Incidental Mutation 'R6879:Txn2'
ID 536574
Institutional Source Beutler Lab
Gene Symbol Txn2
Ensembl Gene ENSMUSG00000005354
Gene Name thioredoxin 2
Synonyms Trx2, 2510006J11Rik
MMRRC Submission 044975-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6879 (G1)
Quality Score 225.009
Status Validated
Chromosome 15
Chromosomal Location 77799251-77813194 bp(-) (GRCm39)
Type of Mutation intron
DNA Base Change (assembly) G to A at 77803922 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Gene Model predicted gene model for transcript(s): [ENSMUST00000005487] [ENSMUST00000109747] [ENSMUST00000109748] [ENSMUST00000174529]
AlphaFold P97493
Predicted Effect probably benign
Transcript: ENSMUST00000005487
SMART Domains Protein: ENSMUSP00000005487
Gene: ENSMUSG00000005354

DomainStartEndE-ValueType
Pfam:Thioredoxin 61 164 7.8e-31 PFAM
Pfam:Thioredoxin_7 72 141 5.1e-9 PFAM
Pfam:Thioredoxin_2 74 161 2.4e-9 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000109747
SMART Domains Protein: ENSMUSP00000105369
Gene: ENSMUSG00000005354

DomainStartEndE-ValueType
Pfam:Thioredoxin 61 138 3.3e-21 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000109748
SMART Domains Protein: ENSMUSP00000105370
Gene: ENSMUSG00000005354

DomainStartEndE-ValueType
Pfam:Thioredoxin 61 164 2.6e-30 PFAM
Pfam:Thioredoxin_2 74 161 1.7e-8 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000173631
SMART Domains Protein: ENSMUSP00000134682
Gene: ENSMUSG00000005354

DomainStartEndE-ValueType
Pfam:Thioredoxin 25 128 8.1e-31 PFAM
Pfam:Thioredoxin_2 38 125 4.8e-9 PFAM
Predicted Effect unknown
Transcript: ENSMUST00000174529
AA Change: T98I
SMART Domains Protein: ENSMUSP00000133605
Gene: ENSMUSG00000005354
AA Change: T98I

DomainStartEndE-ValueType
Pfam:Thioredoxin 1 62 5.6e-19 PFAM
Pfam:Thioredoxin_7 3 80 1.5e-8 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.4%
  • 20x: 98.0%
Validation Efficiency 100% (42/42)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This nuclear gene encodes a mitochondrial member of the thioredoxin family, a group of small multifunctional redox-active proteins. The encoded protein may play important roles in the regulation of the mitochondrial membrane potential and in protection against oxidant-induced apoptosis. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for mutations that inactivate the gene exhibit exencephaly and embyronic lethality. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adat3 A G 10: 80,442,621 (GRCm39) D153G probably damaging Het
Agap1 A T 1: 89,694,177 (GRCm39) I492F probably benign Het
Arhgap31 G A 16: 38,422,676 (GRCm39) T1130I probably benign Het
Atg2a T A 19: 6,301,882 (GRCm39) C923S possibly damaging Het
B3gnt8 C A 7: 25,328,277 (GRCm39) Q236K probably benign Het
Bptf T G 11: 106,933,516 (GRCm39) I261L probably benign Het
Cacna1s T C 1: 136,043,697 (GRCm39) F1592S probably benign Het
Catspere2 A T 1: 177,926,338 (GRCm39) T335S possibly damaging Het
Cops7a A T 6: 124,935,748 (GRCm39) probably null Het
Defb10 A G 8: 22,351,898 (GRCm39) I48V probably benign Het
Gabrg3 A C 7: 57,031,387 (GRCm39) L51R probably damaging Het
Gins2 G A 8: 121,312,850 (GRCm39) T96M probably damaging Het
Gm11568 A G 11: 99,749,053 (GRCm39) Q86R unknown Het
Il33 T C 19: 29,936,362 (GRCm39) V224A probably damaging Het
Kcnh3 C A 15: 99,136,048 (GRCm39) Q682K probably damaging Het
Kif19a A G 11: 114,672,159 (GRCm39) I249V probably benign Het
Kif26a T C 12: 112,144,087 (GRCm39) V1447A probably benign Het
Klhdc10 T A 6: 30,449,589 (GRCm39) M217K probably damaging Het
Mcc T C 18: 44,945,179 (GRCm39) S18G unknown Het
Mical1 A T 10: 41,360,515 (GRCm39) Q651H probably damaging Het
Mpdz G A 4: 81,266,893 (GRCm39) T340I possibly damaging Het
Or5b95 T C 19: 12,658,135 (GRCm39) I221T probably benign Het
Or6c202 T G 10: 128,996,848 (GRCm39) K2Q probably benign Het
Pira12 A T 7: 3,899,961 (GRCm39) S214T probably benign Het
Plekha6 A T 1: 133,187,793 (GRCm39) M105L possibly damaging Het
Ppp4r4 T A 12: 103,518,179 (GRCm39) probably null Het
Samd12 T C 15: 53,521,826 (GRCm39) N128S probably benign Het
Six6 A G 12: 72,987,298 (GRCm39) K157E probably benign Het
Slc13a3 C A 2: 165,272,221 (GRCm39) G274V probably damaging Het
Slc25a54 T A 3: 109,020,150 (GRCm39) V388E possibly damaging Het
Smad2 A G 18: 76,395,725 (GRCm39) T55A possibly damaging Het
Sorbs1 G C 19: 40,365,244 (GRCm39) R180G probably benign Het
Spats2 T C 15: 99,071,293 (GRCm39) V39A probably damaging Het
Stk32b A G 5: 37,647,867 (GRCm39) I167T possibly damaging Het
Taf1b T A 12: 24,550,516 (GRCm39) C34S possibly damaging Het
Tex2 T C 11: 106,424,836 (GRCm39) E812G unknown Het
Tlcd2 T A 11: 75,360,514 (GRCm39) W186R probably damaging Het
Uggt2 T C 14: 119,239,271 (GRCm39) K1387R probably benign Het
Unc79 T A 12: 103,115,046 (GRCm39) probably null Het
Usp21 T C 1: 171,110,077 (GRCm39) D538G probably damaging Het
Zfp109 C T 7: 23,928,615 (GRCm39) E265K probably benign Het
Zfp263 A G 16: 3,567,719 (GRCm39) H390R probably damaging Het
Other mutations in Txn2
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0611:Txn2 UTSW 15 77,811,917 (GRCm39) missense probably damaging 1.00
R0919:Txn2 UTSW 15 77,811,949 (GRCm39) missense probably damaging 1.00
R2504:Txn2 UTSW 15 77,810,870 (GRCm39) intron probably benign
R3700:Txn2 UTSW 15 77,811,976 (GRCm39) missense possibly damaging 0.69
R4515:Txn2 UTSW 15 77,799,643 (GRCm39) splice site probably null
R5897:Txn2 UTSW 15 77,808,726 (GRCm39) missense probably benign 0.43
R7101:Txn2 UTSW 15 77,810,878 (GRCm39) missense unknown
R7215:Txn2 UTSW 15 77,811,886 (GRCm39) splice site probably null
R9215:Txn2 UTSW 15 77,803,965 (GRCm39) missense unknown
R9719:Txn2 UTSW 15 77,812,289 (GRCm39) unclassified probably benign
Predicted Primers PCR Primer
(F):5'- CATCCTTCCTGAAACTCTTGGG -3'
(R):5'- GAAAATAAGTGCCTCTCAAAGCTG -3'

Sequencing Primer
(F):5'- TCCTGAAACTCTTGGGTCATAG -3'
(R):5'- ACAACTTGAGGCCTTGGTTC -3'
Posted On 2018-10-18