Mutagenetix > Incidental Mutation

Incidental Mutation 'R0016:Cyp4a10'

32686

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

038311-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.053) question?

Stock #

R0016 (G1)

Quality Score

225

Status

Validated (trace)

Chromosome

Chromosomal Location

115518264-115533649 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 115521107 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Leucine at position 130 (Q130L)

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: Q140L

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000061126
Gene: ENSMUSG00000066072
AA Change: Q140L

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: Q130L

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

SMART Domains

Protein: ENSMUSP00000092486
Gene: ENSMUSG00000066072
AA Change: Q130L

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

0.5602

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.4%
20x: 93.2%

Validation Efficiency

100% (58/58)

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca12	A	C	1: 71,294,800	V1181G	probably benign	Het
Adamts12	A	T	15: 11,217,829	I291F	probably damaging	Het
Aspm	G	C	1: 139,479,544	Q2056H	probably benign	Het
BC067074	T	C	13: 113,366,105	Y115H	probably damaging	Het
C7	A	T	15: 5,046,924	V122E	probably benign	Het
Casp12	A	T	9: 5,352,844	Q152L	probably null	Het
Cdh16	T	A	8: 104,617,632	T92S	probably benign	Het
Chrd	G	C	16: 20,734,308	V162L	possibly damaging	Het
Cpne8	A	G	15: 90,501,405		probably benign	Het
Cyp2j7	T	A	4: 96,202,147	I347F	probably damaging	Het
Dach1	C	T	14: 98,168,748	G188R	probably damaging	Het
Dgkd	T	C	1: 87,917,952	S294P	probably benign	Het
Dnah8	A	G	17: 30,663,316	I621V	probably benign	Het
Dync2h1	A	G	9: 7,144,346		probably benign	Het
Echdc1	A	T	10: 29,322,421		probably benign	Het
Elovl3	T	A	19: 46,132,158	F30Y	probably damaging	Het
Fa2h	T	C	8: 111,393,514	Y80C	probably damaging	Het
Fam208b	A	C	13: 3,585,170		probably null	Het
Fgd3	C	T	13: 49,296,609	D55N	probably benign	Het
Fhod1	T	C	8: 105,331,655	E823G	possibly damaging	Het
Gapvd1	A	G	2: 34,699,913		probably benign	Het
Gm17067	A	T	7: 42,708,622	I152K	probably benign	Het
Gm1966	G	A	7: 106,603,246	L264F	probably benign	Het
Gm9833	A	T	3: 10,089,319	M383L	possibly damaging	Het
Kif27	A	G	13: 58,354,714	V50A	probably damaging	Het
Kpna2	T	C	11: 106,991,086	T305A	probably benign	Het
Krtap22-2	A	G	16: 89,010,519		probably benign	Het
Lrp2bp	T	A	8: 46,012,031	F62L	probably damaging	Het
Marf1	G	A	16: 14,152,265	H197Y	probably damaging	Het
Mob3b	A	G	4: 35,083,947	F81L	probably benign	Het
Mon2	C	T	10: 123,035,546	V389M	probably damaging	Het
Myh8	A	G	11: 67,298,525	K1176E	probably damaging	Het
Naf1	T	C	8: 66,889,055		probably benign	Het
Nckap1l	A	G	15: 103,475,636	T554A	probably benign	Het
Oog3	A	G	4: 144,158,071	Y432H	probably damaging	Het
Paxbp1	A	T	16: 91,036,036		probably benign	Het
Phf20	A	T	2: 156,267,194	K154*	probably null	Het
Plekhj1	T	C	10: 80,796,416	D74G	possibly damaging	Het
Plpp4	T	C	7: 129,323,424	C128R	probably damaging	Het
Rcan3	A	T	4: 135,418,378		probably null	Het
Sh3rf1	T	A	8: 61,374,138	M642K	probably benign	Het
Slc7a1	A	G	5: 148,334,583	V522A	probably benign	Het
Sorbs1	A	G	19: 40,314,738		probably benign	Het
Spry2	C	T	14: 105,893,297	V152M	probably benign	Het
Srgap2	A	G	1: 131,349,462	M349T	possibly damaging	Het
Stag3	A	G	5: 138,291,381	H271R	possibly damaging	Het
Stat4	T	C	1: 52,068,780	V136A	probably benign	Het
Stc2	A	T	11: 31,360,177	D286E	probably benign	Het
Stk31	T	C	6: 49,437,377	Y482H	probably damaging	Het
Ticrr	C	T	7: 79,693,792	P1135L	probably benign	Het
Tmem55b	C	T	14: 50,928,894	R213Q	probably damaging	Het
Trim27	A	T	13: 21,191,229	E310V	probably benign	Het
Uvrag	T	C	7: 98,991,981	K284R	probably benign	Het
Vmn1r78	A	C	7: 12,153,352	S297R	probably benign	Het
Xylt2	A	G	11: 94,669,640	S270P	probably damaging	Het
Zfhx3	T	C	8: 108,950,178	M2620T	probably benign	Het
Zkscan2	C	A	7: 123,499,996		probably benign	Het
Zwint	T	C	10: 72,657,198		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
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
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'- AGCTCCTTGCCCCAATTTATCTAATGG -3'
(R):5'- TGGCACCTGTGGCAGTAGTAGTAG -3'

Sequencing Primer
(F):5'- tgtttgtttgtttgtttgtttgtttg -3'
(R):5'- gtggcagtagtagtagcagaag -3'

Posted On

2013-05-09