Mutagenetix > Incidental Mutations

Incidental Mutation 'R4867:Cyp4f16'

376278

Institutional Source

Beutler Lab

Gene Symbol

Cyp4f16

Ensembl Gene

ENSMUSG00000048440

Gene Name

cytochrome P450, family 4, subfamily f, polypeptide 16

Synonyms

MMRRC Submission

042477-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4867 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

32536558-32551798 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 32550750 bp

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 445 (F445L)

Ref Sequence

ENSEMBL: ENSMUSP00000131058 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000003416] [ENSMUST00000165515] [ENSMUST00000169252] [ENSMUST00000169591]

Predicted Effect

possibly damaging
Transcript: ENSMUST00000003416
AA Change: F445L

PolyPhen 2 Score 0.942 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000003416
Gene: ENSMUSG00000048440
AA Change: F445L

Domain	Start	End	E-Value	Type
Pfam:p450	52	515	4.7e-133	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000165515

SMART Domains

Protein: ENSMUSP00000126845
Gene: ENSMUSG00000048440

Domain	Start	End	E-Value	Type
transmembrane domain	15	37	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000168285

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000168346

Predicted Effect

probably benign
Transcript: ENSMUST00000169252

SMART Domains

Protein: ENSMUSP00000128349
Gene: ENSMUSG00000048440

Domain	Start	End	E-Value	Type
signal peptide	1	36	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000169591
AA Change: F445L

PolyPhen 2 Score 0.942 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000131058
Gene: ENSMUSG00000048440
AA Change: F445L

Domain	Start	End	E-Value	Type
Pfam:p450	52	515	4.7e-133	PFAM

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310022B05Rik	T	C	8: 124,639,360	I215V	probably damaging	Het
4921509C19Rik	A	T	2: 151,472,822	L312*	probably null	Het
9930111J21Rik1	T	A	11: 48,948,548		probably null	Het
Abca6	C	A	11: 110,202,379	V1023F	probably benign	Het
Ablim2	C	T	5: 35,802,422	R73C	possibly damaging	Het
Acsbg2	A	G	17: 56,862,914	I151T	possibly damaging	Het
Arhgap8	G	T	15: 84,740,766	L46F	probably benign	Het
Arid1a	G	A	4: 133,720,857	S115L	probably benign	Het
B4galnt2	T	C	11: 95,868,426	D344G	probably damaging	Het
BC005561	T	C	5: 104,521,002	I1130T	possibly damaging	Het
Ccdc40	T	C	11: 119,231,788	S139P	probably benign	Het
Ccnjl	T	C	11: 43,583,228	V210A	possibly damaging	Het
Cdk5rap1	C	T	2: 154,370,956		probably null	Het
Cog4	T	C	8: 110,866,610	V451A	probably damaging	Het
Crb1	A	T	1: 139,243,014	N818K	probably damaging	Het
Crtc1	T	C	8: 70,402,514	D152G	probably damaging	Het
Cse1l	T	A	2: 166,926,403	I207N	possibly damaging	Het
Cux1	TGGCAGGCGCG	TG	5: 136,274,961		probably benign	Het
Cyp2j13	T	C	4: 96,058,998	Y272C	possibly damaging	Het
Dlc1	T	C	8: 36,584,645	H644R	probably benign	Het
Ecm2	A	T	13: 49,531,345	I643F	probably damaging	Het
Eogt	A	T	6: 97,120,147		probably benign	Het
Fbxo41	A	C	6: 85,475,194	S777A	probably benign	Het
Fga	T	A	3: 83,028,644	D59E	probably benign	Het
Flt3	A	T	5: 147,334,440	V897D	probably damaging	Het
Fmn1	G	T	2: 113,584,120		probably null	Het
Frem3	T	C	8: 80,613,283	L735P	probably damaging	Het
Ftmt	A	T	18: 52,332,053	D147V	possibly damaging	Het
Gabpa	T	A	16: 84,857,468	D344E	probably benign	Het
Gm4788	A	T	1: 139,774,475		probably null	Het
Gtf3a	C	T	5: 146,951,913	Q145*	probably null	Het
Il1f5	A	T	2: 24,280,835	N48I	probably damaging	Het
Iqca	A	G	1: 90,089,504	L403S	probably benign	Het
Jrk	C	T	15: 74,707,220	R72Q	probably benign	Het
Kif19a	G	A	11: 114,767,227	M37I	probably benign	Het
Krt12	T	C	11: 99,416,963	D433G	possibly damaging	Het
Lce1h	A	T	3: 92,763,463	S127R	unknown	Het
Lrrc7	T	G	3: 158,161,005	Y1033S	probably damaging	Het
Macf1	A	G	4: 123,472,200	S1358P	probably damaging	Het
Mfsd1	T	A	3: 67,587,987		probably null	Het
Mki67	T	C	7: 135,699,856	T1150A	probably damaging	Het
Nadk2	A	G	15: 9,098,857	I291M	possibly damaging	Het
Olfr309	T	C	7: 86,306,283	T277A	probably benign	Het
Olfr340	A	C	2: 36,453,199	M205L	probably benign	Het
Olfr456	A	G	6: 42,487,097	V32A	probably benign	Het
Olfr49	T	A	14: 54,282,629	T89S	probably benign	Het
Olfr829	A	T	9: 18,857,566	I305F	probably benign	Het
Parp14	T	A	16: 35,857,327	Y757F	probably benign	Het
Pcdh18	T	C	3: 49,754,664	Y734C	probably damaging	Het
Pcnx4	T	C	12: 72,573,952	S849P	probably benign	Het
Pds5a	T	C	5: 65,644,120	K595E	probably damaging	Het
Prkg2	T	A	5: 99,024,709	Y49F	probably benign	Het
Ptgdr	G	T	14: 44,858,796	P153Q	probably damaging	Het
Rbm12b2	T	C	4: 12,094,805	S555P	probably damaging	Het
Rhog	T	G	7: 102,240,150	Y32S	probably damaging	Het
Rnf141	T	C	7: 110,816,768	T209A	probably damaging	Het
Rtkn2	T	C	10: 68,001,927	I103T	probably damaging	Het
Scn5a	G	T	9: 119,550,671	C182*	probably null	Het
Sema3a	A	G	5: 13,451,241	N84D	probably benign	Het
Sema5a	G	T	15: 32,550,290	M158I	possibly damaging	Het
Shprh	T	A	10: 11,164,557	D71E	probably benign	Het
Slc26a8	A	G	17: 28,663,634	I239T	probably benign	Het
Slco4c1	G	A	1: 96,841,228	P303L	probably damaging	Het
Ston1	C	T	17: 88,635,694	A176V	probably damaging	Het
Sult2a5	T	C	7: 13,624,051	S3P	probably benign	Het
Tango6	T	A	8: 106,818,526	V1007E	probably damaging	Het
Tank	G	A	2: 61,578,635		probably benign	Het
Tas2r124	A	G	6: 132,755,193	Y155C	probably damaging	Het
Tenm3	G	A	8: 48,235,821	R2244W	probably damaging	Het
Tlk1	A	T	2: 70,721,571	Y585*	probably null	Het
Tmem221	C	T	8: 71,555,140	E214K	probably benign	Het
Tmem38a	T	C	8: 72,581,233	V172A	possibly damaging	Het
Tspo2	C	T	17: 48,448,677	A146T	possibly damaging	Het
Ttc3	G	A	16: 94,454,515	A1268T	probably damaging	Het
Usp25	T	A	16: 77,050,467	D154E	probably damaging	Het
Usp34	T	C	11: 23,451,999	F2410L	probably benign	Het
Vmn1r128	T	A	7: 21,350,014	H214Q	possibly damaging	Het
Vmn1r24	A	C	6: 57,956,436	C32W	probably damaging	Het
Zfp931	T	A	2: 178,068,062	H177L	probably damaging	Het
Znrf1	T	C	8: 111,537,566		probably null	Het

Other mutations in Cyp4f16

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02941:Cyp4f16	APN	17	32537087	missense	possibly damaging	0.75
IGL03400:Cyp4f16	APN	17	32550353	missense	probably benign	0.00
R0437:Cyp4f16	UTSW	17	32537098	missense	possibly damaging	0.46
R0454:Cyp4f16	UTSW	17	32537087	missense	probably damaging	0.97
R0482:Cyp4f16	UTSW	17	32550551	missense	probably damaging	1.00
R1422:Cyp4f16	UTSW	17	32542999	missense	probably damaging	0.99
R1435:Cyp4f16	UTSW	17	32550734	nonsense	probably null
R1440:Cyp4f16	UTSW	17	32550734	nonsense	probably null
R1616:Cyp4f16	UTSW	17	32542968	nonsense	probably null
R1840:Cyp4f16	UTSW	17	32543006	critical splice donor site	probably null
R1854:Cyp4f16	UTSW	17	32537099	missense	probably damaging	0.99
R1912:Cyp4f16	UTSW	17	32545044	missense	probably damaging	0.99
R2200:Cyp4f16	UTSW	17	32537104	missense	probably damaging	0.98
R3803:Cyp4f16	UTSW	17	32544884	missense	possibly damaging	0.96
R4811:Cyp4f16	UTSW	17	32545106	missense	probably benign
R4812:Cyp4f16	UTSW	17	32546678	missense	probably null	1.00
R4837:Cyp4f16	UTSW	17	32542764	missense	possibly damaging	0.59
R4909:Cyp4f16	UTSW	17	32550321	missense	possibly damaging	0.46
R5857:Cyp4f16	UTSW	17	32537024	missense	probably damaging	1.00
R5986:Cyp4f16	UTSW	17	32544142	missense	probably benign	0.45
R6013:Cyp4f16	UTSW	17	32546678	missense	probably null	1.00
R6408:Cyp4f16	UTSW	17	32551199	missense	probably damaging	1.00
R6651:Cyp4f16	UTSW	17	32544144	missense	probably benign	0.00
R7463:Cyp4f16	UTSW	17	32550787	missense	possibly damaging	0.89
RF005:Cyp4f16	UTSW	17	32545195	intron	probably null
X0017:Cyp4f16	UTSW	17	32544936	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CAATCCATCAGTCTGGCCAG -3'
(R):5'- CAGACTTTTGTGCATACTCTGAGC -3'

Sequencing Primer
(F):5'- TCTGGCCAGACCCTGAG -3'
(R):5'- TCTGAGCAGAGGGTGGTAAG -3'

Posted On

2016-03-17