Mutagenetix > Incidental Mutation

Incidental Mutation 'R4482:Cyp4a10'

331457

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

041738-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.052) question?

Stock #

R4482 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

115518264-115533649 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 115532598 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 467 (F467L)

Ref Sequence

ENSEMBL: ENSMUSP00000092486 (fasta)

Gene Model

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

AlphaFold

O88833

Predicted Effect

probably damaging
Transcript: ENSMUST00000058785
AA Change: F477L

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000061126
Gene: ENSMUSG00000066072
AA Change: F477L

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000094886
AA Change: F467L

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000092486
Gene: ENSMUSG00000066072
AA Change: F467L

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: 99.2%
3x: 98.5%
10x: 97.1%
20x: 94.9%

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: 31 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921536K21Rik	A	G	11: 3,895,008	V27A	possibly damaging	Het
Actn3	A	T	19: 4,863,408		probably null	Het
Adamts20	T	C	15: 94,345,920	Y642C	probably damaging	Het
Ankrd11	T	C	8: 122,893,489	D1187G	probably damaging	Het
Bag4	T	C	8: 25,785,044		probably benign	Het
Bsn	C	A	9: 108,114,664	K1296N	probably damaging	Het
Cct5	T	C	15: 31,597,569	D58G	probably damaging	Het
Dicer1	A	G	12: 104,706,277	Y904H	probably damaging	Het
Fam160a2	A	T	7: 105,389,674	F119L	probably benign	Het
Fbn1	A	T	2: 125,363,610		probably null	Het
Git1	T	A	11: 77,500,507	Y189N	possibly damaging	Het
Gm732	T	A	X: 107,946,631	L225F	possibly damaging	Het
Homer3	G	A	8: 70,290,143		probably null	Het
Itga6	T	A	2: 71,855,915	I1059N	probably damaging	Het
Kalrn	C	T	16: 33,989,810	D2525N	possibly damaging	Het
Kbtbd3	A	T	9: 4,331,051	Y475F	probably damaging	Het
Map3k6	T	C	4: 133,243,399	I199T	probably benign	Het
Mtmr7	T	C	8: 40,554,384	M503V	probably benign	Het
Muc4	A	G	16: 32,756,701	T2192A	unknown	Het
Nexn	T	C	3: 152,242,753	E391G	probably damaging	Het
Olfr190	G	T	16: 59,074,923	H52Q	probably benign	Het
Parg	A	G	14: 32,262,774	I254V	probably damaging	Het
Plxna2	C	T	1: 194,749,317	S538F	probably damaging	Het
Pomt2	G	A	12: 87,131,830	P290S	probably benign	Het
Rasl10a	T	A	11: 5,058,429	Y42N	probably damaging	Het
Slc4a8	C	A	15: 100,810,599	F871L	probably damaging	Het
Tdrd9	T	C	12: 112,014,501		probably null	Het
Trim21	G	A	7: 102,563,933	Q53*	probably null	Het
Triobp	T	C	15: 78,966,563	S306P	possibly damaging	Het
Vasn	A	T	16: 4,648,326	T46S	possibly damaging	Het
Zfp236	A	T	18: 82,644,221	F529Y	probably benign	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
R4592:Cyp4a10	UTSW	4	115529493	missense	probably damaging	0.99
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'- TGAACCTGTGACAGTAGGCC -3'
(R):5'- CAGTCAGATGTGGGTAGCAG -3'

Sequencing Primer
(F):5'- CTGTGACAGTAGGCCCTGAATG -3'
(R):5'- AATCTAGAGCAAGGTGTGTGTG -3'

Posted On

2015-07-21