Incidental Mutation 'IGL02501:Styx'
ID 296034
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Styx
Ensembl Gene ENSMUSG00000053205
Gene Name serine/threonine/tyrosine interaction protein
Synonyms 0610039A20Rik, STNS (alternatively spliced intron of Styx)
Accession Numbers
Essential gene? Probably non essential (E-score: 0.228) question?
Stock # IGL02501
Quality Score
Status
Chromosome 14
Chromosomal Location 45588534-45614608 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 45609922 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Glutamine at position 195 (H195Q)
Ref Sequence ENSEMBL: ENSMUSP00000154148 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000046191] [ENSMUST00000111835] [ENSMUST00000226303] [ENSMUST00000226603] [ENSMUST00000226785] [ENSMUST00000226873] [ENSMUST00000228311]
AlphaFold Q60969
Predicted Effect probably benign
Transcript: ENSMUST00000046191
SMART Domains Protein: ENSMUSP00000042860
Gene: ENSMUSG00000037722

DomainStartEndE-ValueType
Pfam:Acetyltransf_7 82 172 8e-9 PFAM
Pfam:Acetyltransf_1 91 171 6.3e-11 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000111835
SMART Domains Protein: ENSMUSP00000107466
Gene: ENSMUSG00000053205

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: H195Q

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000227538
Predicted Effect probably benign
Transcript: ENSMUST00000228311
AA Change: H195Q

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000228321
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 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: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adad1 A T 3: 37,137,489 (GRCm39) I307F probably damaging Het
Adam15 G A 3: 89,247,769 (GRCm39) A789V possibly damaging Het
Bspry A G 4: 62,414,672 (GRCm39) T422A probably benign Het
Btnl6 T A 17: 34,734,648 (GRCm39) D38V possibly damaging Het
Cd59b G A 2: 103,909,273 (GRCm39) C18Y probably damaging Het
Clstn1 T G 4: 149,716,299 (GRCm39) I255R probably damaging Het
Dpp10 A G 1: 123,613,999 (GRCm39) L99P possibly damaging Het
Efr3b C T 12: 4,033,391 (GRCm39) V139I probably benign Het
Emc1 A T 4: 139,098,295 (GRCm39) T759S probably benign Het
Fndc1 C T 17: 7,984,230 (GRCm39) G1232E unknown Het
Gjb3 C T 4: 127,220,157 (GRCm39) G125D probably damaging Het
Helb A G 10: 119,938,693 (GRCm39) S594P possibly damaging Het
Hycc2 C A 1: 58,579,350 (GRCm39) R229L probably damaging Het
Ildr1 T C 16: 36,542,712 (GRCm39) S371P probably damaging Het
Kif1b T A 4: 149,299,433 (GRCm39) R946W probably damaging Het
Lrp12 T C 15: 39,741,300 (GRCm39) T472A probably damaging Het
Lyst A G 13: 13,886,230 (GRCm39) D3031G probably benign Het
Med12l A T 3: 59,169,397 (GRCm39) T1596S possibly damaging Het
Myom1 A C 17: 71,379,076 (GRCm39) probably null Het
Nhlrc2 T A 19: 56,559,086 (GRCm39) Y190* probably null Het
Nol4 A T 18: 22,956,398 (GRCm39) N115K probably damaging Het
Nrg1 T A 8: 32,308,291 (GRCm39) probably null Het
Or7g26 T A 9: 19,229,999 (GRCm39) H56Q probably damaging Het
Oxld1 A C 11: 120,347,714 (GRCm39) L161R probably damaging Het
Phex A G X: 155,969,271 (GRCm39) S568P probably damaging Het
Pkd1 T G 17: 24,788,673 (GRCm39) S810R probably benign Het
Plin2 G T 4: 86,582,723 (GRCm39) C84* probably null Het
Ppfia3 A T 7: 45,004,362 (GRCm39) probably benign Het
Ptpn14 A G 1: 189,582,587 (GRCm39) N478S probably benign Het
Pygl A G 12: 70,237,908 (GRCm39) M801T probably benign Het
Recql5 A G 11: 115,785,917 (GRCm39) Y619H probably benign Het
Scn3a C A 2: 65,356,899 (GRCm39) D182Y possibly damaging Het
Serpinb6e T C 13: 34,016,785 (GRCm39) E316G possibly damaging Het
Shroom4 A G X: 6,495,998 (GRCm39) E386G possibly damaging Het
Slc4a2 A G 5: 24,634,432 (GRCm39) S24G probably benign Het
Slc4a4 A G 5: 89,277,508 (GRCm39) I282V probably benign Het
Slc8b1 C T 5: 120,658,918 (GRCm39) R148C probably damaging Het
Stag2 A G X: 41,360,202 (GRCm39) probably benign Het
Sufu A G 19: 46,439,349 (GRCm39) I190V probably benign Het
Svep1 A G 4: 58,145,341 (GRCm39) probably benign Het
Tbc1d31 T C 15: 57,801,344 (GRCm39) I293T probably benign Het
Timp4 T A 6: 115,223,444 (GRCm39) I160F probably damaging Het
Tmem87a A T 2: 120,234,534 (GRCm39) V3E probably damaging Het
Utp4 T A 8: 107,632,873 (GRCm39) H285Q probably benign Het
Vrk1 T G 12: 106,028,912 (GRCm39) S305A probably benign Het
Zfp329 G T 7: 12,545,106 (GRCm39) H139Q possibly damaging Het
Other mutations in Styx
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
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
Posted On 2015-04-16