Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01571:Cyp4a12b'

93304

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Cyp4a12b

Ensembl Gene

ENSMUSG00000078597

Gene Name

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

Synonyms

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.067) question?

Stock #

IGL01571

Quality Score

Status

Chromosome

Chromosomal Location

115411624-115439034 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 115438157 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 487 (I487V)

Ref Sequence

ENSEMBL: ENSMUSP00000092487 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000094887]

AlphaFold

A2A974

Predicted Effect

probably benign
Transcript: ENSMUST00000094887
AA Change: I487V

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000092487
Gene: ENSMUSG00000078597
AA Change: I487V

Domain	Start	End	E-Value	Type
low complexity region	18	39	N/A	INTRINSIC
Pfam:p450	51	503	1.9e-132	PFAM

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
AB124611	T	A	9: 21,539,081		probably benign	Het
Cep164	T	C	9: 45,794,338	Q127R	possibly damaging	Het
Ces1f	T	A	8: 93,258,368	M444L	probably benign	Het
Chd5	T	A	4: 152,384,115		probably benign	Het
Cpd	T	A	11: 76,782,296	Y1341F	probably damaging	Het
Cryz	T	C	3: 154,621,743	I268T	probably damaging	Het
Csnk2a1	G	A	2: 152,275,406	R278H	probably damaging	Het
Dnajb5	T	C	4: 42,956,516		probably benign	Het
Dxo	A	T	17: 34,839,040	H214L	probably damaging	Het
Etfb	T	C	7: 43,452,959		probably null	Het
G6pc2	G	A	2: 69,222,967	V122I	probably damaging	Het
Gm5431	A	T	11: 48,894,713	D278E	probably benign	Het
Gstt2	C	T	10: 75,834,171		probably benign	Het
Hnf4g	A	C	3: 3,651,266		probably benign	Het
Ifi44	T	C	3: 151,745,537	D259G	probably damaging	Het
Klk1	T	C	7: 44,228,596	V92A	probably damaging	Het
Lypla1	T	C	1: 4,844,988	I222T	probably benign	Het
Nbeal2	T	C	9: 110,632,758	N1510D	possibly damaging	Het
Ndufaf7	A	G	17: 78,943,852	R229G	probably damaging	Het
Nphp4	G	A	4: 152,556,382	V1069M	probably benign	Het
Nsd2	A	G	5: 33,864,687	H528R	probably benign	Het
Olfr1298	C	A	2: 111,645,380	V206L	probably benign	Het
Olfr1355	A	G	10: 78,879,837	I222V	possibly damaging	Het
Olfr763	A	T	10: 129,011,827	I181F	probably damaging	Het
Pigh	A	C	12: 79,085,860		probably benign	Het
Prr14l	A	T	5: 32,828,806	M1115K	probably benign	Het
Psg21	T	C	7: 18,654,825	D114G	probably damaging	Het
Psmg2	G	A	18: 67,653,223	V218I	probably benign	Het
Pygb	T	C	2: 150,830,473	S831P	probably benign	Het
Ryr2	T	A	13: 11,721,761	D2260V	probably damaging	Het
Sgo2a	T	C	1: 58,017,974	S1106P	probably damaging	Het
Slc5a5	G	A	8: 70,891,332		probably benign	Het
Tekt4	A	G	17: 25,476,384	D397G	probably benign	Het
Trrap	T	A	5: 144,833,287		probably benign	Het
Upf2	T	C	2: 6,018,939		probably benign	Het
Usp17lb	A	T	7: 104,840,381	N445K	possibly damaging	Het
Vmn2r111	A	G	17: 22,571,392	V211A	probably damaging	Het
Vmn2r23	A	G	6: 123,704,407	I91M	probably damaging	Het
Vps13b	C	T	15: 35,877,489		probably benign	Het
Zc3hc1	G	A	6: 30,390,863	T47I	probably benign	Het

Other mutations in Cyp4a12b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00850:Cyp4a12b	APN	4	115438049	splice site	probably null
IGL02230:Cyp4a12b	APN	4	115433996	missense	probably damaging	1.00
IGL02720:Cyp4a12b	APN	4	115435171	splice site	probably benign
IGL03118:Cyp4a12b	APN	4	115432976	missense	possibly damaging	0.54
IGL03389:Cyp4a12b	APN	4	115433808	missense	possibly damaging	0.90
R0360:Cyp4a12b	UTSW	4	115432920	missense	probably benign	0.01
R0364:Cyp4a12b	UTSW	4	115432920	missense	probably benign	0.01
R0844:Cyp4a12b	UTSW	4	115432524	missense	possibly damaging	0.67
R1226:Cyp4a12b	UTSW	4	115432967	missense	possibly damaging	0.80
R1232:Cyp4a12b	UTSW	4	115432563	missense	possibly damaging	0.81
R1372:Cyp4a12b	UTSW	4	115432949	missense	probably benign	0.08
R1559:Cyp4a12b	UTSW	4	115433984	missense	probably damaging	0.98
R1782:Cyp4a12b	UTSW	4	115433981	missense	probably damaging	1.00
R1817:Cyp4a12b	UTSW	4	115414062	splice site	probably benign
R1941:Cyp4a12b	UTSW	4	115438059	missense	probably damaging	1.00
R1978:Cyp4a12b	UTSW	4	115438145	missense	probably benign	0.01
R2063:Cyp4a12b	UTSW	4	115433503	missense	possibly damaging	0.87
R2109:Cyp4a12b	UTSW	4	115432913	missense	probably damaging	0.97
R2911:Cyp4a12b	UTSW	4	115433526	nonsense	probably null
R3791:Cyp4a12b	UTSW	4	115434970	missense	probably benign	0.01
R3815:Cyp4a12b	UTSW	4	115432470	missense	probably damaging	0.98
R3816:Cyp4a12b	UTSW	4	115432470	missense	probably damaging	0.98
R3817:Cyp4a12b	UTSW	4	115432470	missense	probably damaging	0.98
R3818:Cyp4a12b	UTSW	4	115432470	missense	probably damaging	0.98
R4586:Cyp4a12b	UTSW	4	115432506	missense	probably damaging	1.00
R5004:Cyp4a12b	UTSW	4	115438113	missense	probably benign	0.39
R5105:Cyp4a12b	UTSW	4	115433761	missense	probably damaging	1.00
R5354:Cyp4a12b	UTSW	4	115433464	splice site	probably null
R5655:Cyp4a12b	UTSW	4	115433797	missense	probably damaging	1.00
R5814:Cyp4a12b	UTSW	4	115432497	missense	probably damaging	0.97
R5952:Cyp4a12b	UTSW	4	115414517	nonsense	probably null
R6004:Cyp4a12b	UTSW	4	115433467	missense	probably benign	0.35
R6059:Cyp4a12b	UTSW	4	115438104	missense	possibly damaging	0.94
R6261:Cyp4a12b	UTSW	4	115414543	nonsense	probably null
R7484:Cyp4a12b	UTSW	4	115432563	missense	possibly damaging	0.81
R7734:Cyp4a12b	UTSW	4	115411740	missense	possibly damaging	0.89
R8545:Cyp4a12b	UTSW	4	115433030	missense	probably benign	0.23
R9031:Cyp4a12b	UTSW	4	115433668	missense	probably benign	0.00
RF045:Cyp4a12b	UTSW	4	115432493	missense	probably benign	0.23

Posted On

2013-12-09