Incidental Mutation 'IGL01723:Cyp7a1'
ID105166
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cyp7a1
Ensembl Gene ENSMUSG00000028240
Gene Namecytochrome P450, family 7, subfamily a, polypeptide 1
Synonymscholesterol 7 alpha hydroxylase
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.420) question?
Stock #IGL01723
Quality Score
Status
Chromosome4
Chromosomal Location6265612-6275633 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 6272442 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Asparagine at position 257 (I257N)
Ref Sequence ENSEMBL: ENSMUSP00000029905 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029905]
Predicted Effect probably damaging
Transcript: ENSMUST00000029905
AA Change: I257N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000029905
Gene: ENSMUSG00000028240
AA Change: I257N

DomainStartEndE-ValueType
transmembrane domain 5 24 N/A INTRINSIC
Pfam:p450 32 497 2.3e-87 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147346
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 endoplasmic reticulum membrane protein catalyzes the first reaction in the cholesterol catabolic pathway in the liver, which converts cholesterol to bile acids. This reaction is the rate limiting step and the major site of regulation of bile acid synthesis, which is the primary mechanism for the removal of cholesterol from the body. Polymorphisms in the promoter of this gene are associated with defects in bile acid synthesis. [provided by RefSeq, Feb 2010]
PHENOTYPE: Mice homozygous for disruption of this gene experience severe neonatal and postnatal lethality. Supplementation of the maternal diet with fat soluble vitamins and cholic acid starting before birth alleviates much of the phenotype. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca12 G A 1: 71,314,168 A705V probably benign Het
Abcc10 A T 17: 46,313,745 C728S probably damaging Het
Alms1 G A 6: 85,628,094 R1773Q probably benign Het
BC067074 A T 13: 113,367,557 Q198L possibly damaging Het
C030048H21Rik A G 2: 26,254,768 S1316P possibly damaging Het
Cd86 A G 16: 36,607,124 L281S probably benign Het
Cdon C T 9: 35,503,338 P1170S probably benign Het
Col11a2 T A 17: 34,061,280 probably benign Het
Cyp2j12 A G 4: 96,102,126 V401A possibly damaging Het
Ddhd2 A T 8: 25,735,011 L593* probably null Het
Dnah8 T C 17: 30,708,471 L1367S probably damaging Het
Dsg4 G A 18: 20,466,510 V728M probably damaging Het
Dsp G A 13: 38,179,084 V447M probably damaging Het
Epx C T 11: 87,869,402 R462H probably damaging Het
Fgf18 T C 11: 33,134,332 T41A probably damaging Het
Fh1 G T 1: 175,601,542 A469D probably damaging Het
Hcn1 A C 13: 117,976,055 S852R probably damaging Het
Hmcn1 A T 1: 150,744,960 S1166R probably benign Het
Krt78 C T 15: 101,951,798 G228S possibly damaging Het
Lrrn4 T C 2: 132,870,061 E614G possibly damaging Het
Mettl9 T C 7: 121,052,269 I180T possibly damaging Het
Mgat2 A G 12: 69,185,641 T330A probably damaging Het
Myh13 T C 11: 67,369,219 probably benign Het
Nipbl G A 15: 8,335,071 T1283I possibly damaging Het
Nxpe4 A G 9: 48,398,598 D387G probably benign Het
Olfr1110 A G 2: 87,135,478 V281A probably benign Het
Olfr382 T A 11: 73,516,626 D191V probably damaging Het
Pcdhb5 T G 18: 37,321,022 S152A probably benign Het
Pcnt C T 10: 76,418,499 R832H possibly damaging Het
Ptprd A C 4: 76,243,673 S108R probably damaging Het
Ryr3 C T 2: 112,650,111 probably null Het
Slc22a4 C T 11: 53,988,845 V463M probably benign Het
Soga1 T C 2: 157,030,614 M938V probably benign Het
Ttn A T 2: 76,730,404 L29218I probably damaging Het
Ttn T A 2: 76,730,402 L29218F probably damaging Het
Vmn2r44 T A 7: 8,377,916 H326L probably damaging Het
Vps13d A T 4: 145,173,145 M188K possibly damaging Het
Other mutations in Cyp7a1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01298:Cyp7a1 APN 4 6275517 missense probably damaging 1.00
IGL01577:Cyp7a1 APN 4 6273618 missense probably damaging 1.00
IGL02602:Cyp7a1 APN 4 6272871 missense possibly damaging 0.88
IGL03302:Cyp7a1 APN 4 6273801 missense probably benign 0.05
R1017:Cyp7a1 UTSW 4 6272307 missense probably damaging 1.00
R1737:Cyp7a1 UTSW 4 6272848 missense probably benign 0.00
R2044:Cyp7a1 UTSW 4 6275492 missense probably null 1.00
R2326:Cyp7a1 UTSW 4 6268396 missense probably benign
R2867:Cyp7a1 UTSW 4 6272493 missense probably damaging 0.99
R2867:Cyp7a1 UTSW 4 6272493 missense probably damaging 0.99
R3438:Cyp7a1 UTSW 4 6272769 missense probably damaging 1.00
R4181:Cyp7a1 UTSW 4 6271205 missense probably benign 0.09
R4844:Cyp7a1 UTSW 4 6273655 missense probably damaging 1.00
R5184:Cyp7a1 UTSW 4 6271207 missense probably benign
R5371:Cyp7a1 UTSW 4 6268378 missense probably damaging 1.00
R5613:Cyp7a1 UTSW 4 6272799 missense probably damaging 1.00
R5682:Cyp7a1 UTSW 4 6268429 missense probably benign 0.28
R5987:Cyp7a1 UTSW 4 6268476 missense probably benign 0.05
R5995:Cyp7a1 UTSW 4 6272371 missense possibly damaging 0.74
R6128:Cyp7a1 UTSW 4 6272788 missense possibly damaging 0.80
R6552:Cyp7a1 UTSW 4 6272361 nonsense probably null
R6860:Cyp7a1 UTSW 4 6272587 missense probably damaging 1.00
R7032:Cyp7a1 UTSW 4 6268463 missense possibly damaging 0.94
R7631:Cyp7a1 UTSW 4 6272763 missense possibly damaging 0.89
R7884:Cyp7a1 UTSW 4 6272697 missense probably benign 0.04
R8289:Cyp7a1 UTSW 4 6268295 missense probably damaging 1.00
R8681:Cyp7a1 UTSW 4 6271207 missense probably benign
R8721:Cyp7a1 UTSW 4 6268273 missense probably damaging 1.00
R8931:Cyp7a1 UTSW 4 6271238 missense possibly damaging 0.57
Posted On2014-01-21