Mutagenetix > Incidental Mutation

Incidental Mutation 'R6013:Cyp4f16'

479878

Institutional Source

Beutler Lab

Gene Symbol

Cyp4f16

Ensembl Gene

ENSMUSG00000048440

Gene Name

cytochrome P450, family 4, subfamily f, polypeptide 16

Synonyms

MMRRC Submission

044189-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6013 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

32536558-32551798 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 32546678 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Valine at position 345 (A345V)

Ref Sequence

ENSEMBL: ENSMUSP00000131058 (fasta)

Gene Model

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

AlphaFold

Q99N17

Predicted Effect

probably null
Transcript: ENSMUST00000003416
AA Change: A345V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000003416
Gene: ENSMUSG00000048440
AA Change: A345V

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000163736

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

probably null
Transcript: ENSMUST00000169591
AA Change: A345V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000131058
Gene: ENSMUSG00000048440
AA Change: A345V

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000170956

Meta Mutation Damage Score

0.9269

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.1%
20x: 94.5%

Validation Efficiency

98% (54/55)

Allele List at MGI

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700008P02Rik	C	T	3: 6,617,250		probably null	Het
Aanat	A	T	11: 116,596,124		probably null	Het
Abca17	A	T	17: 24,287,846	V1178E	possibly damaging	Het
Abcf3	T	A	16: 20,550,561		probably null	Het
Alk	A	G	17: 71,900,737	M1001T	probably benign	Het
Arhgap23	C	A	11: 97,500,992	S1445Y	probably damaging	Het
Atp10a	T	C	7: 58,797,790	I760T	probably benign	Het
BC030867	T	C	11: 102,255,033	V45A	probably benign	Het
Cadm1	C	T	9: 47,857,274		probably benign	Het
Car10	A	T	11: 93,185,279		probably benign	Het
Casq2	G	T	3: 102,145,629		probably null	Het
Clec4f	T	C	6: 83,655,088	I55V	probably benign	Het
Cngb1	T	C	8: 95,284,321		probably benign	Het
Csn1s2b	A	G	5: 87,824,239		probably null	Het
Cyp2c39	A	C	19: 39,513,525	R119S	probably benign	Het
Ddx43	T	C	9: 78,414,285	L412S	probably damaging	Het
Dnajb12	G	A	10: 59,894,341		probably null	Het
Ephx2	A	G	14: 66,110,242	S56P	probably benign	Het
Fam83h	A	G	15: 76,004,000	F496S	probably damaging	Het
Gcnt4	T	C	13: 96,947,278	S361P	possibly damaging	Het
H2-T23	G	T	17: 36,030,582	H332Q	probably benign	Het
Ift57	G	T	16: 49,699,304		probably null	Het
Il1rl2	A	G	1: 40,351,857	H320R	possibly damaging	Het
Kansl1	A	G	11: 104,350,639	V618A	probably benign	Het
Kctd3	T	C	1: 188,996,468	E157G	probably benign	Het
Magohb	T	A	6: 131,293,074	D31V	possibly damaging	Het
Mdn1	C	A	4: 32,715,713	F1993L	probably damaging	Het
Med29	C	A	7: 28,386,993	C130F	probably benign	Het
Mtmr7	G	A	8: 40,581,528	R251C	probably damaging	Het
Ncor1	T	C	11: 62,321,077	I49V	probably benign	Het
Nfkb1	G	T	3: 135,626,684	T109K	possibly damaging	Het
Pkd1l1	A	G	11: 8,869,452		probably null	Het
Pkp1	T	A	1: 135,883,910	T408S	probably damaging	Het
Plec	A	T	15: 76,189,310	D501E	possibly damaging	Het
Ppil2	T	C	16: 17,100,265	N96D	probably damaging	Het
Prcp	A	C	7: 92,927,768	Y335S	possibly damaging	Het
Reg2	T	A	6: 78,407,969	Y165N	possibly damaging	Het
Rnf7	T	C	9: 96,471,734	*114W	probably null	Het
Scg3	T	C	9: 75,676,808	D137G	probably damaging	Het
Serpinb7	T	C	1: 107,450,189	V204A	probably benign	Het
Sez6	C	T	11: 77,973,797	H528Y	probably damaging	Het
Sf3b1	A	T	1: 55,000,298	S723T	probably damaging	Het
Shtn1	T	C	19: 58,975,101	D594G	probably damaging	Het
Sptbn4	A	G	7: 27,364,479	L2174P	probably damaging	Het
Stk25	A	G	1: 93,625,459		probably null	Het
Tep1	A	T	14: 50,861,048	F429I	probably damaging	Het
Thada	T	A	17: 84,272,800	I1409F	probably benign	Het
Tmem2	G	A	19: 21,832,039	V928I	possibly damaging	Het
Usp25	G	A	16: 77,077,021	G495E	probably benign	Het
Washc2	A	G	6: 116,254,153	S844G	probably damaging	Het
Xirp2	A	T	2: 67,510,943	H1176L	possibly damaging	Het
Zfand6	C	A	7: 84,632,692	V110L	probably benign	Het
Zfp30	A	G	7: 29,789,421	R8G	possibly damaging	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
R4867:Cyp4f16	UTSW	17	32550750	missense	possibly damaging	0.94
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
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
R7923:Cyp4f16	UTSW	17	32546747	missense	possibly damaging	0.67
R9622:Cyp4f16	UTSW	17	32550272	missense	probably damaging	1.00
RF005:Cyp4f16	UTSW	17	32545195	splice site	probably null
X0017:Cyp4f16	UTSW	17	32544936	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GTAGAGGTGTGCCAGTCTCAAG -3'
(R):5'- GGTTAAGACTCTGTAATCCAGCCTG -3'

Sequencing Primer
(F):5'- GTATTTTGGAGAGACCTAGACTCCC -3'
(R):5'- GAGCTACACAGACACACCCTGTAAG -3'

Posted On

2017-06-26