Incidental Mutation 'IGL02152:Txndc12'
ID282050
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Txndc12
Ensembl Gene ENSMUSG00000028567
Gene Namethioredoxin domain containing 12 (endoplasmic reticulum)
SynonymsERp16, 0610040B21Rik
Accession Numbers
Is this an essential gene? Not available question?
Stock #IGL02152
Quality Score
Status
Chromosome4
Chromosomal Location108834601-108862127 bp(+) (GRCm38)
Type of Mutationnonsense
DNA Base Change (assembly) T to A at 108834792 bp
ZygosityHeterozygous
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]
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
1700016K19Rik A G 11: 76,003,225 I143V probably benign Het
1700028K03Rik A G 5: 107,548,117 T140A probably benign Het
4933430I17Rik T C 4: 62,542,754 Y289H possibly damaging Het
Adamts17 T A 7: 67,125,000 S956T probably benign Het
Adamts6 A T 13: 104,313,660 S290C probably null Het
Apaf1 A T 10: 91,061,819 H267Q probably benign Het
Aplp2 G A 9: 31,211,651 P26L unknown Het
Arid1b C T 17: 5,313,968 S1019F probably damaging Het
Armc3 G A 2: 19,286,137 probably null Het
Ass1 T C 2: 31,492,324 I169T probably damaging Het
Ccser1 A G 6: 61,311,708 D285G possibly damaging Het
Cenpf A G 1: 189,649,012 V2737A probably benign Het
Chrm5 A G 2: 112,480,568 Y68H probably damaging Het
Cops4 A G 5: 100,533,590 T164A probably benign Het
Cox4i1 A G 8: 120,672,865 S72G probably benign Het
Cpox A G 16: 58,674,424 T275A possibly damaging Het
Cyb5a T C 18: 84,873,156 I68T probably benign Het
Efna5 T C 17: 62,651,060 D67G probably benign Het
Enpp3 T C 10: 24,774,002 E842G probably damaging Het
Fam208b C T 13: 3,585,371 E479K probably benign Het
Fam210b A G 2: 172,351,503 K79E probably benign Het
Gm17359 T C 3: 79,345,532 I18T possibly damaging Het
Gm4799 T C 10: 82,954,755 noncoding transcript Het
Gpr146 A T 5: 139,392,712 R90W probably damaging Het
Hal A G 10: 93,503,542 I498V possibly damaging Het
Hist1h2af A G 13: 23,534,281 H124R probably benign Het
Hnrnpm C T 17: 33,658,412 G365R probably damaging Het
Jakmip3 A G 7: 139,025,488 D407G probably damaging Het
Kank1 A G 19: 25,428,172 I1185V possibly damaging Het
Kcnj16 A T 11: 111,025,210 M233L probably benign Het
Klhl5 A T 5: 65,148,800 Q370L probably damaging Het
L3hypdh C T 12: 72,077,143 probably null Het
Las1l A G X: 95,953,302 V130A probably damaging Het
Lrp2bp A T 8: 46,023,044 Y274F probably damaging Het
Morc2b T A 17: 33,137,943 K285M probably damaging Het
Mpp3 A T 11: 102,025,390 Y45* probably null Het
Muc4 T A 16: 32,777,649 probably benign Het
Muc5ac T C 7: 141,800,177 C837R possibly damaging Het
Mum1 A G 10: 80,239,978 D466G probably damaging Het
Nr2f6 T A 8: 71,376,166 I155F probably damaging Het
Nsg1 A G 5: 38,144,801 F50L probably benign Het
Olfr304 T A 7: 86,386,043 M206L probably benign Het
Ostf1 C A 19: 18,590,458 G101C probably damaging Het
Pam C T 1: 97,840,749 R552Q probably damaging Het
Pkd1l3 A G 8: 109,669,292 N2108S probably damaging Het
Prkdc A T 16: 15,669,285 H484L probably benign Het
Rfx5 G A 3: 94,957,182 R213Q probably damaging Het
Ryr1 T C 7: 29,052,015 S3715G possibly damaging Het
Sall2 A G 14: 52,315,514 S73P probably damaging Het
Sec22c G A 9: 121,684,779 A264V probably benign Het
Sis A C 3: 72,888,986 probably benign Het
Spam1 T A 6: 24,800,803 probably benign Het
St13 T A 15: 81,366,382 I318F probably damaging Het
Syne1 T C 10: 5,424,382 I142V probably damaging Het
Trpm6 A T 19: 18,832,539 T1100S possibly damaging Het
Ttll6 G A 11: 96,135,540 W90* probably null Het
Ubr7 C T 12: 102,768,276 Q270* probably null Het
Vps33b A G 7: 80,285,069 S302G probably benign Het
Xylt1 T A 7: 117,634,770 V508E probably damaging Het
Zbtb26 A T 2: 37,436,691 L111Q possibly damaging Het
Zfp410 T C 12: 84,332,928 probably benign Het
Zscan18 A T 7: 12,775,296 probably benign Het
Other mutations in Txndc12
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02933:Txndc12 APN 4 108857996 critical splice donor site probably null
R1943:Txndc12 UTSW 4 108856210 missense probably benign 0.01
R7437:Txndc12 UTSW 4 108856171 missense probably damaging 1.00
R7458:Txndc12 UTSW 4 108861409 missense probably benign
Posted On2015-04-16