Mutagenetix > Incidental Mutation

Incidental Mutation 'R3803:Cyp4f16'

274454

Institutional Source

Beutler Lab

Gene Symbol

Cyp4f16

Ensembl Gene

ENSMUSG00000048440

Gene Name

cytochrome P450, family 4, subfamily f, polypeptide 16

Synonyms

2310021J05Rik

MMRRC Submission

040878-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R3803 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

32755532-32770772 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 32763858 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 217 (S217P)

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: S217P

PolyPhen 2 Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000003416
Gene: ENSMUSG00000048440
AA Change: S217P

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: S217P

PolyPhen 2 Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000131058
Gene: ENSMUSG00000048440
AA Change: S217P

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000170956

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.6%
20x: 95.9%

Validation Efficiency

100% (70/70)

Allele List at MGI

Other mutations in this stock

Total: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2ml1	T	C	6: 128,522,033 (GRCm39)	N1263S	probably benign	Het
Alpk1	A	C	3: 127,473,486 (GRCm39)	V839G	possibly damaging	Het
Als2	A	C	1: 59,206,358 (GRCm39)	M1634R	probably damaging	Het
Aox1	T	A	1: 58,329,058 (GRCm39)		probably null	Het
Aqp12	C	T	1: 92,934,088 (GRCm39)		probably benign	Het
Arhgap24	T	C	5: 103,040,308 (GRCm39)	V508A	probably damaging	Het
Arhgap9	T	A	10: 127,165,386 (GRCm39)	D598E	possibly damaging	Het
Btaf1	A	T	19: 36,966,373 (GRCm39)	H1047L	probably benign	Het
Btaf1	A	T	19: 36,963,948 (GRCm39)	T840S	probably benign	Het
Capn13	G	A	17: 73,646,396 (GRCm39)	P339L	probably benign	Het
Clstn1	A	G	4: 149,719,796 (GRCm39)	H437R	probably damaging	Het
Col1a1	A	G	11: 94,828,895 (GRCm39)	E79G	unknown	Het
Cspp1	C	A	1: 10,196,598 (GRCm39)	D157E	probably damaging	Het
Ddx50	C	A	10: 62,475,723 (GRCm39)	V333F	probably damaging	Het
Dnai2	A	G	11: 114,629,551 (GRCm39)	S193G	probably benign	Het
Dync2h1	A	T	9: 6,935,293 (GRCm39)	H4236Q	probably benign	Het
Emc1	T	C	4: 139,094,474 (GRCm39)	Y676H	possibly damaging	Het
Erich6	T	A	3: 58,528,753 (GRCm39)	Y499F	probably damaging	Het
Fa2h	A	G	8: 112,082,030 (GRCm39)		probably null	Het
Fads2b	A	T	2: 85,338,682 (GRCm39)		probably null	Het
Gli1	T	A	10: 127,173,934 (GRCm39)		probably benign	Het
Gm14403	A	G	2: 177,200,569 (GRCm39)	S172G	probably benign	Het
Grhl1	C	T	12: 24,634,918 (GRCm39)	T330M	probably damaging	Het
Grm8	T	G	6: 28,125,635 (GRCm39)	N164H	possibly damaging	Het
Gstm3	G	A	3: 107,871,551 (GRCm39)	T210I	probably benign	Het
Helz2	A	G	2: 180,881,789 (GRCm39)	F335L	probably damaging	Het
Hr	G	A	14: 70,795,333 (GRCm39)	A322T	probably benign	Het
Hsd17b8	A	T	17: 34,245,441 (GRCm39)	V231E	probably damaging	Het
Iapp	A	G	6: 142,249,151 (GRCm39)	N68S	probably benign	Het
Kctd4	A	T	14: 76,200,726 (GRCm39)	L232F	probably benign	Het
Kdm5b	A	G	1: 134,543,679 (GRCm39)	I783V	probably benign	Het
Larp4b	T	A	13: 9,208,590 (GRCm39)	N414K	probably benign	Het
Ldb2	T	C	5: 44,630,736 (GRCm39)	E337G	probably benign	Het
Lgr4	A	G	2: 109,838,542 (GRCm39)	K498E	probably benign	Het
Lipo3	C	T	19: 33,762,257 (GRCm39)	C80Y	probably damaging	Het
Luc7l3	A	T	11: 94,183,992 (GRCm39)		probably benign	Het
Ndrg2	C	A	14: 52,148,132 (GRCm39)		probably null	Het
Ndufaf3	C	A	9: 108,444,092 (GRCm39)	R12L	probably benign	Het
Nol4	A	T	18: 22,828,012 (GRCm39)	L634I	probably damaging	Het
Npr3	C	T	15: 11,895,876 (GRCm39)	A257T	probably damaging	Het
Nrg3	G	A	14: 38,098,391 (GRCm39)	P496S	probably damaging	Het
Or4g17	A	T	2: 111,209,638 (GRCm39)	M98L	possibly damaging	Het
Or51a7	T	C	7: 102,615,228 (GRCm39)		probably null	Het
Pak3	G	A	X: 142,492,727 (GRCm39)	V87I	probably damaging	Het
Pclo	C	T	5: 14,565,416 (GRCm39)	Q61*	probably null	Het
Phf19	A	G	2: 34,789,670 (GRCm39)	L350P	probably damaging	Het
Phf8	T	C	X: 150,355,572 (GRCm39)	S512P	possibly damaging	Het
Pkhd1l1	T	C	15: 44,356,531 (GRCm39)	L332P	probably benign	Het
Prpf4b	T	C	13: 35,067,665 (GRCm39)		probably benign	Het
Rgl3	A	G	9: 21,887,321 (GRCm39)	I500T	probably damaging	Het
Rgs7	T	A	1: 175,016,785 (GRCm39)	I62F	probably benign	Het
Rttn	A	G	18: 88,995,831 (GRCm39)	N205D	probably damaging	Het
Samd8	G	A	14: 21,825,133 (GRCm39)	V30M	probably damaging	Het
Scn7a	G	A	2: 66,510,590 (GRCm39)	Q1271*	probably null	Het
Skor1	A	G	9: 63,052,868 (GRCm39)	V339A	probably benign	Het
Slc16a10	G	C	10: 39,932,620 (GRCm39)	H314D	possibly damaging	Het
Slc5a6	T	C	5: 31,200,295 (GRCm39)	E130G	probably damaging	Het
Sorcs2	T	A	5: 36,555,150 (GRCm39)	K80N	probably benign	Het
Stc1	T	C	14: 69,275,924 (GRCm39)	I239T	probably benign	Het
Steap4	G	T	5: 8,026,979 (GRCm39)	R314L	probably damaging	Het
Suclg2	A	T	6: 95,474,649 (GRCm39)	I372N	probably damaging	Het
Trav7d-4	A	T	14: 53,007,575 (GRCm39)	K23*	probably null	Het
Ttn	A	G	2: 76,641,075 (GRCm39)	L13598P	probably damaging	Het
Vmn2r52	A	G	7: 9,907,439 (GRCm39)	S96P	probably damaging	Het
Wdr25	T	C	12: 108,864,479 (GRCm39)	V208A	probably damaging	Het
Wdr27	C	T	17: 15,138,371 (GRCm39)	V360M	probably benign	Het
Zfp54	T	C	17: 21,653,814 (GRCm39)	C103R	possibly damaging	Het
Zfp618	A	G	4: 63,051,256 (GRCm39)	E679G	probably damaging	Het
Zfp846	A	G	9: 20,505,735 (GRCm39)	I532V	probably benign	Het
Zkscan2	A	T	7: 123,094,365 (GRCm39)		probably benign	Het

Other mutations in Cyp4f16

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02941:Cyp4f16	APN	17	32,756,061 (GRCm39)	missense	possibly damaging	0.75
IGL03400:Cyp4f16	APN	17	32,769,327 (GRCm39)	missense	probably benign	0.00
R0437:Cyp4f16	UTSW	17	32,756,072 (GRCm39)	missense	possibly damaging	0.46
R0454:Cyp4f16	UTSW	17	32,756,061 (GRCm39)	missense	probably damaging	0.97
R0482:Cyp4f16	UTSW	17	32,769,525 (GRCm39)	missense	probably damaging	1.00
R1422:Cyp4f16	UTSW	17	32,761,973 (GRCm39)	missense	probably damaging	0.99
R1435:Cyp4f16	UTSW	17	32,769,708 (GRCm39)	nonsense	probably null
R1440:Cyp4f16	UTSW	17	32,769,708 (GRCm39)	nonsense	probably null
R1616:Cyp4f16	UTSW	17	32,761,942 (GRCm39)	nonsense	probably null
R1840:Cyp4f16	UTSW	17	32,761,980 (GRCm39)	critical splice donor site	probably null
R1854:Cyp4f16	UTSW	17	32,756,073 (GRCm39)	missense	probably damaging	0.99
R1912:Cyp4f16	UTSW	17	32,764,018 (GRCm39)	missense	probably damaging	0.99
R2200:Cyp4f16	UTSW	17	32,756,078 (GRCm39)	missense	probably damaging	0.98
R4811:Cyp4f16	UTSW	17	32,764,080 (GRCm39)	missense	probably benign
R4812:Cyp4f16	UTSW	17	32,765,652 (GRCm39)	missense	probably null	1.00
R4837:Cyp4f16	UTSW	17	32,761,738 (GRCm39)	missense	possibly damaging	0.59
R4867:Cyp4f16	UTSW	17	32,769,724 (GRCm39)	missense	possibly damaging	0.94
R4909:Cyp4f16	UTSW	17	32,769,295 (GRCm39)	missense	possibly damaging	0.46
R5857:Cyp4f16	UTSW	17	32,755,998 (GRCm39)	missense	probably damaging	1.00
R5986:Cyp4f16	UTSW	17	32,763,116 (GRCm39)	missense	probably benign	0.45
R6013:Cyp4f16	UTSW	17	32,765,652 (GRCm39)	missense	probably null	1.00
R6408:Cyp4f16	UTSW	17	32,770,173 (GRCm39)	missense	probably damaging	1.00
R6651:Cyp4f16	UTSW	17	32,763,118 (GRCm39)	missense	probably benign	0.00
R7463:Cyp4f16	UTSW	17	32,769,761 (GRCm39)	missense	possibly damaging	0.89
R7923:Cyp4f16	UTSW	17	32,765,721 (GRCm39)	missense	possibly damaging	0.67
R9622:Cyp4f16	UTSW	17	32,769,246 (GRCm39)	missense	probably damaging	1.00
RF005:Cyp4f16	UTSW	17	32,764,169 (GRCm39)	splice site	probably null
X0017:Cyp4f16	UTSW	17	32,763,910 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GTCACAGGAAATTGCGGGAC -3'
(R):5'- GTCTCTCCCTAATGACAGCATC -3'

Sequencing Primer
(F):5'- CGGAAACAGGTGCTGAGTG -3'
(R):5'- ACAGCATCTGTGAAGTTGTGCAC -3'

Posted On

2015-04-02