Mutagenetix > Incidental Mutations

Incidental Mutation 'RF005:Cyp4f16'

628434

Institutional Source

Beutler Lab

Gene Symbol

Cyp4f16

Ensembl Gene

ENSMUSG00000048440

Gene Name

cytochrome P450, family 4, subfamily f, polypeptide 16

Synonyms

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

RF005 (G1)

Quality Score

224.009

Status

Validated

Chromosome

Chromosomal Location

32536558-32551798 bp(+) (GRCm38)

Type of Mutation

splice site (42 bp from exon)

DNA Base Change (assembly)

C to A at 32545195 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

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

SMART Domains

Protein: ENSMUSP00000003416
Gene: ENSMUSG00000048440

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

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

SMART Domains

Protein: ENSMUSP00000131058
Gene: ENSMUSG00000048440

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

Coding Region Coverage

1x: 99.8%
3x: 99.7%
10x: 99.4%
20x: 98.6%

Validation Efficiency

94% (65/69)

Allele List at MGI

Other mutations in this stock

Total: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5430401F13Rik	AGAAAGGAAAAGGTGGCCAG	AGAAAGGAAAAGGTGGCCAGCAAAAACAGAAAGGAAAAGGTGGCCAG	6: 131,552,884		probably benign	Het
A030005L19Rik	CTGCTG	CTGCTGTGGATGCTG	1: 82,913,585		probably benign	Het
Abca1	G	T	4: 53,049,125	T1651N	probably damaging	Het
Adamtsl3	A	G	7: 82,612,395	T40A		Het
Adgra3	A	T	5: 50,013,387		probably null	Het
Apcs	A	T	1: 172,894,242	M179K	probably damaging	Het
Baiap2	G	A	11: 119,996,529	E217K	possibly damaging	Het
Ccdc69	A	G	11: 55,060,523	L24P	probably damaging	Het
Cdh16	T	G	8: 104,617,052	N604T	probably damaging	Het
Cfb	C	T	17: 34,858,046	V538I	possibly damaging	Het
Col6a3	A	G	1: 90,811,262	S1022P	probably benign	Het
Cpeb1	A	G	7: 81,361,806	L129S	possibly damaging	Het
Crybg1	A	G	10: 44,004,745	V149A	probably benign	Het
Dlg5	G	A	14: 24,158,493	Q882*	probably null	Het
Fsip2	T	A	2: 82,992,532	I6203K	probably benign	Het
Gabre	CCGGCT	CCGGCTACGGCT	X: 72,270,045		probably null	Het
Gm17660	A	C	5: 104,074,859		probably null	Het
Gm9513	T	C	9: 36,475,674	S13P	possibly damaging	Het
Gprc5d	A	T	6: 135,116,519	L130Q	probably damaging	Het
H13	G	A	2: 152,669,669	E30K	probably damaging	Het
Hmcn1	T	A	1: 150,635,146	K3609*	probably null	Het
Hsdl2	GCTGCAG	GCTGCAGCAGCAGCCACATCTGCAG	4: 59,610,652		probably benign	Het
Kl	A	C	5: 150,953,420	Y235S	probably benign	Het
Map6d1	G	A	16: 20,241,000	T105I	probably benign	Het
Mast4	GGTGGTGGTGG	GGTGGTGGTGGTGGTGG	13: 102,736,307		probably benign	Het
Mbd1	TGTCTGCATCTGCGTCTTCGTCTGCATCTGCATCTGCGTCTTCGTCTGCATCTGCATCTGC	TATCTGCATCTGCGTCTTCGTCTGCATCTGCATCTGC	18: 74,273,573		probably benign	Het
Mms22l	A	G	4: 24,517,207	I363V	probably benign	Het
Myo7a	T	C	7: 98,093,617	I391V	probably benign	Het
Nab2	A	T	10: 127,664,364	D286E	probably benign	Het
Nrxn1	G	A	17: 90,362,876	R1144C	probably damaging	Het
Olfr1039	T	C	2: 86,131,070	M198V	probably benign	Het
Olfr592	T	C	7: 103,186,691	I30T	possibly damaging	Het
Olfr635	A	G	7: 103,979,561	D123G	probably damaging	Het
Pan2	G	A	10: 128,315,535	E842K	probably benign	Het
Prex2	A	C	1: 11,185,166	D1145A	possibly damaging	Het
Prop1	A	C	11: 50,951,130	Y150D	possibly damaging	Het
Prp2	AGGCCCACAGCAGCGACCCCCTCAAGGCCCACCACCACCAGGTGGCCCACAGCCGAGACCCCCTCAAGGCCCACCACC	AGGCCCACAGCCGAGACCCCCTCAAGGCCCACCACC	6: 132,600,501		probably benign	Het
Psip1	T	C	4: 83,460,498	I353M	probably damaging	Het
Rapgef1	C	A	2: 29,707,195		probably null	Het
Rgl1	G	A	1: 152,521,363	S684L	probably benign	Het
Sbf2	T	A	7: 110,317,008	D1552V	probably damaging	Het
Serpinh1	C	T	7: 99,346,203	V391M	probably damaging	Het
Slc35e4	A	T	11: 3,907,960	L215Q	possibly damaging	Het
Tbl3	TCTT	TCTTCTT	17: 24,702,541		probably benign	Het
Tex15	T	A	8: 33,576,677	M2045K	probably benign	Het
Tmprss15	T	C	16: 78,953,801	*1070W	probably null	Het
Trav15-2-dv6-2	GGGAG	GGGAGGAG	14: 53,649,750		probably benign	Het
Trav15-2-dv6-2	GGAG	GGAGGAG	14: 53,649,751		probably benign	Het
Trav15-2-dv6-2	GAA	GAACAA	14: 53,649,754		probably benign	Het
Trim33	GCCCCGGCCCCCG	GCCCCG	3: 103,280,212		probably null	Het
Triobp	GACAA	GACAACCCCAGGACTCCCTGTGCCCAACGGAACAA	15: 78,967,061		probably benign	Het
Tub	C	A	7: 109,022,639	Q95K	probably benign	Het
Uhrf1bp1	A	T	17: 27,885,531	D517V	probably damaging	Het
Usp9y	T	A	Y: 1,435,046	Q261L	probably benign	Het
Utp20	A	T	10: 88,825,457	D29E	probably damaging	Het
Vill	G	A	9: 119,060,439	V148M	probably damaging	Het
Vmn2r120	C	T	17: 57,521,991	E535K	possibly damaging	Het
Zfp451	A	T	1: 33,776,792	Y692*	probably null	Het
Zfp599	A	C	9: 22,253,884	V65G	probably benign	Het
Zfp808	T	C	13: 62,171,299	V114A	probably benign	Het
Znrd1as	CACCACCACCACCACCACCAC	CACCACCACCACCACCACCACAACCACCACCACCACCACCAC	17: 36,965,048		probably benign	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
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
X0017:Cyp4f16	UTSW	17	32544936	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGACCTGGTGCACAACTTC -3'
(R):5'- CACAGAGTCTGAGACCTGTTG -3'

Sequencing Primer
(F):5'- GGTGCACAACTTCACAGATGCTG -3'
(R):5'- CTGAGACCTGTTGTGCATACAAG -3'

Posted On

2020-04-07