Mutagenetix > Incidental Mutation

Incidental Mutation 'R1443:Cyp2c40'

158688

Institutional Source

Beutler Lab

Gene Symbol

Cyp2c40

Ensembl Gene

ENSMUSG00000025004

Gene Name

cytochrome P450, family 2, subfamily c, polypeptide 40

Synonyms

MMRRC Submission

039498-MU

Accession Numbers

Essential gene?

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

Stock #

R1443 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

39767071-39812814 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 39777971 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 393 (N393K)

Ref Sequence

ENSEMBL: ENSMUSP00000125217 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000160476] [ENSMUST00000162630]

AlphaFold

P56657

Predicted Effect

possibly damaging
Transcript: ENSMUST00000160476
AA Change: N393K

PolyPhen 2 Score 0.897 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000125217
Gene: ENSMUSG00000025004
AA Change: N393K

Domain	Start	End	E-Value	Type
low complexity region	5	21	N/A	INTRINSIC
transmembrane domain	32	49	N/A	INTRINSIC
Pfam:p450	59	516	9.8e-153	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000162630

SMART Domains

Protein: ENSMUSP00000123884
Gene: ENSMUSG00000025004

Domain	Start	End	E-Value	Type
low complexity region	5	21	N/A	INTRINSIC
transmembrane domain	32	49	N/A	INTRINSIC
Pfam:p450	59	193	6.6e-33	PFAM

Coding Region Coverage

1x: 98.8%
3x: 97.7%
10x: 94.2%
20x: 85.7%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610507B11Rik	T	A	11: 78,262,798	S56R	probably damaging	Het
Actr8	A	G	14: 29,984,099	M99V	possibly damaging	Het
Adamtsl2	T	A	2: 27,103,066	C703S	possibly damaging	Het
Afap1	G	T	5: 35,968,661	K333N	probably damaging	Het
Aldh3a2	G	A	11: 61,264,307	S137L	probably damaging	Het
Alkbh2	C	T	5: 114,124,226	E148K	probably damaging	Het
Aoc1	A	T	6: 48,905,445	K107M	possibly damaging	Het
Bmp8a	G	T	4: 123,316,965	S252R	possibly damaging	Het
C7	T	C	15: 5,059,419	I13M	probably benign	Het
Cblb	T	A	16: 52,139,611	D322E	possibly damaging	Het
Cfap54	G	A	10: 92,932,721	T180I	probably damaging	Het
Clrn2	C	T	5: 45,460,111	A108V	probably damaging	Het
Cspg4	T	A	9: 56,886,512	D510E	probably damaging	Het
Dcaf5	T	C	12: 80,364,069	Y294C	probably damaging	Het
Dclk3	T	A	9: 111,469,020	M544K	probably benign	Het
Doxl2	A	T	6: 48,975,915	Y258F	probably damaging	Het
Ell3	A	T	2: 121,439,465	F388I	probably damaging	Het
Fam208b	T	C	13: 3,575,543	K1469R	probably benign	Het
Fam78b	A	G	1: 167,078,760	I163V	probably damaging	Het
Gnptab	T	C	10: 88,434,081	L882P	probably damaging	Het
Herc2	A	T	7: 56,204,733	D3802V	possibly damaging	Het
Hs3st5	A	G	10: 36,833,414	E315G	probably benign	Het
Idh3b	A	T	2: 130,284,054		probably null	Het
Lama4	G	A	10: 39,073,643	E911K	probably damaging	Het
Macf1	A	G	4: 123,511,007	I436T	probably damaging	Het
Mgam	C	A	6: 40,759,780	S871*	probably null	Het
Mtmr7	A	G	8: 40,560,882	S212P	probably damaging	Het
Mylk2	A	G	2: 152,919,416	T480A	probably damaging	Het
Myo3a	A	T	2: 22,282,626	N191I	probably damaging	Het
Nanog	C	T	6: 122,711,775	S105F	probably damaging	Het
Nanos2	A	G	7: 18,987,639	Y12C	probably damaging	Het
Nsg1	C	T	5: 38,155,643	V71I	probably benign	Het
Olfr1368	C	T	13: 21,142,167	V297I	probably benign	Het
Olfr1458	G	T	19: 13,103,204	Y33*	probably null	Het
Olfr1512	A	T	14: 52,372,951	I34N	probably damaging	Het
Olfr211	T	C	6: 116,494,425	L272S	probably benign	Het
Olfr643	A	T	7: 104,058,723	I293N	probably damaging	Het
Pcdhb17	A	G	18: 37,486,648	Q497R	probably benign	Het
Pcsk7	C	A	9: 45,925,986	P536Q	probably damaging	Het
Phactr4	G	A	4: 132,377,248	T256I	probably benign	Het
Phyhip	A	G	14: 70,467,291	K317E	probably damaging	Het
Pkhd1	C	T	1: 20,534,558	G1178R	probably damaging	Het
Ppp1r9a	G	A	6: 5,057,557	G544D	probably damaging	Het
Ptpn3	T	C	4: 57,225,775	D480G	probably benign	Het
Ptprn2	A	T	12: 117,253,615	K918N	probably damaging	Het
Rab42	T	C	4: 132,302,347	D188G	probably benign	Het
Rasgrf2	C	A	13: 91,983,676	D20Y	probably damaging	Het
Ryr2	G	A	13: 11,779,266	T942I	probably benign	Het
Sbpl	T	C	17: 23,953,354	K197R	unknown	Het
Slc44a1	T	A	4: 53,561,069	V595E	probably damaging	Het
Slc6a19	A	G	13: 73,684,344	M410T	probably damaging	Het
Sntb1	A	T	15: 55,647,955	L411H	probably damaging	Het
Synj2	A	G	17: 6,023,665	K245E	probably damaging	Het
Tmem131	G	A	1: 36,825,478	T558I	probably damaging	Het
Tnrc18	A	T	5: 142,771,533	S1078T	unknown	Het
Trmu	T	A	15: 85,897,101		probably null	Het
Ttn	A	T	2: 76,891,086		probably benign	Het
Tyw3	T	C	3: 154,587,523	T172A	probably benign	Het
Vldlr	T	C	19: 27,239,721	I348T	possibly damaging	Het
Zfp114	A	G	7: 24,177,769	D12G	probably damaging	Het

Other mutations in Cyp2c40

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01384:Cyp2c40	APN	19	39812583	missense	probably benign	0.17
IGL01660:Cyp2c40	APN	19	39786810	missense	probably damaging	0.99
IGL01897:Cyp2c40	APN	19	39803773	nonsense	probably null
IGL01926:Cyp2c40	APN	19	39802655	missense	probably benign	0.25
IGL02078:Cyp2c40	APN	19	39767482	missense	probably benign	0.01
IGL02259:Cyp2c40	APN	19	39803802	missense	probably benign	0.00
IGL02716:Cyp2c40	APN	19	39807536	missense	possibly damaging	0.49
cypriot	UTSW	19	39767455	missense	probably damaging	0.98
R0269:Cyp2c40	UTSW	19	39773896	missense	probably damaging	1.00
R0308:Cyp2c40	UTSW	19	39777988	missense	probably damaging	1.00
R0309:Cyp2c40	UTSW	19	39778051	missense	possibly damaging	0.51
R0441:Cyp2c40	UTSW	19	39807163	splice site	probably benign
R1068:Cyp2c40	UTSW	19	39812581	missense	possibly damaging	0.93
R1123:Cyp2c40	UTSW	19	39812677	missense	probably benign	0.00
R1506:Cyp2c40	UTSW	19	39777999	missense	probably damaging	0.96
R1567:Cyp2c40	UTSW	19	39803771	missense	probably null	0.99
R1731:Cyp2c40	UTSW	19	39812689	missense	probably damaging	1.00
R1774:Cyp2c40	UTSW	19	39786806	missense	probably damaging	1.00
R1861:Cyp2c40	UTSW	19	39786875	missense	probably benign	0.11
R1977:Cyp2c40	UTSW	19	39778041	missense	probably damaging	1.00
R2022:Cyp2c40	UTSW	19	39812780	unclassified	probably benign
R2063:Cyp2c40	UTSW	19	39786780	missense	probably benign	0.01
R2359:Cyp2c40	UTSW	19	39777954	missense	probably damaging	1.00
R2413:Cyp2c40	UTSW	19	39803887	nonsense	probably null
R3685:Cyp2c40	UTSW	19	39786779	missense	possibly damaging	0.95
R4080:Cyp2c40	UTSW	19	39802529	missense	probably benign	0.01
R4614:Cyp2c40	UTSW	19	39803856	missense	probably damaging	1.00
R4661:Cyp2c40	UTSW	19	39786846	missense	probably benign	0.00
R4716:Cyp2c40	UTSW	19	39802661	splice site	probably null
R4799:Cyp2c40	UTSW	19	39773849	missense	probably damaging	1.00
R5133:Cyp2c40	UTSW	19	39807219	missense	probably benign	0.02
R5191:Cyp2c40	UTSW	19	39802591	missense	probably damaging	0.96
R5310:Cyp2c40	UTSW	19	39778030	missense	probably damaging	1.00
R5455:Cyp2c40	UTSW	19	39803792	missense	possibly damaging	0.75
R5619:Cyp2c40	UTSW	19	39803784	missense	probably damaging	1.00
R5989:Cyp2c40	UTSW	19	39807580	missense	probably benign	0.45
R6175:Cyp2c40	UTSW	19	39812560	missense	probably benign	0.00
R6622:Cyp2c40	UTSW	19	39802546	missense	probably damaging	1.00
R6987:Cyp2c40	UTSW	19	39812767	unclassified	probably benign
R7057:Cyp2c40	UTSW	19	39807619	missense	probably damaging	1.00
R7485:Cyp2c40	UTSW	19	39807606	nonsense	probably null
R7560:Cyp2c40	UTSW	19	39807214	missense	possibly damaging	0.81
R7648:Cyp2c40	UTSW	19	39803845	makesense	probably null
R7718:Cyp2c40	UTSW	19	39767338	missense	probably benign	0.00
R7763:Cyp2c40	UTSW	19	39807168	missense	possibly damaging	0.90
R7893:Cyp2c40	UTSW	19	39786848	missense	probably damaging	0.99
R8094:Cyp2c40	UTSW	19	39802565	missense	probably benign	0.17
R8094:Cyp2c40	UTSW	19	39802571	missense	probably benign	0.00
R8264:Cyp2c40	UTSW	19	39807527	missense	possibly damaging	0.95
R8287:Cyp2c40	UTSW	19	39767455	missense	probably damaging	0.98
R8302:Cyp2c40	UTSW	19	39807622	missense	probably damaging	1.00
R8848:Cyp2c40	UTSW	19	39812800	missense	unknown
R8915:Cyp2c40	UTSW	19	39807547	missense	probably benign	0.31
R8963:Cyp2c40	UTSW	19	39767482	missense	possibly damaging	0.82
R9132:Cyp2c40	UTSW	19	39773873	missense	probably damaging	1.00
R9159:Cyp2c40	UTSW	19	39773873	missense	probably damaging	1.00
R9168:Cyp2c40	UTSW	19	39767375	missense	probably benign
R9486:Cyp2c40	UTSW	19	39767364	missense	probably benign	0.00
R9486:Cyp2c40	UTSW	19	39807606	nonsense	probably null
R9489:Cyp2c40	UTSW	19	39777999	missense	probably damaging	1.00
R9605:Cyp2c40	UTSW	19	39777999	missense	probably damaging	1.00
R9772:Cyp2c40	UTSW	19	39803904	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- AGCTTCTTTCTCAGTTGTGAGCCTG -3'
(R):5'- GCTGTTGGTGATGAACCTGACCAC -3'

Sequencing Primer
(F):5'- CAGTTGTGAGCCTGCATAAAAAATG -3'
(R):5'- GAGATACGGGCTACATTTTTCC -3'

Posted On

2014-03-14