Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02331:Cyp2c50'

288699

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Cyp2c50

Ensembl Gene

ENSMUSG00000054827

Gene Name

cytochrome P450, family 2, subfamily c, polypeptide 50

Synonyms

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.065) question?

Stock #

IGL02331

Quality Score

Status

Chromosome

Chromosomal Location

40078132-40102394 bp(+) (GRCm39)

Type of Mutation

critical splice acceptor site

DNA Base Change (assembly)

A to T at 40079387 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000079065 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000068094] [ENSMUST00000080171]

AlphaFold

Q91X77

Predicted Effect

probably null
Transcript: ENSMUST00000068094

SMART Domains

Protein: ENSMUSP00000068039
Gene: ENSMUSG00000054827

Domain	Start	End	E-Value	Type
signal peptide	1	25	N/A	INTRINSIC
Pfam:p450	30	225	3.7e-54	PFAM
Pfam:p450	213	428	6.8e-88	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000080171

SMART Domains

Protein: ENSMUSP00000079065
Gene: ENSMUSG00000054827

Domain	Start	End	E-Value	Type
signal peptide	1	25	N/A	INTRINSIC
Pfam:p450	30	487	1.2e-162	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000124391

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ace	T	G	11: 105,862,170 (GRCm39)	F241L	possibly damaging	Het
Alx1	A	G	10: 102,858,160 (GRCm39)	F180L	possibly damaging	Het
Apaf1	T	C	10: 90,895,481 (GRCm39)	D428G	probably damaging	Het
Arap2	G	T	5: 62,807,025 (GRCm39)		probably benign	Het
Arnt2	A	G	7: 83,914,832 (GRCm39)	Y511H	probably damaging	Het
Bmp7	A	T	2: 172,714,724 (GRCm39)	C362S	probably damaging	Het
Bpifb9a	A	G	2: 154,104,307 (GRCm39)	D250G	possibly damaging	Het
Ccnk	T	A	12: 108,155,343 (GRCm39)	L100H	probably damaging	Het
Cdh23	T	C	10: 60,301,322 (GRCm39)	I451V	probably damaging	Het
Cemip	A	G	7: 83,613,192 (GRCm39)		probably null	Het
Cep78	T	A	19: 15,951,779 (GRCm39)	Q342L	probably benign	Het
Clca3b	T	C	3: 144,547,167 (GRCm39)		probably benign	Het
Cpb2	A	G	14: 75,520,844 (GRCm39)	R420G	possibly damaging	Het
Dbnl	T	C	11: 5,749,997 (GRCm39)	*433R	probably null	Het
Elovl5	T	C	9: 77,887,181 (GRCm39)	S191P	possibly damaging	Het
Fbxo42	A	G	4: 140,895,157 (GRCm39)	E40G	probably benign	Het
Fpgt	T	C	3: 154,793,499 (GRCm39)	D176G	possibly damaging	Het
Gm1110	C	A	9: 26,824,583 (GRCm39)		probably null	Het
Grik4	A	T	9: 42,453,284 (GRCm39)	S700R	probably damaging	Het
Herc4	T	C	10: 63,099,939 (GRCm39)	S121P	probably benign	Het
Hps4	T	C	5: 112,517,402 (GRCm39)	V263A	probably benign	Het
Hsd11b1	A	C	1: 192,922,924 (GRCm39)	L81R	probably damaging	Het
Ift122	T	C	6: 115,864,285 (GRCm39)	M310T	probably damaging	Het
Isg20l2	G	T	3: 87,839,394 (GRCm39)	V202L	probably damaging	Het
Klf3	A	G	5: 64,986,415 (GRCm39)	K111E	probably damaging	Het
Kxd1	T	C	8: 70,968,090 (GRCm39)	T128A	probably benign	Het
Lgals7	A	G	7: 28,565,143 (GRCm39)	T94A	probably benign	Het
Lrp5	T	C	19: 3,641,816 (GRCm39)	H1382R	possibly damaging	Het
Muc6	T	C	7: 141,226,726 (GRCm39)	T1434A	possibly damaging	Het
Mybl2	C	T	2: 162,916,605 (GRCm39)	R419W	probably damaging	Het
Myo5b	A	T	18: 74,771,111 (GRCm39)		probably null	Het
Myo7a	A	G	7: 97,702,389 (GRCm39)	V2138A	possibly damaging	Het
Naip1	T	A	13: 100,563,304 (GRCm39)	K620N	probably benign	Het
Ntrk2	T	C	13: 58,994,670 (GRCm39)		probably null	Het
Or8g21	A	G	9: 38,906,402 (GRCm39)	S110P	probably damaging	Het
Osbpl5	A	G	7: 143,263,532 (GRCm39)	V105A	probably benign	Het
Pfkp	A	C	13: 6,647,996 (GRCm39)	F527V	probably benign	Het
Pilra	C	A	5: 137,833,917 (GRCm39)	G47*	probably null	Het
Pkdrej	C	A	15: 85,705,528 (GRCm39)	C136F	probably damaging	Het
Ppp1r16a	T	A	15: 76,575,200 (GRCm39)	M36K	probably benign	Het
Rita1	C	T	5: 120,747,858 (GRCm39)	A147T	probably damaging	Het
Rnf40	T	C	7: 127,188,999 (GRCm39)	V124A	probably benign	Het
St7l	A	G	3: 104,833,904 (GRCm39)	T522A	probably damaging	Het
Stox2	G	A	8: 47,644,979 (GRCm39)	P891L	probably damaging	Het
Trbv12-1	T	C	6: 41,090,972 (GRCm39)	S115P	probably damaging	Het
Trpm1	A	G	7: 63,884,800 (GRCm39)	D827G	probably benign	Het
Ttll6	T	A	11: 96,026,573 (GRCm39)	M119K	probably damaging	Het
Ufl1	C	A	4: 25,251,971 (GRCm39)	C568F	probably damaging	Het
Usp29	A	T	7: 6,965,155 (GRCm39)	I333F	probably benign	Het
Vta1	G	A	10: 14,581,138 (GRCm39)	T23M	probably damaging	Het
Zswim8	A	G	14: 20,773,325 (GRCm39)	D1771G	probably damaging	Het

Other mutations in Cyp2c50

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01286:Cyp2c50	APN	19	40,080,728 (GRCm39)	missense	probably benign	0.12
IGL01463:Cyp2c50	APN	19	40,079,422 (GRCm39)	missense	probably damaging	1.00
IGL01669:Cyp2c50	APN	19	40,086,495 (GRCm39)	missense	probably damaging	1.00
IGL02008:Cyp2c50	APN	19	40,079,543 (GRCm39)	nonsense	probably null
IGL02830:Cyp2c50	APN	19	40,086,500 (GRCm39)	missense	probably benign	0.00
R0115:Cyp2c50	UTSW	19	40,080,837 (GRCm39)	splice site	probably benign
R1666:Cyp2c50	UTSW	19	40,079,499 (GRCm39)	missense	probably benign
R1668:Cyp2c50	UTSW	19	40,079,499 (GRCm39)	missense	probably benign
R1679:Cyp2c50	UTSW	19	40,099,859 (GRCm39)	missense	possibly damaging	0.93
R2425:Cyp2c50	UTSW	19	40,078,292 (GRCm39)	missense	probably benign	0.20
R2509:Cyp2c50	UTSW	19	40,079,013 (GRCm39)	missense	probably benign
R2570:Cyp2c50	UTSW	19	40,078,764 (GRCm39)	missense	probably benign	0.01
R3040:Cyp2c50	UTSW	19	40,086,570 (GRCm39)	missense	probably benign	0.02
R3983:Cyp2c50	UTSW	19	40,101,962 (GRCm39)	missense	possibly damaging	0.64
R4425:Cyp2c50	UTSW	19	40,079,136 (GRCm39)	missense	possibly damaging	0.94
R4484:Cyp2c50	UTSW	19	40,079,083 (GRCm39)	missense	probably damaging	1.00
R4520:Cyp2c50	UTSW	19	40,079,133 (GRCm39)	missense	probably benign	0.02
R4820:Cyp2c50	UTSW	19	40,102,024 (GRCm39)	missense	probably damaging	1.00
R4978:Cyp2c50	UTSW	19	40,086,501 (GRCm39)	missense	probably damaging	1.00
R5335:Cyp2c50	UTSW	19	40,079,060 (GRCm39)	missense	probably benign	0.00
R5807:Cyp2c50	UTSW	19	40,101,944 (GRCm39)	missense	probably damaging	1.00
R5955:Cyp2c50	UTSW	19	40,079,387 (GRCm39)	critical splice acceptor site	probably null
R6553:Cyp2c50	UTSW	19	40,079,046 (GRCm39)	missense	probably benign	0.41
R6560:Cyp2c50	UTSW	19	40,085,299 (GRCm39)	missense	probably benign	0.03
R7241:Cyp2c50	UTSW	19	40,079,012 (GRCm39)	missense	probably benign
R7389:Cyp2c50	UTSW	19	40,079,107 (GRCm39)	missense	probably benign	0.01
R7511:Cyp2c50	UTSW	19	40,080,634 (GRCm39)	splice site	probably null
R9327:Cyp2c50	UTSW	19	40,079,010 (GRCm39)	missense	probably benign	0.01
R9643:Cyp2c50	UTSW	19	40,086,512 (GRCm39)	missense	probably damaging	1.00
RF008:Cyp2c50	UTSW	19	40,078,268 (GRCm39)	missense	probably damaging	0.98
Z1088:Cyp2c50	UTSW	19	40,086,399 (GRCm39)	missense	possibly damaging	0.59

Posted On

2015-04-16