Incidental Mutation 'IGL00675:Cyp11a1'
ID 9972
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cyp11a1
Ensembl Gene ENSMUSG00000032323
Gene Name cytochrome P450, family 11, subfamily a, polypeptide 1
Synonyms Cyp11a, D9Ertd411e, Scc, P450scc, cholesterol side chain cleavage, cscc
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL00675
Quality Score
Status
Chromosome 9
Chromosomal Location 57913694-57934306 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 57926596 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Tryptophan at position 111 (G111W)
Ref Sequence ENSEMBL: ENSMUSP00000140777 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034874] [ENSMUST00000188116] [ENSMUST00000188539]
AlphaFold Q9QZ82
Predicted Effect probably damaging
Transcript: ENSMUST00000034874
AA Change: G213W

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000034874
Gene: ENSMUSG00000032323
AA Change: G213W

DomainStartEndE-ValueType
low complexity region 30 41 N/A INTRINSIC
Pfam:p450 49 507 1.8e-120 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000188116
AA Change: G44W

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000140545
Gene: ENSMUSG00000032323
AA Change: G44W

DomainStartEndE-ValueType
Pfam:p450 32 115 3.5e-12 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000188539
AA Change: G111W

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000140777
Gene: ENSMUSG00000032323
AA Change: G111W

DomainStartEndE-ValueType
Pfam:p450 23 279 2.6e-51 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000188944
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 mitochondrial inner membrane and catalyzes the conversion of cholesterol to pregnenolone, the first and rate-limiting step in the synthesis of the steroid hormones. Two transcript variants encoding different isoforms have been found for this gene. The cellular location of the smaller isoform is unclear since it lacks the mitochondrial-targeting transit peptide. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mice are exhibit a steroid deficiency and die within days of birth showing signs of dehydration. Males are feminized with female external genitalia and underdeveloped gonads. Mice homozgyous for another knock-out allele exhibit abnormal adrenal development and neonatal lethality. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 17 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca5 A T 11: 110,195,811 (GRCm39) D549E probably damaging Het
Abcc9 A G 6: 142,610,347 (GRCm39) F606L probably damaging Het
Bltp3a C T 17: 28,095,891 (GRCm39) probably benign Het
Canx A G 11: 50,191,823 (GRCm39) S363P possibly damaging Het
Cdh6 T C 15: 13,041,525 (GRCm39) D513G possibly damaging Het
Dnm1l A G 16: 16,151,691 (GRCm39) probably null Het
Dsg1b T A 18: 20,524,975 (GRCm39) L137* probably null Het
Kcnh5 A T 12: 75,160,963 (GRCm39) probably null Het
Kcnu1 A G 8: 26,341,877 (GRCm39) E74G probably benign Het
Nlrp9b T A 7: 19,757,111 (GRCm39) I116K possibly damaging Het
Notch2 T C 3: 98,018,991 (GRCm39) Y718H possibly damaging Het
Prkdc T C 16: 15,605,022 (GRCm39) L2980P probably benign Het
Samm50 C T 15: 84,084,576 (GRCm39) S171F possibly damaging Het
Saraf T A 8: 34,634,962 (GRCm39) S288T probably benign Het
Ubr5 C T 15: 38,018,528 (GRCm39) V865I possibly damaging Het
Vnn3 G T 10: 23,743,066 (GRCm39) K425N possibly damaging Het
Zswim8 T C 14: 20,766,969 (GRCm39) probably benign Het
Other mutations in Cyp11a1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01122:Cyp11a1 APN 9 57,923,589 (GRCm39) missense probably damaging 1.00
IGL01993:Cyp11a1 APN 9 57,928,106 (GRCm39) missense probably damaging 1.00
PIT4431001:Cyp11a1 UTSW 9 57,923,555 (GRCm39) critical splice acceptor site probably null
R0347:Cyp11a1 UTSW 9 57,923,543 (GRCm39) unclassified probably benign
R1446:Cyp11a1 UTSW 9 57,922,560 (GRCm39) missense possibly damaging 0.95
R1774:Cyp11a1 UTSW 9 57,925,643 (GRCm39) missense probably benign 0.05
R1918:Cyp11a1 UTSW 9 57,934,040 (GRCm39) missense probably damaging 1.00
R2935:Cyp11a1 UTSW 9 57,923,673 (GRCm39) missense probably damaging 1.00
R3724:Cyp11a1 UTSW 9 57,926,605 (GRCm39) missense probably benign 0.00
R4866:Cyp11a1 UTSW 9 57,933,380 (GRCm39) missense probably damaging 1.00
R5301:Cyp11a1 UTSW 9 57,926,544 (GRCm39) intron probably benign
R5718:Cyp11a1 UTSW 9 57,925,508 (GRCm39) missense probably benign 0.00
R5787:Cyp11a1 UTSW 9 57,922,550 (GRCm39) missense probably benign 0.03
R5988:Cyp11a1 UTSW 9 57,928,117 (GRCm39) missense probably benign 0.01
R6044:Cyp11a1 UTSW 9 57,933,987 (GRCm39) missense probably damaging 1.00
R6286:Cyp11a1 UTSW 9 57,924,701 (GRCm39) intron probably benign
R6306:Cyp11a1 UTSW 9 57,932,383 (GRCm39) missense probably benign 0.00
R6325:Cyp11a1 UTSW 9 57,932,851 (GRCm39) missense probably benign
R6826:Cyp11a1 UTSW 9 57,932,370 (GRCm39) missense probably damaging 0.97
R6931:Cyp11a1 UTSW 9 57,932,403 (GRCm39) missense possibly damaging 0.77
R6960:Cyp11a1 UTSW 9 57,925,659 (GRCm39) missense probably damaging 1.00
R7900:Cyp11a1 UTSW 9 57,923,667 (GRCm39) missense possibly damaging 0.94
R8947:Cyp11a1 UTSW 9 57,924,738 (GRCm39) missense probably benign 0.00
R8986:Cyp11a1 UTSW 9 57,925,644 (GRCm39) missense probably damaging 1.00
R9347:Cyp11a1 UTSW 9 57,928,141 (GRCm39) missense possibly damaging 0.86
R9592:Cyp11a1 UTSW 9 57,925,605 (GRCm39) missense possibly damaging 0.46
Posted On 2012-12-06