Mutagenetix > Incidental Mutation

Incidental Mutation 'R2961:Cyp4a10'

255903

Institutional Source

Beutler Lab

Gene Symbol

Cyp4a10

Ensembl Gene

ENSMUSG00000066072

Gene Name

cytochrome P450, family 4, subfamily a, polypeptide 10

Synonyms

Msp-3, Cyp4a, RP1, D4Rp1

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.056) question?

Stock #

R2961 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

115375484-115390846 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 115377467 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Glutamic Acid at position 118 (A118E)

Ref Sequence

ENSEMBL: ENSMUSP00000061126 (fasta)

Gene Model

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

AlphaFold

O88833

Predicted Effect

probably benign
Transcript: ENSMUST00000058785
AA Change: A118E

PolyPhen 2 Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000061126
Gene: ENSMUSG00000066072
AA Change: A118E

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

Predicted Effect

probably benign
Transcript: ENSMUST00000094886

SMART Domains

Protein: ENSMUSP00000092486
Gene: ENSMUSG00000066072

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

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.1%
20x: 94.3%

Validation Efficiency

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: 15 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akna	A	G	4: 63,313,181 (GRCm39)	V314A	probably benign	Het
Cdk5rap2	ATGTG	ATG	4: 70,208,214 (GRCm39)		probably null	Het
Dpys	A	G	15: 39,648,010 (GRCm39)	M515T	probably benign	Het
Eri2	T	C	7: 119,384,567 (GRCm39)	T645A	probably benign	Het
Gpd2	C	T	2: 57,228,987 (GRCm39)	R264*	probably null	Het
Kirrel1	C	T	3: 86,996,458 (GRCm39)	M380I	probably null	Het
Klk14	G	A	7: 43,341,501 (GRCm39)	C51Y	probably damaging	Het
Mmp27	G	T	9: 7,573,603 (GRCm39)	D232Y	probably damaging	Het
Mybpc1	T	C	10: 88,367,641 (GRCm39)	D876G	probably damaging	Het
Rin3	C	A	12: 102,279,305 (GRCm39)	S38*	probably null	Het
Sptb	T	C	12: 76,650,356 (GRCm39)	D1787G	probably benign	Het
Trbv13-2	A	T	6: 41,098,574 (GRCm39)	M50L	probably damaging	Het
Ubxn1	T	A	19: 8,851,167 (GRCm39)	V164D	probably damaging	Het
Zfp608	T	C	18: 55,031,544 (GRCm39)	T799A	possibly damaging	Het
Zfr	G	A	15: 12,162,319 (GRCm39)	R823H	probably benign	Het

Other mutations in Cyp4a10

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00774:Cyp4a10	APN	4	115,389,735 (GRCm39)	missense	probably damaging	1.00
IGL01301:Cyp4a10	APN	4	115,375,652 (GRCm39)	missense	probably damaging	1.00
IGL02081:Cyp4a10	APN	4	115,378,369 (GRCm39)	missense	possibly damaging	0.87
IGL02373:Cyp4a10	APN	4	115,378,274 (GRCm39)	nonsense	probably null
IGL03411:Cyp4a10	APN	4	115,382,890 (GRCm39)	splice site	probably null
ANU18:Cyp4a10	UTSW	4	115,375,652 (GRCm39)	missense	probably damaging	1.00
PIT4142001:Cyp4a10	UTSW	4	115,382,072 (GRCm39)	missense	probably damaging	0.99
PIT4151001:Cyp4a10	UTSW	4	115,382,072 (GRCm39)	missense	probably damaging	0.99
R0016:Cyp4a10	UTSW	4	115,378,304 (GRCm39)	missense	probably damaging	1.00
R0368:Cyp4a10	UTSW	4	115,382,574 (GRCm39)	nonsense	probably null
R1319:Cyp4a10	UTSW	4	115,378,342 (GRCm39)	missense	probably damaging	0.98
R1440:Cyp4a10	UTSW	4	115,386,646 (GRCm39)	missense	probably damaging	1.00
R1531:Cyp4a10	UTSW	4	115,375,632 (GRCm39)	nonsense	probably null
R2008:Cyp4a10	UTSW	4	115,382,589 (GRCm39)	missense	probably damaging	0.98
R2064:Cyp4a10	UTSW	4	115,381,917 (GRCm39)	splice site	probably benign
R2083:Cyp4a10	UTSW	4	115,382,505 (GRCm39)	missense	possibly damaging	0.86
R3028:Cyp4a10	UTSW	4	115,375,628 (GRCm39)	missense	possibly damaging	0.64
R3839:Cyp4a10	UTSW	4	115,382,544 (GRCm39)	missense	possibly damaging	0.85
R3930:Cyp4a10	UTSW	4	115,381,980 (GRCm39)	missense	probably benign	0.00
R4062:Cyp4a10	UTSW	4	115,376,898 (GRCm39)	missense	probably benign	0.06
R4097:Cyp4a10	UTSW	4	115,386,480 (GRCm39)	missense	probably damaging	0.99
R4298:Cyp4a10	UTSW	4	115,389,889 (GRCm39)	missense	probably damaging	1.00
R4482:Cyp4a10	UTSW	4	115,389,795 (GRCm39)	missense	probably damaging	1.00
R4592:Cyp4a10	UTSW	4	115,386,690 (GRCm39)	missense	probably damaging	0.99
R4715:Cyp4a10	UTSW	4	115,382,535 (GRCm39)	missense	probably benign	0.44
R4826:Cyp4a10	UTSW	4	115,375,541 (GRCm39)	missense	probably benign	0.00
R4834:Cyp4a10	UTSW	4	115,383,005 (GRCm39)	missense	probably damaging	1.00
R4922:Cyp4a10	UTSW	4	115,378,291 (GRCm39)	missense	probably benign	0.01
R5202:Cyp4a10	UTSW	4	115,389,812 (GRCm39)	missense	probably damaging	1.00
R5502:Cyp4a10	UTSW	4	115,382,702 (GRCm39)	missense	probably benign	0.21
R6269:Cyp4a10	UTSW	4	115,381,509 (GRCm39)	missense	probably damaging	1.00
R6349:Cyp4a10	UTSW	4	115,382,555 (GRCm39)	missense	probably benign	0.00
R7684:Cyp4a10	UTSW	4	115,375,549 (GRCm39)	missense	probably benign	0.18
R7863:Cyp4a10	UTSW	4	115,375,622 (GRCm39)	missense	probably benign	0.00
R8392:Cyp4a10	UTSW	4	115,386,675 (GRCm39)	nonsense	probably null
R8445:Cyp4a10	UTSW	4	115,382,791 (GRCm39)	missense	probably damaging	1.00
R8744:Cyp4a10	UTSW	4	115,386,667 (GRCm39)	missense	probably benign	0.00
R9264:Cyp4a10	UTSW	4	115,381,475 (GRCm39)	missense	probably benign	0.03
R9297:Cyp4a10	UTSW	4	115,378,375 (GRCm39)	missense	probably damaging	1.00
R9299:Cyp4a10	UTSW	4	115,376,947 (GRCm39)	missense	probably benign	0.00
R9393:Cyp4a10	UTSW	4	115,382,566 (GRCm39)	missense	probably damaging	1.00
Z1176:Cyp4a10	UTSW	4	115,375,523 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CTTCCTAAGCCTGACTGTTAGGAC -3'
(R):5'- CCAGCTAGTGTCACATGCTG -3'

Sequencing Primer
(F):5'- TGTTAGGACAGAGCTTGAGGG -3'
(R):5'- TGACAGCTGTGAGATAAAAATTGCC -3'

Posted On

2014-12-29