Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02836:Cyp26c1'

361654

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Cyp26c1

Ensembl Gene

ENSMUSG00000062432

Gene Name

cytochrome P450, family 26, subfamily c, polypeptide 1

Synonyms

EG546726

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02836

Quality Score

Status

Chromosome

Chromosomal Location

37674029-37681846 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 37675604 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Leucine at position 156 (Q156L)

Ref Sequence

ENSEMBL: ENSMUSP00000073105 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000066439] [ENSMUST00000073391]

AlphaFold

B2RXA7

Predicted Effect

probably benign
Transcript: ENSMUST00000066439

SMART Domains

Protein: ENSMUSP00000064332
Gene: ENSMUSG00000053799

Domain	Start	End	E-Value	Type
low complexity region	265	273	N/A	INTRINSIC
Pfam:Sec15	456	762	8.1e-109	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000073391
AA Change: Q156L

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000073105
Gene: ENSMUSG00000062432
AA Change: Q156L

Domain	Start	End	E-Value	Type
transmembrane domain	7	29	N/A	INTRINSIC
Pfam:p450	50	499	6.4e-54	PFAM

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 enzyme is involved in the catabolism of all-trans- and 9-cis-retinoic acid, and thus contributes to the regulation of retinoic acid levels in cells and tissues. This gene is adjacent to a related gene on chromosome 10q23.33. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele are viable and exhibit normal CNS development with no apparent anatomical defects. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl4	T	A	4: 144,349,782 (GRCm39)	N346K	possibly damaging	Het
Abca15	A	G	7: 119,987,439 (GRCm39)	M1242V	probably benign	Het
Abca6	T	A	11: 110,139,374 (GRCm39)	E33D	probably damaging	Het
Abca8a	T	C	11: 109,961,177 (GRCm39)	K582E	possibly damaging	Het
Abcb6	A	G	1: 75,154,646 (GRCm39)	L263P	probably damaging	Het
Adamts2	A	C	11: 50,678,106 (GRCm39)	E795A	probably damaging	Het
Avil	T	A	10: 126,844,864 (GRCm39)	I292N	probably damaging	Het
Cd300ld2	T	C	11: 114,904,576 (GRCm39)	D97G	probably benign	Het
Cfh	A	C	1: 140,030,137 (GRCm39)	I912R	probably damaging	Het
Dhx57	T	C	17: 80,574,978 (GRCm39)	I614V	probably damaging	Het
Dip2c	T	A	13: 9,660,826 (GRCm39)	S896T	probably damaging	Het
Dmtn	G	T	14: 70,853,518 (GRCm39)	P97Q	probably damaging	Het
Dock6	A	T	9: 21,713,160 (GRCm39)	V1931E	probably damaging	Het
Dpep2	C	A	8: 106,717,227 (GRCm39)		probably null	Het
Dsg1c	T	A	18: 20,400,986 (GRCm39)	L163Q	probably benign	Het
Esyt3	A	G	9: 99,202,960 (GRCm39)		probably benign	Het
Fcgbp	T	A	7: 27,816,783 (GRCm39)	I2415N	possibly damaging	Het
Fpr-rs6	T	C	17: 20,403,307 (GRCm39)	D18G	probably benign	Het
Fras1	T	C	5: 96,682,725 (GRCm39)	V74A	possibly damaging	Het
Frem3	T	C	8: 81,341,010 (GRCm39)	V1101A	probably benign	Het
Fut8	T	A	12: 77,496,987 (GRCm39)	V399E	probably benign	Het
Galntl5	G	T	5: 25,391,237 (GRCm39)	K45N	probably benign	Het
Gbe1	A	G	16: 70,357,983 (GRCm39)	Y669C	possibly damaging	Het
Gcnt1	T	C	19: 17,307,493 (GRCm39)	I77M	probably benign	Het
Itprid1	T	A	6: 55,875,075 (GRCm39)	W342R	probably damaging	Het
Mark2	A	G	19: 7,255,405 (GRCm39)		probably null	Het
Muc2	A	T	7: 141,300,450 (GRCm39)		probably benign	Het
Nacc2	C	T	2: 25,980,329 (GRCm39)	V36I	probably damaging	Het
Nphp1	T	C	2: 127,611,543 (GRCm39)	I268V	probably benign	Het
Oosp3	A	G	19: 11,678,332 (GRCm39)	I5V	probably benign	Het
Or9m1	T	G	2: 87,733,724 (GRCm39)	T99P	possibly damaging	Het
Pex7	A	G	10: 19,769,990 (GRCm39)		probably benign	Het
Prr14l	T	C	5: 32,988,440 (GRCm39)	K352E	probably benign	Het
Rheb	T	A	5: 25,008,709 (GRCm39)	I170F	probably benign	Het
Rpgrip1	A	G	14: 52,382,714 (GRCm39)		probably null	Het
Rps2	T	A	17: 24,939,650 (GRCm39)	L107Q	probably damaging	Het
Rrp1	A	T	10: 78,240,874 (GRCm39)		probably benign	Het
Rtcb	A	T	10: 85,779,806 (GRCm39)	V288D	possibly damaging	Het
Sec14l3	T	C	11: 4,020,084 (GRCm39)	F174L	probably benign	Het
Slc28a1	G	A	7: 80,775,909 (GRCm39)	V202M	probably damaging	Het
Slc44a3	A	T	3: 121,325,366 (GRCm39)	C32S	probably damaging	Het
Syne1	G	A	10: 5,359,875 (GRCm39)		probably benign	Het
Synrg	C	A	11: 83,892,804 (GRCm39)		probably benign	Het
Tmem219	A	T	7: 126,488,121 (GRCm39)	F265I	probably benign	Het
Tmem94	T	C	11: 115,683,765 (GRCm39)	I726T	probably damaging	Het
Trim37	T	C	11: 87,087,785 (GRCm39)	M632T	probably benign	Het
Trpm6	A	T	19: 18,790,846 (GRCm39)	Q627L	probably damaging	Het
Uvrag	A	G	7: 98,628,984 (GRCm39)	V361A	possibly damaging	Het
Yipf3	C	A	17: 46,562,520 (GRCm39)	N308K	possibly damaging	Het
Zfp438	A	G	18: 5,245,427 (GRCm39)		probably benign	Het
Zmiz1	T	A	14: 25,657,166 (GRCm39)		probably benign	Het
Zranb3	A	G	1: 127,888,562 (GRCm39)	V841A	probably benign	Het

Other mutations in Cyp26c1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02008:Cyp26c1	APN	19	37,677,372 (GRCm39)	missense	probably damaging	1.00
IGL02008:Cyp26c1	APN	19	37,677,371 (GRCm39)	missense	probably damaging	1.00
IGL02713:Cyp26c1	APN	19	37,681,667 (GRCm39)	missense	probably damaging	1.00
R0114:Cyp26c1	UTSW	19	37,675,081 (GRCm39)	missense	probably benign	0.24
R0671:Cyp26c1	UTSW	19	37,675,009 (GRCm39)	missense	probably damaging	1.00
R1544:Cyp26c1	UTSW	19	37,679,393 (GRCm39)	missense	probably benign	0.03
R1959:Cyp26c1	UTSW	19	37,675,825 (GRCm39)	missense	probably damaging	0.99
R1961:Cyp26c1	UTSW	19	37,675,825 (GRCm39)	missense	probably damaging	0.99
R4393:Cyp26c1	UTSW	19	37,675,105 (GRCm39)	missense	probably damaging	1.00
R4488:Cyp26c1	UTSW	19	37,681,658 (GRCm39)	missense	probably benign
R4532:Cyp26c1	UTSW	19	37,674,227 (GRCm39)	missense	probably damaging	1.00
R4687:Cyp26c1	UTSW	19	37,681,385 (GRCm39)	missense	probably damaging	1.00
R6302:Cyp26c1	UTSW	19	37,674,936 (GRCm39)	missense	probably damaging	1.00
R7334:Cyp26c1	UTSW	19	37,677,323 (GRCm39)	missense	probably benign
R7634:Cyp26c1	UTSW	19	37,681,447 (GRCm39)	missense	probably damaging	1.00
R8375:Cyp26c1	UTSW	19	37,675,660 (GRCm39)	missense	probably benign	0.19
R8681:Cyp26c1	UTSW	19	37,675,065 (GRCm39)	missense	probably damaging	0.99
R9014:Cyp26c1	UTSW	19	37,675,844 (GRCm39)	critical splice donor site	probably null
R9462:Cyp26c1	UTSW	19	37,681,634 (GRCm39)	missense	probably damaging	0.97

Posted On

2015-12-18