Mutagenetix > Incidental Mutation

Incidental Mutation 'R3930:Cyp4a10'

308414

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

040917-MU

Accession Numbers

Essential gene?

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

Stock #

R3930 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

115518264-115533649 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 115524783 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Leucine at position 221 (V221L)

Ref Sequence

ENSEMBL: ENSMUSP00000092486 (fasta)

Gene Model

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

AlphaFold

O88833

Predicted Effect

probably benign
Transcript: ENSMUST00000058785
AA Change: V231L

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000061126
Gene: ENSMUSG00000066072
AA Change: V231L

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
AA Change: V221L

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000092486
Gene: ENSMUSG00000066072
AA Change: V221L

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

0.0898

Coding Region Coverage

1x: 99.4%
3x: 98.6%
10x: 97.1%
20x: 94.2%

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933416C03Rik	G	T	10: 116,112,635	Q329K	possibly damaging	Het
Bpifb1	A	G	2: 154,215,322	N400S	possibly damaging	Het
Cep250	G	A	2: 155,992,632	R2159K	probably damaging	Het
Crhr1	T	A	11: 104,153,551	S22T	probably benign	Het
D1Pas1	G	T	1: 186,968,280	W135C	probably damaging	Het
Dcbld2	T	C	16: 58,465,338	L620P	probably damaging	Het
Dnah17	C	T	11: 118,080,849		probably benign	Het
Dnm3	T	C	1: 162,084,130	D66G	probably damaging	Het
Fzd10	G	A	5: 128,602,412	V399M	probably damaging	Het
Gm10801	T	A	2: 98,664,016	I146N	possibly damaging	Het
Gm20767	G	A	13: 120,154,832	C69Y	probably damaging	Het
Gm436	C	T	4: 144,670,128	E345K	probably damaging	Het
Gm525	T	A	11: 89,075,004		probably null	Het
Gpr37l1	T	C	1: 135,161,362	I322V	probably benign	Het
Grid2ip	T	G	5: 143,386,039	S679R	probably damaging	Het
Gyg	A	T	3: 20,155,025	S15T	probably benign	Het
Hace1	G	A	10: 45,711,508	C901Y	probably benign	Het
Hjurp	GT	GTT	1: 88,266,524		probably null	Het
Hp1bp3	C	T	4: 138,221,707	A27V	probably benign	Het
Hsf5	A	G	11: 87,631,682	Y367C	probably damaging	Het
Igf2r	T	C	17: 12,705,829	I1034V	probably benign	Het
Itpr1	A	G	6: 108,394,841	T1159A	probably benign	Het
Kirrel	C	T	3: 87,089,151	M380I	probably null	Het
Lrrc14	T	C	15: 76,713,565	V165A	probably benign	Het
Lrrc45	C	T	11: 120,718,677	A422V	probably benign	Het
Lrrk2	T	A	15: 91,767,461		probably null	Het
Map3k4	T	C	17: 12,235,993	H1370R	possibly damaging	Het
Mpo	A	G	11: 87,801,040	Y433C	probably damaging	Het
Nfkbil1	G	T	17: 35,220,956	Q194K	probably benign	Het
Nin	C	T	12: 70,078,242	G102E	probably damaging	Het
Nmt1	T	C	11: 103,052,233	V138A	probably benign	Het
Olfr1215	A	G	2: 89,002,033	F85S	probably benign	Het
Olfr430	T	A	1: 174,069,581	F94L	probably damaging	Het
Olfr432	A	T	1: 174,050,510	I46F	probably damaging	Het
Olfr629	A	C	7: 103,740,587	Y218D	probably damaging	Het
Optc	T	A	1: 133,901,182	R176*	probably null	Het
Oxct1	T	A	15: 4,037,119	N72K	possibly damaging	Het
Plxna2	G	A	1: 194,794,910	A1243T	probably benign	Het
Rin1	G	T	19: 5,052,974	L430F	probably benign	Het
Ros1	A	T	10: 52,194,848	S37T	possibly damaging	Het
Rrp36	G	T	17: 46,672,806	Q27K	probably damaging	Het
Sez6	T	C	11: 77,976,882	I875T	probably damaging	Het
Sfrp5	T	G	19: 42,201,818	Y65S	probably damaging	Het
Slc25a54	T	A	3: 109,116,504	L472I	probably benign	Het
Slc35d3	T	C	10: 19,848,859	E417G	probably damaging	Het
Sumf2	A	G	5: 129,849,979	D52G	probably benign	Het
Sympk	A	G	7: 19,047,522	N801S	possibly damaging	Het
Tmem38b	T	C	4: 53,854,398	F210S	probably damaging	Het
Tnks	T	A	8: 34,940,812	H254L	probably damaging	Het
Trappc10	A	T	10: 78,210,403	V451E	probably benign	Het
Trim43a	A	T	9: 88,583,078	I153F	probably benign	Het
Tulp1	T	C	17: 28,353,709	N213S	probably damaging	Het
Ubr1	T	C	2: 120,916,470	D830G	probably benign	Het
Uqcc3	C	T	19: 8,880,705		probably null	Het
Vmn2r26	T	A	6: 124,025,979	M116K	probably benign	Het
Zscan12	A	G	13: 21,368,630	Q208R	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
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'- GATGCCTAGACACTCATGCC -3'
(R):5'- TCTGGATGTGCCTCAGAAATCATC -3'

Sequencing Primer
(F):5'- AGACACTCATGCCACCTTTTACTG -3'
(R):5'- TGTGCCTCAGAAATCATCAATAATCC -3'

Posted On

2015-04-17