Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01134:Cyp2b13'

51627

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Cyp2b13

Ensembl Gene

ENSMUSG00000040583

Gene Name

cytochrome P450, family 2, subfamily b, polypeptide 13

Synonyms

phenobarbital inducible, type c

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01134

Quality Score

Status

Chromosome

Chromosomal Location

26061497-26096197 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 26081700 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 179 (I179N)

Ref Sequence

ENSEMBL: ENSMUSP00000005669 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000005669]

AlphaFold

A6H6J2

Predicted Effect

probably damaging
Transcript: ENSMUST00000005669
AA Change: I179N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000005669
Gene: ENSMUSG00000040583
AA Change: I179N

Domain	Start	End	E-Value	Type
signal peptide	1	24	N/A	INTRINSIC
Pfam:p450	31	488	9.8e-150	PFAM

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110038F14Rik	G	A	15: 76,950,275	V124I	probably damaging	Het
Acaca	T	G	11: 84,251,279	H637Q	probably benign	Het
Aen	G	A	7: 78,907,302	M299I	probably damaging	Het
Akap6	C	A	12: 52,937,217	A848E	probably damaging	Het
Cxxc4	A	G	3: 134,240,659	I334V	probably null	Het
Cyp2d40	C	A	15: 82,760,901	A183S	unknown	Het
Cyp2g1	A	G	7: 26,809,831	N110S	probably benign	Het
F5	A	T	1: 164,191,979	R674S	possibly damaging	Het
Fnip2	G	T	3: 79,512,503	Y155*	probably null	Het
Fut9	G	T	4: 25,620,446	Q123K	probably benign	Het
Gda	A	G	19: 21,417,065	S143P	probably damaging	Het
Gpr162	T	C	6: 124,858,857		probably null	Het
Hsf2bp	A	G	17: 31,987,404	L251S	probably damaging	Het
Hsh2d	A	T	8: 72,193,531	D24V	probably damaging	Het
Htr1f	T	A	16: 64,926,138	T264S	probably benign	Het
Med12l	G	A	3: 59,042,275	E151K	possibly damaging	Het
Mgat3	C	A	15: 80,212,176	N401K	probably benign	Het
Mmp27	T	G	9: 7,573,297	M130R	probably benign	Het
Mroh2b	T	A	15: 4,915,152	S412T	probably benign	Het
Mrps9	A	G	1: 42,903,397	I338M	probably damaging	Het
Mtmr4	C	T	11: 87,604,067	T395M	probably damaging	Het
Nlrp9b	A	G	7: 20,023,187	I116M	probably benign	Het
Nqo1	T	C	8: 107,388,955	D230G	probably benign	Het
Pcnx2	C	T	8: 125,863,150	V795I	probably benign	Het
Pde8a	G	A	7: 81,319,078	R449Q	possibly damaging	Het
Scn9a	A	G	2: 66,504,968	Y1226H	probably damaging	Het
Sema3e	A	G	5: 14,252,770	R770G	probably damaging	Het
Smr2	T	C	5: 88,108,519	S19P	probably damaging	Het
Trank1	T	C	9: 111,391,781	S2529P	probably benign	Het
Uspl1	T	A	5: 149,204,293	F367L	probably damaging	Het
Vps41	A	G	13: 18,866,150	S838G	probably benign	Het
Ythdf2	A	T	4: 132,205,478	F124I	probably damaging	Het

Other mutations in Cyp2b13

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00980:Cyp2b13	APN	7	26081727	missense	probably benign	0.26
IGL02386:Cyp2b13	APN	7	26086013	missense	probably damaging	1.00
IGL02531:Cyp2b13	APN	7	26061605	missense	possibly damaging	0.55
IGL02960:Cyp2b13	APN	7	26061676	missense	probably benign	0.33
R0018:Cyp2b13	UTSW	7	26085950	missense	probably benign	0.30
R0018:Cyp2b13	UTSW	7	26085950	missense	probably benign	0.30
R0103:Cyp2b13	UTSW	7	26088710	missense	probably damaging	1.00
R0121:Cyp2b13	UTSW	7	26086585	missense	probably benign
R0392:Cyp2b13	UTSW	7	26085883	missense	probably benign	0.01
R0540:Cyp2b13	UTSW	7	26081711	missense	probably benign	0.07
R1887:Cyp2b13	UTSW	7	26088650	missense	probably damaging	1.00
R2416:Cyp2b13	UTSW	7	26095821	makesense	probably null
R2879:Cyp2b13	UTSW	7	26086031	critical splice donor site	probably null
R4654:Cyp2b13	UTSW	7	26061647	missense	probably damaging	1.00
R4735:Cyp2b13	UTSW	7	26088295	missense	probably benign
R4969:Cyp2b13	UTSW	7	26080988	missense	probably damaging	0.98
R5174:Cyp2b13	UTSW	7	26088693	missense	possibly damaging	0.68
R6243:Cyp2b13	UTSW	7	26061619	missense	probably damaging	1.00
R6616:Cyp2b13	UTSW	7	26085881	missense	probably benign	0.04
R6647:Cyp2b13	UTSW	7	26085899	missense	possibly damaging	0.52
R6766:Cyp2b13	UTSW	7	26081811	critical splice donor site	probably null
R6844:Cyp2b13	UTSW	7	26081697	missense	probably damaging	1.00
R7431:Cyp2b13	UTSW	7	26061551	missense	probably damaging	0.96
R7593:Cyp2b13	UTSW	7	26080991	missense	possibly damaging	0.64
R7719:Cyp2b13	UTSW	7	26095670	missense	probably damaging	1.00
R7857:Cyp2b13	UTSW	7	26088728	missense	possibly damaging	0.94
R8406:Cyp2b13	UTSW	7	26081798	missense	probably benign	0.01
R9418:Cyp2b13	UTSW	7	26061685	missense	probably benign	0.36
R9557:Cyp2b13	UTSW	7	26080698	missense	probably benign	0.05

Posted On

2013-06-21