Incidental Mutation 'R4063:Txndc2'
ID 315990
Institutional Source Beutler Lab
Gene Symbol Txndc2
Ensembl Gene ENSMUSG00000050612
Gene Name thioredoxin domain containing 2 (spermatozoa)
Synonyms Sptrx-1
MMRRC Submission 041619-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.216) question?
Stock # R4063 (G1)
Quality Score 225
Status Validated
Chromosome 17
Chromosomal Location 65944502-65949163 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 65945079 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 366 (I366T)
Ref Sequence ENSEMBL: ENSMUSP00000054909 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000050236]
AlphaFold no structure available at present
Predicted Effect possibly damaging
Transcript: ENSMUST00000050236
AA Change: I366T

PolyPhen 2 Score 0.861 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000054909
Gene: ENSMUSG00000050612
AA Change: I366T

DomainStartEndE-ValueType
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
Meta Mutation Damage Score 0.1034 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.9%
Validation Efficiency 97% (59/61)
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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700034J05Rik A T 6: 146,854,606 (GRCm39) F145L probably benign Het
Abcc9 T C 6: 142,551,645 (GRCm39) D1221G possibly damaging Het
Adamtsl4 T C 3: 95,584,864 (GRCm39) K935E probably benign Het
Ago4 A T 4: 126,409,655 (GRCm39) probably benign Het
Arhgef28 T C 13: 98,130,575 (GRCm39) D421G probably benign Het
Armh4 T A 14: 50,011,444 (GRCm39) M88L probably benign Het
Atl2 T C 17: 80,157,588 (GRCm39) *413W probably null Het
B4galt7 C A 13: 55,756,152 (GRCm39) probably null Het
Bltp3b A G 10: 89,651,917 (GRCm39) N247S probably benign Het
C8g A T 2: 25,389,425 (GRCm39) S147T probably damaging Het
Clstn3 A T 6: 124,426,792 (GRCm39) Y510N possibly damaging Het
Cnot2 A G 10: 116,373,301 (GRCm39) V34A possibly damaging Het
Cyb5d2 A T 11: 72,686,606 (GRCm39) probably benign Het
Dnah5 T C 15: 28,421,144 (GRCm39) I3827T probably damaging Het
Dnah7a G T 1: 53,464,376 (GRCm39) Q3672K probably benign Het
Dock1 A T 7: 134,717,021 (GRCm39) Y1219F possibly damaging Het
Espl1 A G 15: 102,221,424 (GRCm39) I944V probably damaging Het
Fat1 A T 8: 45,478,518 (GRCm39) E2521D probably benign Het
Gm10719 G T 9: 3,019,043 (GRCm39) W96L probably damaging Het
H2-M2 G A 17: 37,792,399 (GRCm39) H291Y probably damaging Het
Hmgcl T C 4: 135,686,035 (GRCm39) Y167H probably damaging Het
Il22ra2 A T 10: 19,502,400 (GRCm39) D73V possibly damaging Het
Incenp A T 19: 9,861,142 (GRCm39) M480K unknown Het
Irag1 G T 7: 110,522,984 (GRCm39) A359D probably benign Het
Kdm6a A G X: 18,117,114 (GRCm39) T266A probably benign Het
Lipf A G 19: 33,942,965 (GRCm39) N91S probably benign Het
M1ap A T 6: 82,980,756 (GRCm39) N214I probably damaging Het
Mast3 A G 8: 71,233,838 (GRCm39) V969A probably damaging Het
Mdga1 A G 17: 30,057,005 (GRCm39) C826R probably damaging Het
Msx1 C A 5: 37,981,365 (GRCm39) A105S probably benign Het
Or5ac23 A C 16: 59,149,243 (GRCm39) S210A probably benign Het
Otogl A T 10: 107,626,510 (GRCm39) D1451E probably benign Het
Otop2 G A 11: 115,220,201 (GRCm39) G347D probably damaging Het
Ppp1r13l A T 7: 19,103,978 (GRCm39) H153L probably benign Het
Pramel21 A G 4: 143,342,559 (GRCm39) D222G possibly damaging Het
Pramel29 T C 4: 143,935,265 (GRCm39) K161E possibly damaging Het
Proz A G 8: 13,114,621 (GRCm39) Y85C probably damaging Het
Prss50 A G 9: 110,687,480 (GRCm39) D141G probably benign Het
Rad54l2 T A 9: 106,597,613 (GRCm39) Q131L probably benign Het
Sdha A G 13: 74,472,077 (GRCm39) probably benign Het
Sema3d T A 5: 12,635,091 (GRCm39) I719N probably benign Het
Slc18b1 A T 10: 23,681,879 (GRCm39) I148L probably benign Het
Tacc2 G T 7: 130,330,852 (GRCm39) D2086Y probably damaging Het
Tchh T C 3: 93,354,298 (GRCm39) L1246P unknown Het
Tmprss11d T C 5: 86,457,177 (GRCm39) I161V probably benign Het
Trpc3 T C 3: 36,725,172 (GRCm39) D268G probably damaging Het
Trpm8 G A 1: 88,289,727 (GRCm39) R895H probably damaging Het
Ugt2a3 T C 5: 87,484,725 (GRCm39) I100V probably benign Het
Upp1 C A 11: 9,081,709 (GRCm39) P82Q probably damaging Het
Vim A G 2: 13,584,827 (GRCm39) probably null Het
Vmn2r12 A T 5: 109,240,058 (GRCm39) N168K possibly damaging Het
Zdhhc14 G T 17: 5,802,983 (GRCm39) C362F probably damaging Het
Zfp292 A G 4: 34,810,863 (GRCm39) V727A probably damaging Het
Zswim5 G A 4: 116,735,177 (GRCm39) G174D unknown Het
Other mutations in Txndc2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00470:Txndc2 APN 17 65,945,569 (GRCm39) missense probably benign 0.41
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
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
Predicted Primers PCR Primer
(F):5'- TCCAAGGCCTAAGAGTTTGC -3'
(R):5'- AGACAGCGTCCAATCCAAGG -3'

Sequencing Primer
(F):5'- GAGAGCTGCACATCTTCTTCTG -3'
(R):5'- TCCAATCCAAGGAAGGTGAAGTCC -3'
Posted On 2015-05-15