Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01301:Cyp4a10'

73223

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Cyp4a10

Ensembl Gene

ENSMUSG00000066072

Gene Name

cytochrome P450, family 4, subfamily a, polypeptide 10

Synonyms

RP1, D4Rp1, Cyp4a

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.060) question?

Stock #

IGL01301

Quality Score

Status

Chromosome

Chromosomal Location

115518264-115533649 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 115518455 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 45 (L45P)

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: L45P

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

SMART Domains

Protein: ENSMUSP00000061126
Gene: ENSMUSG00000066072
AA Change: L45P

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: L45P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000092486
Gene: ENSMUSG00000066072
AA Change: L45P

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

Coding Region Coverage

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: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1600012H06Rik	C	T	17: 14,943,919		probably null	Het
Acacb	A	T	5: 114,246,498	I2238L	probably benign	Het
Aldh1l2	T	C	10: 83,522,846	Y95C	probably damaging	Het
Asxl2	A	G	12: 3,501,425	T1056A	probably damaging	Het
B4galnt1	A	G	10: 127,169,779	T250A	possibly damaging	Het
Cela3b	A	T	4: 137,423,843		probably null	Het
Chst3	T	C	10: 60,185,832	T398A	probably damaging	Het
Cngb3	A	G	4: 19,425,625	T478A	probably damaging	Het
Defb21	A	G	2: 152,574,751	E49G	possibly damaging	Het
Dnajc1	T	C	2: 18,308,834	T159A	probably damaging	Het
Dnmbp	A	G	19: 43,902,354	S325P	probably benign	Het
Fam91a1	T	C	15: 58,442,871	F534L	probably damaging	Het
Fermt2	T	C	14: 45,464,863	E488G	probably damaging	Het
Filip1	T	C	9: 79,819,180	D719G	possibly damaging	Het
Gad1-ps	A	G	10: 99,445,151		noncoding transcript	Het
Glra3	C	A	8: 55,940,962	A36E	probably benign	Het
Gm9884	T	A	1: 25,830,648		probably benign	Het
Hectd2	T	C	19: 36,569,370		probably benign	Het
Hnrnpm	C	T	17: 33,669,168		probably null	Het
Lrrk2	T	A	15: 91,767,339	Y1733N	probably damaging	Het
Mindy1	T	C	3: 95,288,390	L148P	probably damaging	Het
Mkrn2	C	A	6: 115,611,789	Y164*	probably null	Het
Msra	T	C	14: 64,210,435	Y135C	probably damaging	Het
Ndst3	C	T	3: 123,548,916	A749T	probably damaging	Het
Ngdn	G	T	14: 55,017,114	A41S	probably benign	Het
Nlrp12	A	T	7: 3,240,092	S597T	probably damaging	Het
Olfr1451	A	T	19: 12,999,417	I144F	probably damaging	Het
Pabpc6	A	G	17: 9,667,970	S551P	probably benign	Het
Plekhg5	C	T	4: 152,112,553	A752V	probably benign	Het
Prpf4b	T	C	13: 34,884,291	S368P	probably benign	Het
Pus7	A	G	5: 23,746,424		probably null	Het
Rad23b	T	C	4: 55,366,774		probably benign	Het
Rgs13	T	C	1: 144,171,414		probably benign	Het
Sfpq	T	C	4: 127,026,760		probably benign	Het
Slc9a9	T	A	9: 95,055,459	S455T	probably benign	Het
Slco1a1	A	G	6: 141,932,530		probably benign	Het
Tmem26	A	T	10: 68,778,606	N284Y	probably damaging	Het
Tmem87a	T	C	2: 120,380,769	I232V	probably benign	Het
Trpm2	A	G	10: 77,923,984	L1106P	probably damaging	Het
Vmn1r18	T	C	6: 57,389,667		probably benign	Het
Zfp213	G	T	17: 23,561,417	A43D	probably benign	Het
Zfp365	A	G	10: 67,909,354	V198A	probably damaging	Het
Zfp395	T	A	14: 65,394,751		probably null	Het
Zfp618	G	A	4: 63,132,826	V615M	probably 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
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
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

Posted On

2013-10-07