Mutagenetix > Incidental Mutation

Incidental Mutation 'R7699:Cyp11b1'

593887

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

045760-MU

Accession Numbers

Essential gene?

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

Stock #

R7699 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

74706741-74713492 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 74707691 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 473 (T473S)

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: T473S

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000127888
Gene: ENSMUSG00000075604
AA Change: T473S

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

0.2794

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

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: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810009A15Rik	T	C	19: 8,867,417 (GRCm39)	L72P	probably benign	Het
4930407I10Rik	C	A	15: 81,948,306 (GRCm39)	H734Q	probably benign	Het
Acadl	A	G	1: 66,877,522 (GRCm39)	V343A	possibly damaging	Het
Acot4	A	T	12: 84,090,011 (GRCm39)	D236V	probably damaging	Het
App	T	A	16: 84,837,197 (GRCm39)		probably null	Het
Arfgef1	G	A	1: 10,264,636 (GRCm39)	T470I	possibly damaging	Het
Arhgef5	T	C	6: 43,251,691 (GRCm39)	I814T	probably benign	Het
Atr	A	T	9: 95,757,743 (GRCm39)	R968*	probably null	Het
Bltp1	T	A	3: 37,028,321 (GRCm39)	N2329K	possibly damaging	Het
Bltp1	C	T	3: 37,080,303 (GRCm39)	S267L	probably benign	Het
Capn7	C	T	14: 31,074,401 (GRCm39)	T268I	probably benign	Het
Ccn1	C	T	3: 145,354,447 (GRCm39)	G155R	probably damaging	Het
Cubn	A	T	2: 13,352,989 (GRCm39)	F1916L	probably benign	Het
Cubn	A	G	2: 13,494,728 (GRCm39)	V107A	possibly damaging	Het
Dip2c	T	G	13: 9,709,347 (GRCm39)	S1396A	probably benign	Het
Dyrk1b	T	C	7: 27,883,737 (GRCm39)	Y198H	probably damaging	Het
Echdc2	G	T	4: 108,031,274 (GRCm39)	R206L	probably benign	Het
Ep400	C	T	5: 110,843,898 (GRCm39)	R1594Q	unknown	Het
Fmnl2	G	A	2: 52,926,520 (GRCm39)	R69Q		Het
Fry	T	A	5: 150,328,792 (GRCm39)	H1308Q	probably damaging	Het
Fyb2	T	A	4: 104,867,651 (GRCm39)	D667E	probably benign	Het
Gimap7	T	A	6: 48,700,791 (GRCm39)	Y126N	possibly damaging	Het
Gm1979	A	T	5: 26,205,178 (GRCm39)	W266R	probably damaging	Het
Gm28042	T	A	2: 119,870,197 (GRCm39)	M712K	possibly damaging	Het
Gm3238	A	G	10: 77,606,469 (GRCm39)	*231R	probably null	Het
Gm5592	C	A	7: 40,935,831 (GRCm39)	A111E	probably damaging	Het
Gm7694	A	G	1: 170,128,717 (GRCm39)	*271Q	probably null	Het
Ift81	T	C	5: 122,732,623 (GRCm39)	M304V	possibly damaging	Het
Igfals	T	C	17: 25,099,548 (GRCm39)	L213P	probably damaging	Het
Ints3	G	A	3: 90,329,111 (GRCm39)	P83S	probably benign	Het
Kcna10	T	G	3: 107,102,856 (GRCm39)	S496A	probably damaging	Het
Kmt2d	G	A	15: 98,741,600 (GRCm39)	A4520V	unknown	Het
Lemd3	A	T	10: 120,813,995 (GRCm39)	Y413N	probably damaging	Het
Lgr6	T	C	1: 134,923,770 (GRCm39)	N453S	probably damaging	Het
Lmtk3	A	C	7: 45,441,998 (GRCm39)	D352A	probably damaging	Het
Lrrc4c	T	C	2: 97,461,024 (GRCm39)	M550T	possibly damaging	Het
Maml2	A	T	9: 13,532,385 (GRCm39)	Q533L		Het
Mdn1	T	A	4: 32,741,344 (GRCm39)	D3815E	probably damaging	Het
Megf8	C	T	7: 25,029,353 (GRCm39)	A299V	possibly damaging	Het
Meis3	G	T	7: 15,911,481 (GRCm39)	E59D	probably benign	Het
Mppe1	A	G	18: 67,358,775 (GRCm39)	*398R	probably null	Het
Mtmr7	G	A	8: 41,059,927 (GRCm39)	A62V	possibly damaging	Het
Mtus1	T	A	8: 41,537,006 (GRCm39)	T237S	possibly damaging	Het
Ndfip2	T	A	14: 105,525,193 (GRCm39)	V158E	possibly damaging	Het
Nrbp2	T	G	15: 75,962,746 (GRCm39)	T53P	probably damaging	Het
Nrde2	G	A	12: 100,097,094 (GRCm39)	P902L	probably benign	Het
Or10ab5	T	A	7: 108,244,879 (GRCm39)	K301N	probably damaging	Het
Or11g24	T	A	14: 50,662,792 (GRCm39)	M272K	probably benign	Het
Or2y13	A	G	11: 49,415,381 (GRCm39)	Y277C	probably damaging	Het
Or51a10	T	A	7: 103,699,800 (GRCm39)		probably benign	Het
Or6c202	T	C	10: 128,995,924 (GRCm39)	M310V	probably benign	Het
Pcdha1	A	G	18: 37,064,115 (GRCm39)	T260A	probably damaging	Het
Pdlim1	T	G	19: 40,238,102 (GRCm39)	K98N	probably damaging	Het
Phrf1	G	A	7: 140,834,842 (GRCm39)	G207R	unknown	Het
Pik3r6	A	G	11: 68,419,389 (GRCm39)	K124R	probably damaging	Het
Polr2b	T	A	5: 77,488,268 (GRCm39)	F823I	probably benign	Het
Prss58	T	C	6: 40,872,322 (GRCm39)	I234V	probably damaging	Het
Ptpn14	A	T	1: 189,597,608 (GRCm39)	N766I	probably benign	Het
Qrfprl	T	A	6: 65,429,940 (GRCm39)	I212N	probably benign	Het
Repin1	T	A	6: 48,574,756 (GRCm39)	S562T	probably damaging	Het
Rgr	C	T	14: 36,766,552 (GRCm39)	D165N	probably damaging	Het
Rho	T	C	6: 115,912,200 (GRCm39)	F221L	probably damaging	Het
Rictor	C	T	15: 6,801,635 (GRCm39)	S441L	probably benign	Het
Rnase2a	A	G	14: 51,493,248 (GRCm39)	I39T	probably damaging	Het
Rpl13a	T	G	7: 44,776,660 (GRCm39)	I43L	probably benign	Het
Rpp30	T	C	19: 36,066,558 (GRCm39)	V97A	probably benign	Het
Scube3	T	C	17: 28,386,023 (GRCm39)	Y755H	probably damaging	Het
Sec24a	A	T	11: 51,603,084 (GRCm39)	V788E	probably damaging	Het
Spns2	A	T	11: 72,380,443 (GRCm39)	L60*	probably null	Het
Strc	T	C	2: 121,202,229 (GRCm39)	N1213S	possibly damaging	Het
Tec	A	T	5: 72,943,367 (GRCm39)	I116N	possibly damaging	Het
Tll1	A	T	8: 64,546,988 (GRCm39)	D319E	probably benign	Het
Tmem121b	T	C	6: 120,470,388 (GRCm39)	T110A	unknown	Het
Tmem232	T	A	17: 65,572,213 (GRCm39)	I593F	probably damaging	Het
Tpp2	A	G	1: 44,009,626 (GRCm39)	I487V	probably benign	Het
Ubr4	C	A	4: 139,136,178 (GRCm39)	C934*	probably null	Het
Vmn1r68	A	G	7: 10,261,559 (GRCm39)	Y180H	probably benign	Het
Vmn2r25	T	C	6: 123,816,882 (GRCm39)	D233G	possibly damaging	Het
Wdr6	A	G	9: 108,453,560 (GRCm39)	W108R	possibly damaging	Het
Zng1	A	G	19: 24,920,045 (GRCm39)		probably null	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
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
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'- CCACAGGCATAGCACTCTAAGG -3'
(R):5'- GGATGGAACCTGCACAGTAG -3'

Sequencing Primer
(F):5'- GAAGAGAAGAGAGGGCAATGTGTC -3'
(R):5'- GCTGAGCCAAGATAGGTCTTTAG -3'

Posted On

2019-11-12