Incidental Mutation 'IGL03018:Tspyl1'
ID407951
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tspyl1
Ensembl Gene ENSMUSG00000047514
Gene Nametestis-specific protein, Y-encoded-like 1
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.098) question?
Stock #IGL03018
Quality Score
Status
Chromosome10
Chromosomal Location34282190-34285275 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 34283116 bp
ZygosityHeterozygous
Amino Acid Change Valine to Alanine at position 279 (V279A)
Ref Sequence ENSEMBL: ENSMUSP00000063051 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000061372]
Predicted Effect probably damaging
Transcript: ENSMUST00000061372
AA Change: V279A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000063051
Gene: ENSMUSG00000047514
AA Change: V279A

DomainStartEndE-ValueType
Pfam:NAP 170 353 3.5e-22 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is found in the nucleolus and is similar to that of a family of genes on the Y-chromosome. This gene is intronless. Defects in this gene are a cause of sudden infant death with dysgenesis of the testes syndrome (SIDDT). [provided by RefSeq, Dec 2009]
Allele List at MGI
Other mutations in this stock
Total: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb1a T A 5: 8,702,451 V474E probably damaging Het
Casc1 A G 6: 145,183,305 F394S probably damaging Het
Cpsf6 A T 10: 117,367,956 D30E probably benign Het
Edem1 T C 6: 108,829,142 F135L probably damaging Het
Elf3 C T 1: 135,256,065 E239K possibly damaging Het
Farp1 C T 14: 121,102,169 A53V probably benign Het
Gli3 T A 13: 15,660,132 L400Q probably damaging Het
Gm7257 A G 9: 36,433,427 T84A possibly damaging Het
Gtf2i T A 5: 134,289,335 I109F possibly damaging Het
Lat2 A T 5: 134,602,591 I191N probably damaging Het
Mtf1 G A 4: 124,838,663 A505T probably benign Het
Naa30 G T 14: 49,173,240 E208D probably benign Het
Nlrp5 T C 7: 23,417,747 Y299H probably benign Het
Npc1 T A 18: 12,214,379 N195Y probably damaging Het
Olfr1101 T G 2: 86,989,005 Y57S probably damaging Het
Olfr1182 T C 2: 88,446,819 N40D probably damaging Het
Olfr453 A G 6: 42,744,814 Y259C probably damaging Het
Olfr830 T C 9: 18,876,227 M300T probably benign Het
Olfr832 A T 9: 18,944,881 I78F probably damaging Het
Pcdh9 G A 14: 93,015,576 A1217V probably null Het
Pdhb C T 14: 8,171,537 probably benign Het
Pknox2 A G 9: 36,954,697 Y75H probably damaging Het
Ptprn2 T C 12: 117,211,943 S748P probably damaging Het
Ranbp6 A G 19: 29,811,389 V521A probably damaging Het
Samd7 A G 3: 30,762,145 K347E probably damaging Het
Selenom A G 11: 3,516,508 D63G probably damaging Het
Sema6d T C 2: 124,659,600 V487A possibly damaging Het
Tapt1 A T 5: 44,204,324 M109K probably damaging Het
Trib1 T C 15: 59,654,484 F301S probably damaging Het
Ubr2 C T 17: 46,954,046 V1184I possibly damaging Het
Urb1 T C 16: 90,788,156 I526V probably benign Het
Vtcn1 A G 3: 100,883,910 D88G probably damaging Het
Yod1 T G 1: 130,718,958 L191V probably benign Het
Other mutations in Tspyl1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01518:Tspyl1 APN 10 34283199 missense possibly damaging 0.55
IGL01575:Tspyl1 APN 10 34283090 missense probably damaging 1.00
R0131:Tspyl1 UTSW 10 34283089 missense probably damaging 1.00
R0131:Tspyl1 UTSW 10 34283089 missense probably damaging 1.00
R0132:Tspyl1 UTSW 10 34283089 missense probably damaging 1.00
R4985:Tspyl1 UTSW 10 34282338 missense probably benign 0.03
R5366:Tspyl1 UTSW 10 34282345 missense possibly damaging 0.88
R6752:Tspyl1 UTSW 10 34282587 missense probably benign
Posted On2016-08-02