Incidental Mutation 'IGL01622:Cyp46a1'
ID278652
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cyp46a1
Ensembl Gene ENSMUSG00000021259
Gene Namecytochrome P450, family 46, subfamily a, polypeptide 1
Synonymscholestrol 24-hydroxylase, Cyp46
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL01622
Quality Score
Status
Chromosome12
Chromosomal Location108334381-108362234 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 108351975 bp
ZygosityHeterozygous
Amino Acid Change Valine to Alanine at position 215 (V215A)
Ref Sequence ENSEMBL: ENSMUSP00000021684 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021684] [ENSMUST00000221708]
Predicted Effect possibly damaging
Transcript: ENSMUST00000021684
AA Change: V215A

PolyPhen 2 Score 0.780 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000021684
Gene: ENSMUSG00000021259
AA Change: V215A

DomainStartEndE-ValueType
low complexity region 4 18 N/A INTRINSIC
Pfam:p450 34 484 1.7e-86 PFAM
low complexity region 493 499 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000221708
Predicted Effect noncoding transcript
Transcript: ENSMUST00000222240
Predicted Effect noncoding transcript
Transcript: ENSMUST00000222902
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 protein is expressed in the brain, where it converts cholesterol to 24S-hydroxycholesterol. While cholesterol cannot pass the blood-brain barrier, 24S-hydroxycholesterol can be secreted in the brain into the circulation to be returned to the liver for catabolism. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygouse for deletions in this gene are essentially normal. Levels of 24(s)-hydroxycholesterol are reduced in serum and in the brain. Cholesterol synthesis in the brain is reduced 40%. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930596D02Rik G A 14: 35,810,067 Q184* probably null Het
A1bg A C 15: 60,917,893 I502S possibly damaging Het
Actl11 T C 9: 107,928,576 S33P probably benign Het
Aftph G T 11: 20,709,632 D730E probably damaging Het
Arhgap29 A G 3: 121,974,124 probably benign Het
Brf1 T G 12: 112,961,175 E643A probably benign Het
Caskin1 G T 17: 24,503,940 probably null Het
Ccnjl T C 11: 43,585,327 V259A probably benign Het
Ccser2 G T 14: 36,940,963 T88K probably benign Het
Cdk17 T C 10: 93,238,962 probably benign Het
Clec16a G A 16: 10,577,910 S309N possibly damaging Het
Cpxm1 C A 2: 130,391,271 A633S probably benign Het
Ctnnbl1 A T 2: 157,819,548 N326I probably damaging Het
Daxx A G 17: 33,913,480 D528G probably benign Het
Dnah6 T C 6: 73,144,718 Y1427C probably damaging Het
Dpy19l3 G A 7: 35,722,744 T228I probably damaging Het
Fam131c C T 4: 141,382,450 A131V possibly damaging Het
Fam71e2 A G 7: 4,758,723 V330A probably benign Het
Fat1 A G 8: 45,029,555 T3061A possibly damaging Het
Fgl2 T A 5: 21,373,177 L154H possibly damaging Het
Fhod3 T A 18: 25,022,867 I514K probably benign Het
Ficd G A 5: 113,738,561 G266S probably damaging Het
Frem3 A G 8: 80,613,915 T946A probably benign Het
Gan T A 8: 117,187,178 V105D probably damaging Het
Gramd1c A G 16: 43,990,698 V221A probably damaging Het
Hacd1 A G 2: 14,035,856 V196A probably benign Het
Kcna6 C A 6: 126,738,613 V438L probably damaging Het
Kif14 T C 1: 136,497,356 probably benign Het
Klhl41 T C 2: 69,678,238 V512A probably benign Het
Lrfn1 A G 7: 28,466,686 T502A probably damaging Het
Notch3 A T 17: 32,158,870 F105I possibly damaging Het
Olfr1023 A T 2: 85,886,962 H54L probably benign Het
Olfr142 T G 2: 90,252,609 K126N probably damaging Het
P3h1 C T 4: 119,235,283 T171I probably damaging Het
Pcdhb1 A G 18: 37,266,313 E439G possibly damaging Het
Pik3c3 A T 18: 30,290,525 K225* probably null Het
Pik3c3 A G 18: 30,293,049 probably benign Het
Pik3r5 T A 11: 68,486,626 probably null Het
Pnpt1 A C 11: 29,148,272 probably benign Het
Ppp2r1b T A 9: 50,878,122 V495D probably damaging Het
Rbfox3 C A 11: 118,505,614 probably benign Het
Sec14l2 G A 11: 4,103,966 P234S possibly damaging Het
Sec16a A C 2: 26,438,903 D1033E probably benign Het
Sept14 A G 5: 129,685,955 V357A probably damaging Het
Sf3a3 C T 4: 124,718,343 T131I possibly damaging Het
Snrpa A T 7: 27,192,970 M55K probably benign Het
Swt1 G T 1: 151,411,009 T244N probably benign Het
Tbl1xr1 A G 3: 22,192,074 T253A probably benign Het
Tst G T 15: 78,399,764 R288S probably benign Het
Vmn2r60 A G 7: 42,136,486 I238V probably benign Het
Zbtb14 A G 17: 69,388,189 K294R probably benign Het
Zfp710 T A 7: 80,081,123 V16E probably damaging Het
Zfpm2 A G 15: 41,101,924 T602A probably benign Het
Zfr2 G A 10: 81,251,359 M850I probably benign Het
Other mutations in Cyp46a1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01623:Cyp46a1 APN 12 108351975 missense possibly damaging 0.78
IGL01804:Cyp46a1 APN 12 108355486 missense probably benign 0.44
IGL02069:Cyp46a1 APN 12 108346135 missense probably benign 0.18
IGL02900:Cyp46a1 APN 12 108343091 missense probably damaging 1.00
IGL02969:Cyp46a1 APN 12 108343037 missense probably damaging 1.00
PIT4651001:Cyp46a1 UTSW 12 108353108 missense probably benign 0.17
R0138:Cyp46a1 UTSW 12 108351211 missense probably damaging 1.00
R1572:Cyp46a1 UTSW 12 108351939 missense probably null 0.97
R1879:Cyp46a1 UTSW 12 108353126 missense probably damaging 1.00
R2280:Cyp46a1 UTSW 12 108355471 missense probably damaging 1.00
R3879:Cyp46a1 UTSW 12 108358130 missense probably benign 0.14
R4674:Cyp46a1 UTSW 12 108358086 missense probably damaging 1.00
R4717:Cyp46a1 UTSW 12 108352026 critical splice donor site probably null
R6224:Cyp46a1 UTSW 12 108361560 missense probably damaging 1.00
R6473:Cyp46a1 UTSW 12 108355475 missense possibly damaging 0.87
R6539:Cyp46a1 UTSW 12 108353157 splice site probably null
R7253:Cyp46a1 UTSW 12 108351996 missense probably benign 0.16
R8208:Cyp46a1 UTSW 12 108351912 critical splice acceptor site probably null
Posted On2015-04-16