Mutagenetix > Incidental Mutation

Incidental Mutation 'R6010:Cyp4f39'

479735

Institutional Source

Beutler Lab

Gene Symbol

Cyp4f39

Ensembl Gene

ENSMUSG00000061126

Gene Name

cytochrome P450, family 4, subfamily f, polypeptide 39

Synonyms

4732474A20Rik

MMRRC Submission

044187-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.340) question?

Stock #

R6010 (G1)

Quality Score

159.009

Status

Validated

Chromosome

Chromosomal Location

32671697-32712294 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 32701160 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 217 (F217L)

Ref Sequence

ENSEMBL: ENSMUSP00000003413 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000003413]

AlphaFold

Q8BGU0

Predicted Effect

probably damaging
Transcript: ENSMUST00000003413
AA Change: F217L

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000003413
Gene: ENSMUSG00000061126
AA Change: F217L

Domain	Start	End	E-Value	Type
transmembrane domain	18	40	N/A	INTRINSIC
Pfam:p450	60	525	5.8e-124	PFAM

Meta Mutation Damage Score

0.6432

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.7%
20x: 92.9%

Validation Efficiency

100% (65/65)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This gene is part of a cluster of cytochrome P450 genes on chromosome 19 and encodes an enzyme thought to play a role in the 12(R)-lipoxygenase pathway. Mutations in this gene are the cause of ichthyosis lamellar type 3. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actl7a	A	G	4: 56,743,870 (GRCm39)	I132M	possibly damaging	Het
Agap2	A	T	10: 126,926,779 (GRCm39)	I939F	probably damaging	Het
Ahctf1	A	G	1: 179,623,378 (GRCm39)	V80A	possibly damaging	Het
Atxn3	T	C	12: 101,914,285 (GRCm39)	D67G	probably damaging	Het
Avl9	G	A	6: 56,730,375 (GRCm39)	V573M	possibly damaging	Het
Baz1b	G	A	5: 135,246,305 (GRCm39)	E585K	possibly damaging	Het
Brms1l	T	C	12: 55,914,985 (GRCm39)	F298S	possibly damaging	Het
Camk2d	G	A	3: 126,591,363 (GRCm39)	V278I	possibly damaging	Het
Car10	A	G	11: 93,490,149 (GRCm39)	I297V	possibly damaging	Het
Cfap65	C	T	1: 74,962,190 (GRCm39)	C677Y	probably damaging	Het
Cfap74	T	A	4: 155,538,495 (GRCm39)	D872E	possibly damaging	Het
Cgrrf1	A	C	14: 47,091,158 (GRCm39)	Q227H	probably damaging	Het
Chil4	A	G	3: 106,121,711 (GRCm39)	I46T	probably damaging	Het
Chpf2	A	T	5: 24,796,917 (GRCm39)	H621L	probably damaging	Het
Cluap1	C	T	16: 3,755,437 (GRCm39)	R351W	possibly damaging	Het
Cnot6	A	T	11: 49,574,066 (GRCm39)	Y201*	probably null	Het
Col15a1	T	C	4: 47,245,630 (GRCm39)	V127A	probably benign	Het
Col6a3	C	T	1: 90,701,219 (GRCm39)	V2566I	unknown	Het
Cope	T	A	8: 70,761,162 (GRCm39)	M88K	probably damaging	Het
Cops4	A	G	5: 100,691,776 (GRCm39)	I358M	possibly damaging	Het
Coro7	T	C	16: 4,487,820 (GRCm39)	E130G	possibly damaging	Het
Csrp3	A	G	7: 48,485,213 (GRCm39)		probably null	Het
Dmac1	A	G	4: 75,196,473 (GRCm39)	S6P	unknown	Het
Drd4	A	T	7: 140,874,709 (GRCm39)	I367F	probably damaging	Het
Efcc1	T	A	6: 87,730,711 (GRCm39)		probably null	Het
Emid1	A	T	11: 5,085,389 (GRCm39)	M119K	possibly damaging	Het
Fbn2	C	T	18: 58,202,596 (GRCm39)	D1237N	probably benign	Het
Fbxl18	C	A	5: 142,858,153 (GRCm39)	R761L	probably damaging	Het
Gbp10	A	C	5: 105,372,205 (GRCm39)	L185R	probably damaging	Het
Gm7247	C	T	14: 51,601,805 (GRCm39)	S26F	probably benign	Het
Gucd1	G	T	10: 75,256,600 (GRCm39)		probably benign	Het
Helb	G	A	10: 119,941,788 (GRCm39)	T300M	probably damaging	Het
Ifna11	A	T	4: 88,738,278 (GRCm39)	H28L	probably benign	Het
Kalrn	T	A	16: 33,830,950 (GRCm39)	N723I	probably benign	Het
Kcnb2	C	T	1: 15,780,790 (GRCm39)	S554F	possibly damaging	Het
Med1	A	C	11: 98,049,188 (GRCm39)	V536G	probably damaging	Het
Nanog	A	C	6: 122,690,255 (GRCm39)	N195T	probably benign	Het
Neu1	C	T	17: 35,151,031 (GRCm39)	S94F	probably damaging	Het
Nop58	T	A	1: 59,740,071 (GRCm39)	S154R	probably damaging	Het
Npl	A	T	1: 153,388,314 (GRCm39)	L239*	probably null	Het
Nrg1	G	A	8: 32,308,600 (GRCm39)	T483M	probably damaging	Het
Nup98	G	T	7: 101,829,636 (GRCm39)	F391L	probably damaging	Het
Or4c122	A	T	2: 89,079,087 (GRCm39)	I305K	probably benign	Het
Or5ar1	T	C	2: 85,671,905 (GRCm39)	I77V	probably benign	Het
Or5d47	A	T	2: 87,804,886 (GRCm39)	V41E	probably damaging	Het
Or5g26	T	C	2: 85,494,374 (GRCm39)	I135V	probably benign	Het
Pacsin2	A	G	15: 83,266,020 (GRCm39)	V59A	possibly damaging	Het
Pcsk9	C	T	4: 106,311,469 (GRCm39)	R254H	possibly damaging	Het
Pierce2	A	T	9: 72,887,488 (GRCm39)		probably null	Het
Psme2	C	A	14: 55,824,980 (GRCm39)		probably null	Het
Ptprc	T	A	1: 138,028,794 (GRCm39)	H468L	probably benign	Het
Rbp3	T	A	14: 33,676,604 (GRCm39)	I184N	probably damaging	Het
Serpinb1c	A	G	13: 33,066,042 (GRCm39)	L301P	probably damaging	Het
Smim6	G	T	11: 115,804,219 (GRCm39)	G2V	probably damaging	Het
Snrpb2	A	G	2: 142,912,815 (GRCm39)	D146G	possibly damaging	Het
Svep1	T	A	4: 58,115,832 (GRCm39)	S954C	possibly damaging	Het
Telo2	G	T	17: 25,323,852 (GRCm39)	T568N	possibly damaging	Het
Tpp2	T	C	1: 43,990,373 (GRCm39)		probably null	Het
Upf1	A	G	8: 70,789,675 (GRCm39)	V720A	probably damaging	Het
Vmn1r81	T	C	7: 11,994,349 (GRCm39)	I86M	possibly damaging	Het
Vps8	T	A	16: 21,363,955 (GRCm39)		probably benign	Het
Wdr70	T	C	15: 7,916,900 (GRCm39)		probably null	Het
Zfp385c	A	T	11: 100,548,363 (GRCm39)	S30T	probably benign	Het
Zfp607a	T	A	7: 27,577,254 (GRCm39)	L108*	probably null	Het

Other mutations in Cyp4f39

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00789:Cyp4f39	APN	17	32,689,886 (GRCm39)	missense	probably damaging	1.00
IGL00822:Cyp4f39	APN	17	32,689,806 (GRCm39)	missense	probably benign	0.03
IGL00857:Cyp4f39	APN	17	32,708,631 (GRCm39)	missense	probably benign	0.08
IGL01380:Cyp4f39	APN	17	32,700,832 (GRCm39)	missense	probably damaging	1.00
IGL01532:Cyp4f39	APN	17	32,689,928 (GRCm39)	splice site	probably benign
IGL01756:Cyp4f39	APN	17	32,702,415 (GRCm39)	nonsense	probably null
IGL02090:Cyp4f39	APN	17	32,689,932 (GRCm39)	splice site	probably benign
IGL02477:Cyp4f39	APN	17	32,708,619 (GRCm39)	missense	probably benign	0.40
IGL02824:Cyp4f39	APN	17	32,687,659 (GRCm39)	critical splice donor site	probably null
N/A:Cyp4f39	UTSW	17	32,687,655 (GRCm39)	missense	probably benign	0.03
R0145:Cyp4f39	UTSW	17	32,705,934 (GRCm39)	missense	possibly damaging	0.92
R0288:Cyp4f39	UTSW	17	32,711,410 (GRCm39)	missense	probably benign	0.01
R1676:Cyp4f39	UTSW	17	32,701,176 (GRCm39)	missense	probably benign	0.41
R1677:Cyp4f39	UTSW	17	32,711,304 (GRCm39)	missense	probably benign	0.30
R1874:Cyp4f39	UTSW	17	32,702,298 (GRCm39)	missense	probably damaging	1.00
R1920:Cyp4f39	UTSW	17	32,702,265 (GRCm39)	missense	probably benign	0.00
R2049:Cyp4f39	UTSW	17	32,701,112 (GRCm39)	missense	probably benign	0.41
R2139:Cyp4f39	UTSW	17	32,710,163 (GRCm39)	missense	probably benign	0.01
R2212:Cyp4f39	UTSW	17	32,706,037 (GRCm39)	missense	possibly damaging	0.62
R3416:Cyp4f39	UTSW	17	32,708,716 (GRCm39)	missense	possibly damaging	0.72
R3417:Cyp4f39	UTSW	17	32,708,716 (GRCm39)	missense	possibly damaging	0.72
R4486:Cyp4f39	UTSW	17	32,702,428 (GRCm39)	missense	probably damaging	1.00
R5023:Cyp4f39	UTSW	17	32,700,078 (GRCm39)	missense	probably damaging	1.00
R5523:Cyp4f39	UTSW	17	32,689,807 (GRCm39)	missense	probably benign	0.10
R5714:Cyp4f39	UTSW	17	32,700,799 (GRCm39)	missense	probably damaging	1.00
R6312:Cyp4f39	UTSW	17	32,702,268 (GRCm39)	missense	probably benign	0.00
R6477:Cyp4f39	UTSW	17	32,700,791 (GRCm39)	missense	probably damaging	0.99
R6950:Cyp4f39	UTSW	17	32,711,280 (GRCm39)	missense	probably damaging	1.00
R7228:Cyp4f39	UTSW	17	32,710,803 (GRCm39)	missense	probably damaging	1.00
R7311:Cyp4f39	UTSW	17	32,708,629 (GRCm39)	missense	probably damaging	1.00
R7341:Cyp4f39	UTSW	17	32,705,928 (GRCm39)	missense	probably damaging	1.00
R7345:Cyp4f39	UTSW	17	32,705,753 (GRCm39)	missense	probably damaging	1.00
R7405:Cyp4f39	UTSW	17	32,700,789 (GRCm39)	missense	probably benign	0.01
R7522:Cyp4f39	UTSW	17	32,705,946 (GRCm39)	missense	probably damaging	1.00
R7842:Cyp4f39	UTSW	17	32,702,291 (GRCm39)	missense	probably benign	0.01
R8223:Cyp4f39	UTSW	17	32,689,839 (GRCm39)	missense	probably benign	0.10
R8315:Cyp4f39	UTSW	17	32,701,176 (GRCm39)	missense	probably benign	0.41
R8469:Cyp4f39	UTSW	17	32,711,340 (GRCm39)	missense	probably damaging	1.00
R8789:Cyp4f39	UTSW	17	32,710,848 (GRCm39)	missense	probably damaging	1.00
R8865:Cyp4f39	UTSW	17	32,702,271 (GRCm39)	missense	probably damaging	1.00
R9049:Cyp4f39	UTSW	17	32,705,965 (GRCm39)	missense	probably damaging	0.99
R9115:Cyp4f39	UTSW	17	32,711,296 (GRCm39)	missense	probably damaging	1.00
R9402:Cyp4f39	UTSW	17	32,710,183 (GRCm39)	critical splice donor site	probably null
R9571:Cyp4f39	UTSW	17	32,702,196 (GRCm39)	missense	probably damaging	1.00
R9600:Cyp4f39	UTSW	17	32,705,920 (GRCm39)	missense	probably damaging	1.00
R9641:Cyp4f39	UTSW	17	32,705,982 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- ATTGGCAGTGAGGATCCTCC -3'
(R):5'- CGCTTCCTGGGCATCTACTAAG -3'

Sequencing Primer
(F):5'- AGTGAGGATCCTCCCTGGCTC -3'
(R):5'- TCAGCACTGAGATCATGTGC -3'

Posted On

2017-06-26