Mutagenetix > Incidental Mutations

Incidental Mutation 'R0684:Cyp2c38'

61093

Institutional Source

Beutler Lab

Gene Symbol

Cyp2c38

Ensembl Gene

ENSMUSG00000032808

Gene Name

cytochrome P450, family 2, subfamily c, polypeptide 38

Synonyms

MMRRC Submission

038869-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.090) question?

Stock #

R0684 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

39389556-39463075 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 39391056 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 450 (T450A)

Ref Sequence

ENSEMBL: ENSMUSP00000044722 (fasta)

Gene Model

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

AlphaFold

P56655

Predicted Effect

probably damaging
Transcript: ENSMUST00000035488
AA Change: T450A

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000044722
Gene: ENSMUSG00000032808
AA Change: T450A

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

0.3757

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.1%
20x: 88.8%

Validation Efficiency

100% (69/69)

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A630095E13Rik	C	T	9: 36,637,880	G28E	probably benign	Het
Adam4	A	T	12: 81,419,654	L731H	probably damaging	Het
Adora2b	C	T	11: 62,249,169	A23V	probably benign	Het
Ankrd17	T	C	5: 90,263,998	I1336V	probably damaging	Het
Asxl1	G	A	2: 153,397,522	R410H	probably damaging	Het
Atp8a2	T	C	14: 60,023,144	E419G	probably benign	Het
Atxn1l	A	T	8: 109,732,384	N415K	probably damaging	Het
Bcl2l12	T	A	7: 44,996,601	T65S	probably benign	Het
Bdh2	A	G	3: 135,291,013	I90V	probably benign	Het
Bsph1	T	A	7: 13,473,063	N121K	probably damaging	Het
Cd96	T	C	16: 46,117,790	Y104C	possibly damaging	Het
Chdh	T	C	14: 30,031,613	W160R	probably damaging	Het
Clock	A	G	5: 76,245,518	F193L	probably damaging	Het
Copz1	A	G	15: 103,296,531		probably null	Het
Cyp2d34	A	T	15: 82,617,550	I253K	probably benign	Het
Dhrs13	G	T	11: 78,036,963	A212S	probably damaging	Het
Ecsit	T	C	9: 22,076,500	N81S	probably benign	Het
Efl1	A	G	7: 82,651,886	T33A	probably damaging	Het
Emid1	T	C	11: 5,143,866	R92G	probably damaging	Het
Ermp1	A	G	19: 29,632,541		probably benign	Het
Fn1	A	T	1: 71,595,809		probably null	Het
Hps5	A	G	7: 46,783,469		probably null	Het
Hsd17b3	T	C	13: 64,089,068	M21V	probably benign	Het
Kat6b	T	C	14: 21,668,781	V1176A	probably benign	Het
Midn	A	G	10: 80,156,502	K463E	probably damaging	Het
Mier1	A	G	4: 103,139,434	E103G	probably damaging	Het
Muc15	A	G	2: 110,733,815	N232S	possibly damaging	Het
Ncoa2	T	A	1: 13,224,651	E15V	probably damaging	Het
Olfr136	A	G	17: 38,335,844	K229R	probably benign	Het
Olfr667	T	A	7: 104,916,634	T221S	probably benign	Het
Olfr713	A	T	7: 107,036,682	N176Y	probably damaging	Het
Pigf	A	T	17: 87,020,495	F115I	probably benign	Het
Prpsap1	A	T	11: 116,471,491	V355E	probably damaging	Het
Ptprk	G	T	10: 28,483,298		probably benign	Het
Rae1	G	A	2: 173,005,164	R67H	probably damaging	Het
Sema3a	G	A	5: 13,556,527		probably null	Het
Slc22a22	T	C	15: 57,263,362	T104A	probably benign	Het
Slc38a2	A	T	15: 96,695,287	L137*	probably null	Het
Smgc	A	G	15: 91,841,467		probably benign	Het
Syce3	A	G	15: 89,390,445		probably benign	Het
Syt9	T	A	7: 107,425,136	W79R	probably damaging	Het
Tgoln1	A	C	6: 72,615,991	S169A	probably benign	Het
Thnsl1	A	G	2: 21,211,666	D77G	probably benign	Het
Tsr1	T	A	11: 74,907,941	V712E	probably damaging	Het
Wdr12	C	T	1: 60,089,366		probably benign	Het
Xdh	T	A	17: 73,943,891	N22I	probably damaging	Het
Zfp3	T	A	11: 70,771,569	L118Q	probably benign	Het
Zfp592	A	G	7: 81,037,875	N883D	probably benign	Het
Zfp609	T	A	9: 65,731,201	M250L	probably benign	Het
Zfp94	A	T	7: 24,303,070	S316T	probably damaging	Het
Zfp955b	A	G	17: 33,302,973	N472S	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
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

Predicted Primers

PCR Primer
(F):5'- CATTTGTGCTATAACTCCAGAAACCGC -3'
(R):5'- GTCACCTATCCAATGACACCGTTCAG -3'

Sequencing Primer
(F):5'- CAGGATGGAAGATGCCTTATCCC -3'
(R):5'- ATGACACCGTTCAGTCATAATCTC -3'

Posted On

2013-07-30