Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02954:Cyp2c38'

365023

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: 0.090) question?

Stock #

IGL02954

Quality Score

Status

Chromosome

Chromosomal Location

39389556-39463075 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 39391076 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Threonine at position 443 (M443T)

Ref Sequence

ENSEMBL: ENSMUSP00000044722 (fasta)

Gene Model

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

AlphaFold

P56655

Predicted Effect

probably damaging
Transcript: ENSMUST00000035488
AA Change: M443T

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000044722
Gene: ENSMUSG00000032808
AA Change: M443T

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: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb1a	G	T	5: 8,732,341	R908L	probably benign	Het
Abcc9	T	C	6: 142,646,281	N774S	probably damaging	Het
Alpk2	C	T	18: 65,306,136	V729I	probably benign	Het
Atf3	T	C	1: 191,171,655	N125D	probably damaging	Het
Bcat1	C	T	6: 145,019,219	G215D	probably damaging	Het
Bptf	G	T	11: 107,054,749	Q2555K	possibly damaging	Het
Cthrc1	A	G	15: 39,076,994		probably benign	Het
D6Wsu163e	C	T	6: 126,974,478		probably benign	Het
Dgkg	T	A	16: 22,622,253	E3D	probably benign	Het
Dnah8	G	T	17: 30,704,835	R1259L	probably benign	Het
Dnah9	A	G	11: 66,118,967	L698P	probably damaging	Het
Ebag9	A	C	15: 44,630,205	H141P	probably benign	Het
Emilin2	T	C	17: 71,256,531	R840G	probably benign	Het
Faap100	A	T	11: 120,372,131	H800Q	probably damaging	Het
Fh1	A	T	1: 175,609,735	I266N	probably damaging	Het
Fkbp15	A	G	4: 62,321,065		probably benign	Het
Gm17334	A	G	11: 53,772,828		probably benign	Het
Gm5773	G	T	3: 93,773,051	W10L	probably benign	Het
Gng13	T	C	17: 25,718,752	Y18H	probably damaging	Het
Hivep3	T	C	4: 120,133,641	S2113P	probably damaging	Het
Ift81	A	T	5: 122,610,185		probably benign	Het
Irak3	A	C	10: 120,176,242	L206V	probably damaging	Het
Kcng4	C	T	8: 119,633,053	A195T	probably benign	Het
Lrrc40	G	A	3: 158,041,665		probably benign	Het
Nars2	T	G	7: 97,039,893		probably null	Het
Nol8	T	C	13: 49,661,172	V234A	probably benign	Het
Olfr533	A	T	7: 140,466,440	K80*	probably null	Het
Olfr99	T	A	17: 37,280,304	N39Y	probably damaging	Het
Patz1	A	G	11: 3,291,761	Y383C	probably damaging	Het
Pdcd5	T	C	7: 35,643,664	Y152C	probably damaging	Het
Phkg1	A	G	5: 129,866,069	W214R	probably damaging	Het
Plxna1	A	G	6: 89,324,667	L1459P	probably damaging	Het
Pspc1	G	A	14: 56,771,760	P206S	probably benign	Het
St7	A	T	6: 17,848,031	N198I	probably damaging	Het
Supt3	A	G	17: 45,038,128	D249G	probably damaging	Het
Taf1c	T	C	8: 119,600,486	Y418C	probably damaging	Het
Tdrd6	A	G	17: 43,627,262	V965A	possibly damaging	Het
Ugt2b35	A	G	5: 87,011,321	N458S	probably benign	Het
Vmn1r8	A	G	6: 57,036,330	Y122C	probably benign	Het

Other mutations in Cyp2c38

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00508:Cyp2c38	APN	19	39460725	nonsense	probably null
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
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

2015-12-18