Mutagenetix > Incidental Mutations

Incidental Mutation 'R4837:Cyp4f16'

374372

Institutional Source

Beutler Lab

Gene Symbol

Cyp4f16

Ensembl Gene

ENSMUSG00000048440

Gene Name

cytochrome P450, family 4, subfamily f, polypeptide 16

Synonyms

MMRRC Submission

042452-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4837 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

32536558-32551798 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 32542764 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Isoleucine at position 124 (F124I)

Ref Sequence

ENSEMBL: ENSMUSP00000131058 (fasta)

Gene Model

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

AlphaFold

Q99N17

Predicted Effect

possibly damaging
Transcript: ENSMUST00000003416
AA Change: F124I

PolyPhen 2 Score 0.590 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000003416
Gene: ENSMUSG00000048440
AA Change: F124I

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

possibly damaging
Transcript: ENSMUST00000169591
AA Change: F124I

PolyPhen 2 Score 0.590 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000131058
Gene: ENSMUSG00000048440
AA Change: F124I

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000170956

Meta Mutation Damage Score

0.1302

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 93.9%

Validation Efficiency

99% (75/76)

Allele List at MGI

Other mutations in this stock

Total: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca14	A	T	7: 120,246,980	H618L	probably benign	Het
Adgrl3	A	G	5: 81,766,234	T1230A	probably benign	Het
Ahnak2	A	G	12: 112,785,739	S203P	probably benign	Het
Allc	A	G	12: 28,559,309	V244A	probably benign	Het
Ap3m1	G	A	14: 21,037,157	P157L	probably damaging	Het
Arhgef2	T	G	3: 88,632,943	I97S	probably damaging	Het
Btaf1	C	A	19: 36,966,785	T398K	probably benign	Het
Cabp1	T	C	5: 115,173,153	M158V	probably damaging	Het
Ccdc162	G	A	10: 41,673,867	P340L	probably benign	Het
Clip4	A	G	17: 71,834,222	K524E	probably damaging	Het
Cltc	A	G	11: 86,695,648	V189A	probably benign	Het
Cmc2	A	G	8: 116,894,140	F34S	probably damaging	Het
Ctcfl	G	T	2: 173,113,656	T271N	probably benign	Het
Ddx41	C	A	13: 55,531,648	R479L	possibly damaging	Het
Dgcr6	C	A	16: 18,066,846	N87K	possibly damaging	Het
Dll1	A	G	17: 15,368,859	L518P	probably damaging	Het
Dnaja4	G	T	9: 54,710,644	M263I	probably benign	Het
Dusp13	T	A	14: 21,743,525		probably benign	Het
Fam185a	T	A	5: 21,480,377	I357N	probably benign	Het
Fam186a	T	C	15: 99,940,797	Y2522C	unknown	Het
Fam222a	T	A	5: 114,594,397	C4*	probably null	Het
Filip1	T	C	9: 79,819,459	D626G	probably damaging	Het
Ghrhr	C	T	6: 55,388,187	R389C	probably damaging	Het
Gm8251	G	A	1: 44,061,434	T168I	possibly damaging	Het
Gstm3	T	A	3: 107,964,215	T217S	probably benign	Het
Gucy2g	T	C	19: 55,226,053	T548A	probably benign	Het
Hectd3	T	A	4: 117,002,597	C744S	probably null	Het
Hnrnpl	T	C	7: 28,817,337	S184P	probably benign	Het
Il3	G	A	11: 54,267,257		probably benign	Het
Itga5	C	T	15: 103,354,084	G330S	probably damaging	Het
Kl	A	G	5: 150,980,847	T355A	possibly damaging	Het
Lipk	A	C	19: 34,032,320	S208R	probably damaging	Het
Mrs2	T	A	13: 24,999,057		probably null	Het
Mutyh	A	G	4: 116,817,690	E372G	probably damaging	Het
Myh4	C	A	11: 67,258,992	A1821D	probably benign	Het
Nfkb2	G	T	19: 46,307,567	E170D	probably benign	Het
Nlrp12	T	C	7: 3,231,061	E881G	probably damaging	Het
Nol9	T	C	4: 152,052,095		probably benign	Het
Nwd1	A	G	8: 72,657,131	E52G	probably damaging	Het
Olfr1025-ps1	A	G	2: 85,918,404	T160A	probably benign	Het
Olfr1294	T	A	2: 111,537,974	H105L	probably damaging	Het
Olfr1415	A	G	1: 92,490,975	V260A	probably benign	Het
Olfr1508	A	T	14: 52,463,646	M121K	probably damaging	Het
Olfr449	T	G	6: 42,837,849		probably null	Het
Opn4	A	G	14: 34,596,304	V242A	probably damaging	Het
Paxbp1	G	A	16: 91,034,978	Q341*	probably null	Het
Pcdh7	T	C	5: 57,720,411	V436A	possibly damaging	Het
Pcdhb18	G	A	18: 37,489,814	V66M	probably damaging	Het
Pikfyve	A	G	1: 65,246,590	E951G	possibly damaging	Het
Plcg1	A	G	2: 160,750,986	N179S	probably benign	Het
Prr11	A	C	11: 87,098,691	S285A	probably benign	Het
Ranbp17	A	G	11: 33,328,451	S139P	probably damaging	Het
Rasa4	G	A	5: 136,091,810		probably null	Het
Rnf213	G	C	11: 119,442,763	G2934R	probably benign	Het
Rpap1	A	G	2: 119,778,251	V210A	probably benign	Het
Rpn1	T	A	6: 88,090,205	N182K	probably benign	Het
Rps24	C	T	14: 24,491,787	T14I	possibly damaging	Het
Rrp12	C	T	19: 41,877,505		probably null	Het
Rttn	T	A	18: 89,090,415		probably null	Het
Rufy1	A	G	11: 50,401,493	S490P	probably damaging	Het
Sec62	T	A	3: 30,809,869	M100K	unknown	Het
Spata16	A	G	3: 26,732,932	H253R	possibly damaging	Het
Srcap	T	C	7: 127,558,962		probably benign	Het
Srrm1	A	G	4: 135,345,512		probably benign	Het
Tbcd	G	A	11: 121,582,785		probably null	Het
Tedc2	C	A	17: 24,220,593	A25S	probably damaging	Het
Tnr	A	T	1: 159,684,788		probably benign	Het
Tnxb	A	C	17: 34,718,007	D3730A	probably damaging	Het
Tor2a	G	A	2: 32,760,597	G201D	probably damaging	Het
Tpp1	T	C	7: 105,746,649	T558A	probably benign	Het
Vmn1r211	G	T	13: 22,852,126	Q124K	probably benign	Het
Wasf3	T	C	5: 146,460,978	V185A	probably benign	Het
Zbtb12	A	G	17: 34,896,009	T257A	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
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
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'- TGTGGAAAACATGGCGGACC -3'
(R):5'- GGGCTTCAGGATATCAAAGTGG -3'

Sequencing Primer
(F):5'- GACCATGTAGCAGTCTTGTCTAAG -3'
(R):5'- CTTCAGGATATCAAAGTGGAAGGC -3'

Posted On

2016-03-01