Incidental Mutation 'IGL01518:Tspyl1'
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ID89375
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: 0.149) question?
Stock #IGL01518
Quality Score
Status
Chromosome10
Chromosomal Location34282190-34285275 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 34283199 bp
ZygosityHeterozygous
Amino Acid Change Serine to Threonine at position 307 (S307T)
Ref Sequence ENSEMBL: ENSMUSP00000063051 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000061372]
Predicted Effect possibly damaging
Transcript: ENSMUST00000061372
AA Change: S307T

PolyPhen 2 Score 0.548 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000063051
Gene: ENSMUSG00000047514
AA Change: S307T

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: 27 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930447F04Rik A C X: 66,304,054 V16G unknown Het
4933427I04Rik A T 4: 123,860,701 E136V probably benign Het
Aadac A G 3: 60,035,899 D75G probably damaging Het
Arfgap1 T A 2: 180,972,725 S125T probably benign Het
Atxn2 G T 5: 121,810,979 A813S probably damaging Het
Cadps C A 14: 12,522,352 S604I probably damaging Het
Ces1a G T 8: 93,045,098 P24T probably damaging Het
Col4a4 T A 1: 82,455,759 M1488L unknown Het
Fndc3c1 T C X: 106,431,423 N941S probably damaging Het
Fryl T C 5: 73,086,962 Y1172C possibly damaging Het
Gm1527 T C 3: 28,895,588 probably benign Het
Hsf2 T C 10: 57,512,134 L458P probably damaging Het
Il2 T C 3: 37,123,007 T127A possibly damaging Het
Inpp5e A G 2: 26,397,934 Y617H probably damaging Het
Isoc2b G A 7: 4,850,764 S137F probably damaging Het
Map2 C T 1: 66,425,331 P241S probably damaging Het
Mfsd6 C A 1: 52,709,322 R128L probably damaging Het
Mrnip A G 11: 50,197,635 T153A probably damaging Het
Olfr1269 A G 2: 90,118,971 F209S possibly damaging Het
Olfr26 A T 9: 38,855,799 M246L probably benign Het
Pi4ka T C 16: 17,280,735 N2022S probably benign Het
Scrt2 C A 2: 152,093,640 R238S probably damaging Het
St3gal6 T A 16: 58,484,775 D108V probably benign Het
Tmem132b C T 5: 125,778,791 T529M probably damaging Het
Trappc11 T C 8: 47,501,869 probably null Het
Ush2a A G 1: 188,399,785 S735G probably benign Het
Wnk2 T C 13: 49,068,192 M1186V possibly damaging Het
Other mutations in Tspyl1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01575:Tspyl1 APN 10 34283090 missense probably damaging 1.00
IGL03018:Tspyl1 APN 10 34283116 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 On2013-12-03