Mutagenetix > Incidental Mutation

Incidental Mutation 'R6302:Cyp26c1'

509320

Institutional Source

Beutler Lab

Gene Symbol

Cyp26c1

Ensembl Gene

ENSMUSG00000062432

Gene Name

cytochrome P450, family 26, subfamily c, polypeptide 1

Synonyms

EG546726

MMRRC Submission

044467-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6302 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

37674029-37681846 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 37674936 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 86 (T86A)

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 damaging
Transcript: ENSMUST00000073391
AA Change: T86A

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

SMART Domains

Protein: ENSMUSP00000073105
Gene: ENSMUSG00000062432
AA Change: T86A

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl4fm4	G	T	4: 144,396,760 (GRCm39)	S324*	probably null	Het
Actl11	T	G	9: 107,806,772 (GRCm39)	V365G	probably benign	Het
Adgrg6	T	A	10: 14,317,227 (GRCm39)	D531V	probably benign	Het
Ankrd11	A	G	8: 123,616,728 (GRCm39)	S2354P	probably benign	Het
Ano9	A	T	7: 140,684,221 (GRCm39)	W514R	probably damaging	Het
Arfgef3	A	T	10: 18,528,589 (GRCm39)	V266E	probably damaging	Het
Bahcc1	T	C	11: 120,167,634 (GRCm39)	I1345T	probably damaging	Het
Bpifb4	G	A	2: 153,801,587 (GRCm39)	M355I	probably benign	Het
Catsperb	T	C	12: 101,554,402 (GRCm39)	S699P	possibly damaging	Het
Cdh23	T	G	10: 60,140,872 (GRCm39)	I3161L	possibly damaging	Het
Chd3	T	C	11: 69,244,604 (GRCm39)	T1257A	probably damaging	Het
Cnnm4	C	T	1: 36,539,036 (GRCm39)	T638I	probably benign	Het
Cspg4b	A	G	13: 113,504,646 (GRCm39)	D1925G	probably damaging	Het
Cyp3a63-ps	A	G	5: 145,564,847 (GRCm39)		noncoding transcript	Het
Dnah14	T	A	1: 181,428,771 (GRCm39)	I259N	possibly damaging	Het
Dnah17	T	C	11: 118,019,981 (GRCm39)	D22G	probably benign	Het
Epn2	T	G	11: 61,437,312 (GRCm39)	T87P	probably damaging	Het
Fbxl18	A	G	5: 142,874,578 (GRCm39)	L81P	probably damaging	Het
Gas1	A	T	13: 60,323,970 (GRCm39)	D221E	probably damaging	Het
Gm8356	T	C	14: 17,691,275 (GRCm39)	Y130C	probably damaging	Het
Gpr151	T	G	18: 42,712,459 (GRCm39)	K73T	probably damaging	Het
Helq	A	C	5: 100,946,305 (GRCm39)	V12G	probably damaging	Het
Inpp4b	A	G	8: 82,494,806 (GRCm39)	T74A	probably benign	Het
Kirrel3	G	A	9: 34,919,045 (GRCm39)	V234I	probably damaging	Het
Kxd1	T	A	8: 70,972,713 (GRCm39)		probably null	Het
Lif	T	C	11: 4,218,924 (GRCm39)	Y68H	probably damaging	Het
Map6	A	G	7: 98,985,314 (GRCm39)	Q406R	probably damaging	Het
Mcoln3	A	T	3: 145,830,527 (GRCm39)	M86L	probably benign	Het
Mei1	T	A	15: 81,987,439 (GRCm39)	Y834*	probably null	Het
Mroh1	T	C	15: 76,320,319 (GRCm39)		probably null	Het
Myo15b	T	C	11: 115,777,065 (GRCm39)	I2319T	possibly damaging	Het
Myo7b	T	G	18: 32,127,439 (GRCm39)	D621A	probably damaging	Het
Naip5	C	T	13: 100,359,674 (GRCm39)	A521T	possibly damaging	Het
Nek7	T	C	1: 138,426,351 (GRCm39)	D254G	probably damaging	Het
Nsd2	A	G	5: 34,024,921 (GRCm39)	R560G	possibly damaging	Het
Or2t46	T	C	11: 58,472,464 (GRCm39)	F265L	probably benign	Het
Or52x1	A	T	7: 104,852,926 (GRCm39)	L208H	probably damaging	Het
Pbx1	T	A	1: 168,018,910 (GRCm39)	T312S	probably benign	Het
Peg10	GAT	GATCAT	6: 4,756,449 (GRCm39)		probably benign	Het
Pitrm1	A	G	13: 6,610,097 (GRCm39)	S390G	probably damaging	Het
Plcxd3	C	T	15: 4,546,239 (GRCm39)	T81M	probably damaging	Het
Pmf1	C	T	3: 88,307,017 (GRCm39)		probably null	Het
Rabep1	T	C	11: 70,825,947 (GRCm39)	V739A	probably damaging	Het
Rex2	A	G	4: 147,142,451 (GRCm39)	D313G	possibly damaging	Het
Rpia	C	T	6: 70,750,485 (GRCm39)	V216I	probably damaging	Het
Rsf1	CG	CGACGGCGGTG	7: 97,229,115 (GRCm39)		probably benign	Het
Sec13	T	A	6: 113,712,167 (GRCm39)	H56L	probably damaging	Het
Sec16a	A	T	2: 26,315,817 (GRCm39)	V1733D	probably damaging	Het
Sim2	G	A	16: 93,898,089 (GRCm39)	A108T	probably damaging	Het
Slc27a5	T	C	7: 12,722,479 (GRCm39)	D665G	probably damaging	Het
Slc38a6	T	A	12: 73,383,849 (GRCm39)	V180E	probably damaging	Het
Smarcad1	T	G	6: 65,052,122 (GRCm39)	N38K	possibly damaging	Het
Spem2	T	C	11: 69,709,091 (GRCm39)	T45A	possibly damaging	Het
Svil	T	C	18: 5,057,432 (GRCm39)	S714P	probably benign	Het
Taar7b	T	A	10: 23,876,158 (GRCm39)	S108T	possibly damaging	Het
Tbl3	T	C	17: 24,923,645 (GRCm39)	K256E	probably benign	Het
Tcam1	T	G	11: 106,177,276 (GRCm39)	C423G	probably damaging	Het
Trpm4	A	T	7: 44,977,143 (GRCm39)		probably null	Het
Ttyh2	T	C	11: 114,592,662 (GRCm39)	C231R	probably damaging	Het
Ugt3a1	C	T	15: 9,365,397 (GRCm39)	P337S	probably damaging	Het
Vmn2r83	A	C	10: 79,304,837 (GRCm39)	T16P	possibly damaging	Het
Vps52	T	C	17: 34,182,189 (GRCm39)	F589S	probably damaging	Het
Xkr4	T	C	1: 3,286,961 (GRCm39)	T410A	probably damaging	Het
Xkr9	A	G	1: 13,742,726 (GRCm39)	T4A	probably damaging	Het
Yars2	T	C	16: 16,122,438 (GRCm39)	L268P	probably damaging	Het
Zbtb41	C	A	1: 139,357,027 (GRCm39)	N427K	possibly damaging	Het
Zeb2	T	C	2: 44,887,771 (GRCm39)	T414A	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
IGL02836:Cyp26c1	APN	19	37,675,604 (GRCm39)	missense	probably benign	0.00
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
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

Predicted Primers

PCR Primer
(F):5'- TAAGAGGCCGGTTGGAGATC -3'
(R):5'- AGGGTCCATGGATCTTTTAAGG -3'

Sequencing Primer
(F):5'- TGTAACTAATGTGACAGCCTAGGAC -3'
(R):5'- AAGGTGCTTTGGTTTTCTCACC -3'

Posted On

2018-04-02