Mutagenetix > Incidental Mutation

Incidental Mutation 'R8711:Cyp4f40'

669609

Institutional Source

Beutler Lab

Gene Symbol

Cyp4f40

Ensembl Gene

ENSMUSG00000090700

Gene Name

cytochrome P450, family 4, subfamily f, polypeptide 40

Synonyms

EG631304

MMRRC Submission

068565-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.059) question?

Stock #

R8711 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

32877874-32895888 bp(+) (GRCm39)

Type of Mutation

critical splice donor site

DNA Base Change (assembly)

T to C at 32894962 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000129536 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000165061]

AlphaFold

G3UW81

Predicted Effect

probably benign
Transcript: ENSMUST00000165061

SMART Domains

Protein: ENSMUSP00000129536
Gene: ENSMUSG00000090700

Domain	Start	End	E-Value	Type
transmembrane domain	7	29	N/A	INTRINSIC
Pfam:p450	52	515	2.2e-130	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

99% (70/71)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene, CYP4F11, 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. Another member of this family, CYP4F2, is approximately 16 kb away. Alternatively spliced transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadat	T	A	8: 60,969,120 (GRCm39)	S122T	probably benign	Het
Abcb11	G	A	2: 69,095,856 (GRCm39)	T828I	probably damaging	Het
Atp5f1b	T	A	10: 127,921,369 (GRCm39)	N222K	probably damaging	Het
C1qbp	T	C	11: 70,869,313 (GRCm39)	T211A	probably benign	Het
Ccdc85a	A	T	11: 28,384,146 (GRCm39)	S410T	possibly damaging	Het
Chd4	T	A	6: 125,100,485 (GRCm39)		probably benign	Het
Col10a1	G	T	10: 34,270,824 (GRCm39)	K265N	probably damaging	Het
Cyp2j5	A	T	4: 96,529,660 (GRCm39)	M237K	possibly damaging	Het
Cytip	A	T	2: 58,041,135 (GRCm39)	F90L	probably damaging	Het
Dnah7b	A	G	1: 46,214,598 (GRCm39)	D1121G	probably damaging	Het
Dohh	G	T	10: 81,221,859 (GRCm39)	E84D	probably benign	Het
Efcab3	A	G	11: 104,743,371 (GRCm39)	I2187V	probably benign	Het
Eif1ad19	T	A	12: 87,740,130 (GRCm39)	D143V	unknown	Het
Eif4g2	T	C	7: 110,673,127 (GRCm39)	Y855C	probably damaging	Het
Ell	T	A	8: 71,034,331 (GRCm39)		probably benign	Het
Ermap	T	C	4: 119,044,355 (GRCm39)	Y147C	probably damaging	Het
Fasn	T	C	11: 120,709,944 (GRCm39)	D371G	possibly damaging	Het
Fat2	A	G	11: 55,159,129 (GRCm39)	S3348P	probably benign	Het
Fhad1	T	A	4: 141,684,924 (GRCm39)	N472Y	probably benign	Het
Flad1	A	G	3: 89,316,415 (GRCm39)	V49A	probably damaging	Het
Fpr-rs3	T	C	17: 20,844,554 (GRCm39)	T196A	probably benign	Het
Fsip2	A	G	2: 82,815,246 (GRCm39)	N3660D	possibly damaging	Het
Gabrp	T	A	11: 33,505,023 (GRCm39)	L259F	probably damaging	Het
Gm16686	A	T	4: 88,673,473 (GRCm39)	W119R	unknown	Het
Gng2	C	T	14: 19,941,438 (GRCm39)	M1I	probably null	Het
Hmgxb3	T	C	18: 61,290,721 (GRCm39)	N384S	probably benign	Het
Ibtk	T	C	9: 85,606,208 (GRCm39)	I440V	probably benign	Het
Il11ra1	A	G	4: 41,767,539 (GRCm39)	D297G	probably damaging	Het
Irf2bpl	T	C	12: 86,928,496 (GRCm39)	I726V	probably benign	Het
Klk1b5	A	G	7: 43,867,996 (GRCm39)	N56S	probably benign	Het
Laptm4b	T	A	15: 34,277,648 (GRCm39)	V193E	probably damaging	Het
Lrrc37a	A	T	11: 103,388,350 (GRCm39)	C2358*	probably null	Het
Ltbp2	C	T	12: 84,900,515 (GRCm39)	S269N	probably benign	Het
Morc2a	T	G	11: 3,630,013 (GRCm39)	Y450D	probably damaging	Het
Mycbp2	A	T	14: 103,407,430 (GRCm39)	I2740K	probably benign	Het
Naif1	T	A	2: 32,344,848 (GRCm39)	V184E	probably damaging	Het
Neurl1b	T	C	17: 26,660,747 (GRCm39)	V540A	probably damaging	Het
Nt5c1b	T	A	12: 10,431,450 (GRCm39)	F451Y	probably damaging	Het
Obox3	A	G	7: 15,360,148 (GRCm39)	S174P	probably benign	Het
Obscn	T	C	11: 58,951,894 (GRCm39)	E3953G	probably damaging	Het
Or4a74	A	C	2: 89,440,291 (GRCm39)	S52A	probably benign	Het
Or4p19	A	T	2: 88,242,595 (GRCm39)	C136S	probably damaging	Het
Pkd1l1	G	A	11: 8,815,550 (GRCm39)	H1904Y		Het
Plec	C	T	15: 76,059,531 (GRCm39)	D3469N	probably benign	Het
Polr1b	A	G	2: 128,943,064 (GRCm39)	T20A	probably damaging	Het
Ppp1r16b	G	A	2: 158,603,286 (GRCm39)	E404K	possibly damaging	Het
Prkce	T	A	17: 86,795,625 (GRCm39)	N287K	probably damaging	Het
Rchy1	C	A	5: 92,105,397 (GRCm39)	C108F	probably damaging	Het
Scpppq1	G	A	5: 104,219,956 (GRCm39)	T78I	unknown	Het
Sema6d	A	G	2: 124,502,232 (GRCm39)	Y572C	possibly damaging	Het
Sh3rf1	T	A	8: 61,783,030 (GRCm39)	I248K	probably damaging	Het
Sin3b	T	C	8: 73,450,026 (GRCm39)	L30P	probably damaging	Het
Slc25a47	G	A	12: 108,820,313 (GRCm39)	G106S	probably damaging	Het
Slc43a2	A	C	11: 75,457,879 (GRCm39)	M385L	probably benign	Het
Slc43a3	A	G	2: 84,768,671 (GRCm39)	T97A	probably damaging	Het
Slc9b2	T	A	3: 135,030,351 (GRCm39)	S223T	probably benign	Het
Smc5	A	T	19: 23,243,058 (GRCm39)	C118S	probably damaging	Het
Smpdl3b	T	C	4: 132,472,491 (GRCm39)	D94G	probably damaging	Het
Spred3	A	G	7: 28,866,086 (GRCm39)	V71A	possibly damaging	Het
Srsf5	T	A	12: 80,994,328 (GRCm39)	S86T	possibly damaging	Het
Sycp2	A	G	2: 177,990,088 (GRCm39)	V1386A	probably benign	Het
Syne2	T	C	12: 76,104,258 (GRCm39)	L743P	probably damaging	Het
Synj1	A	G	16: 90,806,971 (GRCm39)	V62A	probably damaging	Het
Tbc1d9b	T	C	11: 50,047,578 (GRCm39)	L637P	probably damaging	Het
Tcf12	T	G	9: 71,757,097 (GRCm39)	S697R	possibly damaging	Het
Tnfrsf11b	T	A	15: 54,123,508 (GRCm39)	Y31F	possibly damaging	Het
Trav5n-4	T	C	14: 53,550,362 (GRCm39)	M1T	probably null	Het
Trbv13-2	A	G	6: 41,098,716 (GRCm39)	E97G	probably benign	Het
Trpa1	G	A	1: 14,980,998 (GRCm39)	P135S	probably damaging	Het
Ugt1a6a	A	C	1: 88,066,590 (GRCm39)	D132A	possibly damaging	Het
Vmn2r8	A	T	5: 108,945,962 (GRCm39)	D548E	possibly damaging	Het
Zbtb39	A	T	10: 127,578,815 (GRCm39)	D463V	probably damaging	Het
Zc3h12c	C	T	9: 52,037,858 (GRCm39)		probably benign	Het
Zfp952	C	T	17: 33,222,004 (GRCm39)	P161L	possibly damaging	Het

Other mutations in Cyp4f40

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01299:Cyp4f40	APN	17	32,886,948 (GRCm39)	missense	probably benign	0.00
IGL01563:Cyp4f40	APN	17	32,892,930 (GRCm39)	missense	probably damaging	0.99
IGL01801:Cyp4f40	APN	17	32,895,279 (GRCm39)	missense	probably damaging	1.00
IGL01960:Cyp4f40	APN	17	32,878,535 (GRCm39)	missense	probably benign	0.25
IGL02387:Cyp4f40	APN	17	32,886,984 (GRCm39)	missense	probably damaging	1.00
IGL02631:Cyp4f40	APN	17	32,894,609 (GRCm39)	splice site	probably benign
IGL02967:Cyp4f40	APN	17	32,893,222 (GRCm39)	missense	probably damaging	1.00
R0030:Cyp4f40	UTSW	17	32,894,947 (GRCm39)	missense	probably damaging	1.00
R0103:Cyp4f40	UTSW	17	32,895,283 (GRCm39)	nonsense	probably null
R0103:Cyp4f40	UTSW	17	32,895,282 (GRCm39)	missense	probably damaging	1.00
R0180:Cyp4f40	UTSW	17	32,878,641 (GRCm39)	missense	probably benign	0.00
R1413:Cyp4f40	UTSW	17	32,892,913 (GRCm39)	missense	probably benign	0.35
R2882:Cyp4f40	UTSW	17	32,887,047 (GRCm39)	missense	probably benign	0.05
R3903:Cyp4f40	UTSW	17	32,878,598 (GRCm39)	missense	possibly damaging	0.51
R4378:Cyp4f40	UTSW	17	32,887,003 (GRCm39)	missense	probably null	0.44
R4465:Cyp4f40	UTSW	17	32,890,186 (GRCm39)	missense	probably benign	0.00
R4808:Cyp4f40	UTSW	17	32,893,249 (GRCm39)	missense	probably benign	0.23
R5377:Cyp4f40	UTSW	17	32,894,590 (GRCm39)	missense	probably null	0.61
R5395:Cyp4f40	UTSW	17	32,888,827 (GRCm39)	missense	probably benign	0.01
R5523:Cyp4f40	UTSW	17	32,888,796 (GRCm39)	missense	probably damaging	0.98
R5889:Cyp4f40	UTSW	17	32,894,731 (GRCm39)	missense	probably benign	0.15
R6624:Cyp4f40	UTSW	17	32,890,154 (GRCm39)	missense	possibly damaging	0.82
R6692:Cyp4f40	UTSW	17	32,894,716 (GRCm39)	missense	possibly damaging	0.48
R6859:Cyp4f40	UTSW	17	32,894,923 (GRCm39)	missense	probably benign	0.19
R7792:Cyp4f40	UTSW	17	32,890,143 (GRCm39)	missense	probably damaging	1.00
R8324:Cyp4f40	UTSW	17	32,878,502 (GRCm39)	missense	probably benign	0.35
R8755:Cyp4f40	UTSW	17	32,886,957 (GRCm39)	nonsense	probably null
R8913:Cyp4f40	UTSW	17	32,886,810 (GRCm39)	missense	probably benign	0.05
R9013:Cyp4f40	UTSW	17	32,890,173 (GRCm39)	missense	probably benign
R9548:Cyp4f40	UTSW	17	32,890,158 (GRCm39)	missense	probably benign	0.01
Z1088:Cyp4f40	UTSW	17	32,892,976 (GRCm39)	splice site	probably null
Z1177:Cyp4f40	UTSW	17	32,895,423 (GRCm39)	missense	probably damaging	0.98
Z1177:Cyp4f40	UTSW	17	32,890,133 (GRCm39)	missense	probably benign	0.04

Predicted Primers

PCR Primer
(F):5'- GCCCCAGGATATCAGATTCC -3'
(R):5'- ATCGGTCACGTTGAGAGATGC -3'

Sequencing Primer
(F):5'- GATTCCTAGCACATTTAAGACTCTG -3'
(R):5'- TCGGTCACGTTGAGAGATGCTAATAC -3'

Posted On

2021-04-30