Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02544:Cyp2c65'

297727

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Cyp2c65

Ensembl Gene

ENSMUSG00000067231

Gene Name

cytochrome P450, family 2, subfamily c, polypeptide 65

Synonyms

2210009K14Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.082) question?

Stock #

IGL02544

Quality Score

Status

Chromosome

Chromosomal Location

39049459-39082388 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 39079082 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 387 (V387A)

Ref Sequence

ENSEMBL: ENSMUSP00000084489 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000087236]

AlphaFold

Q148B1

Predicted Effect

probably damaging
Transcript: ENSMUST00000087236
AA Change: V387A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000084489
Gene: ENSMUSG00000067231
AA Change: V387A

Domain	Start	End	E-Value	Type
signal peptide	1	25	N/A	INTRINSIC
Pfam:p450	30	487	2.1e-160	PFAM

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aasdh	A	C	5: 77,049,961 (GRCm39)	S12A	probably benign	Het
Abcb5	A	T	12: 118,870,003 (GRCm39)		probably benign	Het
Acap3	G	A	4: 155,976,867 (GRCm39)	E6K	possibly damaging	Het
Ano3	A	T	2: 110,488,594 (GRCm39)	I946K	possibly damaging	Het
Arid1a	A	G	4: 133,409,059 (GRCm39)	V1816A	unknown	Het
Cacna1c	C	T	6: 118,728,440 (GRCm39)	G335R	probably damaging	Het
Ccnh	C	A	13: 85,350,460 (GRCm39)	Y118*	probably null	Het
Cep76	C	T	18: 67,768,020 (GRCm39)		probably benign	Het
Dapk1	T	G	13: 60,899,031 (GRCm39)	S834A	probably benign	Het
Ddx39a	T	C	8: 84,449,402 (GRCm39)	S367P	probably benign	Het
Dicer1	A	G	12: 104,681,091 (GRCm39)	I474T	probably damaging	Het
Dnah10	G	A	5: 124,876,069 (GRCm39)	R2579H	probably benign	Het
Dnajc16	T	C	4: 141,491,958 (GRCm39)	N622D	probably damaging	Het
Eif3c	G	T	7: 126,146,784 (GRCm39)	S799*	probably null	Het
Fbxo9	A	G	9: 77,994,541 (GRCm39)	Y259H	probably damaging	Het
Fpr-rs4	A	T	17: 18,242,473 (GRCm39)	H160L	probably benign	Het
Galc	A	T	12: 98,197,701 (GRCm39)	V336D	probably benign	Het
Matcap1	C	T	8: 106,010,092 (GRCm39)	V286M	probably benign	Het
Mfrp	T	C	9: 44,014,091 (GRCm39)	L153P	probably damaging	Het
Mtx1	C	A	3: 89,117,703 (GRCm39)	W30L	probably damaging	Het
Mysm1	A	T	4: 94,840,543 (GRCm39)	D624E	probably damaging	Het
Naa16	A	G	14: 79,573,260 (GRCm39)	F837L	probably damaging	Het
Or10ag56	C	T	2: 87,139,471 (GRCm39)	R113C	possibly damaging	Het
Or1j17	A	G	2: 36,578,848 (GRCm39)	Y278C	probably damaging	Het
Or2ag1	T	C	7: 106,313,742 (GRCm39)	I49V	probably benign	Het
Or5h25	A	T	16: 58,930,507 (GRCm39)	H155Q	probably damaging	Het
Pde4d	G	T	13: 109,877,057 (GRCm39)	D137Y	probably damaging	Het
Pik3r1	G	T	13: 101,823,784 (GRCm39)	R534S	probably damaging	Het
Pira12	T	A	7: 3,900,185 (GRCm39)	Y139F	probably damaging	Het
Plekha5	A	C	6: 140,535,454 (GRCm39)	E239A	possibly damaging	Het
Psap	G	T	10: 60,136,405 (GRCm39)		probably benign	Het
Rap2b	T	C	3: 61,272,560 (GRCm39)	F28S	probably damaging	Het
Rfc5	A	T	5: 117,524,931 (GRCm39)		probably benign	Het
Ryr1	C	T	7: 28,815,024 (GRCm39)	D175N	probably benign	Het
Sbno1	T	G	5: 124,542,046 (GRCm39)	I370L	probably damaging	Het
Slc17a6	T	A	7: 51,315,903 (GRCm39)	C390*	probably null	Het
Srsf7	A	T	17: 80,511,620 (GRCm39)		probably benign	Het
Tbc1d10c	C	T	19: 4,237,959 (GRCm39)	D272N	probably benign	Het
Tll2	A	G	19: 41,124,404 (GRCm39)	F204L	probably damaging	Het
Tmc1	T	A	19: 20,884,327 (GRCm39)	T38S	probably benign	Het
Tmem184b	A	T	15: 79,250,007 (GRCm39)	I256K	probably damaging	Het
Tmem214	G	A	5: 31,030,090 (GRCm39)	A296T	probably benign	Het
Trip11	G	A	12: 101,859,780 (GRCm39)	R365W	probably damaging	Het
Ubr4	C	T	4: 139,142,429 (GRCm39)	P1339S	probably damaging	Het
Vmn2r83	T	A	10: 79,317,293 (GRCm39)		probably benign	Het

Other mutations in Cyp2c65

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01122:Cyp2c65	APN	19	39,060,621 (GRCm39)	critical splice acceptor site	probably null
IGL01124:Cyp2c65	APN	19	39,081,954 (GRCm39)	utr 3 prime	probably benign
IGL01895:Cyp2c65	APN	19	39,060,676 (GRCm39)	missense	possibly damaging	0.90
R0172:Cyp2c65	UTSW	19	39,076,100 (GRCm39)	missense	possibly damaging	0.86
R0378:Cyp2c65	UTSW	19	39,061,662 (GRCm39)	missense	probably benign	0.19
R0517:Cyp2c65	UTSW	19	39,070,792 (GRCm39)	splice site	probably benign
R0585:Cyp2c65	UTSW	19	39,057,686 (GRCm39)	missense	probably benign	0.00
R1770:Cyp2c65	UTSW	19	39,070,642 (GRCm39)	missense	probably benign	0.07
R2051:Cyp2c65	UTSW	19	39,070,675 (GRCm39)	missense	probably benign	0.12
R2310:Cyp2c65	UTSW	19	39,081,826 (GRCm39)	missense	probably benign	0.02
R2911:Cyp2c65	UTSW	19	39,076,126 (GRCm39)	missense	probably damaging	0.96
R4208:Cyp2c65	UTSW	19	39,079,099 (GRCm39)	missense	probably damaging	1.00
R4258:Cyp2c65	UTSW	19	39,081,872 (GRCm39)	missense	probably benign	0.41
R4734:Cyp2c65	UTSW	19	39,060,778 (GRCm39)	missense	probably benign	0.00
R4821:Cyp2c65	UTSW	19	39,060,635 (GRCm39)	missense	probably damaging	1.00
R4926:Cyp2c65	UTSW	19	39,049,597 (GRCm39)	missense	probably benign	0.00
R5060:Cyp2c65	UTSW	19	39,049,514 (GRCm39)	missense	unknown
R5091:Cyp2c65	UTSW	19	39,076,009 (GRCm39)	critical splice acceptor site	probably null
R5433:Cyp2c65	UTSW	19	39,081,928 (GRCm39)	missense	probably benign	0.00
R6051:Cyp2c65	UTSW	19	39,049,610 (GRCm39)	missense	probably benign	0.29
R6182:Cyp2c65	UTSW	19	39,049,606 (GRCm39)	missense	probably benign	0.18
R6400:Cyp2c65	UTSW	19	39,049,558 (GRCm39)	missense	possibly damaging	0.80
R6586:Cyp2c65	UTSW	19	39,070,662 (GRCm39)	missense	possibly damaging	0.89
R6672:Cyp2c65	UTSW	19	39,076,118 (GRCm39)	missense	probably damaging	1.00
R6850:Cyp2c65	UTSW	19	39,057,535 (GRCm39)	missense	probably benign	0.15
R8075:Cyp2c65	UTSW	19	39,060,682 (GRCm39)	missense	probably benign	0.10
R8756:Cyp2c65	UTSW	19	39,049,552 (GRCm39)	nonsense	probably null
R9006:Cyp2c65	UTSW	19	39,070,714 (GRCm39)	missense	probably damaging	1.00
R9031:Cyp2c65	UTSW	19	39,061,663 (GRCm39)	nonsense	probably null
R9231:Cyp2c65	UTSW	19	39,060,661 (GRCm39)	missense	possibly damaging	0.92
R9663:Cyp2c65	UTSW	19	39,079,070 (GRCm39)	critical splice acceptor site	probably null

Posted On

2015-04-16