Mutagenetix > Incidental Mutation

Incidental Mutation 'R5822:Cyp11b1'

449999

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

044052-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.383) question?

Stock #

R5822 (G1)

Quality Score

170

Status

Validated

Chromosome

Chromosomal Location

74706741-74713492 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 74708670 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glycine at position 375 (R375G)

Ref Sequence

ENSEMBL: ENSMUSP00000127888 (fasta)

Gene Model

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

AlphaFold

Q3TG86

Predicted Effect

probably null
Transcript: ENSMUST00000170259
AA Change: R375G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000127888
Gene: ENSMUSG00000075604
AA Change: R375G

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

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.2%
20x: 94.8%

Validation Efficiency

96% (54/56)

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930553M12Rik	T	C	4: 88,786,596 (GRCm39)	I7M	unknown	Het
Abca8a	C	T	11: 109,921,705 (GRCm39)	E1450K	probably damaging	Het
B4galnt2	T	C	11: 95,756,985 (GRCm39)	Y482C	probably damaging	Het
Bud23	A	G	5: 135,092,775 (GRCm39)	F9L	probably damaging	Het
Cacna1s	A	T	1: 136,039,816 (GRCm39)	E1214V	probably damaging	Het
Cdh20	T	C	1: 104,861,823 (GRCm39)	M1T	probably null	Het
Chkb	T	C	15: 89,313,715 (GRCm39)	E30G	probably benign	Het
Crp	A	C	1: 172,525,635 (GRCm39)		probably benign	Het
Ddx11	C	T	17: 66,436,976 (GRCm39)	S90L	probably benign	Het
Flnc	A	C	6: 29,459,429 (GRCm39)	I2510L	probably damaging	Het
Ftdc1	C	A	16: 58,436,075 (GRCm39)		probably null	Het
Fyb1	T	A	15: 6,692,707 (GRCm39)		probably benign	Het
Gbp3	C	T	3: 142,272,239 (GRCm39)	P247L	probably benign	Het
Ggn	C	T	7: 28,871,981 (GRCm39)	P454S	probably damaging	Het
Herc1	T	A	9: 66,352,894 (GRCm39)	S2127T	probably benign	Het
Ipo11	A	G	13: 106,984,926 (GRCm39)		probably benign	Het
Kcnh7	G	A	2: 62,546,582 (GRCm39)	R1000W	probably benign	Het
Kdm5b	A	T	1: 134,516,511 (GRCm39)		probably benign	Het
Klc3	C	T	7: 19,129,724 (GRCm39)		probably null	Het
Lst1	A	T	17: 35,407,359 (GRCm39)	M3K	unknown	Het
Madd	C	T	2: 90,982,878 (GRCm39)	R1355Q	probably damaging	Het
Map3k10	A	G	7: 27,356,159 (GRCm39)	L920P	probably damaging	Het
Mdga2	A	G	12: 66,702,109 (GRCm39)	V423A	probably damaging	Het
Mogat2	T	C	7: 98,869,112 (GRCm39)	D302G	possibly damaging	Het
Nkapl	A	C	13: 21,652,593 (GRCm39)	S7A	unknown	Het
Npas2	A	G	1: 39,386,647 (GRCm39)	S639G	probably benign	Het
Nr1h5	T	G	3: 102,856,644 (GRCm39)	H260P	probably damaging	Het
Or2g25	T	C	17: 37,971,122 (GRCm39)	Y34C	probably damaging	Het
Or2t49	A	T	11: 58,392,464 (GRCm39)	L306Q	possibly damaging	Het
Or4c35	T	C	2: 89,808,787 (GRCm39)	S222P	probably damaging	Het
Or7a36	C	T	10: 78,820,023 (GRCm39)	T133I	possibly damaging	Het
Or8a1b	T	C	9: 37,623,087 (GRCm39)	M163V	probably benign	Het
Pan2	T	C	10: 128,156,249 (GRCm39)	L1142P	probably damaging	Het
Pdik1l	C	T	4: 134,014,474 (GRCm39)	E11K	possibly damaging	Het
Ppp1r15a	A	G	7: 45,172,727 (GRCm39)	V555A	probably damaging	Het
Ppp6c	G	A	2: 39,090,064 (GRCm39)	Q81*	probably null	Het
Pramel18	A	G	4: 101,767,440 (GRCm39)	M230V	probably damaging	Het
Ptprz1	A	T	6: 23,001,444 (GRCm39)	Y1178F	probably benign	Het
Relch	G	A	1: 105,646,581 (GRCm39)	V660M	probably damaging	Het
Rictor	G	A	15: 6,823,487 (GRCm39)	E1555K	probably benign	Het
Rims2	T	A	15: 39,339,886 (GRCm39)	L860Q	probably damaging	Het
Sdr39u1	A	G	14: 56,135,196 (GRCm39)	V249A	probably benign	Het
Serhl	T	C	15: 83,000,528 (GRCm39)	V305A	probably benign	Het
Slc5a11	T	C	7: 122,851,654 (GRCm39)	I201T	probably damaging	Het
Stk32a	A	T	18: 43,446,552 (GRCm39)	E334V	probably benign	Het
Tmem217	A	G	17: 29,745,529 (GRCm39)	L67P	probably damaging	Het
Tnnt1	A	T	7: 4,519,345 (GRCm39)	L12*	probably null	Het
Trim80	C	T	11: 115,338,747 (GRCm39)	R526C	probably damaging	Het
Unc5b	A	T	10: 60,608,306 (GRCm39)	F635I	possibly damaging	Het
Utp20	T	G	10: 88,653,147 (GRCm39)	N311T	probably benign	Het
Zfp276	A	G	8: 123,982,457 (GRCm39)	T74A	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
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
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'- AAAGGCTTCTCCTGTCCACATC -3'
(R):5'- CAATGTCCTTTGGCAGGGTG -3'

Sequencing Primer
(F):5'- TCCTGTCCACATCCACACC -3'
(R):5'- GAGATTGCTCTCTGGCTCCTG -3'

Posted On

2016-12-20