Mutagenetix > Incidental Mutation

Incidental Mutation 'R7763:Cyp2c40'

598097

Institutional Source

Beutler Lab

Gene Symbol

Cyp2c40

Ensembl Gene

ENSMUSG00000025004

Gene Name

cytochrome P450, family 2, subfamily c, polypeptide 40

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.144) question?

Stock #

R7763 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

39767071-39812814 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 39807168 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Isoleucine at position 189 (N189I)

Ref Sequence

ENSEMBL: ENSMUSP00000125217 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000160476] [ENSMUST00000162507] [ENSMUST00000162630]

AlphaFold

P56657

Predicted Effect

possibly damaging
Transcript: ENSMUST00000160476
AA Change: N189I

PolyPhen 2 Score 0.896 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000125217
Gene: ENSMUSG00000025004
AA Change: N189I

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: ENSMUST00000162507

SMART Domains

Protein: ENSMUSP00000124618
Gene: ENSMUSG00000025004

Domain	Start	End	E-Value	Type
signal peptide	1	25	N/A	INTRINSIC
Pfam:p450	30	120	3.1e-13	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000162630
AA Change: N189I

PolyPhen 2 Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000123884
Gene: ENSMUSG00000025004
AA Change: N189I

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: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 111 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca16	T	A	7: 120,514,602	W899R	probably damaging	Het
Abca5	A	T	11: 110,272,497	W1631R	possibly damaging	Het
Actg2	T	A	6: 83,527,368	D25V	probably damaging	Het
Akap10	G	C	11: 61,915,505	D132E	probably damaging	Het
Angptl2	G	T	2: 33,242,382	E334*	probably null	Het
Aprt	T	C	8: 122,574,935	R165G	probably benign	Het
B020004J07Rik	T	C	4: 101,837,141	I182V	possibly damaging	Het
Bmp1	A	G	14: 70,492,084	F549S	probably damaging	Het
Capzb	C	T	4: 139,280,553	T215I	probably benign	Het
Car14	C	T	3: 95,904,372	M1I	probably null	Het
Ccdc148	T	A	2: 58,823,636	Q501L	probably benign	Het
Ccdc32	G	A	2: 119,027,347	T12I	probably damaging	Het
Ccnf	G	A	17: 24,225,012	S594L	probably damaging	Het
Cdadc1	C	T	14: 59,573,834	C409Y	probably damaging	Het
Cdh23	G	T	10: 60,312,577	S2670R	probably damaging	Het
Cdh8	T	A	8: 99,279,674	K94*	probably null	Het
Cdhr2	A	T	13: 54,717,692	Y193F	probably damaging	Het
Cdon	T	A	9: 35,454,415	Y153*	probably null	Het
Chd1	G	A	17: 15,733,041	G413R	probably damaging	Het
Cit	A	T	5: 115,987,001	T1582S	probably benign	Het
Clec4a3	T	C	6: 122,964,340	L98P	probably benign	Het
Cpa4	T	A	6: 30,583,645	D253E	probably damaging	Het
Cyhr1	A	T	15: 76,658,547	Y138N	probably damaging	Het
Daam2	G	T	17: 49,490,022	A245E	probably benign	Het
Dennd5b	A	G	6: 149,068,658	F121S	probably damaging	Het
Dgkd	A	G	1: 87,926,949	T658A	probably benign	Het
Dmwd	T	A	7: 19,080,340	L305Q	probably damaging	Het
Dnah5	A	T	15: 28,313,855	Y1939F	probably damaging	Het
Dock5	T	C	14: 67,821,327	T512A	probably damaging	Het
Dopey2	T	A	16: 93,755,514	D398E	probably benign	Het
Eef1akmt4	A	G	16: 20,618,529	H207R	probably damaging	Het
Egfr	T	C	11: 16,891,266	V719A	probably damaging	Het
Ep300	A	T	15: 81,586,583		probably benign	Het
Epha4	A	G	1: 77,390,031		probably null	Het
Erc2	T	G	14: 27,876,204		probably null	Het
Ergic1	A	T	17: 26,638,827	Y209F	possibly damaging	Het
Fbxw28	A	G	9: 109,326,633	I357T	probably damaging	Het
Flnb	A	T	14: 7,926,478	T1841S	probably benign	Het
Foxc1	G	A	13: 31,808,028	S274N	probably benign	Het
Fto	C	T	8: 91,409,443	T115M	probably damaging	Het
Gm10228	C	G	16: 89,041,299	C39S	unknown	Het
Gm7334	T	C	17: 50,698,715	F10L	possibly damaging	Het
Hfm1	A	G	5: 106,881,861	Y785H	probably damaging	Het
Hivep1	T	A	13: 42,159,461	S1726T	probably benign	Het
Htt	G	T	5: 34,852,190	C1505F	probably damaging	Het
Hydin	T	C	8: 110,505,843	S1665P	possibly damaging	Het
Ifi209	T	A	1: 173,642,879	N344K	probably damaging	Het
Ifnar2	T	C	16: 91,399,293	M262T	probably benign	Het
Ighv7-3	T	A	12: 114,153,207	S112C	probably damaging	Het
Igkv4-86	A	G	6: 68,910,579	S59P	probably benign	Het
Iglv1	A	G	16: 19,085,489		probably benign	Het
Ipo7	T	A	7: 110,052,799	D928E	possibly damaging	Het
Itgae	G	T	11: 73,123,269		probably null	Het
Kbtbd12	T	A	6: 88,618,197	Q217L	probably benign	Het
Kcnma1	T	A	14: 23,300,006	Y1155F	possibly damaging	Het
Kif14	A	G	1: 136,516,383	E1371G	probably benign	Het
Lilrb4a	A	T	10: 51,491,046	Y10F	probably benign	Het
Lrp2	A	T	2: 69,503,388	V1503E	probably damaging	Het
Mfsd6	A	T	1: 52,708,640	D355E	probably benign	Het
Mri1	T	C	8: 84,251,028	H226R		Het
Mroh4	C	T	15: 74,624,705	E278K	probably damaging	Het
Muc4	T	A	16: 32,753,311	L1063H	probably benign	Het
Mzf1	A	T	7: 13,044,091	I541N	probably damaging	Het
Nasp	T	A	4: 116,612,033	E116D	probably benign	Het
Nlrp10	T	A	7: 108,925,826	E149V	probably damaging	Het
Notch4	G	A	17: 34,582,418	C1080Y	probably damaging	Het
Nova1	T	G	12: 46,720,698	I147L	unknown	Het
Ogdh	A	G	11: 6,338,558	M223V	probably benign	Het
Olfr1391	G	T	11: 49,327,671	A87S	probably benign	Het
Olfr444	T	C	6: 42,955,789	I97T	probably benign	Het
Olfr732	A	T	14: 50,281,488	I255N	probably damaging	Het
Olfr792	G	T	10: 129,541,455	R306L	probably benign	Het
P3h3	T	C	6: 124,854,432	Q330R	probably benign	Het
Pcdhb10	A	G	18: 37,411,882	T4A	not run	Het
Pkd2l2	A	T	18: 34,433,287		probably null	Het
Plekhb1	C	T	7: 100,645,663	V168I	probably benign	Het
Plxna4	C	T	6: 32,223,980	R753H	probably damaging	Het
Prex1	G	C	2: 166,713,709	P4A	unknown	Het
Ptgdr	A	G	14: 44,859,078	V59A	probably damaging	Het
Ralgapa1	T	A	12: 55,757,955	I519F	probably benign	Het
Rbpms	A	G	8: 33,789,453	I170T	probably benign	Het
Sec31b	T	A	19: 44,523,835		probably null	Het
Skint11	A	T	4: 114,227,708	Y138F	probably benign	Het
Slain2	A	G	5: 72,948,610	Y196C	probably damaging	Het
Slco1b2	T	A	6: 141,676,224	C503*	probably null	Het
Slfn3	A	T	11: 83,214,788	Y537F	possibly damaging	Het
Slu7	T	C	11: 43,444,765	Y443H	probably damaging	Het
Sorl1	T	A	9: 42,043,909	E683D	probably damaging	Het
Sos1	T	A	17: 80,413,713	I893L	probably benign	Het
St8sia2	T	A	7: 73,943,321	Y329F	probably damaging	Het
Stra6l	C	A	4: 45,869,570	S212*	probably null	Het
Syne3	C	T	12: 104,997,495		probably benign	Het
Tenm4	T	A	7: 96,895,692	I2342N	probably benign	Het
Tescl	T	A	7: 24,333,263	E212D	probably benign	Het
Trip11	A	G	12: 101,844,855	S1879P	probably benign	Het
Ube2c	A	T	2: 164,771,291		probably null	Het
Umodl1	T	A	17: 30,986,456	I675N	probably benign	Het
Vipr2	T	C	12: 116,122,718	F121S	probably damaging	Het
Vmn1r206	A	T	13: 22,620,669	S123T	possibly damaging	Het
Vmn1r58	A	G	7: 5,410,913	V106A	probably damaging	Het
Vmn2r112	A	G	17: 22,603,118	Y259C	probably damaging	Het
Vmn2r66	T	C	7: 85,005,701	K467E	probably benign	Het
Vmn2r98	T	C	17: 19,080,535	F600L	probably benign	Het
Vps13a	T	A	19: 16,746,000	N278I	possibly damaging	Het
Vwa5a	A	C	9: 38,741,162	D747A	possibly damaging	Het
Xdh	G	A	17: 73,934,834	P157S	possibly damaging	Het
Xrn1	G	A	9: 95,998,348		probably null	Het
Zfp362	T	A	4: 128,787,031	H180L	probably benign	Het
Zfp560	A	T	9: 20,347,323	W748R	possibly damaging	Het
Zfp808	A	T	13: 62,172,664	Q569L	probably benign	Het
Zfp93	T	A	7: 24,275,218	D209E	possibly 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
R1443:Cyp2c40	UTSW	19	39777971	missense	possibly damaging	0.90
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
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'- GAACAAGTGACATTTGTGATCAGGG -3'
(R):5'- GGCTCTATAAATCTGCCACCTG -3'

Sequencing Primer
(F):5'- CATTTGTGATCAGGGAAATTTATGGC -3'
(R):5'- ATAAATCTGCCACCTGTTAGCTC -3'

Posted On

2019-11-26