Incidental Mutation 'R6931:Cyp11a1'
ID 540034
Institutional Source Beutler Lab
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
MMRRC Submission 045326-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6931 (G1)
Quality Score 225.009
Status Validated
Chromosome 9
Chromosomal Location 57913694-57934306 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 57932403 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Tyrosine at position 341 (N341Y)
Ref Sequence ENSEMBL: ENSMUSP00000034874 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034874] [ENSMUST00000042205] [ENSMUST00000098682] [ENSMUST00000119665] [ENSMUST00000188116] [ENSMUST00000188539] [ENSMUST00000215944]
AlphaFold Q9QZ82
Predicted Effect possibly damaging
Transcript: ENSMUST00000034874
AA Change: N341Y

PolyPhen 2 Score 0.775 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000034874
Gene: ENSMUSG00000032323
AA Change: N341Y

low complexity region 30 41 N/A INTRINSIC
Pfam:p450 49 507 1.8e-120 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000042205
SMART Domains Protein: ENSMUSP00000040899
Gene: ENSMUSG00000037716

C2 36 140 5.79e-3 SMART
coiled coil region 413 451 N/A INTRINSIC
coiled coil region 472 560 N/A INTRINSIC
coiled coil region 630 668 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000098682
SMART Domains Protein: ENSMUSP00000096279
Gene: ENSMUSG00000037716

C2 281 385 5.79e-3 SMART
coiled coil region 598 636 N/A INTRINSIC
coiled coil region 657 745 N/A INTRINSIC
coiled coil region 884 922 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000119665
SMART Domains Protein: ENSMUSP00000112613
Gene: ENSMUSG00000037716

C2 36 140 5.79e-3 SMART
coiled coil region 413 559 N/A INTRINSIC
coiled coil region 629 667 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000188116
SMART Domains Protein: ENSMUSP00000140545
Gene: ENSMUSG00000032323

Pfam:p450 32 115 3.5e-12 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000188539
AA Change: N239Y

PolyPhen 2 Score 0.655 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000140777
Gene: ENSMUSG00000032323
AA Change: N239Y

Pfam:p450 23 279 2.6e-51 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000215944
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.4%
  • 20x: 98.0%
Validation Efficiency 99% (77/78)
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: 79 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310003L06Rik T A 5: 88,118,561 (GRCm39) I15N probably damaging Het
2900092C05Rik T A 7: 12,246,523 (GRCm39) S6R unknown Het
Abca6 T A 11: 110,135,154 (GRCm39) L210F probably benign Het
Abcc4 T C 14: 118,765,400 (GRCm39) Q919R probably damaging Het
Adcy1 A G 11: 7,100,884 (GRCm39) D811G possibly damaging Het
Akna A G 4: 63,305,339 (GRCm39) S476P probably benign Het
Ankrd49 T C 9: 14,694,122 (GRCm39) N15S probably benign Het
Apcdd1 A G 18: 63,066,979 (GRCm39) D31G probably damaging Het
Aplp1 G T 7: 30,142,625 (GRCm39) R106S probably damaging Het
Arhgap40 T C 2: 158,373,138 (GRCm39) L132S probably benign Het
Atp8b5 G T 4: 43,364,108 (GRCm39) probably null Het
Axl T C 7: 25,460,858 (GRCm39) D717G probably damaging Het
Bub1 T A 2: 127,643,302 (GRCm39) D1014V probably damaging Het
Cacna2d4 T A 6: 119,259,195 (GRCm39) V603E possibly damaging Het
Cnot11 G C 1: 39,579,002 (GRCm39) C289S probably damaging Het
Coasy A G 11: 100,974,407 (GRCm39) H191R probably benign Het
Cyp1a2 T C 9: 57,589,439 (GRCm39) N125S probably benign Het
Cyp2j8 A T 4: 96,333,018 (GRCm39) probably null Het
Dnah9 A T 11: 66,008,452 (GRCm39) I791K possibly damaging Het
Ecm2 A T 13: 49,682,487 (GRCm39) Q505H probably benign Het
Fam135a T A 1: 24,124,568 (GRCm39) M1L probably damaging Het
Fam171a2 A G 11: 102,329,260 (GRCm39) S500P possibly damaging Het
Fat3 A G 9: 15,871,238 (GRCm39) S3718P possibly damaging Het
Frem1 G A 4: 82,888,914 (GRCm39) P1085S probably damaging Het
Gcfc2 A G 6: 81,919,966 (GRCm39) I390V probably benign Het
Gemin4 A G 11: 76,101,782 (GRCm39) L993P probably damaging Het
Ggnbp2 T A 11: 84,723,993 (GRCm39) D647V probably damaging Het
Gpr84 A C 15: 103,217,441 (GRCm39) L212R probably damaging Het
Hnrnpu T C 1: 178,158,997 (GRCm39) probably benign Het
Hspg2 G T 4: 137,268,031 (GRCm39) C2116F probably damaging Het
Icam4 T A 9: 20,941,747 (GRCm39) V249E probably damaging Het
Itga1 T C 13: 115,138,099 (GRCm39) N429D probably benign Het
Kcns1 T C 2: 164,006,758 (GRCm39) T402A probably damaging Het
Ky T A 9: 102,414,826 (GRCm39) V246E probably damaging Het
Marchf1 A G 8: 66,921,144 (GRCm39) T529A probably benign Het
Med18 C G 4: 132,187,194 (GRCm39) V102L probably damaging Het
Mlst8 T C 17: 24,696,249 (GRCm39) D160G probably damaging Het
Mthfd1 T C 12: 76,350,472 (GRCm39) I470T probably benign Het
Muc1 C T 3: 89,136,466 (GRCm39) probably benign Het
Mup8 G A 4: 60,220,322 (GRCm39) L137F probably damaging Het
Mybpc1 A T 10: 88,378,192 (GRCm39) L341* probably null Het
Nacad A G 11: 6,551,877 (GRCm39) F438S probably benign Het
Necap2 C A 4: 140,805,523 (GRCm39) probably null Het
Nifk T C 1: 118,260,078 (GRCm39) L163S possibly damaging Het
Npsr1 A G 9: 24,201,293 (GRCm39) I73V probably benign Het
Nup50l T C 6: 96,142,529 (GRCm39) T172A possibly damaging Het
Oog3 C T 4: 143,885,923 (GRCm39) C225Y probably benign Het
Or2d2 A G 7: 106,728,108 (GRCm39) L164P probably damaging Het
Or4b13 A T 2: 90,083,121 (GRCm39) C70* probably null Het
Or4c100 T A 2: 88,356,538 (GRCm39) C204S possibly damaging Het
Or4p18 G A 2: 88,232,408 (GRCm39) T290I probably benign Het
Plagl2 C A 2: 153,077,863 (GRCm39) K39N probably benign Het
Plcg2 T A 8: 118,284,058 (GRCm39) D118E probably benign Het
Ppp4r3b A T 11: 29,161,786 (GRCm39) K720I possibly damaging Het
Prmt3 A T 7: 49,478,764 (GRCm39) T442S probably benign Het
Prr14l G A 5: 32,988,035 (GRCm39) H487Y probably damaging Het
Psmb3 G A 11: 97,594,797 (GRCm39) V63I probably benign Het
Psmc6 T A 14: 45,581,182 (GRCm39) I326K possibly damaging Het
Ptcd1 T C 5: 145,091,885 (GRCm39) T405A probably benign Het
Rbm33 G A 5: 28,615,743 (GRCm39) V29M probably damaging Het
Rsrc1 C T 3: 66,901,982 (GRCm39) P44L unknown Het
Scarb1 T A 5: 125,361,783 (GRCm39) I107F probably damaging Het
Slc39a12 A G 2: 14,394,186 (GRCm39) S19G probably benign Het
Slc44a5 T C 3: 153,964,143 (GRCm39) V503A probably benign Het
Slc9a9 T C 9: 94,552,139 (GRCm39) S9P possibly damaging Het
Snrnp35 A C 5: 124,628,764 (GRCm39) R192S possibly damaging Het
Tbx15 T C 3: 99,259,467 (GRCm39) L446P probably damaging Het
Tlnrd1 A G 7: 83,531,805 (GRCm39) F209L probably benign Het
Tmprss12 C T 15: 100,183,149 (GRCm39) R164C probably damaging Het
Tnfsf4 T A 1: 161,244,644 (GRCm39) F111Y possibly damaging Het
Trib2 A T 12: 15,843,640 (GRCm39) M198K probably benign Het
Ttll8 A G 15: 88,798,507 (GRCm39) S743P possibly damaging Het
Ush2a A T 1: 188,460,580 (GRCm39) N2614Y probably benign Het
Usp6nl G A 2: 6,435,269 (GRCm39) V343I possibly damaging Het
Vrtn C A 12: 84,697,016 (GRCm39) Q589K probably benign Het
Zbed5 T A 5: 129,932,170 (GRCm39) Y706* probably null Het
Zc3h10 A G 10: 128,380,553 (GRCm39) V268A probably damaging Het
Zfp442 C T 2: 150,252,860 (GRCm39) probably null Het
Zpld2 A T 4: 133,920,464 (GRCm39) M567K probably benign Het
Other mutations in Cyp11a1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00675:Cyp11a1 APN 9 57,926,596 (GRCm39) missense probably damaging 1.00
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
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
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2018-11-06