Mutagenetix > Incidental Mutations

Incidental Mutation 'R3084:Cyp2c38'

265552

Institutional Source

Beutler Lab

Gene Symbol

Cyp2c38

Ensembl Gene

ENSMUSG00000032808

Gene Name

cytochrome P450, family 2, subfamily c, polypeptide 38

Synonyms

MMRRC Submission

040573-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.080) question?

Stock #

R3084 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

39389556-39463075 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 39401701 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 352 (I352V)

Ref Sequence

ENSEMBL: ENSMUSP00000044722 (fasta)

Gene Model

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

AlphaFold

P56655

Predicted Effect

probably benign
Transcript: ENSMUST00000035488
AA Change: I352V

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000044722
Gene: ENSMUSG00000032808
AA Change: I352V

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.5%

Validation Efficiency

100% (43/43)

Allele List at MGI

Other mutations in this stock

Total: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgra3	A	T	5: 50,013,391		probably null	Het
Alms1	A	G	6: 85,678,140	R3223G	probably benign	Het
Arhgef26	T	C	3: 62,377,616	V431A	probably benign	Het
Cabyr	T	C	18: 12,750,966	V170A	probably damaging	Het
Cenpe	A	G	3: 135,241,021	E1099G	probably damaging	Het
Creb3l1	G	T	2: 91,995,444		probably null	Het
Dhrs2	G	T	14: 55,239,844	V179L	probably benign	Het
Dhx9	T	C	1: 153,465,699	D601G	probably benign	Het
Dlg5	T	C	14: 24,166,190	T595A	probably damaging	Het
Fam160a1	T	A	3: 85,665,968		probably null	Het
Frk	G	A	10: 34,607,954	G437D	probably damaging	Het
Gm10608	CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	9: 119,160,716		probably null	Het
Gm5699	G	T	1: 30,998,792		noncoding transcript	Het
Gsg1l	C	T	7: 125,891,680	R284H	probably benign	Het
Ifit3	A	T	19: 34,587,240	H62L	probably damaging	Het
Krt34	T	C	11: 100,041,021	N124S	probably damaging	Het
Megf8	T	A	7: 25,349,019	Y1706N	probably damaging	Het
Mmd	C	T	11: 90,266,085	R129C	probably damaging	Het
Olfr1280	A	G	2: 111,316,116	I212M	probably benign	Het
Olfr1313	C	A	2: 112,071,975	G203*	probably null	Het
Pde6d	T	C	1: 86,547,526		probably null	Het
Pomt1	G	T	2: 32,244,240	V258L	probably benign	Het
Ppp2r5e	T	C	12: 75,468,616	I215V	probably benign	Het
Ranbp10	A	T	8: 105,774,631	L329Q	probably damaging	Het
Robo1	T	A	16: 73,004,737	L1083Q	probably benign	Het
Rsph4a	G	C	10: 33,909,202	V370L	probably damaging	Het
Smarcc2	T	C	10: 128,488,159		probably benign	Het
Sun1	T	C	5: 139,235,601	V357A	probably benign	Het
Svop	T	C	5: 114,042,238	T283A	probably benign	Het
Tep1	A	T	14: 50,827,054		probably null	Het
Tet1	T	C	10: 62,879,621	K132E	probably benign	Het
Tex15	A	T	8: 33,574,885	N1448Y	probably benign	Het
Tktl2	T	A	8: 66,513,206	M472K	possibly damaging	Het
Tnrc6b	T	G	15: 80,880,247	L650W	probably damaging	Het
Ttf2	C	T	3: 100,948,264	G872R	possibly damaging	Het
Vmn1r17	A	G	6: 57,360,783	V199A	probably damaging	Het
Vmn1r178	A	G	7: 23,893,906	I126M	possibly damaging	Het
Vmn2r85	T	C	10: 130,425,212	M419V	probably benign	Het
Washc2	A	G	6: 116,227,493	N454S	probably benign	Het
Xirp2	T	G	2: 67,509,049	F545V	probably damaging	Het
Zfyve26	G	T	12: 79,265,683		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
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
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

Predicted Primers

PCR Primer
(F):5'- GATCTGCCCTCTGAACCATAAAGC -3'
(R):5'- CTTATATTGCGTTGTGTATAGCCTGAC -3'

Sequencing Primer
(F):5'- CCTGTACCACAATGTATATCAGAGG -3'
(R):5'- CGTTGTGTATAGCCTGACATTGTAAC -3'

Posted On

2015-02-05