Mutagenetix > Incidental Mutation

Incidental Mutation 'R2139:Cyp4f39'

236078

Institutional Source

Beutler Lab

Gene Symbol

Cyp4f39

Ensembl Gene

ENSMUSG00000061126

Gene Name

cytochrome P450, family 4, subfamily f, polypeptide 39

Synonyms

4732474A20Rik

MMRRC Submission

040142-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.344) question?

Stock #

R2139 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

32671697-32712294 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 32710163 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Methionine at position 440 (I440M)

Ref Sequence

ENSEMBL: ENSMUSP00000003413 (fasta)

Gene Model

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

AlphaFold

Q8BGU0

Predicted Effect

probably benign
Transcript: ENSMUST00000003413
AA Change: I440M

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000003413
Gene: ENSMUSG00000061126
AA Change: I440M

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

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.0%

Validation Efficiency

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931429L15Rik	A	T	9: 46,215,593 (GRCm39)	F318I	probably damaging	Het
Bfsp2	T	C	9: 103,327,074 (GRCm39)	K221R	probably benign	Het
Cacna1b	A	C	2: 24,569,485 (GRCm39)	M813R	probably benign	Het
Chaf1a	T	C	17: 56,372,226 (GRCm39)	L798P	probably damaging	Het
Chd8	G	A	14: 52,474,428 (GRCm39)	T201I	probably benign	Het
Col23a1	T	C	11: 51,464,861 (GRCm39)	S436P	probably benign	Het
Cubn	T	C	2: 13,340,978 (GRCm39)	I2248V	probably benign	Het
Dhcr24	G	T	4: 106,429,499 (GRCm39)	E191*	probably null	Het
Dlg5	T	C	14: 24,220,612 (GRCm39)	D522G	probably damaging	Het
Dnaja4	A	T	9: 54,616,506 (GRCm39)	M170L	probably benign	Het
Dop1b	T	C	16: 93,567,895 (GRCm39)	S1441P	possibly damaging	Het
Efcab3	C	T	11: 104,642,737 (GRCm39)	T1120I	possibly damaging	Het
Egr2	T	A	10: 67,376,702 (GRCm39)	S383T	probably damaging	Het
Elovl1	A	G	4: 118,288,303 (GRCm39)	D94G	probably damaging	Het
Erbb4	A	G	1: 68,385,788 (GRCm39)	V267A	probably damaging	Het
Esp38	T	A	17: 40,264,275 (GRCm39)	I11N	probably damaging	Het
Esrrb	T	C	12: 86,468,740 (GRCm39)		probably null	Het
Fbxo24	A	T	5: 137,611,327 (GRCm39)	S488T	probably damaging	Het
Fgfr1	T	G	8: 26,060,882 (GRCm39)	V618G	probably damaging	Het
Gak	C	T	5: 108,754,743 (GRCm39)		probably null	Het
Gpr61	A	T	3: 108,058,077 (GRCm39)	C195S	probably damaging	Het
Greb1l	A	C	18: 10,555,011 (GRCm39)	N1686H	probably damaging	Het
Hapln4	T	C	8: 70,540,788 (GRCm39)	F274L	probably benign	Het
Hoxc10	A	T	15: 102,875,912 (GRCm39)	Q207L	probably benign	Het
Hspa12a	A	G	19: 58,787,914 (GRCm39)	V636A	probably benign	Het
Il22ra2	T	A	10: 19,508,618 (GRCm39)	F215L	probably benign	Het
Il36b	A	G	2: 24,044,672 (GRCm39)	N24S	probably benign	Het
Kank1	G	A	19: 25,389,117 (GRCm39)	G930D	probably benign	Het
Kif13a	T	C	13: 46,905,945 (GRCm39)	D666G	possibly damaging	Het
Krt86	A	T	15: 101,371,639 (GRCm39)	I70F	probably benign	Het
Lgi4	A	T	7: 30,762,548 (GRCm39)	I112F	probably damaging	Het
Lrrc8c	T	G	5: 105,754,558 (GRCm39)	I111S	probably damaging	Het
Ltbp2	T	C	12: 84,862,753 (GRCm39)	N600S	probably damaging	Het
Mbd3l2	A	T	9: 18,356,254 (GRCm39)	D193V	probably damaging	Het
Mroh5	T	A	15: 73,661,940 (GRCm39)	D417V	probably damaging	Het
Ms4a18	A	T	19: 10,974,695 (GRCm39)	V332D	possibly damaging	Het
Mtarc1	G	A	1: 184,527,632 (GRCm39)	T276I	probably benign	Het
Muc4	T	A	16: 32,581,599 (GRCm39)	I2488N	unknown	Het
Myrf	C	G	19: 10,193,831 (GRCm39)	A532P	probably damaging	Het
Nav3	T	C	10: 109,688,996 (GRCm39)	N427S	probably benign	Het
Neb	T	C	2: 52,102,600 (GRCm39)	S4315G	probably damaging	Het
Nyap2	A	G	1: 81,218,983 (GRCm39)	D335G	probably damaging	Het
Olfm4	T	C	14: 80,251,755 (GRCm39)	L225P	probably benign	Het
Or10z1	A	T	1: 174,078,302 (GRCm39)		probably null	Het
Or4c104	T	A	2: 88,586,437 (GRCm39)	N194I	probably damaging	Het
Or51ac3	A	T	7: 103,213,961 (GRCm39)	I175K	possibly damaging	Het
Or8s2	T	C	15: 98,276,145 (GRCm39)	N282S	probably damaging	Het
Pcdhac2	T	G	18: 37,279,139 (GRCm39)	Y706*	probably null	Het
Pgbd1	A	G	13: 21,607,190 (GRCm39)	S335P	probably damaging	Het
Pkhd1l1	A	C	15: 44,393,214 (GRCm39)	I1850L	possibly damaging	Het
Pogz	T	C	3: 94,778,318 (GRCm39)	V304A	possibly damaging	Het
Rap1a	T	C	3: 105,646,856 (GRCm39)	I100V	probably damaging	Het
Slc4a4	A	T	5: 89,194,123 (GRCm39)	K201M	probably damaging	Het
Slc6a1	T	C	6: 114,281,022 (GRCm39)	F8S	possibly damaging	Het
St18	T	G	1: 6,880,839 (GRCm39)	M444R	possibly damaging	Het
Syna	G	T	5: 134,588,106 (GRCm39)	S281*	probably null	Het
Tgm1	A	G	14: 55,947,000 (GRCm39)	V336A	probably damaging	Het
Tle6	G	T	10: 81,429,868 (GRCm39)	T400K	probably damaging	Het
Tmem181a	T	C	17: 6,348,481 (GRCm39)	W328R	probably damaging	Het
Trim7	T	C	11: 48,729,721 (GRCm39)	F193L	probably benign	Het
Txndc16	A	T	14: 45,410,046 (GRCm39)	M178K	probably damaging	Het
Unc80	C	T	1: 66,560,740 (GRCm39)	H823Y	possibly damaging	Het
Vmn1r74	A	G	7: 11,581,243 (GRCm39)	Y181C	probably damaging	Het
Vmn2r56	T	A	7: 12,446,890 (GRCm39)	K421*	probably null	Het
Vwa7	T	G	17: 35,242,406 (GRCm39)	S503R	probably benign	Het
Washc5	G	A	15: 59,221,991 (GRCm39)	T135M	probably damaging	Het
Wdr6	T	C	9: 108,451,322 (GRCm39)	I854V	probably benign	Het
Zfp507	A	G	7: 35,493,148 (GRCm39)	C632R	probably damaging	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
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
R6010:Cyp4f39	UTSW	17	32,701,160 (GRCm39)	missense	probably damaging	0.99
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'- TTTTCACAGAAGGATGGACAGG -3'
(R):5'- CACCTTGGGGCCATTTGTTC -3'

Sequencing Primer
(F):5'- AAGTGGCAGCTGGCTCAC -3'
(R):5'- CTTTAAGGTCCATGAGGGCATAC -3'

Posted On

2014-10-01