Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03143:Cyp4a12a'

410747

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Cyp4a12a

Ensembl Gene

ENSMUSG00000066071

Gene Name

cytochrome P450, family 4, subfamily a, polypeptide 12a

Synonyms

Cyp4a12

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.083) question?

Stock #

IGL03143

Quality Score

Status

Chromosome

Chromosomal Location

115156243-115190012 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 115159200 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 157 (T157A)

Ref Sequence

ENSEMBL: ENSMUSP00000081370 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000084343]

AlphaFold

Q91WL5

Predicted Effect

probably benign
Transcript: ENSMUST00000084343
AA Change: T157A

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

SMART Domains

Protein: ENSMUSP00000081370
Gene: ENSMUSG00000066071
AA Change: T157A

Domain	Start	End	E-Value	Type
low complexity region	18	39	N/A	INTRINSIC
Pfam:p450	51	503	1e-131	PFAM

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ackr2	T	G	9: 121,738,333 (GRCm39)	L236R	probably damaging	Het
Agbl1	C	T	7: 76,069,793 (GRCm39)	Q442*	probably null	Het
Ahrr	G	A	13: 74,405,614 (GRCm39)	Q108*	probably null	Het
Ankrd23	T	C	1: 36,570,726 (GRCm39)		probably benign	Het
Art5	A	G	7: 101,747,104 (GRCm39)	I225T	probably damaging	Het
Asxl3	T	C	18: 22,656,031 (GRCm39)	V1347A	probably benign	Het
Birc6	A	G	17: 74,905,994 (GRCm39)	M1326V	possibly damaging	Het
Bpifb6	A	C	2: 153,744,655 (GRCm39)	N32T	probably damaging	Het
Brip1	T	A	11: 85,952,653 (GRCm39)	T1043S	possibly damaging	Het
Cbx5	A	T	15: 103,121,532 (GRCm39)	V35E	probably damaging	Het
Ccdc175	T	A	12: 72,182,832 (GRCm39)	M396L	probably benign	Het
Ceacam3	G	T	7: 16,892,045 (GRCm39)	E263*	probably null	Het
Dennd11	A	T	6: 40,399,828 (GRCm39)		probably benign	Het
Derl3	T	C	10: 75,730,324 (GRCm39)	V129A	possibly damaging	Het
Dnajb1	T	C	8: 84,335,103 (GRCm39)	I48T	probably damaging	Het
Dop1b	G	A	16: 93,556,543 (GRCm39)	E349K	probably benign	Het
Fkbp10	A	T	11: 100,313,580 (GRCm39)	I285F	probably benign	Het
Frrs1	A	T	3: 116,692,836 (GRCm39)	T37S	probably damaging	Het
Gata2	A	G	6: 88,181,677 (GRCm39)	Y377C	probably damaging	Het
Gm9789	T	A	16: 88,954,883 (GRCm39)		probably benign	Het
Itpkb	T	A	1: 180,160,933 (GRCm39)	V353D	probably benign	Het
Kcng4	T	C	8: 120,352,509 (GRCm39)	E467G	probably damaging	Het
Kdm3a	A	T	6: 71,573,845 (GRCm39)	I906N	probably damaging	Het
Lama1	G	A	17: 68,111,531 (GRCm39)	G2261R	probably damaging	Het
Lamc1	A	T	1: 153,208,020 (GRCm39)	L89Q	probably benign	Het
Lef1	G	T	3: 130,993,965 (GRCm39)	E314*	probably null	Het
Lpin3	T	C	2: 160,745,518 (GRCm39)		probably benign	Het
Mrtfb	A	G	16: 13,218,676 (GRCm39)	N452D	possibly damaging	Het
Naaladl1	C	T	19: 6,164,896 (GRCm39)	T628I	possibly damaging	Het
Nell1	C	T	7: 49,929,281 (GRCm39)	Q259*	probably null	Het
Neu2	G	T	1: 87,524,698 (GRCm39)	E228*	probably null	Het
Or5b119	A	T	19: 13,456,835 (GRCm39)	H242Q	probably damaging	Het
Or5k15	A	G	16: 58,709,824 (GRCm39)	F253S	probably damaging	Het
Or8g21	T	G	9: 38,906,732 (GRCm39)		probably benign	Het
Or8k20	T	C	2: 86,106,580 (GRCm39)	N84D	probably benign	Het
Osbpl6	T	A	2: 76,378,716 (GRCm39)	D124E	probably damaging	Het
Palm	T	C	10: 79,652,617 (GRCm39)		probably benign	Het
Parp8	C	A	13: 117,047,497 (GRCm39)		probably benign	Het
Pax7	A	G	4: 139,556,798 (GRCm39)		probably benign	Het
Pcnx3	G	A	19: 5,735,423 (GRCm39)	R468W	probably damaging	Het
Pds5b	T	A	5: 150,702,722 (GRCm39)	V818D	probably damaging	Het
Piezo2	C	T	18: 63,241,147 (GRCm39)	V694I	probably damaging	Het
Plk1	A	G	7: 121,760,877 (GRCm39)		probably benign	Het
Polb	T	C	8: 23,130,367 (GRCm39)		probably benign	Het
Rad54b	A	G	4: 11,599,755 (GRCm39)	T320A	probably damaging	Het
Reg3b	G	A	6: 78,349,183 (GRCm39)	W103*	probably null	Het
Slc17a3	T	G	13: 24,039,962 (GRCm39)		probably null	Het
Snrnp200	C	T	2: 127,071,962 (GRCm39)		probably benign	Het
Stox2	T	A	8: 47,646,839 (GRCm39)	H207L	possibly damaging	Het
Tbx15	A	C	3: 99,259,514 (GRCm39)	M462L	possibly damaging	Het
Tcirg1	G	A	19: 3,948,811 (GRCm39)	T458I	probably damaging	Het
Tnfrsf25	A	G	4: 152,201,384 (GRCm39)		probably benign	Het
Trank1	A	G	9: 111,195,155 (GRCm39)	K1060E	probably damaging	Het
Ttc16	T	C	2: 32,664,457 (GRCm39)	D3G	possibly damaging	Het
Vmn1r199	A	C	13: 22,567,299 (GRCm39)	N155H	probably damaging	Het
Vmn1r202	G	A	13: 22,685,640 (GRCm39)	T259I	probably benign	Het

Other mutations in Cyp4a12a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00931:Cyp4a12a	APN	4	115,159,153 (GRCm39)	missense	possibly damaging	0.87
IGL00948:Cyp4a12a	APN	4	115,159,159 (GRCm39)	missense	probably damaging	0.98
R0099:Cyp4a12a	UTSW	4	115,183,869 (GRCm39)	missense	probably damaging	1.00
R0371:Cyp4a12a	UTSW	4	115,183,880 (GRCm39)	missense	probably damaging	0.97
R1893:Cyp4a12a	UTSW	4	115,183,864 (GRCm39)	missense	probably benign	0.03
R2018:Cyp4a12a	UTSW	4	115,184,702 (GRCm39)	missense	probably damaging	1.00
R3423:Cyp4a12a	UTSW	4	115,184,471 (GRCm39)	missense	probably benign	0.37
R4445:Cyp4a12a	UTSW	4	115,183,980 (GRCm39)	critical splice donor site	probably null
R4586:Cyp4a12a	UTSW	4	115,184,509 (GRCm39)	missense	probably benign	0.01
R4765:Cyp4a12a	UTSW	4	115,183,388 (GRCm39)	missense	possibly damaging	0.95
R4823:Cyp4a12a	UTSW	4	115,184,610 (GRCm39)	critical splice acceptor site	probably null
R5131:Cyp4a12a	UTSW	4	115,185,017 (GRCm39)	missense	possibly damaging	0.60
R5841:Cyp4a12a	UTSW	4	115,183,899 (GRCm39)	missense	probably benign	0.03
R6017:Cyp4a12a	UTSW	4	115,183,476 (GRCm39)	nonsense	probably null
R6039:Cyp4a12a	UTSW	4	115,184,420 (GRCm39)	missense	probably damaging	1.00
R6039:Cyp4a12a	UTSW	4	115,184,420 (GRCm39)	missense	probably damaging	1.00
R6170:Cyp4a12a	UTSW	4	115,184,643 (GRCm39)	missense	possibly damaging	0.60
R6883:Cyp4a12a	UTSW	4	115,159,221 (GRCm39)	missense	probably damaging	1.00
R7308:Cyp4a12a	UTSW	4	115,184,955 (GRCm39)	missense	possibly damaging	0.60
R7327:Cyp4a12a	UTSW	4	115,184,756 (GRCm39)	missense	probably damaging	1.00
R7452:Cyp4a12a	UTSW	4	115,184,795 (GRCm39)	missense	probably damaging	1.00
R7595:Cyp4a12a	UTSW	4	115,189,089 (GRCm39)	missense	probably damaging	1.00
R7638:Cyp4a12a	UTSW	4	115,184,670 (GRCm39)	missense	possibly damaging	0.93
R8040:Cyp4a12a	UTSW	4	115,183,412 (GRCm39)	missense	probably benign	0.12
R8303:Cyp4a12a	UTSW	4	115,186,130 (GRCm39)	missense	probably damaging	1.00
R8491:Cyp4a12a	UTSW	4	115,158,650 (GRCm39)	splice site	probably null
R8954:Cyp4a12a	UTSW	4	115,185,935 (GRCm39)	nonsense	probably null
R9031:Cyp4a12a	UTSW	4	115,189,199 (GRCm39)	makesense	probably null
R9356:Cyp4a12a	UTSW	4	115,185,915 (GRCm39)	missense	probably benign
R9674:Cyp4a12a	UTSW	4	115,186,156 (GRCm39)	missense	probably benign	0.00
X0024:Cyp4a12a	UTSW	4	115,185,009 (GRCm39)	missense	probably benign	0.39
Z1176:Cyp4a12a	UTSW	4	115,186,200 (GRCm39)	critical splice donor site	probably null

Posted On

2016-08-02