Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02230:Cyp4a12b'

285662

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: 0.063) question?

Stock #

IGL02230

Quality Score

Status

Chromosome

Chromosomal Location

115411624-115439034 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 115433996 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 374 (I374F)

Ref Sequence

ENSEMBL: ENSMUSP00000092487 (fasta)

Gene Model

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

AlphaFold

A2A974

Predicted Effect

probably damaging
Transcript: ENSMUST00000094887
AA Change: I374F

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

SMART Domains

Protein: ENSMUSP00000092487
Gene: ENSMUSG00000078597
AA Change: I374F

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: 33 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actn1	T	A	12: 80,171,830	T727S	probably benign	Het
Ecel1	T	C	1: 87,152,194	N399S	probably damaging	Het
Fpr-rs3	T	C	17: 20,623,928	E317G	probably damaging	Het
Gm10030	T	A	9: 111,006,390		noncoding transcript	Het
Gm4884	A	T	7: 41,043,405	Q266L	probably damaging	Het
Gpr45	C	A	1: 43,032,656	A153E	probably damaging	Het
Hc	A	G	2: 35,013,670	F991L	probably benign	Het
Hif1a	T	G	12: 73,932,450	D249E	probably damaging	Het
Hsd17b12	A	G	2: 94,045,398	L194P	possibly damaging	Het
Hspg2	T	C	4: 137,518,645	S947P	probably damaging	Het
Kng1	G	T	16: 23,060,494		probably null	Het
Lpp	C	T	16: 24,762,145	R204W	probably damaging	Het
Lrrc4	T	A	6: 28,830,880	K245N	probably damaging	Het
Mdga2	G	A	12: 66,655,423	R335*	probably null	Het
Naa16	A	T	14: 79,377,361		probably benign	Het
Ncbp1	C	A	4: 46,165,272	N528K	probably benign	Het
Olfr57	T	A	10: 79,035,042	M82K	probably damaging	Het
Olfr714	A	G	7: 107,074,493	I222V	probably damaging	Het
Pipox	A	G	11: 77,881,206	L364P	probably damaging	Het
R3hdm4	C	A	10: 79,912,091	A206S	probably damaging	Het
Rasgrf2	A	G	13: 91,988,026	I589T	probably damaging	Het
Ror2	C	T	13: 53,110,728	S764N	probably damaging	Het
Sdr16c5	T	C	4: 4,016,354	E24G	probably damaging	Het
Sec24a	T	C	11: 51,709,034	I815V	possibly damaging	Het
Serpina16	A	G	12: 103,675,302	Y55H	probably damaging	Het
Sirt2	C	T	7: 28,778,946	R83C	probably damaging	Het
Sntg1	A	T	1: 8,681,971		probably null	Het
Stmn1	A	G	4: 134,472,913	E99G	probably damaging	Het
Tas2r103	T	C	6: 133,037,056	I16V	possibly damaging	Het
Vit	A	G	17: 78,619,627	K334E	probably damaging	Het
Washc4	T	C	10: 83,581,369	I876T	probably benign	Het
Wrn	A	T	8: 33,317,563	V289D	probably damaging	Het
Zfp318	C	T	17: 46,396,810	R265*	probably null	Het

Other mutations in Cyp4a12b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00850:Cyp4a12b	APN	4	115438049	splice site	probably null
IGL01571:Cyp4a12b	APN	4	115438157	missense	probably benign	0.00
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
R9497:Cyp4a12b	UTSW	4	115414571	missense	probably benign	0.36
RF045:Cyp4a12b	UTSW	4	115432493	missense	probably benign	0.23

Posted On

2015-04-16