Mutagenetix > Incidental Mutation

Incidental Mutation 'R1422:Cyp4f16'

161147

Institutional Source

Beutler Lab

Gene Symbol

Cyp4f16

Ensembl Gene

ENSMUSG00000048440

Gene Name

cytochrome P450, family 4, subfamily f, polypeptide 16

Synonyms

MMRRC Submission

039478-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1422 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

32536558-32551798 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 32542999 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Leucine at position 174 (M174L)

Ref Sequence

ENSEMBL: ENSMUSP00000131058 (fasta)

Gene Model

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

AlphaFold

Q99N17

Predicted Effect

probably damaging
Transcript: ENSMUST00000003416
AA Change: M174L

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000003416
Gene: ENSMUSG00000048440
AA Change: M174L

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000163736

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000164628

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 damaging
Transcript: ENSMUST00000169591
AA Change: M174L

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000131058
Gene: ENSMUSG00000048440
AA Change: M174L

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000170956

Meta Mutation Damage Score

0.5720

Coding Region Coverage

1x: 98.9%
3x: 97.9%
10x: 95.2%
20x: 89.6%

Validation Efficiency

100% (51/51)

Allele List at MGI

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700062C07Rik	A	G	18: 24,477,276	T170A	probably benign	Het
3110002H16Rik	G	A	18: 12,181,623	D87N	probably damaging	Het
4931408C20Rik	C	G	1: 26,682,466	S1211T	possibly damaging	Het
Arhgap5	T	A	12: 52,519,514	D1089E	probably damaging	Het
Atrn	T	C	2: 130,957,914	Y404H	probably damaging	Het
Becn1	T	C	11: 101,295,126	D98G	possibly damaging	Het
Coro2b	A	G	9: 62,428,947		probably null	Het
Cpne4	T	C	9: 104,900,285	I143T	probably damaging	Het
Cr2	A	G	1: 195,171,125	I35T	probably benign	Het
Ctns	T	C	11: 73,185,246	Y321C	probably damaging	Het
Dpy19l4	T	C	4: 11,317,168	E10G	possibly damaging	Het
Dtx3	T	A	10: 127,191,289	I339F	possibly damaging	Het
Fam184a	A	T	10: 53,675,208	M625K	probably benign	Het
Fgd6	A	G	10: 94,045,372	E696G	probably damaging	Het
Gm14685	G	T	X: 73,127,655	G218C	probably damaging	Het
Gm17535	A	G	9: 3,035,804	Y224C	probably null	Het
Gria1	T	A	11: 57,189,788	L199Q	probably benign	Het
Hk1	T	C	10: 62,296,094	D184G	probably null	Het
Ift88	T	C	14: 57,438,301		probably benign	Het
Ift88	G	A	14: 57,472,979	V403M	probably damaging	Het
Igsf1	C	A	X: 49,782,936	G737*	probably null	Het
Kif19a	A	G	11: 114,785,809	D488G	probably benign	Het
Lpcat2	T	C	8: 92,879,417	L232P	probably damaging	Het
Ly9	A	G	1: 171,601,212	V280A	probably damaging	Het
Macrod2	T	A	2: 140,419,941		probably null	Het
Mmp1a	A	G	9: 7,464,298		probably null	Het
Mmrn2	A	G	14: 34,396,239	H80R	probably damaging	Het
Olfr1156	G	A	2: 87,950,095	T46I	probably benign	Het
Olfr124	T	C	17: 37,805,363	Y73H	probably damaging	Het
Olfr564	G	A	7: 102,803,850	R124H	probably benign	Het
Pkd1l3	C	A	8: 109,621,708	P194H	unknown	Het
Plk2	A	G	13: 110,399,489	M576V	probably damaging	Het
Pms2	T	A	5: 143,913,705	S113T	probably damaging	Het
Ptprk	A	G	10: 28,475,280	I590V	possibly damaging	Het
Ptpro	T	A	6: 137,443,594	V1007D	probably damaging	Het
Rad17	A	G	13: 100,645,082	L69P	probably benign	Het
Robo2	G	A	16: 73,978,448	T466M	probably damaging	Het
Sema6a	A	G	18: 47,306,431	C9R	probably benign	Het
Slc6a19	A	G	13: 73,685,869	S357P	probably benign	Het
Spock3	T	C	8: 63,143,989	I109T	possibly damaging	Het
Svs6	T	C	2: 164,317,660		probably null	Het
Tenm4	A	T	7: 96,550,051	D17V	probably damaging	Het
Trp53bp2	T	A	1: 182,446,464	M558K	probably benign	Het
Ttn	T	C	2: 76,741,670	E26293G	probably damaging	Het
Vmn1r29	A	G	6: 58,307,886	Y197C	probably damaging	Het
Wdfy3	A	T	5: 101,884,214		probably benign	Het
Zfp366	A	G	13: 99,229,296	K322E	probably 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
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
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
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'- AGAGGAATTTTCCACCTTTGTCCACTG -3'
(R):5'- ACTTGACAACCAGAGTGAACTCAGC -3'

Sequencing Primer
(F):5'- GACATTACTGCCCTCCCAGG -3'
(R):5'- tccccaggcaggtagtaag -3'

Posted On

2014-03-14