Incidental Mutation 'IGL02602:Cyp7a1'
ID300137
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: 0.275) question?
Stock #IGL02602
Quality Score
Status
Chromosome4
Chromosomal Location6265612-6275633 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 6272871 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Threonine at position 114 (I114T)
Ref Sequence ENSEMBL: ENSMUSP00000029905 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029905]
Predicted Effect possibly damaging
Transcript: ENSMUST00000029905
AA Change: I114T

PolyPhen 2 Score 0.876 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000029905
Gene: ENSMUSG00000028240
AA Change: I114T

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: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsf2 A G 11: 94,570,465 probably benign Het
Arhgap20 A T 9: 51,825,843 I148F probably damaging Het
Arhgef10 C T 8: 14,930,198 A146V probably benign Het
Cdk13 A G 13: 17,727,160 F997L probably damaging Het
Cep162 G A 9: 87,246,153 H170Y probably benign Het
Clasp1 T C 1: 118,471,785 F220L probably damaging Het
Clock C A 5: 76,254,426 G129V probably null Het
Clock C T 5: 76,254,427 G129R probably damaging Het
Cybrd1 T C 2: 71,118,148 L10P probably damaging Het
Epha7 T A 4: 28,871,877 V402D possibly damaging Het
Fam228a G A 12: 4,732,808 T95I probably benign Het
Gm7589 C T 9: 59,146,158 noncoding transcript Het
Klf4 C A 4: 55,530,595 R172L probably damaging Het
Macf1 A G 4: 123,355,163 S7190P probably damaging Het
Mga A G 2: 119,931,884 T1119A possibly damaging Het
Nmur2 T A 11: 56,027,063 T367S probably benign Het
Ogfr A G 2: 180,595,437 D605G possibly damaging Het
Olfr1314 A G 2: 112,092,561 F47L probably benign Het
Pcdhb1 A T 18: 37,266,796 N600I probably damaging Het
Pkhd1l1 T C 15: 44,557,931 S3032P probably damaging Het
Ppp2r5e A G 12: 75,493,439 L144P probably damaging Het
Rnf123 G A 9: 108,068,302 R390* probably null Het
Ryr2 T C 13: 11,554,511 probably benign Het
Scarb2 A G 5: 92,448,556 Y410H probably benign Het
Slc12a1 A G 2: 125,154,242 Y105C probably damaging Het
Srrm1 G A 4: 135,325,104 P658L unknown Het
Stt3b A T 9: 115,276,778 S210T probably damaging Het
Sulf2 T C 2: 166,081,300 H635R probably benign Het
Tmem167 C A 13: 90,104,380 R52S probably damaging Het
Tsga13 G A 6: 30,902,277 T167I possibly damaging Het
Txk T C 5: 72,707,720 R271G possibly damaging Het
Vmn1r191 T C 13: 22,179,465 K40E probably damaging Het
Vmn1r69 T A 7: 10,579,974 N277Y probably benign 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
IGL01723:Cyp7a1 APN 4 6272442 missense probably damaging 1.00
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
Posted On2015-04-16