Incidental Mutation 'R2289:Styx'
ID 244229
Institutional Source Beutler Lab
Gene Symbol Styx
Ensembl Gene ENSMUSG00000053205
Gene Name serine/threonine/tyrosine interaction protein
Synonyms 0610039A20Rik, STNS (alternatively spliced intron of Styx)
MMRRC Submission 040288-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.228) question?
Stock # R2289 (G1)
Quality Score 225
Status Not validated
Chromosome 14
Chromosomal Location 45588534-45614608 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 45592404 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 20 (E20G)
Ref Sequence ENSEMBL: ENSMUSP00000107466 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000111835] [ENSMUST00000226303] [ENSMUST00000226603] [ENSMUST00000226785] [ENSMUST00000226873] [ENSMUST00000228311] [ENSMUST00000228818]
AlphaFold Q60969
Predicted Effect possibly damaging
Transcript: ENSMUST00000111835
AA Change: E20G

PolyPhen 2 Score 0.646 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000107466
Gene: ENSMUSG00000053205
AA Change: E20G

DomainStartEndE-ValueType
DSPc 28 173 2.71e-64 SMART
Predicted Effect unknown
Transcript: ENSMUST00000226303
AA Change: E20G
Predicted Effect probably benign
Transcript: ENSMUST00000226603
AA Change: E20G

PolyPhen 2 Score 0.163 (Sensitivity: 0.92; Specificity: 0.87)
Predicted Effect probably benign
Transcript: ENSMUST00000226785
AA Change: E20G

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
Predicted Effect probably benign
Transcript: ENSMUST00000226873
AA Change: E20G

PolyPhen 2 Score 0.187 (Sensitivity: 0.92; Specificity: 0.87)
Predicted Effect probably benign
Transcript: ENSMUST00000228311
AA Change: E20G

PolyPhen 2 Score 0.187 (Sensitivity: 0.92; Specificity: 0.87)
Predicted Effect probably benign
Transcript: ENSMUST00000228818
AA Change: E20G

PolyPhen 2 Score 0.035 (Sensitivity: 0.94; Specificity: 0.82)
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.2%
  • 20x: 95.0%
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 a pseudophosphatase, able to bind potential substrates but lacking an active catalytic loop. The encoded protein may be involved in spermiogenesis. Two transcript variants encoding the same protein have been found for these genes. [provided by RefSeq, Oct 2011]
PHENOTYPE: Males homozygous for a targeted null mutation are sterile due to a deficiency of germ cells at the immature, round, and elongating spermatid stages. Residual epididymal sperm have head abnormalities. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Atp12a G A 14: 56,610,719 (GRCm39) V288I possibly damaging Het
Cntn6 C T 6: 104,545,989 (GRCm39) probably benign Het
Col1a2 G A 6: 4,518,822 (GRCm39) probably benign Het
Cplx3 T A 9: 57,520,941 (GRCm39) E220V possibly damaging Het
Cracdl T C 1: 37,651,342 (GRCm39) K1175R possibly damaging Het
Dcaf10 T A 4: 45,359,816 (GRCm39) W244R probably damaging Het
Dixdc1 A G 9: 50,595,172 (GRCm39) probably null Het
Dlg4 T A 11: 69,917,752 (GRCm39) Y12N probably damaging Het
Fsd1l T A 4: 53,696,931 (GRCm39) Y442N possibly damaging Het
Grm7 G T 6: 110,623,309 (GRCm39) V161F probably damaging Het
Hcrt C A 11: 100,652,745 (GRCm39) A90S probably damaging Het
Itga6 T A 2: 71,648,873 (GRCm39) V119D probably damaging Het
Klrh1 T C 6: 129,745,140 (GRCm39) N152S probably null Het
Lmtk2 T A 5: 144,112,924 (GRCm39) S1215T possibly damaging Het
Loxl2 G A 14: 69,930,524 (GRCm39) E763K probably benign Het
Mcrip1 T C 11: 120,435,530 (GRCm39) E35G probably damaging Het
Nle1 T A 11: 82,793,879 (GRCm39) I386F probably benign Het
Nqo1 T C 8: 108,119,630 (GRCm39) I8V probably benign Het
Nsf C T 11: 103,821,578 (GRCm39) E26K possibly damaging Het
Pax8 T C 2: 24,330,752 (GRCm39) D227G probably benign Het
Phf14 T C 6: 12,047,845 (GRCm39) C885R probably damaging Het
Rhobtb3 A C 13: 76,059,046 (GRCm39) C251G probably damaging Het
Samd13 C T 3: 146,368,446 (GRCm39) A49T probably damaging Het
Snrpa1 T A 7: 65,713,586 (GRCm39) V101E probably benign Het
Thoc1 T C 18: 9,984,488 (GRCm39) Y325H probably damaging Het
Tmem163 T A 1: 127,423,477 (GRCm39) T262S possibly damaging Het
Tsr1 T G 11: 74,790,111 (GRCm39) L102R probably damaging Het
Vash1 G C 12: 86,726,952 (GRCm39) R64P probably damaging Het
Vps13b A C 15: 35,572,251 (GRCm39) D956A probably damaging Het
Vrk1 G A 12: 106,024,120 (GRCm39) G199S probably damaging Het
Vrk3 C T 7: 44,424,866 (GRCm39) T427M probably benign Het
Zfp870 A T 17: 33,102,334 (GRCm39) S333T probably benign Het
Zranb1 T C 7: 132,551,768 (GRCm39) Y140H probably damaging Het
Zscan4b A G 7: 10,635,789 (GRCm39) probably null Het
Other mutations in Styx
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02501:Styx APN 14 45,609,922 (GRCm39) missense probably benign
R0464:Styx UTSW 14 45,609,908 (GRCm39) missense probably benign 0.00
R1772:Styx UTSW 14 45,594,215 (GRCm39) missense probably damaging 1.00
R2067:Styx UTSW 14 45,611,020 (GRCm39) missense probably benign 0.01
R5127:Styx UTSW 14 45,610,961 (GRCm39) splice site probably null
R5583:Styx UTSW 14 45,608,483 (GRCm39) missense possibly damaging 0.72
R5755:Styx UTSW 14 45,605,910 (GRCm39) missense probably benign 0.40
R5982:Styx UTSW 14 45,605,909 (GRCm39) missense probably benign 0.43
R7078:Styx UTSW 14 45,609,873 (GRCm39) missense probably benign 0.01
X0023:Styx UTSW 14 45,596,724 (GRCm39) missense probably benign 0.04
Predicted Primers PCR Primer
(F):5'- GGTTTCTGTCACCAGGGATATC -3'
(R):5'- TAGCCAGGAAAGCAAACTGC -3'

Sequencing Primer
(F):5'- ATTCACTGTGTAGACCAGGC -3'
(R):5'- GAGTGACTCATTAAGCACATCTAC -3'
Posted On 2014-10-30