Incidental Mutation 'IGL02156:Cyp11b1'
ID282229
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cyp11b1
Ensembl Gene ENSMUSG00000075604
Gene Namecytochrome P450, family 11, subfamily b, polypeptide 1
SynonymsCyp11b-1, Cyp11b
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.297) question?
Stock #IGL02156
Quality Score
Status
Chromosome15
Chromosomal Location74834125-74841643 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 74835797 bp
ZygosityHeterozygous
Amino Acid Change Methionine to Leucine at position 488 (M488L)
Ref Sequence ENSEMBL: ENSMUSP00000127888 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000170259] [ENSMUST00000188180]
Predicted Effect probably benign
Transcript: ENSMUST00000170259
AA Change: M488L

PolyPhen 2 Score 0.255 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000127888
Gene: ENSMUSG00000075604
AA Change: M488L

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
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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930408O17Rik G A 12: 104,871,307 noncoding transcript Het
Adam33 G A 2: 131,053,158 probably benign Het
Akr7a5 C A 4: 139,314,269 A163D probably damaging Het
Arap1 T C 7: 101,388,730 probably benign Het
Arhgap8 A G 15: 84,770,035 I306V possibly damaging Het
Asf1a C T 10: 53,606,143 A17V probably benign Het
Atp1a4 A T 1: 172,257,962 S25T probably benign Het
BC030867 C T 11: 102,255,039 S47F probably damaging Het
Cbln4 T C 2: 172,042,208 I31V probably benign Het
Ccdc93 T G 1: 121,448,276 L172R possibly damaging Het
Ceacam9 T C 7: 16,723,619 probably benign Het
Crhr1 C A 11: 104,163,883 N107K probably benign Het
Dnah7a A G 1: 53,419,723 V3752A probably benign Het
Dnhd1 G A 7: 105,721,744 V4744M probably damaging Het
Dstyk C A 1: 132,449,926 N423K probably benign Het
Exph5 T C 9: 53,375,641 S1341P probably damaging Het
Fam161b T C 12: 84,354,753 H409R probably benign Het
Fbxo21 A G 5: 117,994,668 probably benign Het
Flt1 A G 5: 147,681,741 I230T probably damaging Het
Gm9931 T C 1: 147,281,628 noncoding transcript Het
Grk6 T C 13: 55,449,361 F36L possibly damaging Het
Grm1 G T 10: 10,719,976 A636D probably damaging Het
Hectd1 A T 12: 51,754,133 probably benign Het
Hltf G A 3: 20,092,807 V577I possibly damaging Het
Lrrc8c A G 5: 105,607,493 D378G probably damaging Het
Mcoln1 C A 8: 3,512,657 S6* probably null Het
Meis1 A T 11: 19,011,292 S194T probably benign Het
Myo1h A C 5: 114,353,911 probably benign Het
Nop9 T A 14: 55,753,283 C557* probably null Het
Nrap T C 19: 56,321,000 D1619G probably damaging Het
Olfr1314 A T 2: 112,092,016 H228Q probably benign Het
Olfr854 A G 9: 19,567,198 M59T probably damaging Het
Olfr934 T A 9: 38,982,546 Y166F possibly damaging Het
Pard3b T A 1: 61,767,950 D41E possibly damaging Het
Parp14 G T 16: 35,858,597 Q334K probably benign Het
Phf3 A T 1: 30,808,778 I1228K probably damaging Het
Polr1b T A 2: 129,123,879 F814I probably benign Het
Rsph1 T G 17: 31,258,116 S282R probably benign Het
Son T C 16: 91,656,104 S580P possibly damaging Het
Sptbn5 G T 2: 120,047,617 probably benign Het
Ssr2 T A 3: 88,583,788 probably null Het
Tfpt A G 7: 3,629,040 S24P probably damaging Het
Tg A G 15: 66,705,348 T1507A probably benign Het
Trpm7 A G 2: 126,799,243 probably benign Het
Wwox G A 8: 114,448,159 probably null Het
Ythdf2 C T 4: 132,204,508 R447H possibly damaging Het
Zfp385c A G 11: 100,629,019 F368S probably damaging Het
Zfp488 A G 14: 33,970,400 S269P possibly damaging Het
Zhx1 A C 15: 58,054,049 V267G possibly damaging Het
Other mutations in Cyp11b1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00542:Cyp11b1 APN 15 74835853 unclassified probably null
IGL01154:Cyp11b1 APN 15 74838534 missense probably benign
IGL01982:Cyp11b1 APN 15 74839403 missense possibly damaging 0.69
IGL02424:Cyp11b1 APN 15 74839236 missense probably benign 0.23
IGL02937:Cyp11b1 APN 15 74836559 missense possibly damaging 0.81
IGL03080:Cyp11b1 APN 15 74839436 splice site probably null
IGL03101:Cyp11b1 APN 15 74835854 missense probably benign 0.39
R1230:Cyp11b1 UTSW 15 74840942 missense probably benign 0.01
R1699:Cyp11b1 UTSW 15 74840817 missense possibly damaging 0.89
R1755:Cyp11b1 UTSW 15 74838534 missense probably benign
R2913:Cyp11b1 UTSW 15 74836421 missense probably damaging 0.99
R4361:Cyp11b1 UTSW 15 74839016 missense possibly damaging 0.87
R4459:Cyp11b1 UTSW 15 74836359 missense probably damaging 0.98
R5822:Cyp11b1 UTSW 15 74836821 missense probably null 1.00
R6921:Cyp11b1 UTSW 15 74840949 missense probably benign 0.00
R7214:Cyp11b1 UTSW 15 74836859 missense probably benign 0.00
R7402:Cyp11b1 UTSW 15 74840825 missense probably damaging 0.96
R7575:Cyp11b1 UTSW 15 74839313 missense probably benign 0.01
R7689:Cyp11b1 UTSW 15 74839048 missense probably benign 0.01
R7699:Cyp11b1 UTSW 15 74835842 missense probably damaging 1.00
R7700:Cyp11b1 UTSW 15 74835842 missense probably damaging 1.00
X0064:Cyp11b1 UTSW 15 74841587 missense probably benign 0.11
Posted On2015-04-16