Incidental Mutation 'R4459:Cyp11b1'
ID 330074
Institutional Source Beutler Lab
Gene Symbol Cyp11b1
Ensembl Gene ENSMUSG00000075604
Gene Name cytochrome P450, family 11, subfamily b, polypeptide 1
Synonyms Cyp11b-1, Cyp11b
MMRRC Submission 041579-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.383) question?
Stock # R4459 (G1)
Quality Score 225
Status Not validated
Chromosome 15
Chromosomal Location 74706741-74713492 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 74708208 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Aspartic acid at position 422 (E422D)
Ref Sequence ENSEMBL: ENSMUSP00000127888 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000170259] [ENSMUST00000188180]
AlphaFold Q3TG86
Predicted Effect probably damaging
Transcript: ENSMUST00000170259
AA Change: E422D

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000127888
Gene: ENSMUSG00000075604
AA Change: E422D

DomainStartEndE-ValueType
low complexity region 22 33 N/A INTRINSIC
Pfam:p450 44 497 4.3e-109 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000188180
SMART Domains Protein: ENSMUSP00000141185
Gene: ENSMUSG00000068600

DomainStartEndE-ValueType
signal peptide 1 18 N/A INTRINSIC
Blast:LU 47 80 2e-15 BLAST
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.6%
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. The enzyme has steroid 18-hydroxylase activity to synthesize aldosterone and 18-oxocortisol as well as steroid 11 beta-hydroxylase activity. Mutations in this gene cause corticosterone methyl oxidase deficiency. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a null allele exhibit adrenal hypertrophy, abnormal organ weights, abnormal hormone levels, abnormal urine chemistry, hypokalemia, increased blood pressure, and female infertility. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc4 C T 14: 118,836,805 (GRCm39) R652Q probably benign Het
Anks1b G A 10: 90,346,706 (GRCm39) V669I probably damaging Het
Arsi G A 18: 61,049,723 (GRCm39) G202E probably benign Het
Ash1l G A 3: 88,873,541 (GRCm39) R108Q probably damaging Het
BC049715 G A 6: 136,817,050 (GRCm39) A97T probably damaging Het
Dmxl1 A T 18: 50,094,283 (GRCm39) I2920F possibly damaging Het
Dnaaf6rt A G 1: 31,262,405 (GRCm39) D129G probably damaging Het
Efcab6 C T 15: 83,788,490 (GRCm39) G935S probably damaging Het
Esp3 C G 17: 40,944,478 (GRCm39) T40S probably null Het
Gc T C 5: 89,589,146 (GRCm39) M206V probably benign Het
Gm15446 A T 5: 110,091,107 (GRCm39) H453L probably benign Het
Hes6 A G 1: 91,340,061 (GRCm39) S132P probably damaging Het
Ighg2b T C 12: 113,270,578 (GRCm39) Y184C unknown Het
Itga2 C G 13: 114,980,019 (GRCm39) D1061H probably damaging Het
Kcnj5 A G 9: 32,233,691 (GRCm39) I208T probably damaging Het
Klhl26 T C 8: 70,904,194 (GRCm39) Y538C probably damaging Het
Letm2 A G 8: 26,076,715 (GRCm39) C296R probably damaging Het
Lrfn4 C T 19: 4,662,662 (GRCm39) V452I probably benign Het
Mypn A G 10: 63,028,211 (GRCm39) V284A probably damaging Het
Or14j9 G A 17: 37,874,365 (GRCm39) T279I probably damaging Het
Or2y1e A T 11: 49,218,703 (GRCm39) N155I probably damaging Het
Or5aq1 T C 2: 86,966,005 (GRCm39) H220R probably benign Het
Or8c20 T A 9: 38,261,288 (GRCm39) V297D probably damaging Het
Pcdhgb6 C T 18: 37,875,759 (GRCm39) P156S probably benign Het
Pou2f1 A G 1: 165,722,575 (GRCm39) F337L probably damaging Het
Prl7a2 A G 13: 27,849,979 (GRCm39) V31A probably benign Het
Rasal2 A G 1: 157,003,402 (GRCm39) F419S possibly damaging Het
Rmnd5a C T 6: 71,373,865 (GRCm39) G310R probably damaging Het
Rrm2b T A 15: 37,945,397 (GRCm39) probably null Het
Smg8 T C 11: 86,976,396 (GRCm39) D395G probably benign Het
Snx30 A T 4: 59,885,022 (GRCm39) R221* probably null Het
Tyk2 T C 9: 21,035,711 (GRCm39) E157G probably damaging Het
Wdr90 T A 17: 26,079,976 (GRCm39) T120S possibly damaging Het
Zfp747l1 A G 7: 126,983,917 (GRCm39) L395P probably damaging Het
Zfp804b A T 5: 6,821,481 (GRCm39) D491E probably damaging Het
Other mutations in Cyp11b1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00542:Cyp11b1 APN 15 74,707,702 (GRCm39) splice site probably null
IGL01154:Cyp11b1 APN 15 74,710,383 (GRCm39) missense probably benign
IGL01982:Cyp11b1 APN 15 74,711,252 (GRCm39) missense possibly damaging 0.69
IGL02156:Cyp11b1 APN 15 74,707,646 (GRCm39) missense probably benign 0.25
IGL02424:Cyp11b1 APN 15 74,711,085 (GRCm39) missense probably benign 0.23
IGL02937:Cyp11b1 APN 15 74,708,408 (GRCm39) missense possibly damaging 0.81
IGL03080:Cyp11b1 APN 15 74,711,285 (GRCm39) splice site probably null
IGL03101:Cyp11b1 APN 15 74,707,703 (GRCm39) missense probably benign 0.39
R1230:Cyp11b1 UTSW 15 74,712,791 (GRCm39) missense probably benign 0.01
R1699:Cyp11b1 UTSW 15 74,712,666 (GRCm39) missense possibly damaging 0.89
R1755:Cyp11b1 UTSW 15 74,710,383 (GRCm39) missense probably benign
R2913:Cyp11b1 UTSW 15 74,708,270 (GRCm39) missense probably damaging 0.99
R4361:Cyp11b1 UTSW 15 74,710,865 (GRCm39) missense possibly damaging 0.87
R5822:Cyp11b1 UTSW 15 74,708,670 (GRCm39) missense probably null 1.00
R6921:Cyp11b1 UTSW 15 74,712,798 (GRCm39) missense probably benign 0.00
R7214:Cyp11b1 UTSW 15 74,708,708 (GRCm39) missense probably benign 0.00
R7402:Cyp11b1 UTSW 15 74,712,674 (GRCm39) missense probably damaging 0.96
R7575:Cyp11b1 UTSW 15 74,711,162 (GRCm39) missense probably benign 0.01
R7689:Cyp11b1 UTSW 15 74,710,897 (GRCm39) missense probably benign 0.01
R7699:Cyp11b1 UTSW 15 74,707,691 (GRCm39) missense probably damaging 1.00
R7700:Cyp11b1 UTSW 15 74,707,691 (GRCm39) missense probably damaging 1.00
R8443:Cyp11b1 UTSW 15 74,710,789 (GRCm39) missense possibly damaging 0.70
R8509:Cyp11b1 UTSW 15 74,711,202 (GRCm39) missense possibly damaging 0.61
R8836:Cyp11b1 UTSW 15 74,710,387 (GRCm39) missense possibly damaging 0.74
R8926:Cyp11b1 UTSW 15 74,711,087 (GRCm39) missense probably benign 0.37
R9558:Cyp11b1 UTSW 15 74,710,789 (GRCm39) missense probably benign 0.07
X0064:Cyp11b1 UTSW 15 74,713,436 (GRCm39) missense probably benign 0.11
Z1176:Cyp11b1 UTSW 15 74,711,204 (GRCm39) missense probably damaging 0.97
Predicted Primers PCR Primer
(F):5'- CACACCTCAGGCTCATAAACTTTG -3'
(R):5'- TGGTGCTTCAGAACTACCATG -3'

Sequencing Primer
(F):5'- CAGGCTCATAAACTTTGAAGACCTG -3'
(R):5'- AGAACTACCATGTCCCTGCTGG -3'
Posted On 2015-07-21