Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02187:Cyp2c38'

283706

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: 0.081) question?

Stock #

IGL02187

Quality Score

Status

Chromosome

Chromosomal Location

39389556-39463075 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 39436205 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 223 (I223T)

Ref Sequence

ENSEMBL: ENSMUSP00000044722 (fasta)

Gene Model

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

AlphaFold

P56655

Predicted Effect

probably benign
Transcript: ENSMUST00000035488
AA Change: I223T

PolyPhen 2 Score 0.141 (Sensitivity: 0.92; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000044722
Gene: ENSMUSG00000032808
AA Change: I223T

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: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts18	C	A	8: 113,713,194	E922D	possibly damaging	Het
Asxl3	T	A	18: 22,524,978	M2015K	probably damaging	Het
C8a	C	A	4: 104,862,736	R15L	probably damaging	Het
Catsperg2	A	G	7: 29,721,366	V47A	probably benign	Het
Ccdc84	C	T	9: 44,410,787		probably benign	Het
Cdhr2	C	T	13: 54,733,710	T1081I	possibly damaging	Het
Cep85	T	A	4: 134,131,305	M752L	possibly damaging	Het
Cxcr3	T	A	X: 101,732,877	S60C	probably damaging	Het
Cyp24a1	T	A	2: 170,494,093	N208I	probably damaging	Het
Dennd6a	A	G	14: 26,606,926	I35V	probably benign	Het
Emb	T	G	13: 117,268,971		probably benign	Het
Fbxo3	T	C	2: 104,027,950	Y30H	probably damaging	Het
Fnbp1l	G	A	3: 122,568,800	R120*	probably null	Het
Galnt2	T	C	8: 124,305,506		probably benign	Het
Gckr	T	C	5: 31,307,424		probably benign	Het
Gpr101	A	G	X: 57,501,481	F103S	probably damaging	Het
Gprasp1	T	A	X: 135,799,163	V35E	probably damaging	Het
Ift80	C	A	3: 68,985,456	W133L	probably damaging	Het
Impdh1	C	A	6: 29,207,087		probably benign	Het
Ino80	T	C	2: 119,445,457		probably benign	Het
Kansl1	A	T	11: 104,378,831		probably null	Het
Klhl20	C	T	1: 161,109,710	V32I	probably benign	Het
Lrfn3	A	G	7: 30,355,964	S519P	probably damaging	Het
Mrpl51	A	G	6: 125,193,331	N100S	probably benign	Het
Mybpc3	T	C	2: 91,135,452	I1203T	probably benign	Het
Nbr1	A	G	11: 101,569,359	I394V	possibly damaging	Het
Nfasc	G	A	1: 132,570,481	T1155M	probably damaging	Het
Olfr854	T	A	9: 19,567,097	T96S	probably benign	Het
Pan3	T	C	5: 147,526,588	I440T	probably benign	Het
Patz1	T	C	11: 3,291,134	L174P	probably damaging	Het
Paxx	A	G	2: 25,460,656	L62P	probably damaging	Het
Plekhh1	T	C	12: 79,072,818	S972P	probably damaging	Het
Ppp1r13b	G	T	12: 111,835,038	T404K	probably damaging	Het
Prkaa2	T	C	4: 105,047,166	N238S	probably benign	Het
Prpf6	T	C	2: 181,616,016	Y94H	probably damaging	Het
Rtn4	T	C	11: 29,708,291	I815T	possibly damaging	Het
Slc44a5	A	G	3: 154,262,917	T582A	probably benign	Het
Slitrk3	A	G	3: 73,050,272	L389S	probably damaging	Het
Srp54b	T	A	12: 55,252,775	M297K	probably benign	Het
Zfp318	C	T	17: 46,396,810	R265*	probably null	Het
Zmym4	T	A	4: 126,870,273	I1325L	probably damaging	Het
Zswim2	C	A	2: 83,923,638	R226L	probably damaging	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
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

2015-04-16