Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01109:Cyp2c38'

53258

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: 0.080) question?

Stock #

IGL01109

Quality Score

Status

Chromosome

Chromosomal Location

39389556-39463075 bp(-) (GRCm38)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

A to G at 39462885 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000044722 (fasta)

Gene Model

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

AlphaFold

P56655

Predicted Effect

probably null
Transcript: ENSMUST00000035488

SMART Domains

Protein: ENSMUSP00000044722
Gene: ENSMUSG00000032808

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: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Alpk2	T	C	18: 65,307,140	D861G	probably benign	Het
Anapc4	A	G	5: 52,848,628	T326A	probably damaging	Het
Atm	T	C	9: 53,490,293	I1425M	probably damaging	Het
Bend5	T	C	4: 111,448,641	L294P	probably damaging	Het
Casp7	T	A	19: 56,436,745	D193E	probably benign	Het
Cdc16	T	C	8: 13,764,606	V130A	probably benign	Het
Chl1	T	G	6: 103,715,393	Y331D	probably damaging	Het
Cntn1	C	A	15: 92,339,577	Y1017*	probably null	Het
Cyb5d1	C	A	11: 69,393,784		probably null	Het
Dzip3	T	C	16: 48,929,674	M827V	probably benign	Het
Ehd1	T	A	19: 6,298,147	M385K	possibly damaging	Het
Eya3	C	A	4: 132,693,000	Y52*	probably null	Het
Itsn1	C	T	16: 91,806,201		probably benign	Het
Ktn1	A	T	14: 47,714,721	N983I	probably damaging	Het
Lrrk2	T	A	15: 91,738,832	N1068K	probably damaging	Het
Mup6	T	A	4: 60,006,001	N156K	probably damaging	Het
Nedd9	T	A	13: 41,316,234	H481L	probably benign	Het
Obscn	T	C	11: 59,133,762	D484G	probably damaging	Het
Ogdh	T	C	11: 6,348,790	V674A	probably damaging	Het
Olfr1079	T	A	2: 86,538,330	D195V	probably benign	Het
Olfr1166	T	C	2: 88,124,679	Q102R	probably damaging	Het
Olfr1197	T	C	2: 88,729,065	D178G	probably damaging	Het
Olfr1278	G	A	2: 111,292,519	D84N	probably benign	Het
Olfr1467	A	G	19: 13,364,699	I24V	probably benign	Het
Olfr968	T	C	9: 39,771,997	M268V	probably benign	Het
Osbpl6	A	G	2: 76,549,527	T154A	probably damaging	Het
P2rx1	T	C	11: 73,008,215	V84A	probably damaging	Het
Pcdh11x	G	A	X: 120,400,914	V685I	possibly damaging	Het
Ppp4r3b	T	A	11: 29,188,288	V212E	probably damaging	Het
Prune2	A	G	19: 17,123,879	D2249G	probably benign	Het
Slc5a8	T	A	10: 88,906,392	S317T	possibly damaging	Het
Ssc5d	T	A	7: 4,937,112	L822*	probably null	Het
Swt1	A	G	1: 151,411,139	S201P	probably damaging	Het
Tet1	T	A	10: 62,879,774	M81L	probably benign	Het
Tex9	T	A	9: 72,488,067	N39I	probably damaging	Het
Ttc4	T	C	4: 106,663,163	Y378C	probably damaging	Het
Ubap2	T	C	4: 41,195,155	N1131S	probably damaging	Het
Ugt2b35	C	T	5: 87,008,306	T419I	probably damaging	Het
Ugt3a2	T	G	15: 9,367,268	F366V	probably damaging	Het
Zfp324	A	G	7: 12,969,435	T95A	probably benign	Het

Other mutations in Cyp2c38

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00508:Cyp2c38	APN	19	39460725	nonsense	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
R8681:Cyp2c38	UTSW	19	39401691	missense	possibly damaging	0.70

Posted On

2013-06-21