Mutagenetix > Incidental Mutation

Incidental Mutation 'R2911:Cyp4a12b'

261237

Institutional Source

Beutler Lab

Gene Symbol

Cyp4a12b

Ensembl Gene

ENSMUSG00000078597

Gene Name

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

Synonyms

MMRRC Submission

040498-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.063) question?

Stock #

R2911 (G1)

Quality Score

209

Status

Not validated

Chromosome

Chromosomal Location

115411624-115439034 bp(+) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 115433526 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Stop codon at position 282 (K282*)

Ref Sequence

ENSEMBL: ENSMUSP00000092487 (fasta)

Gene Model

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

AlphaFold

A2A974

Predicted Effect

probably null
Transcript: ENSMUST00000094887
AA Change: K282*

SMART Domains

Protein: ENSMUSP00000092487
Gene: ENSMUSG00000078597
AA Change: K282*

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

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 94.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2210407C18Rik	G	A	11: 58,608,426	Q189*	probably null	Het
Abcf3	A	G	16: 20,560,232	T645A	probably damaging	Het
Adam10	C	T	9: 70,718,723	S91L	probably damaging	Het
Ahnak	A	G	19: 9,011,654	D3434G	probably damaging	Het
Ankrd11	A	T	8: 122,908,798	D32E	probably damaging	Het
Cacna1b	A	T	2: 24,607,541		probably null	Het
Cd109	CATTTATTTATTTATTTATTTATTTATTTATTTAT	CATTTATTTATTTATTTATTTATTTATTTATTTATTTAT	9: 78,712,500		probably benign	Het
Cep104	T	A	4: 153,995,427		probably null	Het
Clstn2	A	G	9: 97,532,722	V373A	probably damaging	Het
Cyp2c65	T	G	19: 39,087,682	I359M	probably damaging	Het
Ddx1	C	T	12: 13,231,440		probably null	Het
Dnah7a	A	T	1: 53,427,824		probably null	Het
Dzip1l	T	C	9: 99,655,602	V419A	probably benign	Het
Epha3	A	C	16: 63,652,412	V370G	probably benign	Het
Fbxo38	T	C	18: 62,519,807	D523G	probably benign	Het
Fryl	T	C	5: 73,050,456	D2457G	probably damaging	Het
Gm379	A	C	X: 108,664,765	F43V	possibly damaging	Het
Grhl3	T	C	4: 135,559,146	I75V	probably benign	Het
Lcp2	G	A	11: 34,068,970		probably null	Het
Lipo3	T	A	19: 33,579,367	I220F	probably benign	Het
Lrp1b	T	C	2: 41,506,692	E340G	probably benign	Het
Mbtps1	A	G	8: 119,546,037	I123T	possibly damaging	Het
Ndc80	A	T	17: 71,500,376	S528R	probably benign	Het
Odf2l	A	C	3: 145,124,323	I19L	probably benign	Het
Olfr193	C	T	16: 59,110,181	R143H	probably benign	Het
Olfr873	A	G	9: 20,300,479	K94R	possibly damaging	Het
Olfr958	T	C	9: 39,550,821	I17V	possibly damaging	Het
Pigr	A	G	1: 130,849,533	D692G	probably damaging	Het
Reep2	T	C	18: 34,845,690		probably null	Het
Rin3	T	G	12: 102,373,584	S598A	probably benign	Het
Rreb1	A	T	13: 37,948,920	E1690D	probably benign	Het
Rubcnl	C	T	14: 75,040,808	T344I	probably benign	Het
Shcbp1l	C	A	1: 153,428,626	L144I	probably damaging	Het
Snx2	C	T	18: 53,199,874	P207S	probably damaging	Het
Sox17	A	T	1: 4,493,131	D92E	probably damaging	Het
Spata21	A	G	4: 141,103,082	M288V	possibly damaging	Het
Sra1	T	C	18: 36,676,185	D273G	possibly damaging	Het
Syt7	T	C	19: 10,443,435	I448T	probably benign	Het
Tac1	A	G	6: 7,559,097		probably null	Het
Tgs1	C	A	4: 3,585,616	N164K	probably benign	Het
Tmem72	T	A	6: 116,698,331	I67F	possibly damaging	Het
Ythdc1	T	C	5: 86,816,559	S88P	possibly damaging	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
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
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

Predicted Primers

PCR Primer
(F):5'- GTCAGGTATTCTGGCTTCTCAC -3'
(R):5'- TCAGCACGAAGGTCCTTATCAG -3'

Sequencing Primer
(F):5'- AGGTATTCTGGCTTCTCACATCTTAC -3'
(R):5'- GCACGAAGGTCCTTATCAGATAAGC -3'

Posted On

2015-01-23