Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03302:Cyp4a14'

416245

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Cyp4a14

Ensembl Gene

ENSMUSG00000028715

Gene Name

cytochrome P450, family 4, subfamily a, polypeptide 14

Synonyms

Accession Numbers

Essential gene?

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

Stock #

IGL03302

Quality Score

Status

Chromosome

Chromosomal Location

115486200-115496142 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 115491378 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 330 (I330V)

Ref Sequence

ENSEMBL: ENSMUSP00000030487 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030487]

AlphaFold

O35728

Predicted Effect

probably benign
Transcript: ENSMUST00000030487
AA Change: I330V

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000030487
Gene: ENSMUSG00000028715
AA Change: I330V

Domain	Start	End	E-Value	Type
transmembrane domain	15	32	N/A	INTRINSIC
Pfam:p450	51	503	5.4e-129	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000124412

Coding Region Coverage

Validation Efficiency

MGI Phenotype

PHENOTYPE: Male mice homozygous for disruption of this gene display high blood pressure. Blood pressure is elevated in females as well to levels comparable to normotensive males. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8b	T	A	11: 109,967,750	Y542F	possibly damaging	Het
Ankrd34b	A	T	13: 92,439,643	N461I	possibly damaging	Het
Ccl24	T	C	5: 135,570,878	K93E	probably benign	Het
Ccr9	T	A	9: 123,779,536	D94E	probably damaging	Het
Cd79a	G	A	7: 24,899,334	V103M	probably damaging	Het
Ces1e	A	G	8: 93,223,893		probably null	Het
Cul9	T	C	17: 46,526,640	E993G	probably damaging	Het
Cyp7a1	T	C	4: 6,273,801	D35G	probably benign	Het
Dmpk	C	A	7: 19,086,486		probably benign	Het
Gcnt1	G	T	19: 17,329,183	R393S	probably benign	Het
Lctl	C	T	9: 64,134,848		probably benign	Het
Mttp	A	T	3: 138,104,707	I664N	possibly damaging	Het
Myh1	C	T	11: 67,211,502	A873V	probably benign	Het
Nedd9	A	G	13: 41,338,854	V54A	probably damaging	Het
Olfr1306	A	T	2: 111,912,822	V36E	possibly damaging	Het
Olfr401	T	G	11: 74,121,633	C115G	possibly damaging	Het
Olfr449	G	T	6: 42,838,003	E41*	probably null	Het
Pak6	A	T	2: 118,693,303	E313V	probably benign	Het
Pla2g4a	A	G	1: 149,864,947	S402P	probably benign	Het
Polq	T	C	16: 37,071,772	M2012T	probably damaging	Het
Ppp1r12b	A	T	1: 134,838,050		probably benign	Het
Rbp3	A	G	14: 33,954,659	H188R	probably damaging	Het
Rps6ka2	C	A	17: 7,299,388	Q682K	possibly damaging	Het
Scgb2b7	A	T	7: 31,705,081	C65S	probably damaging	Het
Spag4	A	G	2: 156,068,420	Q322R	probably damaging	Het
Spef2	T	C	15: 9,676,380	T702A	probably benign	Het
Taf3	G	T	2: 9,952,131	F408L	probably damaging	Het
Tead2	T	G	7: 45,232,899	Y121D	possibly damaging	Het
Thegl	T	G	5: 77,054,576	S281R	probably benign	Het
Tmco5	A	T	2: 116,892,279	T294S	probably damaging	Het
Trim37	A	G	11: 87,147,001	E187G	possibly damaging	Het
Ubb	T	A	11: 62,552,417	L91Q	probably damaging	Het
Ugt2a3	G	A	5: 87,336,580	P195L	probably damaging	Het
Zan	T	C	5: 137,468,390	S402G	possibly damaging	Het
Zc3h7a	T	A	16: 11,141,710	H793L	probably damaging	Het
Zfhx4	C	T	3: 5,403,713	T2977I	possibly damaging	Het

Other mutations in Cyp4a14

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00473:Cyp4a14	APN	4	115489952	splice site	probably benign
IGL01539:Cyp4a14	APN	4	115487177	missense	possibly damaging	0.71
IGL01802:Cyp4a14	APN	4	115494937	nonsense	probably null
IGL02309:Cyp4a14	APN	4	115491632	missense	probably damaging	0.99
IGL02330:Cyp4a14	APN	4	115495027	splice site	probably benign
R1037:Cyp4a14	UTSW	4	115489996	missense	probably damaging	1.00
R1236:Cyp4a14	UTSW	4	115492170	missense	probably benign	0.01
R2132:Cyp4a14	UTSW	4	115491391	missense	probably damaging	1.00
R2133:Cyp4a14	UTSW	4	115491391	missense	probably damaging	1.00
R2870:Cyp4a14	UTSW	4	115487301	missense	probably damaging	1.00
R2870:Cyp4a14	UTSW	4	115487301	missense	probably damaging	1.00
R2871:Cyp4a14	UTSW	4	115487301	missense	probably damaging	1.00
R2871:Cyp4a14	UTSW	4	115487301	missense	probably damaging	1.00
R2872:Cyp4a14	UTSW	4	115487301	missense	probably damaging	1.00
R2872:Cyp4a14	UTSW	4	115487301	missense	probably damaging	1.00
R2873:Cyp4a14	UTSW	4	115487301	missense	probably damaging	1.00
R4015:Cyp4a14	UTSW	4	115491134	missense	probably damaging	1.00
R4925:Cyp4a14	UTSW	4	115495936	missense	possibly damaging	0.68
R5104:Cyp4a14	UTSW	4	115495929	missense	probably damaging	1.00
R5135:Cyp4a14	UTSW	4	115489960	critical splice donor site	probably null
R5150:Cyp4a14	UTSW	4	115493609	missense	probably damaging	1.00
R5930:Cyp4a14	UTSW	4	115491410	missense	probably damaging	1.00
R5997:Cyp4a14	UTSW	4	115496100	nonsense	probably null
R6269:Cyp4a14	UTSW	4	115491131	missense	possibly damaging	0.87
R6354:Cyp4a14	UTSW	4	115487244	missense	probably damaging	1.00
R6377:Cyp4a14	UTSW	4	115496083	missense	probably benign	0.01
R6534:Cyp4a14	UTSW	4	115489959	splice site	probably null
R6563:Cyp4a14	UTSW	4	115492086	missense	probably benign	0.23
R6751:Cyp4a14	UTSW	4	115491194	missense	probably damaging	0.99
R7039:Cyp4a14	UTSW	4	115491081	missense	probably benign	0.23
R7125:Cyp4a14	UTSW	4	115491161	missense	probably damaging	1.00
R7379:Cyp4a14	UTSW	4	115493710	splice site	probably null
R7544:Cyp4a14	UTSW	4	115491086	missense	probably damaging	0.98
R7591:Cyp4a14	UTSW	4	115489960	critical splice donor site	probably null
R7740:Cyp4a14	UTSW	4	115493609	missense	probably damaging	1.00
R7741:Cyp4a14	UTSW	4	115489959	splice site	probably null
R7753:Cyp4a14	UTSW	4	115493664	missense	probably damaging	1.00
R7789:Cyp4a14	UTSW	4	115494910	missense	probably benign	0.00
R8064:Cyp4a14	UTSW	4	115494958	missense	probably benign
R8311:Cyp4a14	UTSW	4	115491078	missense	probably damaging	1.00
R8458:Cyp4a14	UTSW	4	115495932	missense	probably damaging	1.00
R8868:Cyp4a14	UTSW	4	115491356	missense	probably damaging	1.00
R9039:Cyp4a14	UTSW	4	115487264	missense	probably damaging	0.97
R9632:Cyp4a14	UTSW	4	115492150	missense	probably benign	0.00
R9710:Cyp4a14	UTSW	4	115492150	missense	probably benign	0.00
Z1176:Cyp4a14	UTSW	4	115490017	missense	probably benign	0.01
Z1177:Cyp4a14	UTSW	4	115491453	missense	possibly damaging	0.88

Posted On

2016-08-02