Incidental Mutation 'IGL00697:Tspyl2'
ID 14620
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tspyl2
Ensembl Gene ENSMUSG00000041096
Gene Name TSPY-like 2
Synonyms CINAP, E130307F10Rik, DENTT, DXBwg1396e, DXHXS1008E
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL00697
Quality Score
Status
Chromosome X
Chromosomal Location 151119848-151125421 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 151122710 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 379 (D379G)
Ref Sequence ENSEMBL: ENSMUSP00000046782 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000044509] [ENSMUST00000070316]
AlphaFold Q7TQI8
Predicted Effect probably damaging
Transcript: ENSMUST00000044509
AA Change: D379G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000046782
Gene: ENSMUSG00000041096
AA Change: D379G

DomainStartEndE-ValueType
low complexity region 20 48 N/A INTRINSIC
low complexity region 161 176 N/A INTRINSIC
low complexity region 179 201 N/A INTRINSIC
Pfam:NAP 207 416 1.9e-22 PFAM
low complexity region 425 447 N/A INTRINSIC
internal_repeat_1 463 493 5.34e-5 PROSPERO
internal_repeat_1 502 534 5.34e-5 PROSPERO
low complexity region 541 581 N/A INTRINSIC
coiled coil region 605 632 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000070316
SMART Domains Protein: ENSMUSP00000065533
Gene: ENSMUSG00000056679

DomainStartEndE-ValueType
Pfam:7tm_4 29 207 5.7e-9 PFAM
Pfam:7tm_1 39 340 3.1e-31 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138918
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149685
Predicted Effect noncoding transcript
Transcript: ENSMUST00000177748
Predicted Effect probably benign
Transcript: ENSMUST00000178165
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the testis-specific protein Y-encoded, TSPY-like/SET/nucleosome assembly protein-1 superfamily. The encoded protein is localized to the nucleolus where it functions in chromatin remodeling and as an inhibitor of cell-cycle progression. This protein may play a role in the suppression of tumor growth. [provided by RefSeq, Sep 2009]
PHENOTYPE: Mice homozygous or hemizygous for a targeted allele are viable, fertile and do not exhibit increased tumor incidence; however, mutant mouse embryonic fibroblasts are impaired in cell cycle arrest following DNA damage induced by ionizing radiation. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 12 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aknad1 T A 3: 108,682,324 (GRCm39) D495E probably damaging Het
Brpf1 T A 6: 113,291,947 (GRCm39) L331Q probably damaging Het
Coq10b T A 1: 55,100,424 (GRCm39) probably null Het
Diaph2 C T X: 129,361,689 (GRCm39) probably benign Het
Dsg3 T C 18: 20,657,746 (GRCm39) probably null Het
Iars1 T A 13: 49,863,204 (GRCm39) F552Y probably damaging Het
Katnip G A 7: 125,394,622 (GRCm39) V233M possibly damaging Het
Mfsd14b C T 13: 65,214,515 (GRCm39) S479N probably benign Het
Nsmaf A G 4: 6,417,163 (GRCm39) probably null Het
Pdzd2 T C 15: 12,373,733 (GRCm39) Y2134C possibly damaging Het
Srpk2 C T 5: 23,745,377 (GRCm39) R95Q probably benign Het
Svs3a A T 2: 164,131,732 (GRCm39) E100V probably damaging Het
Other mutations in Tspyl2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02087:Tspyl2 APN X 151,122,103 (GRCm39) missense probably damaging 0.99
R2145:Tspyl2 UTSW X 151,121,890 (GRCm39) missense probably benign 0.00
Posted On 2012-12-06