Mutagenetix > Incidental Mutations

Incidental Mutation 'R5178:Cyp2c66'

399526

Institutional Source

Beutler Lab

Gene Symbol

Cyp2c66

Ensembl Gene

ENSMUSG00000067229

Gene Name

cytochrome P450, family 2, subfamily c, polypeptide 66

Synonyms

MMRRC Submission

042758-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.186) question?

Stock #

R5178 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

39113898-39187072 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 39171029 bp

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 308 (Y308C)

Ref Sequence

ENSEMBL: ENSMUSP00000084487 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000087234] [ENSMUST00000146494]

Predicted Effect

probably damaging
Transcript: ENSMUST00000087234
AA Change: Y308C

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

SMART Domains

Protein: ENSMUSP00000084487
Gene: ENSMUSG00000067229
AA Change: Y308C

Domain	Start	End	E-Value	Type
signal peptide	1	25	N/A	INTRINSIC
Pfam:p450	30	487	1e-157	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000146494

SMART Domains

Protein: ENSMUSP00000120397
Gene: ENSMUSG00000067229

Domain	Start	End	E-Value	Type
signal peptide	1	25	N/A	INTRINSIC
SCOP:d1cpt__	26	55	4e-9	SMART

Meta Mutation Damage Score

0.8126

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.3%
20x: 95.3%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abt1	G	T	13: 23,422,649	A94E	possibly damaging	Het
Carmil2	G	T	8: 105,696,889	G1207V	probably damaging	Het
Cndp2	A	T	18: 84,675,028	N202K	probably benign	Het
Dhx29	T	G	13: 112,932,600	S155A	possibly damaging	Het
Dnah7b	T	G	1: 46,358,216	F3936V	possibly damaging	Het
Dsg1b	G	A	18: 20,397,503	G405E	probably damaging	Het
Exo5	A	T	4: 120,921,537		probably null	Het
Fam171b	T	C	2: 83,879,987	F668L	probably damaging	Het
Gemin5	A	T	11: 58,146,518	S624T	probably benign	Het
Gm15922	T	A	7: 3,739,397	K44*	probably null	Het
Gpc2	C	A	5: 138,275,605	V444L	possibly damaging	Het
Hephl1	T	A	9: 15,086,172	K399N	probably damaging	Het
Lair1	G	A	7: 4,010,489	T82I	possibly damaging	Het
Lhx1	G	T	11: 84,520,388	A155E	possibly damaging	Het
Maip1	G	A	1: 57,415,690	D278N	probably benign	Het
Mcm4	T	A	16: 15,635,303	D174V	probably benign	Het
Mcph1	T	A	8: 18,607,326	D60E	probably damaging	Het
Mmp17	T	A	5: 129,595,058	W132R	probably damaging	Het
Olfr1178	C	T	2: 88,391,475	T76I	possibly damaging	Het
Olfr868	T	A	9: 20,101,192	C144*	probably null	Het
Pds5a	T	C	5: 65,663,875	T169A	probably damaging	Het
Pfkm	A	G	15: 98,131,515	N697D	probably benign	Het
Ppwd1	A	T	13: 104,220,435	S191T	probably benign	Het
Ranbp2	T	A	10: 58,476,785	M1109K	probably benign	Het
Robo4	T	C	9: 37,407,960	W535R	probably damaging	Het
Rsf1	A	G	7: 97,661,872	D603G	possibly damaging	Het
Slc22a26	T	C	19: 7,790,175	T289A	possibly damaging	Het
Sp2	A	G	11: 96,955,838	F554L	probably benign	Het
Sp4	A	G	12: 118,261,889	V580A	possibly damaging	Het
Tbc1d19	T	A	5: 53,889,325	S413T	possibly damaging	Het
Tcrg-C4	A	G	13: 19,344,762		probably benign	Het
Tecta	T	C	9: 42,375,185	D725G	probably damaging	Het
Tmem200a	T	A	10: 25,994,379	Q4H	probably benign	Het
Tpx2	T	A	2: 152,875,549	I122N	probably benign	Het
Ube4b	T	C	4: 149,342,992	M900V	probably damaging	Het
Vmn1r87	G	T	7: 13,131,865	A165E	possibly damaging	Het
Vmn2r95	A	G	17: 18,440,075	T250A	probably benign	Het
Wasf1	G	A	10: 40,937,676	R518H	unknown	Het
Zfhx2	A	T	14: 55,074,775	F154Y	probably benign	Het
Zfp729a	A	G	13: 67,637,645		probably null	Het
Zfp976	A	G	7: 42,612,501		probably null	Het

Other mutations in Cyp2c66

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01145:Cyp2c66	APN	19	39170961	missense	probably benign	0.00
IGL01589:Cyp2c66	APN	19	39183935	critical splice donor site	probably null
IGL02098:Cyp2c66	APN	19	39171029	missense	probably damaging	1.00
IGL02114:Cyp2c66	APN	19	39171075	splice site	probably benign
IGL02567:Cyp2c66	APN	19	39186640	utr 3 prime	probably benign
IGL03181:Cyp2c66	APN	19	39142039	missense	probably benign	0.00
IGL03230:Cyp2c66	APN	19	39183858	missense	possibly damaging	0.91
R0007:Cyp2c66	UTSW	19	39170958	nonsense	probably null
R0092:Cyp2c66	UTSW	19	39183780	splice site	probably benign
R0242:Cyp2c66	UTSW	19	39141925	missense	probably damaging	1.00
R0242:Cyp2c66	UTSW	19	39141925	missense	probably damaging	1.00
R0324:Cyp2c66	UTSW	19	39176691	missense	probably benign	0.27
R0675:Cyp2c66	UTSW	19	39186616	missense	possibly damaging	0.93
R1127:Cyp2c66	UTSW	19	39163368	missense	probably damaging	1.00
R1871:Cyp2c66	UTSW	19	39163414	missense	possibly damaging	0.66
R3404:Cyp2c66	UTSW	19	39163327	missense	probably benign
R3429:Cyp2c66	UTSW	19	39163448	missense	probably damaging	0.97
R3896:Cyp2c66	UTSW	19	39142278	missense	possibly damaging	0.82
R4115:Cyp2c66	UTSW	19	39176559	missense	possibly damaging	0.66
R4116:Cyp2c66	UTSW	19	39176559	missense	possibly damaging	0.66
R4667:Cyp2c66	UTSW	19	39176656	missense	probably damaging	1.00
R4668:Cyp2c66	UTSW	19	39176656	missense	probably damaging	1.00
R4711:Cyp2c66	UTSW	19	39163399	missense	possibly damaging	0.74
R4960:Cyp2c66	UTSW	19	39163322	critical splice acceptor site	probably null
R5070:Cyp2c66	UTSW	19	39163470	missense	probably benign	0.15
R5113:Cyp2c66	UTSW	19	39163438	missense	probably benign	0.00
R5125:Cyp2c66	UTSW	19	39171029	missense	probably damaging	1.00
R5588:Cyp2c66	UTSW	19	39163414	missense	possibly damaging	0.66
R6011:Cyp2c66	UTSW	19	39141936	missense	probably benign	0.00
R6497:Cyp2c66	UTSW	19	39163377	missense	probably damaging	0.96
R6707:Cyp2c66	UTSW	19	39186500	missense	probably damaging	1.00
R7173:Cyp2c66	UTSW	19	39170957	missense	probably benign	0.01
R7202:Cyp2c66	UTSW	19	39141904	missense	probably damaging	1.00
R7469:Cyp2c66	UTSW	19	39183863	missense	probably damaging	1.00
R7614:Cyp2c66	UTSW	19	39171028	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- CCAAGGTCTGTCAGGTCAAAC -3'
(R):5'- TTCACTTCTCTGCTATGGACTAAG -3'

Sequencing Primer
(F):5'- CCAAGGTCTGTCAGGTCAAACTTATC -3'
(R):5'- ACTTCTCTGCTATGGACTAAGATATC -3'

Posted On

2016-07-06