Incidental Mutation 'IGL01518:Tspyl1'
ID 89375
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tspyl1
Ensembl Gene ENSMUSG00000047514
Gene Name testis-specific protein, Y-encoded-like 1
Synonyms
Accession Numbers
Essential gene? Probably non essential (E-score: 0.110) question?
Stock # IGL01518
Quality Score
Status
Chromosome 10
Chromosomal Location 34158186-34160881 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 34159195 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Threonine at position 307 (S307T)
Ref Sequence ENSEMBL: ENSMUSP00000063051 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000061372]
AlphaFold O88852
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: 65,347,660 (GRCm39) V16G unknown Het
4933427I04Rik A T 4: 123,754,494 (GRCm39) E136V probably benign Het
Aadac A G 3: 59,943,320 (GRCm39) D75G probably damaging Het
Arfgap1 T A 2: 180,614,518 (GRCm39) S125T probably benign Het
Atxn2 G T 5: 121,949,042 (GRCm39) A813S probably damaging Het
Cadps C A 14: 12,522,352 (GRCm38) S604I probably damaging Het
Ces1a G T 8: 93,771,726 (GRCm39) P24T probably damaging Het
Col4a4 T A 1: 82,433,480 (GRCm39) M1488L unknown Het
Fndc3c1 T C X: 105,475,029 (GRCm39) N941S probably damaging Het
Fryl T C 5: 73,244,305 (GRCm39) Y1172C possibly damaging Het
Gm1527 T C 3: 28,949,737 (GRCm39) probably benign Het
Hsf2 T C 10: 57,388,230 (GRCm39) L458P probably damaging Het
Il2 T C 3: 37,177,156 (GRCm39) T127A possibly damaging Het
Inpp5e A G 2: 26,287,946 (GRCm39) Y617H probably damaging Het
Isoc2b G A 7: 4,853,763 (GRCm39) S137F probably damaging Het
Map2 C T 1: 66,464,490 (GRCm39) P241S probably damaging Het
Mfsd6 C A 1: 52,748,481 (GRCm39) R128L probably damaging Het
Mrnip A G 11: 50,088,462 (GRCm39) T153A probably damaging Het
Or4x6 A G 2: 89,949,315 (GRCm39) F209S possibly damaging Het
Or8d1 A T 9: 38,767,095 (GRCm39) M246L probably benign Het
Pi4ka T C 16: 17,098,599 (GRCm39) N2022S probably benign Het
Scrt2 C A 2: 151,935,560 (GRCm39) R238S probably damaging Het
St3gal6 T A 16: 58,305,138 (GRCm39) D108V probably benign Het
Tmem132b C T 5: 125,855,855 (GRCm39) T529M probably damaging Het
Trappc11 T C 8: 47,954,904 (GRCm39) probably null Het
Ush2a A G 1: 188,131,982 (GRCm39) S735G probably benign Het
Wnk2 T C 13: 49,221,668 (GRCm39) M1186V possibly damaging Het
Other mutations in Tspyl1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01575:Tspyl1 APN 10 34,159,086 (GRCm39) missense probably damaging 1.00
IGL03018:Tspyl1 APN 10 34,159,112 (GRCm39) missense probably damaging 1.00
R0131:Tspyl1 UTSW 10 34,159,085 (GRCm39) missense probably damaging 1.00
R0131:Tspyl1 UTSW 10 34,159,085 (GRCm39) missense probably damaging 1.00
R0132:Tspyl1 UTSW 10 34,159,085 (GRCm39) missense probably damaging 1.00
R4985:Tspyl1 UTSW 10 34,158,334 (GRCm39) missense probably benign 0.03
R5366:Tspyl1 UTSW 10 34,158,341 (GRCm39) missense possibly damaging 0.88
R6752:Tspyl1 UTSW 10 34,158,583 (GRCm39) missense probably benign
R8882:Tspyl1 UTSW 10 34,158,494 (GRCm39) missense possibly damaging 0.49
R9644:Tspyl1 UTSW 10 34,159,135 (GRCm39) missense possibly damaging 0.54
Posted On 2013-12-03