Incidental Mutation 'IGL01525:Txndc2'
ID89526
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Txndc2
Ensembl Gene ENSMUSG00000050612
Gene Namethioredoxin domain containing 2 (spermatozoa)
SynonymsSptrx-1
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.158) question?
Stock #IGL01525
Quality Score
Status
Chromosome17
Chromosomal Location65637505-65642204 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 65638913 bp
ZygosityHeterozygous
Amino Acid Change Serine to Proline at position 90 (S90P)
Ref Sequence ENSEMBL: ENSMUSP00000054909 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000050236]
Predicted Effect possibly damaging
Transcript: ENSMUST00000050236
AA Change: S90P

PolyPhen 2 Score 0.838 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000054909
Gene: ENSMUSG00000050612
AA Change: S90P

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
Coding Region Coverage
Validation Efficiency
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: 28 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrb1 A G 15: 74,586,835 E322G probably damaging Het
Aldh8a1 A T 10: 21,391,573 I286F probably damaging Het
Arnt2 T A 7: 84,275,408 T404S possibly damaging Het
Asb1 A G 1: 91,552,124 T190A probably damaging Het
Atp8b1 G A 18: 64,539,252 R1014* probably null Het
Dgcr8 T C 16: 18,283,944 D158G probably damaging Het
Dock5 A G 14: 67,805,720 probably benign Het
Fras1 C T 5: 96,739,336 T2659I probably damaging Het
Galt A G 4: 41,756,068 T45A probably benign Het
Gtpbp3 A G 8: 71,490,434 D164G probably damaging Het
Kmt2c T A 5: 25,329,441 probably benign Het
Lrrc59 A T 11: 94,634,696 Q106L probably damaging Het
Mgat4c A G 10: 102,378,196 I13M probably damaging Het
Muc19 T A 15: 91,886,683 noncoding transcript Het
Myo5b C T 18: 74,740,549 A1508V probably damaging Het
Olfr1167 T C 2: 88,149,877 I47M probably benign Het
Olfr1394 A G 11: 49,160,674 Y220C probably damaging Het
Olfr600 T A 7: 103,346,179 I250F probably benign Het
Plxna2 A G 1: 194,712,311 E500G probably benign Het
Psme4 T A 11: 30,809,936 probably benign Het
S100a8 A T 3: 90,669,569 S10C probably damaging Het
Sdk1 T C 5: 141,999,920 V769A probably damaging Het
Sorbs1 G T 19: 40,349,978 T326K probably damaging Het
Spata31d1b T C 13: 59,712,466 I51T probably benign Het
Thumpd3 T C 6: 113,047,636 S64P probably damaging Het
Ticrr T C 7: 79,682,449 L843P probably damaging Het
Ttc30b A T 2: 75,936,882 M509K probably damaging Het
Ttn A T 2: 76,810,764 I13587N probably damaging Het
Other mutations in Txndc2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00470:Txndc2 APN 17 65638574 missense probably benign 0.41
IGL00985:Txndc2 APN 17 65638549 missense possibly damaging 0.95
IGL01304:Txndc2 APN 17 65638453 missense possibly damaging 0.79
IGL02472:Txndc2 APN 17 65637976 missense possibly damaging 0.86
IGL02559:Txndc2 APN 17 65639590 missense possibly damaging 0.91
IGL02802:Txndc2 UTSW 17 65639606 missense possibly damaging 0.93
R0508:Txndc2 UTSW 17 65637953 missense probably benign 0.01
R0737:Txndc2 UTSW 17 65639553 critical splice donor site probably null
R1525:Txndc2 UTSW 17 65638315 missense probably damaging 1.00
R1569:Txndc2 UTSW 17 65638926 missense probably benign 0.44
R1746:Txndc2 UTSW 17 65638135 missense probably damaging 1.00
R4063:Txndc2 UTSW 17 65638084 missense possibly damaging 0.86
R4971:Txndc2 UTSW 17 65638854 missense probably damaging 0.96
R4983:Txndc2 UTSW 17 65638060 missense probably benign 0.01
R6177:Txndc2 UTSW 17 65638471 missense probably benign 0.44
R6762:Txndc2 UTSW 17 65638972 missense probably damaging 0.99
R6915:Txndc2 UTSW 17 65638291 missense probably benign
R7574:Txndc2 UTSW 17 65638625 missense possibly damaging 0.86
R7775:Txndc2 UTSW 17 65638243 missense probably benign 0.01
Posted On2013-12-03