Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01802:Cyp4a14'

155550

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 #

IGL01802

Quality Score

Status

Chromosome

Chromosomal Location

115486200-115496142 bp(-) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to A at 115494937 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Stop codon at position 93 (R93*)

Ref Sequence

ENSEMBL: ENSMUSP00000030487 (fasta)

Gene Model

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

AlphaFold

O35728

Predicted Effect

probably null
Transcript: ENSMUST00000030487
AA Change: R93*

SMART Domains

Protein: ENSMUSP00000030487
Gene: ENSMUSG00000028715
AA Change: R93*

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: 27 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	A	C	11: 9,292,438	M1434L	probably benign	Het
Acta2	T	A	19: 34,243,436	I291F	possibly damaging	Het
Arhgap10	A	G	8: 77,420,085	I230T	probably damaging	Het
Copb1	A	C	7: 114,226,776	S658A	probably benign	Het
Crtc3	A	T	7: 80,604,368	C244*	probably null	Het
Dclk2	A	G	3: 86,799,027	F586L	probably damaging	Het
Dmtn	G	T	14: 70,604,819	F358L	probably damaging	Het
Enam	A	T	5: 88,503,674	H1014L	possibly damaging	Het
Ercc6	A	G	14: 32,562,574	T765A	probably damaging	Het
Gtf3c4	T	C	2: 28,834,080	K547E	probably damaging	Het
Hdc	G	T	2: 126,603,894	A230D	probably benign	Het
Hipk3	A	T	2: 104,471,853		probably benign	Het
Kidins220	A	G	12: 24,995,000	I264M	probably damaging	Het
Lrp1b	C	T	2: 41,511,482	V387I	probably benign	Het
Mmp8	T	G	9: 7,567,440	F434V	probably benign	Het
Nr3c2	C	A	8: 76,908,595	Y108*	probably null	Het
Olfr1475	T	C	19: 13,479,365	M278V	probably benign	Het
Olfr729	T	G	14: 50,148,716	S53R	probably benign	Het
Pnpt1	A	T	11: 29,154,306	D560V	probably damaging	Het
Rbbp8nl	T	C	2: 180,279,695	S299G	probably benign	Het
Rnf165	A	T	18: 77,462,914	L106Q	probably damaging	Het
Slc9a4	A	T	1: 40,607,798	N484I	probably damaging	Het
Sncaip	C	T	18: 52,869,037	S210F	probably damaging	Het
Tiam1	G	T	16: 89,898,372	Q66K	possibly damaging	Het
Ttc39a	C	A	4: 109,433,084	Y330*	probably null	Het
Ush2a	T	G	1: 188,436,957	D1098E	probably damaging	Het
Vmn2r103	A	G	17: 19,799,208	E518G	probably benign	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
IGL02309:Cyp4a14	APN	4	115491632	missense	probably damaging	0.99
IGL02330:Cyp4a14	APN	4	115495027	splice site	probably benign
IGL03302:Cyp4a14	APN	4	115491378	missense	probably benign	0.00
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

2014-02-04