Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02937:Cyp11b1'

364387

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Cyp11b1

Ensembl Gene

ENSMUSG00000075604

Gene Name

cytochrome P450, family 11, subfamily b, polypeptide 1

Synonyms

Cyp11b-1, Cyp11b

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.323) question?

Stock #

IGL02937

Quality Score

Status

Chromosome

Chromosomal Location

74706741-74713492 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 74708408 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glycine at position 385 (R385G)

Ref Sequence

ENSEMBL: ENSMUSP00000127888 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000170259] [ENSMUST00000188180]

AlphaFold

Q3TG86

Predicted Effect

possibly damaging
Transcript: ENSMUST00000170259
AA Change: R385G

PolyPhen 2 Score 0.810 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000127888
Gene: ENSMUSG00000075604
AA Change: R385G

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
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: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931406C07Rik	C	T	9: 15,206,049 (GRCm39)	C21Y	probably damaging	Het
4933427D06Rik	T	C	6: 89,085,127 (GRCm39)		noncoding transcript	Het
5730480H06Rik	A	G	5: 48,536,783 (GRCm39)	I160V	probably benign	Het
Arhgap29	G	A	3: 121,767,698 (GRCm39)	E47K	probably damaging	Het
Arhgef12	T	A	9: 42,927,216 (GRCm39)	S303C	probably damaging	Het
Bap1	A	G	14: 30,980,284 (GRCm39)	N644S	probably benign	Het
Cc2d1b	A	G	4: 108,489,091 (GRCm39)	E796G	probably damaging	Het
Cfh	C	A	1: 140,033,180 (GRCm39)	R788L	probably benign	Het
Cldn1	A	G	16: 26,179,623 (GRCm39)	F148S	probably damaging	Het
Cryzl1	A	G	16: 91,487,619 (GRCm39)	M292T	possibly damaging	Het
Cyp4f37	T	C	17: 32,844,163 (GRCm39)	L89P	probably benign	Het
Dach1	A	G	14: 98,153,231 (GRCm39)		probably null	Het
Dhtkd1	A	G	2: 5,922,716 (GRCm39)	I481T	possibly damaging	Het
Dlx5	A	T	6: 6,881,755 (GRCm39)	D44E	probably damaging	Het
Dsg1a	T	A	18: 20,464,591 (GRCm39)	I362N	possibly damaging	Het
Ecm2	T	A	13: 49,671,952 (GRCm39)	I151N	probably damaging	Het
Far1	T	A	7: 113,139,855 (GRCm39)	I101N	probably damaging	Het
Gm21985	T	C	2: 112,172,207 (GRCm39)	S384P	probably benign	Het
Gnb5	T	C	9: 75,247,471 (GRCm39)	Y247H	probably damaging	Het
Golgb1	A	G	16: 36,736,572 (GRCm39)	K1940E	probably damaging	Het
Gprc5b	A	G	7: 118,583,017 (GRCm39)	V284A	probably benign	Het
Idh2	T	C	7: 79,748,661 (GRCm39)	Y179C	probably damaging	Het
Kalrn	G	A	16: 34,040,500 (GRCm39)	Q737*	probably null	Het
Kcnj13	T	C	1: 87,314,175 (GRCm39)	D349G	probably damaging	Het
Lgsn	A	T	1: 31,243,318 (GRCm39)	T467S	possibly damaging	Het
Map9	T	A	3: 82,270,819 (GRCm39)	S128T	possibly damaging	Het
Mroh5	A	G	15: 73,661,827 (GRCm39)	C455R	probably damaging	Het
Nes	A	G	3: 87,887,186 (GRCm39)	H1771R	probably benign	Het
Nkain2	T	C	10: 32,205,840 (GRCm39)	Y65C	probably damaging	Het
Or51a43	T	A	7: 103,718,056 (GRCm39)	M61L	probably damaging	Het
Or51b6b	A	T	7: 103,310,112 (GRCm39)	V115D	probably damaging	Het
Or6aa1	T	C	7: 86,043,798 (GRCm39)	K303E	possibly damaging	Het
Pabpc4l	A	C	3: 46,400,725 (GRCm39)	D306E	probably benign	Het
Parp12	A	T	6: 39,079,515 (GRCm39)	Y332N	probably damaging	Het
Parvb	A	T	15: 84,193,154 (GRCm39)	K316M	probably damaging	Het
Pde8a	T	A	7: 80,945,519 (GRCm39)		probably benign	Het
Polq	A	G	16: 36,833,471 (GRCm39)	T55A	probably benign	Het
Ppp2r5b	T	A	19: 6,281,016 (GRCm39)	K271M	probably damaging	Het
Ralgapb	A	G	2: 158,334,936 (GRCm39)		probably null	Het
Rigi	C	T	4: 40,229,661 (GRCm39)	C86Y	probably benign	Het
Skap2	T	C	6: 51,886,351 (GRCm39)	N175D	probably benign	Het
Slc44a3	A	G	3: 121,303,970 (GRCm39)		probably benign	Het
Smurf2	G	A	11: 106,736,873 (GRCm39)	H318Y	probably damaging	Het
Tbc1d23	T	C	16: 57,004,778 (GRCm39)	T460A	possibly damaging	Het
Tcerg1	T	C	18: 42,657,414 (GRCm39)	S299P	unknown	Het
Tll1	A	C	8: 64,658,319 (GRCm39)	Y33*	probably null	Het
Tmem59	A	T	4: 107,054,782 (GRCm39)	T196S	probably damaging	Het
Ttll4	C	A	1: 74,718,662 (GRCm39)	A171D	possibly damaging	Het
Ttn	T	C	2: 76,641,513 (GRCm39)	T13528A	possibly damaging	Het
Ttn	A	G	2: 76,717,621 (GRCm39)		probably benign	Het
Xpc	C	A	6: 91,477,119 (GRCm39)	G327W	probably damaging	Het
Zbtb7a	A	G	10: 80,980,132 (GRCm39)	S109G	probably benign	Het
Zfyve26	T	C	12: 79,285,794 (GRCm39)	M2328V	probably benign	Het

Other mutations in Cyp11b1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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
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

Posted On

2015-12-18