Incidental Mutation 'R5755:Styx'
ID 445009
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 043202-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.242) question?
Stock # R5755 (G1)
Quality Score 225
Status Not validated
Chromosome 14
Chromosomal Location 45588534-45614608 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 45605910 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Lysine at position 138 (T138K)
Ref Sequence ENSEMBL: ENSMUSP00000154148 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000111835] [ENSMUST00000226303] [ENSMUST00000226603] [ENSMUST00000226785] [ENSMUST00000226873] [ENSMUST00000228311] [ENSMUST00000228818]
AlphaFold Q60969
Predicted Effect probably benign
Transcript: ENSMUST00000111835
AA Change: T138K

PolyPhen 2 Score 0.074 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000107466
Gene: ENSMUSG00000053205
AA Change: T138K

DomainStartEndE-ValueType
DSPc 28 173 2.71e-64 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000226303
Predicted Effect probably benign
Transcript: ENSMUST00000226603
Predicted Effect probably benign
Transcript: ENSMUST00000226785
Predicted Effect probably benign
Transcript: ENSMUST00000226873
AA Change: T138K

PolyPhen 2 Score 0.402 (Sensitivity: 0.89; Specificity: 0.89)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000227538
Predicted Effect probably benign
Transcript: ENSMUST00000228311
AA Change: T138K

PolyPhen 2 Score 0.402 (Sensitivity: 0.89; Specificity: 0.89)
Predicted Effect probably benign
Transcript: ENSMUST00000228818
Predicted Effect noncoding transcript
Transcript: ENSMUST00000228321
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.4%
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: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca3 T A 17: 24,617,428 (GRCm39) F1042I probably damaging Het
Ahnak A G 19: 8,979,096 (GRCm39) T127A probably benign Het
Aloxe3 A G 11: 69,023,575 (GRCm39) I233V probably benign Het
Ambn T A 5: 88,612,350 (GRCm39) probably null Het
Atp2b1 A G 10: 98,839,032 (GRCm39) E39G probably damaging Het
Atp2b1 T C 10: 98,830,671 (GRCm39) probably null Het
Camsap2 C T 1: 136,210,065 (GRCm39) G476R probably damaging Het
Cdk4 T A 10: 126,900,591 (GRCm39) probably null Het
Dcaf12 T C 4: 41,313,356 (GRCm39) Y63C probably damaging Het
Dtna T A 18: 23,754,520 (GRCm39) S445T probably benign Het
Ehmt2 T C 17: 35,127,214 (GRCm39) M109T probably benign Het
Erbb4 T C 1: 68,599,678 (GRCm39) E133G possibly damaging Het
F830016B08Rik T A 18: 60,433,878 (GRCm39) F320L probably damaging Het
Fyco1 A G 9: 123,657,773 (GRCm39) V801A possibly damaging Het
Gm57858 A T 3: 36,071,842 (GRCm39) M501K probably benign Het
Jag1 T A 2: 136,930,610 (GRCm39) N674Y probably damaging Het
Kcnj10 A G 1: 172,197,161 (GRCm39) E225G possibly damaging Het
Klhl11 T A 11: 100,355,177 (GRCm39) M215L probably benign Het
Kmt2d G T 15: 98,761,527 (GRCm39) P608T unknown Het
Map3k19 T C 1: 127,750,118 (GRCm39) M1078V probably benign Het
Neto1 T C 18: 86,517,219 (GRCm39) V512A probably damaging Het
Notch1 T C 2: 26,363,704 (GRCm39) D910G probably benign Het
Or1e19 T A 11: 73,316,557 (GRCm39) N84I probably benign Het
Or2w1 T A 13: 21,317,695 (GRCm39) I250K probably damaging Het
Parvg T C 15: 84,215,297 (GRCm39) probably null Het
Pi4kb A T 3: 94,901,608 (GRCm39) probably null Het
Plag1 T C 4: 3,904,492 (GRCm39) K233R possibly damaging Het
Polr1h T A 17: 37,269,049 (GRCm39) D43V probably benign Het
Rasgrp3 A C 17: 75,831,940 (GRCm39) D587A probably benign Het
Slc7a10 A T 7: 34,898,336 (GRCm39) I336F probably damaging Het
Snx8 T G 5: 140,338,796 (GRCm39) E254A possibly damaging Het
Sp3 A T 2: 72,768,725 (GRCm39) silent Het
Sp8 G T 12: 118,812,822 (GRCm39) A226S probably damaging Het
Spata31d1c C A 13: 65,184,341 (GRCm39) Q628K probably benign Het
Syngr3 A G 17: 24,905,509 (GRCm39) F155S probably damaging Het
Trip11 C T 12: 101,851,924 (GRCm39) W428* probably null Het
Ubr4 A G 4: 139,187,406 (GRCm39) T3825A possibly damaging Het
Vmn2r113 A T 17: 23,176,955 (GRCm39) T580S probably benign Het
Zbtb11 T A 16: 55,821,076 (GRCm39) S724R probably benign Het
Zcchc4 T C 5: 52,973,511 (GRCm39) S379P probably benign 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
R2289:Styx UTSW 14 45,592,404 (GRCm39) missense possibly damaging 0.65
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
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'- TTCACCTTAGCCTGATATGTGG -3'
(R):5'- TTCCCTAATGGCAAGTAGTTTTCC -3'

Sequencing Primer
(F):5'- GGGAATGCAGGTATCTCT -3'
(R):5'- CAGTTTTGCCTAACCAACTATGAC -3'
Posted On 2016-11-21