Incidental Mutation 'IGL02415:Cyp2s1'
ID 292414
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cyp2s1
Ensembl Gene ENSMUSG00000040703
Gene Name cytochrome P450, family 2, subfamily s, polypeptide 1
Synonyms 1200011C15Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02415
Quality Score
Chromosome 7
Chromosomal Location 25501894-25515950 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 25507562 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 296 (T296A)
Ref Sequence ENSEMBL: ENSMUSP00000104032 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000043314] [ENSMUST00000108395] [ENSMUST00000156714]
AlphaFold Q9DBX6
Predicted Effect probably damaging
Transcript: ENSMUST00000043314
AA Change: T296A

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000041175
Gene: ENSMUSG00000040703
AA Change: T296A

signal peptide 1 31 N/A INTRINSIC
Pfam:p450 34 493 6.4e-122 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000108395
AA Change: T296A

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000104032
Gene: ENSMUSG00000040703
AA Change: T296A

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

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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110059G10Rik T C 9: 122,777,056 (GRCm39) D124G probably benign Het
Adamts13 T A 2: 26,879,295 (GRCm39) I616N possibly damaging Het
Adamts3 T C 5: 89,854,506 (GRCm39) probably null Het
Amy1 T C 3: 113,357,234 (GRCm39) I202V probably benign Het
Bdp1 G A 13: 100,225,916 (GRCm39) T322I probably damaging Het
Cep295 A G 9: 15,264,316 (GRCm39) L110S probably damaging Het
Cep72 T C 13: 74,198,273 (GRCm39) D369G probably benign Het
Chd3 A T 11: 69,239,739 (GRCm39) probably benign Het
Ckmt2 G A 13: 92,011,459 (GRCm39) probably benign Het
E2f5 T A 3: 14,668,957 (GRCm39) V283E probably benign Het
Eeig2 A G 3: 108,887,608 (GRCm39) Y219H probably damaging Het
F5 A G 1: 164,019,498 (GRCm39) T658A probably damaging Het
Gml A T 15: 74,688,289 (GRCm39) Y59* probably null Het
Kmo A T 1: 175,476,889 (GRCm39) probably benign Het
Krt25 A T 11: 99,213,398 (GRCm39) I107N probably damaging Het
Llgl2 A G 11: 115,744,111 (GRCm39) M773V probably damaging Het
Lyst G A 13: 13,835,541 (GRCm39) C1741Y probably benign Het
Med12 T C X: 100,325,396 (GRCm39) V761A probably damaging Het
Mrpl19 T C 6: 81,940,942 (GRCm39) T150A probably benign Het
Muc2 G T 7: 141,305,609 (GRCm39) E646* probably null Het
Muc20 T A 16: 32,615,051 (GRCm39) T109S unknown Het
Nr2f6 T C 8: 71,827,156 (GRCm39) T382A probably benign Het
Nrap A G 19: 56,370,741 (GRCm39) I172T probably damaging Het
Or5an1 A G 19: 12,260,862 (GRCm39) Y150C probably benign Het
Or8b47 T C 9: 38,435,408 (GRCm39) C127R probably benign Het
P3h1 A T 4: 119,105,152 (GRCm39) Q710L probably benign Het
Parvb A G 15: 84,177,016 (GRCm39) H185R probably damaging Het
Pkhd1 A G 1: 20,484,645 (GRCm39) I1970T probably damaging Het
Pkhd1 T C 1: 20,592,983 (GRCm39) Y1710C probably damaging Het
Plxna2 C A 1: 194,326,272 (GRCm39) R69S probably damaging Het
Rad51ap2 A G 12: 11,506,930 (GRCm39) N284S possibly damaging Het
Reln T A 5: 22,176,949 (GRCm39) S1906C possibly damaging Het
Rln1 T C 19: 29,311,798 (GRCm39) R67G probably damaging Het
Shcbp1 C T 8: 4,804,239 (GRCm39) V224I possibly damaging Het
Slc13a4 A G 6: 35,260,172 (GRCm39) probably null Het
Stx6 A G 1: 155,069,059 (GRCm39) E195G possibly damaging Het
Sult2b1 G T 7: 45,391,509 (GRCm39) D90E possibly damaging Het
Taok1 A G 11: 77,431,066 (GRCm39) probably benign Het
Tbx15 A T 3: 99,259,826 (GRCm39) M566L probably benign Het
Tcaf1 C T 6: 42,663,584 (GRCm39) A99T probably benign Het
Tcf20 T A 15: 82,737,660 (GRCm39) M1264L probably benign Het
Tenm4 G A 7: 96,523,281 (GRCm39) V1571M probably damaging Het
Ttc39a A G 4: 109,288,726 (GRCm39) probably benign Het
Ubr1 C A 2: 120,801,084 (GRCm39) probably benign Het
Ulk1 T C 5: 110,935,487 (GRCm39) D926G probably damaging Het
Vmn2r110 T C 17: 20,804,033 (GRCm39) I181V probably benign Het
Vmn2r66 G A 7: 84,656,020 (GRCm39) T332I probably damaging Het
Wdr1 C A 5: 38,688,453 (GRCm39) D161Y probably damaging Het
Wnt7a T C 6: 91,371,539 (GRCm39) Y141C probably damaging Het
Xrra1 G A 7: 99,565,150 (GRCm39) E573K probably benign Het
Zfp334 G T 2: 165,223,771 (GRCm39) Q91K possibly damaging Het
Other mutations in Cyp2s1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00096:Cyp2s1 APN 7 25,508,683 (GRCm39) missense probably damaging 1.00
IGL02530:Cyp2s1 APN 7 25,515,849 (GRCm39) unclassified probably benign
IGL02927:Cyp2s1 APN 7 25,507,577 (GRCm39) missense probably benign 0.17
IGL03358:Cyp2s1 APN 7 25,507,573 (GRCm39) missense probably damaging 1.00
R0139:Cyp2s1 UTSW 7 25,511,114 (GRCm39) splice site probably null
R0523:Cyp2s1 UTSW 7 25,505,475 (GRCm39) missense probably damaging 1.00
R0650:Cyp2s1 UTSW 7 25,508,683 (GRCm39) missense probably damaging 1.00
R0652:Cyp2s1 UTSW 7 25,508,683 (GRCm39) missense probably damaging 1.00
R0723:Cyp2s1 UTSW 7 25,508,973 (GRCm39) missense probably benign 0.01
R1086:Cyp2s1 UTSW 7 25,505,422 (GRCm39) missense probably damaging 1.00
R3732:Cyp2s1 UTSW 7 25,503,379 (GRCm39) missense probably null 0.08
R3732:Cyp2s1 UTSW 7 25,503,379 (GRCm39) missense probably null 0.08
R3733:Cyp2s1 UTSW 7 25,503,379 (GRCm39) missense probably null 0.08
R3813:Cyp2s1 UTSW 7 25,505,291 (GRCm39) splice site probably null
R3958:Cyp2s1 UTSW 7 25,503,379 (GRCm39) missense probably null 0.08
R4593:Cyp2s1 UTSW 7 25,515,867 (GRCm39) unclassified probably benign
R4965:Cyp2s1 UTSW 7 25,508,710 (GRCm39) missense possibly damaging 0.85
R5278:Cyp2s1 UTSW 7 25,505,309 (GRCm39) missense possibly damaging 0.95
R5642:Cyp2s1 UTSW 7 25,515,744 (GRCm39) splice site probably null
R6258:Cyp2s1 UTSW 7 25,515,867 (GRCm39) unclassified probably benign
R6628:Cyp2s1 UTSW 7 25,514,466 (GRCm39) missense probably benign 0.02
R6762:Cyp2s1 UTSW 7 25,507,495 (GRCm39) missense probably damaging 1.00
R7367:Cyp2s1 UTSW 7 25,505,398 (GRCm39) missense possibly damaging 0.90
R8145:Cyp2s1 UTSW 7 25,507,467 (GRCm39) critical splice donor site probably null
R8275:Cyp2s1 UTSW 7 25,508,735 (GRCm39) missense probably benign 0.10
R9733:Cyp2s1 UTSW 7 25,507,529 (GRCm39) missense probably damaging 1.00
Posted On 2015-04-16