Mutagenetix > Incidental Mutation

Incidental Mutation 'R8324:Cyp4f40'

644025

Institutional Source

Beutler Lab

Gene Symbol

Cyp4f40

Ensembl Gene

ENSMUSG00000090700

Gene Name

cytochrome P450, family 4, subfamily f, polypeptide 40

Synonyms

EG631304

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.076) question?

Stock #

R8324 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

32659410-32676687 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 32659528 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 15 (S15P)

Ref Sequence

ENSEMBL: ENSMUSP00000129536 (fasta)

Gene Model

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

AlphaFold

G3UW81

Predicted Effect

probably benign
Transcript: ENSMUST00000165061
AA Change: S15P

PolyPhen 2 Score 0.350 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000129536
Gene: ENSMUSG00000090700
AA Change: S15P

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: 99.6%
20x: 98.6%

Validation Efficiency

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	T	C	11: 9,290,395	S753P	probably damaging	Het
Acan	A	G	7: 79,091,056	E390G	probably damaging	Het
Antxr2	T	C	5: 97,938,509	N413S	probably damaging	Het
Bace2	C	T	16: 97,356,908	A36V	possibly damaging	Het
Caprin1	G	A	2: 103,783,181	R79*	probably null	Het
Cdan1	A	G	2: 120,727,325	V507A	probably benign	Het
Cdkl3	T	A	11: 52,022,879		probably null	Het
Chst5	A	T	8: 111,890,508	L160Q	probably benign	Het
Col11a1	C	G	3: 114,164,410	P1111R	probably damaging	Het
Col6a6	T	A	9: 105,755,654	E1470D	probably benign	Het
Cpped1	T	A	16: 11,805,476	T274S	probably benign	Het
Ctnnbl1	G	A	2: 157,779,815	E75K	probably damaging	Het
Ddx46	T	C	13: 55,663,914	S643P	probably damaging	Het
Defb34	A	G	8: 19,123,798	Q16R	probably null	Het
Dhrs2	T	A	14: 55,238,764	V147E	probably damaging	Het
Dnah5	G	T	15: 28,346,865	R2498L	probably damaging	Het
Dpp10	T	A	1: 123,854,172	I93F	probably benign	Het
Eef1e1	T	A	13: 38,655,069	D104V	probably damaging	Het
Egfr	A	G	11: 16,858,971	Y55C	probably damaging	Het
Egfr	A	C	11: 16,908,885	I955L	probably damaging	Het
Ehbp1l1	C	A	19: 5,719,998	V426F	possibly damaging	Het
Fam234a	C	T	17: 26,218,698	V108I	probably benign	Het
Fzd8	T	A	18: 9,214,688	M590K	probably damaging	Het
Gm13287	T	C	4: 88,803,638	S129P	probably damaging	Het
Heatr5b	A	G	17: 78,755,364	S1919P	possibly damaging	Het
Hspg2	C	G	4: 137,518,979	P1023A	possibly damaging	Het
Ikbkap	C	T	4: 56,772,491	E877K	probably damaging	Het
Itpr2	T	C	6: 146,328,398	E1233G	probably damaging	Het
Kcnmb4	A	G	10: 116,418,314	L186P	probably damaging	Het
Krt72	T	A	15: 101,782,145	Y224F	probably damaging	Het
Loxhd1	T	C	18: 77,339,579		probably null	Het
Lrguk	A	G	6: 34,102,571	T914A	probably benign	Het
Lrrtm4	A	G	6: 80,021,991	T129A	probably damaging	Het
Mmp13	A	T	9: 7,276,636	I244F	possibly damaging	Het
Mob1a	T	A	6: 83,329,974	L41Q	probably damaging	Het
Mtcl1	T	C	17: 66,436,217	R426G	probably damaging	Het
Mybbp1a	T	C	11: 72,445,288		probably null	Het
Myh9	A	G	15: 77,788,917		probably null	Het
Myo1d	T	A	11: 80,557,521	D926V	probably damaging	Het
Ncapg	T	G	5: 45,695,668	H825Q	probably damaging	Het
Olfml1	T	C	7: 107,590,363	S212P	probably benign	Het
Olfr656	G	A	7: 104,618,114	R145H	probably benign	Het
Pak2	T	C	16: 32,052,211	N51S	probably benign	Het
Papln	T	C	12: 83,786,619	Y1132H	probably damaging	Het
Pax3	T	A	1: 78,193,789	R134S	probably damaging	Het
Pdzrn4	A	G	15: 92,770,937	E990G	probably damaging	Het
Peak1	A	T	9: 56,207,476	W1394R	probably damaging	Het
Pkn2	T	C	3: 142,829,010	N285D	probably benign	Het
Pramef12	A	C	4: 144,395,857	L39R	probably damaging	Het
Prrc2a	A	G	17: 35,156,984	S897P	possibly damaging	Het
Rad51	A	G	2: 119,123,831	T131A	possibly damaging	Het
Rc3h2	T	A	2: 37,400,726	T255S	possibly damaging	Het
Repin1	G	T	6: 48,597,345	E403*	probably null	Het
Rictor	T	A	15: 6,745,562	V125E	probably damaging	Het
Rps6ka5	C	T	12: 100,558,487	D664N	possibly damaging	Het
Rreb1	T	A	13: 37,947,621	W1584R	probably damaging	Het
Rxra	T	C	2: 27,741,183	I142T	probably damaging	Het
Sall2	T	C	14: 52,312,886	T951A	probably benign	Het
Slc15a2	T	G	16: 36,759,307	N359T	probably damaging	Het
Slc23a1	C	T	18: 35,622,535	G436E	probably damaging	Het
Slc6a13	T	C	6: 121,337,414	*603Q	probably null	Het
Sptb	T	C	12: 76,619,162	D894G	possibly damaging	Het
Srgn	A	G	10: 62,507,665	L17P	probably damaging	Het
Tmprss9	T	C	10: 80,897,371		probably null	Het
Trav9n-4	T	C	14: 53,294,946	F86L	probably benign	Het
Trp63	A	G	16: 25,876,734	Y482C	unknown	Het
Ttc9b	G	T	7: 27,653,969	A15S	probably damaging	Het
Urb1	A	T	16: 90,791,190	I410N	probably damaging	Het
Vmn2r82	A	T	10: 79,378,893	K237*	probably null	Het
Wwox	G	A	8: 114,489,005		probably null	Het

Other mutations in Cyp4f40

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01299:Cyp4f40	APN	17	32667974	missense	probably benign	0.00
IGL01563:Cyp4f40	APN	17	32673956	missense	probably damaging	0.99
IGL01801:Cyp4f40	APN	17	32676305	missense	probably damaging	1.00
IGL01960:Cyp4f40	APN	17	32659561	missense	probably benign	0.25
IGL02387:Cyp4f40	APN	17	32668010	missense	probably damaging	1.00
IGL02631:Cyp4f40	APN	17	32675635	splice site	probably benign
IGL02967:Cyp4f40	APN	17	32674248	missense	probably damaging	1.00
R0030:Cyp4f40	UTSW	17	32675973	missense	probably damaging	1.00
R0103:Cyp4f40	UTSW	17	32676308	missense	probably damaging	1.00
R0103:Cyp4f40	UTSW	17	32676309	nonsense	probably null
R0180:Cyp4f40	UTSW	17	32659667	missense	probably benign	0.00
R1413:Cyp4f40	UTSW	17	32673939	missense	probably benign	0.35
R2882:Cyp4f40	UTSW	17	32668073	missense	probably benign	0.05
R3903:Cyp4f40	UTSW	17	32659624	missense	possibly damaging	0.51
R4378:Cyp4f40	UTSW	17	32668029	missense	probably null	0.44
R4465:Cyp4f40	UTSW	17	32671212	missense	probably benign	0.00
R4808:Cyp4f40	UTSW	17	32674275	missense	probably benign	0.23
R5377:Cyp4f40	UTSW	17	32675616	missense	probably null	0.61
R5395:Cyp4f40	UTSW	17	32669853	missense	probably benign	0.01
R5523:Cyp4f40	UTSW	17	32669822	missense	probably damaging	0.98
R5889:Cyp4f40	UTSW	17	32675757	missense	probably benign	0.15
R6624:Cyp4f40	UTSW	17	32671180	missense	possibly damaging	0.82
R6692:Cyp4f40	UTSW	17	32675742	missense	possibly damaging	0.48
R6859:Cyp4f40	UTSW	17	32675949	missense	probably benign	0.19
R7792:Cyp4f40	UTSW	17	32671169	missense	probably damaging	1.00
R8711:Cyp4f40	UTSW	17	32675988	critical splice donor site	probably benign
R8755:Cyp4f40	UTSW	17	32667983	nonsense	probably null
R8913:Cyp4f40	UTSW	17	32667836	missense	probably benign	0.05
R9013:Cyp4f40	UTSW	17	32671199	missense	probably benign
R9548:Cyp4f40	UTSW	17	32671184	missense	probably benign	0.01
Z1088:Cyp4f40	UTSW	17	32674002	splice site	probably null
Z1177:Cyp4f40	UTSW	17	32671159	missense	probably benign	0.04
Z1177:Cyp4f40	UTSW	17	32676449	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- TGGGTTTCCACTACCACCTG -3'
(R):5'- ATCCCGGGACATCCTTCTAAC -3'

Sequencing Primer
(F):5'- ACCACCTGATTTGACATCGG -3'
(R):5'- AAACTCCTTGACCACTGGGAGG -3'

Posted On

2020-09-02