Incidental Mutation 'R7402:Cyp11b1'
ID 574293
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 045484-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.383) question?
Stock # R7402 (G1)
Quality Score 225.009
Status Not validated
Chromosome 15
Chromosomal Location 74706741-74713492 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 74712674 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Histidine at position 129 (R129H)
Ref Sequence ENSEMBL: ENSMUSP00000127888 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000170259]
AlphaFold Q3TG86
Predicted Effect probably damaging
Transcript: ENSMUST00000170259
AA Change: R129H

PolyPhen 2 Score 0.957 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000127888
Gene: ENSMUSG00000075604
AA Change: R129H

DomainStartEndE-ValueType
low complexity region 22 33 N/A INTRINSIC
Pfam:p450 44 497 4.3e-109 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
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: 98 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc4 G T 14: 118,943,487 (GRCm39) P12Q probably damaging Het
Acsf3 A G 8: 123,507,163 (GRCm39) Y152C probably damaging Het
Adam22 T A 5: 8,145,049 (GRCm39) Q803L possibly damaging Het
Adamtsl3 G A 7: 82,227,825 (GRCm39) V1337I probably damaging Het
Adra1b T C 11: 43,666,845 (GRCm39) D464G possibly damaging Het
Alpk3 T A 7: 80,726,660 (GRCm39) I115K probably benign Het
Amdhd2 A G 17: 24,380,657 (GRCm39) S96P Het
Ankib1 T G 5: 3,819,586 (GRCm39) D111A probably benign Het
Arhgef2 A G 3: 88,540,873 (GRCm39) D216G probably damaging Het
Astn1 A T 1: 158,380,425 (GRCm39) probably benign Het
Atosa C A 9: 74,913,668 (GRCm39) Y107* probably null Het
Atrn T A 2: 130,789,520 (GRCm39) W328R probably damaging Het
Atxn7 A T 14: 14,095,427 (GRCm38) H375L probably damaging Het
Btaf1 A T 19: 36,980,915 (GRCm39) N1579Y probably damaging Het
Cacna1b A T 2: 24,497,671 (GRCm39) L2079Q probably benign Het
Ccdc102a T C 8: 95,629,981 (GRCm39) K520R probably damaging Het
Cd2ap T C 17: 43,116,054 (GRCm39) H602R possibly damaging Het
Cdkn2aip A G 8: 48,164,408 (GRCm39) V435A possibly damaging Het
Cenpf A T 1: 189,391,575 (GRCm39) Y735* probably null Het
Cep350 T A 1: 155,803,961 (GRCm39) I1041L probably benign Het
Ckap4 A G 10: 84,363,863 (GRCm39) V400A probably damaging Het
Comp T A 8: 70,829,854 (GRCm39) D359E probably benign Het
Coq10b A C 1: 55,100,500 (GRCm39) K61N probably benign Het
Csmd2 G A 4: 128,215,889 (GRCm39) S548N Het
Csmd2 A C 4: 128,215,888 (GRCm39) S548R Het
Ctif A G 18: 75,744,807 (GRCm39) I99T probably benign Het
Ctns T G 11: 73,083,903 (GRCm39) T40P possibly damaging Het
Cyp2c68 A T 19: 39,729,318 (GRCm39) N56K probably benign Het
D6Wsu163e A G 6: 126,938,968 (GRCm39) K401R probably damaging Het
Dstn T A 2: 143,780,368 (GRCm39) C23S probably benign Het
Fam72a A T 1: 131,466,613 (GRCm39) E132D probably damaging Het
Fam72a G T 1: 131,466,614 (GRCm39) E133* probably null Het
Gbp8 T A 5: 105,179,161 (GRCm39) I113F probably damaging Het
Gm3095 A T 14: 15,170,332 (GRCm39) R60S possibly damaging Het
Gpa33 A T 1: 165,980,263 (GRCm39) M109L probably damaging Het
Grik2 A G 10: 49,411,493 (GRCm39) L215P probably damaging Het
Gucy2g A C 19: 55,194,725 (GRCm39) F897L probably damaging Het
Hinfp A G 9: 44,209,314 (GRCm39) L295P probably damaging Het
Ift122 T C 6: 115,871,283 (GRCm39) V526A probably benign Het
Ighv5-12 T C 12: 113,665,853 (GRCm39) T82A probably benign Het
Il18rap T A 1: 40,564,111 (GRCm39) S76R probably benign Het
Itga6 A T 2: 71,683,897 (GRCm39) N1045I probably benign Het
Kctd21 A T 7: 96,996,970 (GRCm39) I148F possibly damaging Het
Kif28 T A 1: 179,567,644 (GRCm39) H42L probably benign Het
Kmt2c A C 5: 25,600,418 (GRCm39) C326W probably damaging Het
Knl1 T A 2: 118,925,707 (GRCm39) L1912* probably null Het
Lrfn1 A T 7: 28,158,947 (GRCm39) I289F probably damaging Het
Lrriq1 T C 10: 103,057,185 (GRCm39) K205R possibly damaging Het
Mbd5 A T 2: 49,147,566 (GRCm39) N592I probably damaging Het
Mbl2 A G 19: 30,216,802 (GRCm39) N205D possibly damaging Het
Mcm4 C A 16: 15,455,042 (GRCm39) M1I probably null Het
Mgat4a T A 1: 37,493,865 (GRCm39) H327L probably damaging Het
Miox A G 15: 89,219,206 (GRCm39) D16G probably benign Het
Mvk C A 5: 114,594,039 (GRCm39) P298Q possibly damaging Het
Nol6 A G 4: 41,118,699 (GRCm39) L726P probably damaging Het
Nos1 T C 5: 118,087,880 (GRCm39) I1381T probably benign Het
Nup98 A T 7: 101,784,144 (GRCm39) S1063T probably benign Het
Obscn T G 11: 58,886,275 (GRCm39) M7862L unknown Het
Obsl1 T C 1: 75,464,348 (GRCm39) T1653A probably benign Het
Odr4 A G 1: 150,262,107 (GRCm39) probably null Het
Or4c105 G T 2: 88,647,687 (GRCm39) M57I probably damaging Het
Or8g53 T A 9: 39,683,260 (GRCm39) T279S probably benign Het
Or8u9 A G 2: 86,001,546 (GRCm39) I205T probably benign Het
Or9q2 C T 19: 13,772,358 (GRCm39) V206I probably damaging Het
Pcdhb20 A G 18: 37,638,005 (GRCm39) Y177C probably benign Het
Pcdhb3 A C 18: 37,434,657 (GRCm39) I208L probably benign Het
Phlpp1 G T 1: 106,317,420 (GRCm39) G1214W probably damaging Het
Ppp4r3a A T 12: 101,025,053 (GRCm39) S149T possibly damaging Het
Pxdn T C 12: 30,052,438 (GRCm39) C872R probably damaging Het
Rarb A G 14: 16,548,419 (GRCm38) C101R probably damaging Het
Rcor3 A C 1: 191,812,283 (GRCm39) V114G probably benign Het
Rnpepl1 A G 1: 92,847,372 (GRCm39) Q653R probably benign Het
Rpap2 T A 5: 107,768,324 (GRCm39) Y387* probably null Het
Rttn C T 18: 89,004,035 (GRCm39) T343M possibly damaging Het
Samd11 T C 4: 156,333,230 (GRCm39) T333A probably benign Het
Six5 T C 7: 18,828,968 (GRCm39) L136P probably damaging Het
Slc12a5 T A 2: 164,824,852 (GRCm39) M419K probably benign Het
Slc22a21 T C 11: 53,851,226 (GRCm39) M179V probably benign Het
Slc35a4 A G 18: 36,813,570 (GRCm39) D6G unknown Het
Spdye4c A T 2: 128,434,261 (GRCm39) M1L probably benign Het
Svep1 A T 4: 58,069,699 (GRCm39) C2696S possibly damaging Het
Tceanc2 T C 4: 107,004,893 (GRCm39) N85S probably benign Het
Teddm2 G C 1: 153,726,344 (GRCm39) L124V probably benign Het
Teddm2 A T 1: 153,726,343 (GRCm39) L124Q probably damaging Het
Tgfbr1 T A 4: 47,405,623 (GRCm39) W409R probably damaging Het
Tkt A G 14: 30,280,755 (GRCm39) D62G probably damaging Het
Tnrc6b T A 15: 80,768,501 (GRCm39) V1054D probably damaging Het
Trpm7 C A 2: 126,641,126 (GRCm39) L1564F probably damaging Het
Vmn1r43 A T 6: 89,846,803 (GRCm39) C228S probably benign Het
Vmn2r106 T C 17: 20,487,883 (GRCm39) R839G probably damaging Het
Vmn2r5 G A 3: 64,403,176 (GRCm39) T523I probably benign Het
Vwa3b C T 1: 37,153,678 (GRCm39) Q507* probably null Het
Wrn C G 8: 33,738,994 (GRCm39) W1278S probably benign Het
Zfp281 T G 1: 136,553,190 (GRCm39) L56R probably damaging Het
Zfp407 G A 18: 84,579,661 (GRCm39) T484I probably benign Het
Zfp451 T C 1: 33,852,843 (GRCm39) T24A probably benign Het
Zfp607b T A 7: 27,392,919 (GRCm39) F16I probably damaging Het
Zfp638 T A 6: 83,905,670 (GRCm39) V41E possibly 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
R4459:Cyp11b1 UTSW 15 74,708,208 (GRCm39) missense probably damaging 0.98
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
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'- GCCCTATAACCTGTGGGAAG -3'
(R):5'- ACTAACAGCAGGGCTCTGTG -3'

Sequencing Primer
(F):5'- GCAAGTGCTATTTGGCCATC -3'
(R):5'- AGCAGGGCTCTGTGCTTCATC -3'
Posted On 2019-09-13