A G 5: 38,302,145 (GRCm39) F50L probably benign Het
Or14a258 T A 7: 86,035,251 (GRCm39) M206L probably benign Het
Ostf1 C A 19: 18,567,822 (GRCm39) G101C probably damaging Het
Pam C T 1: 97,768,474 (GRCm39) R552Q probably damaging Het
Pkd1l3 A G 8: 110,395,924 (GRCm39) N2108S probably damaging Het
Prkdc A T 16: 15,487,149 (GRCm39) H484L probably benign Het
Pwwp3a A G 10: 80,075,812 (GRCm39) D466G probably damaging Het
Rfx5 G A 3: 94,864,493 (GRCm39) R213Q probably damaging Het
Ryr1 T C 7: 28,751,440 (GRCm39) S3715G possibly damaging Het
Sall2 A G 14: 52,552,971 (GRCm39) S73P probably damaging Het
Sec22c G A 9: 121,513,845 (GRCm39) A264V probably benign Het
Sis A C 3: 72,796,319 (GRCm39) probably benign Het
Spam1 T A 6: 24,800,802 (GRCm39) probably benign Het
Spmip2 T C 3: 79,252,839 (GRCm39) I18T possibly damaging Het
St13 T A 15: 81,250,583 (GRCm39) I318F probably damaging Het
Syne1 T C 10: 5,374,382 (GRCm39) I142V probably damaging Het
Tasor2 C T 13: 3,635,371 (GRCm39) E479K probably benign Het
Trpm6 A T 19: 18,809,903 (GRCm39) T1100S possibly damaging Het
Ttll6 G A 11: 96,026,366 (GRCm39) W90* probably null Het
Ubr7 C T 12: 102,734,535 (GRCm39) Q270* probably null Het
Vps33b A G 7: 79,934,817 (GRCm39) S302G probably benign Het
Xylt1 T A 7: 117,233,997 (GRCm39) V508E probably damaging Het
Zbtb26 A T 2: 37,326,703 (GRCm39) L111Q possibly damaging Het
Zfp410 T C 12: 84,379,702 (GRCm39) probably benign Het
Zscan18 A T 7: 12,509,223 (GRCm39) probably benign Het
Other mutations in Txndc12
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02933:Txndc12 APN 4 108,715,193 (GRCm39) critical splice donor site 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 2015-04-16