Mutagenetix > Incidental Mutation

Incidental Mutation 'R4592:Cyp4a10'

342889

Institutional Source

Beutler Lab

Gene Symbol

Cyp4a10

Ensembl Gene

ENSMUSG00000066072

Gene Name

cytochrome P450, family 4, subfamily a, polypeptide 10

Synonyms

RP1, D4Rp1, Cyp4a

MMRRC Submission

041808-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.067) question?

Stock #

R4592 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

115518264-115533649 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 115529493 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Isoleucine at position 446 (F446I)

Ref Sequence

ENSEMBL: ENSMUSP00000061126 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000058785] [ENSMUST00000094886]

AlphaFold

O88833

Predicted Effect

probably damaging
Transcript: ENSMUST00000058785
AA Change: F446I

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000061126
Gene: ENSMUSG00000066072
AA Change: F446I

Domain	Start	End	E-Value	Type
transmembrane domain	15	32	N/A	INTRINSIC
Pfam:p450	51	504	2.3e-133	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000094886
AA Change: F436I

PolyPhen 2 Score 0.939 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000092486
Gene: ENSMUSG00000066072
AA Change: F436I

Domain	Start	End	E-Value	Type
transmembrane domain	17	39	N/A	INTRINSIC
Pfam:p450	51	494	4.5e-129	PFAM

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.1%
20x: 94.8%

Validation Efficiency

98% (64/65)

MGI Phenotype

PHENOTYPE: Mice homozygous for a null mutation display salt-sensitive hypertension, decrease sodium excretion, and decreased urine output. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700001P01Rik	A	G	11: 97,771,615	S144P	probably damaging	Het
4933430I17Rik	T	A	4: 62,538,927	V161E	possibly damaging	Het
Arhgap40	T	C	2: 158,546,709	V521A	possibly damaging	Het
Atrn	T	C	2: 130,999,130		probably benign	Het
Casp12	T	C	9: 5,352,923		probably benign	Het
Ccdc189	C	T	7: 127,585,491	R172H	probably benign	Het
Cenpf	G	A	1: 189,679,033	T318M	probably damaging	Het
Clcn2	T	C	16: 20,709,142	K525E	probably damaging	Het
Cntln	A	G	4: 84,971,182	T301A	probably benign	Het
Crat	T	C	2: 30,415,366		probably benign	Het
Cul5	A	G	9: 53,633,727		probably benign	Het
Cxcl14	A	T	13: 56,295,895	I34N	probably damaging	Het
Cyp2b19	A	G	7: 26,771,394	I487V	probably benign	Het
D430041D05Rik	T	A	2: 104,233,479	M659L	possibly damaging	Het
Dclk3	T	C	9: 111,467,895	F169S	probably damaging	Het
Ddx52	T	C	11: 83,957,480	I532T	probably damaging	Het
Dnm1	T	C	2: 32,336,011	D352G	probably damaging	Het
Eif4g2	T	C	7: 111,078,302	E174G	probably damaging	Het
Enpp6	G	T	8: 47,093,032	V386L	probably damaging	Het
Eps15l1	T	C	8: 72,341,394	D904G	probably damaging	Het
Esrrb	A	G	12: 86,518,830	Y356C	probably damaging	Het
Flt3	A	T	5: 147,354,699	S619T	possibly damaging	Het
Fndc7	A	T	3: 108,858,902	C716S	probably damaging	Het
Gm10125	T	C	18: 5,525,375		noncoding transcript	Het
Gm26996	T	A	6: 130,579,485		noncoding transcript	Het
Grik2	A	T	10: 49,422,615	F50I	possibly damaging	Het
Guf1	T	C	5: 69,566,443	V367A	possibly damaging	Het
Hspg2	C	T	4: 137,518,940	R1010C	probably damaging	Het
Ifnar2	T	C	16: 91,391,796	V55A	probably benign	Het
Impg1	T	A	9: 80,440,854	I33F	probably benign	Het
Ltbp4	A	C	7: 27,325,183	V674G	probably damaging	Het
Mroh2b	T	A	15: 4,918,290	L529H	probably damaging	Het
Negr1	T	C	3: 157,208,386		probably benign	Het
Neurog3	A	G	10: 62,133,820	T25A	probably damaging	Het
Olfr1241	T	A	2: 89,482,756	K126N	probably damaging	Het
Olfr1420	T	C	19: 11,896,762	V247A	probably benign	Het
Olfr181	T	C	16: 58,926,092	T160A	probably benign	Het
Olfr555	A	C	7: 102,659,478	Y219S	probably damaging	Het
Pax8	T	A	2: 24,443,189		probably benign	Het
Pcsk6	A	C	7: 65,931,732	I254L	possibly damaging	Het
Pde3a	A	G	6: 141,459,216	K389R	probably benign	Het
Rab3gap1	C	A	1: 127,925,259		probably benign	Het
Rbck1	G	A	2: 152,318,733	Q428*	probably null	Het
Rptor	A	G	11: 119,798,840	D321G	probably null	Het
Sall2	C	A	14: 52,313,803	R643L	probably damaging	Het
Sdccag3	C	A	2: 26,388,897		probably benign	Het
Skp1a	T	C	11: 52,243,619	I59T	possibly damaging	Het
Slc23a3	T	G	1: 75,128,556	N456T	probably damaging	Het
Slc4a7	G	A	14: 14,778,850	G920S	probably damaging	Het
Smarcd3	T	C	5: 24,592,804	I467V	probably benign	Het
Spata31d1c	C	T	13: 65,036,060	A472V	probably damaging	Het
Srsf6	T	C	2: 162,931,723	I18T	probably damaging	Het
Stom	C	T	2: 35,323,746	G80D	probably damaging	Het
Svep1	A	T	4: 58,084,028	Y1915N	possibly damaging	Het
Tmf1	C	T	6: 97,173,400	V449I	probably benign	Het
Triobp	C	T	15: 78,967,095	A483V	probably benign	Het
Vdac1	G	A	11: 52,374,972		probably null	Het
Vmn2r75	T	G	7: 86,166,286	E123D	probably benign	Het
Vmn2r79	T	A	7: 87,004,111	V528D	possibly damaging	Het
Zdbf2	T	G	1: 63,306,591	N1376K	possibly damaging	Het

Other mutations in Cyp4a10

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00774:Cyp4a10	APN	4	115532538	missense	probably damaging	1.00
IGL01301:Cyp4a10	APN	4	115518455	missense	probably damaging	1.00
IGL02081:Cyp4a10	APN	4	115521172	missense	possibly damaging	0.87
IGL02373:Cyp4a10	APN	4	115521077	nonsense	probably null
IGL03411:Cyp4a10	APN	4	115525693	splice site	probably null
ANU18:Cyp4a10	UTSW	4	115518455	missense	probably damaging	1.00
PIT4142001:Cyp4a10	UTSW	4	115524875	missense	probably damaging	0.99
PIT4151001:Cyp4a10	UTSW	4	115524875	missense	probably damaging	0.99
R0016:Cyp4a10	UTSW	4	115521107	missense	probably damaging	1.00
R0368:Cyp4a10	UTSW	4	115525377	nonsense	probably null
R1319:Cyp4a10	UTSW	4	115521145	missense	probably damaging	0.98
R1440:Cyp4a10	UTSW	4	115529449	missense	probably damaging	1.00
R1531:Cyp4a10	UTSW	4	115518435	nonsense	probably null
R2008:Cyp4a10	UTSW	4	115525392	missense	probably damaging	0.98
R2064:Cyp4a10	UTSW	4	115524720	splice site	probably benign
R2083:Cyp4a10	UTSW	4	115525308	missense	possibly damaging	0.86
R2961:Cyp4a10	UTSW	4	115520270	missense	probably benign	0.02
R3028:Cyp4a10	UTSW	4	115518431	missense	possibly damaging	0.64
R3839:Cyp4a10	UTSW	4	115525347	missense	possibly damaging	0.85
R3930:Cyp4a10	UTSW	4	115524783	missense	probably benign	0.00
R4062:Cyp4a10	UTSW	4	115519701	missense	probably benign	0.06
R4097:Cyp4a10	UTSW	4	115529283	missense	probably damaging	0.99
R4298:Cyp4a10	UTSW	4	115532692	missense	probably damaging	1.00
R4482:Cyp4a10	UTSW	4	115532598	missense	probably damaging	1.00
R4715:Cyp4a10	UTSW	4	115525338	missense	probably benign	0.44
R4826:Cyp4a10	UTSW	4	115518344	missense	probably benign	0.00
R4834:Cyp4a10	UTSW	4	115525808	missense	probably damaging	1.00
R4922:Cyp4a10	UTSW	4	115521094	missense	probably benign	0.01
R5202:Cyp4a10	UTSW	4	115532615	missense	probably damaging	1.00
R5502:Cyp4a10	UTSW	4	115525505	missense	probably benign	0.21
R6269:Cyp4a10	UTSW	4	115524312	missense	probably damaging	1.00
R6349:Cyp4a10	UTSW	4	115525358	missense	probably benign	0.00
R7684:Cyp4a10	UTSW	4	115518352	missense	probably benign	0.18
R7863:Cyp4a10	UTSW	4	115518425	missense	probably benign	0.00
R8392:Cyp4a10	UTSW	4	115529478	nonsense	probably null
R8445:Cyp4a10	UTSW	4	115525594	missense	probably damaging	1.00
R8744:Cyp4a10	UTSW	4	115529470	missense	probably benign	0.00
R9264:Cyp4a10	UTSW	4	115524278	missense	probably benign	0.03
R9297:Cyp4a10	UTSW	4	115521178	missense	probably damaging	1.00
R9299:Cyp4a10	UTSW	4	115519750	missense	probably benign	0.00
R9393:Cyp4a10	UTSW	4	115525369	missense	probably damaging	1.00
Z1176:Cyp4a10	UTSW	4	115518326	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GCCAAATCCAGAGGTAGGAGTC -3'
(R):5'- AAGTGCTACCCTCCTTTAGTG -3'

Sequencing Primer
(F):5'- CAGAGGTAGGAGTCCCCCAAG -3'
(R):5'- TCCTTTAGTGCACAGACACATC -3'

Posted On

2015-09-24