Incidental Mutation 'IGL02969:Cyp46a1'
ID365724
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 #IGL02969
Quality Score
Status
Chromosome12
Chromosomal Location108334381-108362234 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 108343037 bp
ZygosityHeterozygous
Amino Acid Change Valine to Alanine at position 68 (V68A)
Ref Sequence ENSEMBL: ENSMUSP00000152489 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021684] [ENSMUST00000221708]
Predicted Effect probably damaging
Transcript: ENSMUST00000021684
AA Change: V75A

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000021684
Gene: ENSMUSG00000021259
AA Change: V75A

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 damaging
Transcript: ENSMUST00000221708
AA Change: V68A

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
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: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700011L22Rik A G 8: 79,220,237 probably benign Het
1700061G19Rik A T 17: 56,883,751 T440S probably damaging Het
Akap12 T A 10: 4,354,864 V558E probably damaging Het
Atg4c T C 4: 99,258,387 probably benign Het
Atg7 T A 6: 114,724,923 N673K possibly damaging Het
BC005561 C T 5: 104,519,343 T577I probably benign Het
Brpf3 A G 17: 28,821,305 D900G probably benign Het
C2cd5 T C 6: 143,079,943 Y176C probably damaging Het
Cep70 A T 9: 99,298,504 I571F possibly damaging Het
Cir1 C T 2: 73,303,776 G150R probably null Het
Dlgap2 A G 8: 14,831,579 T883A possibly damaging Het
Dnah2 C A 11: 69,521,187 K249N possibly damaging Het
Dnajc11 A G 4: 151,978,046 K434R probably benign Het
Eri3 A G 4: 117,649,311 Y279C probably damaging Het
Gm3259 C T 5: 95,341,399 P234S probably benign Het
Hectd4 T A 5: 121,365,053 Y4362N possibly damaging Het
Ilk A G 7: 105,740,340 K85E possibly damaging Het
Insrr G T 3: 87,814,191 G1135* probably null Het
Itgax T A 7: 128,149,123 M1108K probably benign Het
Mpzl3 C T 9: 45,068,216 T155I probably benign Het
Olfr1308 A T 2: 111,960,567 C169S probably damaging Het
Olfr805 A T 10: 129,723,196 M116K probably damaging Het
Pkd1l2 G A 8: 117,065,745 T436I probably benign Het
Polr2h A G 16: 20,719,057 Y68C probably damaging Het
Rhobtb3 A G 13: 75,943,431 S2P probably damaging Het
Slc24a5 T C 2: 125,083,227 S263P probably damaging Het
Spz1 T G 13: 92,575,343 K208N possibly damaging Het
Tbpl2 C A 2: 24,091,093 C231F probably damaging Het
Tdrd6 T C 17: 43,627,549 I869M probably damaging Het
Tesk1 G A 4: 43,447,027 E472K possibly damaging Het
Tesk1 C A 4: 43,447,026 C471* probably null Het
Tmem213 T A 6: 38,115,666 V111E probably damaging Het
Tmem232 A T 17: 65,256,563 Y612N possibly damaging Het
Ttn T C 2: 76,899,363 probably benign Het
Vmn2r113 G A 17: 22,958,617 V792I probably benign Het
Wdfy1 A G 1: 79,713,871 V273A probably benign Het
Wwp1 A G 4: 19,623,200 S762P probably damaging Het
Other mutations in Cyp46a1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01622:Cyp46a1 APN 12 108351975 missense possibly damaging 0.78
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
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
Posted On2015-12-18