Incidental Mutation 'IGL02927:Cyp2s1'
ID363927
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cyp2s1
Ensembl Gene ENSMUSG00000040703
Gene Namecytochrome P450, family 2, subfamily s, polypeptide 1
Synonyms1200011C15Rik
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02927
Quality Score
Status
Chromosome7
Chromosomal Location25802475-25816913 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 25808152 bp
ZygosityHeterozygous
Amino Acid Change Lysine to Glutamic Acid at position 291 (K291E)
Ref Sequence ENSEMBL: ENSMUSP00000104032 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000043314] [ENSMUST00000108395] [ENSMUST00000156714]
Predicted Effect probably benign
Transcript: ENSMUST00000043314
AA Change: K291E

PolyPhen 2 Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000041175
Gene: ENSMUSG00000040703
AA Change: K291E

DomainStartEndE-ValueType
signal peptide 1 31 N/A INTRINSIC
Pfam:p450 34 493 6.4e-122 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000108395
AA Change: K291E

PolyPhen 2 Score 0.170 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000104032
Gene: ENSMUSG00000040703
AA Change: K291E

DomainStartEndE-ValueType
signal peptide 1 31 N/A INTRINSIC
Pfam:p450 34 440 4e-108 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152560
Predicted Effect probably benign
Transcript: ENSMUST00000156714
SMART Domains Protein: ENSMUSP00000122264
Gene: ENSMUSG00000040703

DomainStartEndE-ValueType
Pfam:p450 1 91 1.2e-13 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000206602
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 cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the endoplasmic reticulum. In rodents, the homologous protein has been shown to metabolize certain carcinogens; however, the specific function of the human protein has not been determined. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele are viable and fertile and appear normal in terms of body weight, growth rate, organ weight, and daily activity. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700122O11Rik G A 17: 48,036,920 Q192* probably null Het
Actl7b C A 4: 56,740,609 D250Y probably damaging Het
Akr1a1 T A 4: 116,637,983 N273I probably damaging Het
Arhgap32 T A 9: 32,261,135 I1737N possibly damaging Het
Cant1 T C 11: 118,411,062 D143G probably benign Het
Cast T A 13: 74,736,994 D295V probably damaging Het
Cdh1 A G 8: 106,668,511 N851D probably damaging Het
Cntn1 G A 15: 92,291,680 R628H probably benign Het
Cul4a A G 8: 13,124,861 D279G possibly damaging Het
Dhx35 A T 2: 158,820,416 I205F probably damaging Het
Dpp8 G T 9: 65,060,269 R518L probably benign Het
Fam35a T C 14: 34,267,701 Y416C probably damaging Het
Gm9 A G X: 37,210,554 I34T possibly damaging Het
Hmcn1 A T 1: 150,577,278 C5429S probably damaging Het
Iqgap2 A C 13: 95,724,676 L314R possibly damaging Het
Itgav A C 2: 83,795,540 Y810S probably damaging Het
Kcng4 G T 8: 119,626,322 P283Q probably benign Het
Lrrn3 T A 12: 41,453,344 I325F probably damaging Het
Lzts3 A G 2: 130,637,957 probably benign Het
March7 T C 2: 60,236,918 I594T probably damaging Het
Matn2 A T 15: 34,355,655 I269F probably damaging Het
Matn4 A G 2: 164,389,837 F591S probably damaging Het
Mknk1 C T 4: 115,857,091 R20C probably damaging Het
Mrgbp T C 2: 180,584,479 V115A probably damaging Het
Mrgprb8 C T 7: 48,388,625 Q15* probably null Het
Naa38 T C 11: 69,395,917 L9P probably damaging Het
Nrn1 C A 13: 36,730,106 probably null Het
Olfr131 T A 17: 38,082,223 M252L probably benign Het
Olfr1501 G A 19: 13,838,924 T83I probably benign Het
Olfr525 T A 7: 140,322,741 L14Q probably damaging Het
Pkd1 A G 17: 24,575,189 N1950S probably damaging Het
Plagl2 A G 2: 153,232,279 L234P probably damaging Het
Psmb11 C T 14: 54,625,651 R109W probably damaging Het
Rcc1 C T 4: 132,337,756 R139H probably benign Het
Rsbn1 A G 3: 103,962,352 T710A probably benign Het
Slitrk4 A G X: 64,271,327 I578T possibly damaging Het
Srgap1 T C 10: 121,855,462 Y289C probably damaging Het
Stxbp2 A G 8: 3,642,685 D579G possibly damaging Het
Tg T C 15: 66,678,093 Y235H probably damaging Het
Thbs3 A G 3: 89,220,207 N385S probably damaging Het
Trmo A G 4: 46,387,602 S80P probably damaging Het
Ubc T C 5: 125,386,137 K709E probably benign Het
Vstm4 C T 14: 32,937,788 P296S probably damaging Het
Wdr11 G A 7: 129,607,098 probably null Het
Wdr19 T C 5: 65,252,378 I1153T possibly damaging Het
Xpo6 T C 7: 126,156,729 E213G possibly damaging Het
Zxdc A C 6: 90,372,562 T311P probably damaging Het
Other mutations in Cyp2s1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00096:Cyp2s1 APN 7 25809258 missense probably damaging 1.00
IGL02415:Cyp2s1 APN 7 25808137 missense probably damaging 1.00
IGL02530:Cyp2s1 APN 7 25816424 unclassified probably benign
IGL03358:Cyp2s1 APN 7 25808148 missense probably damaging 1.00
R0139:Cyp2s1 UTSW 7 25811689 utr 5 prime probably null
R0523:Cyp2s1 UTSW 7 25806050 missense probably damaging 1.00
R0650:Cyp2s1 UTSW 7 25809258 missense probably damaging 1.00
R0652:Cyp2s1 UTSW 7 25809258 missense probably damaging 1.00
R0723:Cyp2s1 UTSW 7 25809548 missense probably benign 0.01
R1086:Cyp2s1 UTSW 7 25805997 missense probably damaging 1.00
R3732:Cyp2s1 UTSW 7 25803954 missense probably null 0.08
R3732:Cyp2s1 UTSW 7 25803954 missense probably null 0.08
R3733:Cyp2s1 UTSW 7 25803954 missense probably null 0.08
R3813:Cyp2s1 UTSW 7 25805866 splice site probably null
R3958:Cyp2s1 UTSW 7 25803954 missense probably null 0.08
R4593:Cyp2s1 UTSW 7 25816442 unclassified probably benign
R4965:Cyp2s1 UTSW 7 25809285 missense possibly damaging 0.85
R5278:Cyp2s1 UTSW 7 25805884 missense possibly damaging 0.95
R5642:Cyp2s1 UTSW 7 25816319 splice site probably null
R6258:Cyp2s1 UTSW 7 25816442 unclassified probably benign
R6628:Cyp2s1 UTSW 7 25815041 missense probably benign 0.02
R6762:Cyp2s1 UTSW 7 25808070 missense probably damaging 1.00
R7367:Cyp2s1 UTSW 7 25805973 missense possibly damaging 0.90
Posted On2015-12-18