Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL00508:Cyp2c38'

5665

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Cyp2c38

Ensembl Gene

ENSMUSG00000032808

Gene Name

cytochrome P450, family 2, subfamily c, polypeptide 38

Synonyms

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.120) question?

Stock #

IGL00508

Quality Score

Status

Chromosome

Chromosomal Location

39389556-39463075 bp(-) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 39460725 bp

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 61 (Y61*)

Ref Sequence

ENSEMBL: ENSMUSP00000044722 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000035488]

Predicted Effect

probably null
Transcript: ENSMUST00000035488
AA Change: Y61*

SMART Domains

Protein: ENSMUSP00000044722
Gene: ENSMUSG00000032808
AA Change: Y61*

Domain	Start	End	E-Value	Type
signal peptide	1	20	N/A	INTRINSIC
Pfam:p450	30	487	1.5e-161	PFAM

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrv1	A	C	13: 81,506,187	D2188E	probably damaging	Het
Atrx	A	G	X: 105,823,799	S2026P	probably damaging	Het
Cacna1b	A	C	2: 24,657,289		probably null	Het
Cfap46	C	T	7: 139,660,689	S56N	probably damaging	Het
Cfap57	C	T	4: 118,581,170		probably null	Het
Ckap5	T	G	2: 91,606,256	V1567G	probably damaging	Het
D130052B06Rik	A	G	11: 33,599,402	E7G	unknown	Het
Dhx38	A	G	8: 109,556,934	L527P	possibly damaging	Het
Dnaaf5	A	G	5: 139,177,946	N653D	probably benign	Het
Dnah8	T	G	17: 30,855,930	M4541R	probably damaging	Het
Dpyd	A	T	3: 119,064,987	T617S	probably benign	Het
Fpr2	A	T	17: 17,892,772	N10I	probably damaging	Het
Frmd4a	A	T	2: 4,594,734	K524*	probably null	Het
Gpr45	C	T	1: 43,032,292	P32S	possibly damaging	Het
H2-Eb2	A	T	17: 34,334,367	I176F	probably damaging	Het
Hcrtr1	T	A	4: 130,137,269	N74I	probably damaging	Het
Ifi47	C	T	11: 49,095,414	Q3*	probably null	Het
Krt8	T	A	15: 101,998,025	M350L	probably benign	Het
Lilra6	A	G	7: 3,911,554	S533P	probably benign	Het
Map1b	A	T	13: 99,429,233	S2327T	unknown	Het
Mcoln3	T	A	3: 146,133,928	I345N	probably damaging	Het
Mettl3	C	A	14: 52,294,979		probably benign	Het
Mgat4a	G	A	1: 37,449,123	R472*	probably null	Het
Micall1	A	G	15: 79,130,568	K715E	probably damaging	Het
Pak1	G	T	7: 97,854,568	G37C	probably benign	Het
Pomt2	T	G	12: 87,119,627	H426P	probably damaging	Het
Pou2f3	G	A	9: 43,139,963	P155S	probably benign	Het
Psg25	A	G	7: 18,529,731	Y56H	probably benign	Het
Rab9	G	T	X: 166,457,864	Y150*	probably null	Het
Rhox2g	T	A	X: 37,642,810	N152I	probably damaging	Het
Sema6d	T	C	2: 124,656,924		probably benign	Het
Simc1	C	A	13: 54,525,176	Q446K	probably benign	Het
Svs2	G	T	2: 164,237,042	T315K	possibly damaging	Het
Syt9	C	T	7: 107,425,367	R156*	probably null	Het
Tmem260	A	T	14: 48,509,121	Y618F	probably damaging	Het
Wdr44	A	G	X: 23,800,544	I719V	possibly damaging	Het
Zfp518a	T	G	19: 40,913,470	I614M	probably damaging	Het

Other mutations in Cyp2c38

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01109:Cyp2c38	APN	19	39462885	critical splice donor site	probably null
IGL01521:Cyp2c38	APN	19	39460670	missense	probably damaging	0.99
IGL02036:Cyp2c38	APN	19	39460316	missense	probably null	0.97
IGL02187:Cyp2c38	APN	19	39436205	missense	probably benign	0.14
IGL02954:Cyp2c38	APN	19	39391076	missense	probably damaging	0.99
R0479:Cyp2c38	UTSW	19	39463005	missense	probably damaging	0.99
R0684:Cyp2c38	UTSW	19	39391056	missense	probably damaging	0.99
R0919:Cyp2c38	UTSW	19	39404669	missense	probably benign	0.07
R1462:Cyp2c38	UTSW	19	39392188	missense	probably damaging	0.96
R1462:Cyp2c38	UTSW	19	39392188	missense	probably damaging	0.96
R1642:Cyp2c38	UTSW	19	39401709	missense	probably damaging	1.00
R1715:Cyp2c38	UTSW	19	39404795	missense	probably benign	0.25
R1900:Cyp2c38	UTSW	19	39438312	missense	probably benign	0.40
R1954:Cyp2c38	UTSW	19	39404687	missense	probably damaging	0.99
R1955:Cyp2c38	UTSW	19	39404687	missense	probably damaging	0.99
R2860:Cyp2c38	UTSW	19	39460694	missense	probably benign	0.01
R2861:Cyp2c38	UTSW	19	39460694	missense	probably benign	0.01
R2862:Cyp2c38	UTSW	19	39460694	missense	probably benign	0.01
R3084:Cyp2c38	UTSW	19	39401701	missense	probably benign	0.00
R3727:Cyp2c38	UTSW	19	39392295	splice site	probably benign
R4648:Cyp2c38	UTSW	19	39460688	missense	probably benign	0.05
R5119:Cyp2c38	UTSW	19	39460621	missense	probably damaging	1.00
R5636:Cyp2c38	UTSW	19	39438306	nonsense	probably null
R5651:Cyp2c38	UTSW	19	39460712	missense	probably damaging	0.99
R6263:Cyp2c38	UTSW	19	39392215	missense	probably damaging	1.00
R6384:Cyp2c38	UTSW	19	39392293	splice site	probably null
R6853:Cyp2c38	UTSW	19	39438304	missense	probably benign	0.02
R6915:Cyp2c38	UTSW	19	39436068	missense	probably damaging	0.99
R7201:Cyp2c38	UTSW	19	39401776	missense	probably damaging	1.00
R7570:Cyp2c38	UTSW	19	39404743	missense	possibly damaging	0.76
R7625:Cyp2c38	UTSW	19	39462924	missense	possibly damaging	0.78
R7666:Cyp2c38	UTSW	19	39438242	missense	possibly damaging	0.52

Posted On

2012-04-20