Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01982:Cyp11b1'

182766

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 #

IGL01982

Quality Score

Status

Chromosome

Chromosomal Location

74706741-74713492 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 74711252 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 142 (N142S)

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: N142S

PolyPhen 2 Score 0.688 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000127888
Gene: ENSMUSG00000075604
AA Change: N142S

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca12	A	C	1: 71,385,857 (GRCm39)	S254A	probably benign	Het
Abca7	T	G	10: 79,838,475 (GRCm39)	L583R	probably damaging	Het
Acp1	A	T	12: 30,961,491 (GRCm39)	L14H	possibly damaging	Het
Adar	A	G	3: 89,645,397 (GRCm39)	I3V	probably benign	Het
Adh4	C	T	3: 138,134,788 (GRCm39)		probably benign	Het
Aldh1l1	A	G	6: 90,536,845 (GRCm39)	I103V	probably benign	Het
Asic3	C	A	5: 24,622,719 (GRCm39)	T523N	probably benign	Het
Aspm	T	C	1: 139,419,326 (GRCm39)	V1732A	probably benign	Het
Atad3a	C	T	4: 155,838,384 (GRCm39)	R211Q	possibly damaging	Het
Bahcc1	A	G	11: 120,178,299 (GRCm39)	Y2286C	probably damaging	Het
BC034090	T	C	1: 155,099,078 (GRCm39)	E569G	probably damaging	Het
Bpifb3	A	G	2: 153,767,521 (GRCm39)	N237S	probably benign	Het
Bysl	C	A	17: 47,921,996 (GRCm39)		probably null	Het
C2cd6	T	C	1: 59,106,932 (GRCm39)		probably benign	Het
Ccdc141	A	G	2: 76,861,003 (GRCm39)	F925L	probably damaging	Het
Cdca2	A	T	14: 67,915,168 (GRCm39)	V697E	probably damaging	Het
Cers1	A	G	8: 70,776,081 (GRCm39)	D324G	probably damaging	Het
Ctsq	T	A	13: 61,186,732 (GRCm39)	I91F	probably benign	Het
Ctsq	C	T	13: 61,187,335 (GRCm39)	C11Y	probably benign	Het
Cyp3a59	G	T	5: 146,041,545 (GRCm39)	S363I	probably benign	Het
Eps15l1	A	T	8: 73,132,919 (GRCm39)	D567E	probably benign	Het
Esf1	G	A	2: 140,006,448 (GRCm39)	A233V	probably benign	Het
Fras1	A	T	5: 96,887,107 (GRCm39)	I2630F	possibly damaging	Het
Fyb1	A	T	15: 6,609,658 (GRCm39)	E77V	probably null	Het
Gjb6	C	A	14: 57,362,030 (GRCm39)	W77L	probably damaging	Het
Gm21983	A	G	7: 26,879,703 (GRCm39)	V88A	possibly damaging	Het
Gm8247	A	G	14: 44,823,088 (GRCm39)	T52A	probably damaging	Het
Gpr108	T	C	17: 57,544,877 (GRCm39)	K329E	probably damaging	Het
Gpr141	T	A	13: 19,935,908 (GRCm39)	H289L	probably benign	Het
Ilvbl	T	C	10: 78,414,856 (GRCm39)	Y240H	probably damaging	Het
Kntc1	G	A	5: 123,947,159 (GRCm39)	A1868T	probably benign	Het
Lrmda	A	C	14: 22,634,550 (GRCm39)	N112T	probably damaging	Het
Ly75	T	C	2: 60,142,108 (GRCm39)	Y1334C	probably damaging	Het
Macc1	C	A	12: 119,409,369 (GRCm39)	P46T	probably benign	Het
Madd	A	T	2: 91,006,052 (GRCm39)	F381Y	probably damaging	Het
Map3k20	C	T	2: 72,128,677 (GRCm39)	Q38*	probably null	Het
Mcm4	A	T	16: 15,448,284 (GRCm39)	D424E	possibly damaging	Het
Micu1	T	A	10: 59,699,100 (GRCm39)	M463K	possibly damaging	Het
Mkrn2os	A	G	6: 115,562,492 (GRCm39)	L157P	probably damaging	Het
Nectin2	A	G	7: 19,451,487 (GRCm39)	S516P	probably damaging	Het
Nme5	T	A	18: 34,702,928 (GRCm39)	D120V	probably damaging	Het
Npy4r	T	C	14: 33,869,282 (GRCm39)	N2S	possibly damaging	Het
Nup107	A	T	10: 117,595,245 (GRCm39)		probably benign	Het
Omd	T	C	13: 49,742,973 (GRCm39)	Y8H	possibly damaging	Het
Phf8-ps	T	G	17: 33,285,289 (GRCm39)	E504D	probably benign	Het
Ppp1r15a	T	C	7: 45,173,803 (GRCm39)		probably benign	Het
Ppp2ca	T	C	11: 51,989,891 (GRCm39)	F6L	probably benign	Het
Rab1a	T	C	11: 20,174,717 (GRCm39)	S97P	probably benign	Het
Ranbp3l	G	A	15: 9,058,827 (GRCm39)	G359R	probably damaging	Het
Rnf213	A	T	11: 119,334,094 (GRCm39)	H3101L	probably damaging	Het
Slc27a4	T	C	2: 29,702,627 (GRCm39)	F509S	probably damaging	Het
Slco4a1	T	C	2: 180,114,946 (GRCm39)	V623A	probably benign	Het
Spart	T	A	3: 55,035,911 (GRCm39)		probably null	Het
Sptan1	A	G	2: 29,909,980 (GRCm39)	D1780G	probably damaging	Het
Tgm7	G	T	2: 120,924,106 (GRCm39)	Y605*	probably null	Het
Tmem106b	T	C	6: 13,071,968 (GRCm39)		probably benign	Het
Trak2	G	A	1: 58,965,814 (GRCm39)	A120V	possibly damaging	Het
Trappc8	G	A	18: 21,007,769 (GRCm39)		probably benign	Het
Trim66	T	C	7: 109,057,970 (GRCm39)	T973A	probably benign	Het
Ttyh3	C	A	5: 140,621,829 (GRCm39)		probably benign	Het
Ugt2b37	A	C	5: 87,390,291 (GRCm39)	I385S	probably damaging	Het
Usf3	A	G	16: 44,039,180 (GRCm39)	N1220S	possibly damaging	Het
Utrn	A	T	10: 12,623,773 (GRCm39)	I155N	probably damaging	Het
Vps13b	C	T	15: 35,439,050 (GRCm39)	Q377*	probably null	Het
Washc2	A	T	6: 116,213,150 (GRCm39)	E570D	probably benign	Het
Wscd1	T	C	11: 71,657,699 (GRCm39)	V168A	possibly damaging	Het
Zfp386	T	A	12: 116,022,788 (GRCm39)	C169S	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
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
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

2014-05-07