Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01716:Cyp2b23'

104930

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Cyp2b23

Ensembl Gene

ENSMUSG00000040650

Gene Name

cytochrome P450, family 2, subfamily b, polypeptide 23

Synonyms

EG243881

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.077) question?

Stock #

IGL01716

Quality Score

Status

Chromosome

Chromosomal Location

26665227-26686437 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 26679490 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 183 (V183E)

Ref Sequence

ENSEMBL: ENSMUSP00000076578 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000077356]

AlphaFold

E9Q593

Predicted Effect

probably damaging
Transcript: ENSMUST00000077356
AA Change: V183E

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000076578
Gene: ENSMUSG00000040650
AA Change: V183E

Domain	Start	End	E-Value	Type
signal peptide	1	22	N/A	INTRINSIC
Pfam:p450	31	488	2.9e-148	PFAM

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Alms1	G	A	6: 85,628,094	R1773Q	probably benign	Het
Apba2	T	C	7: 64,745,826		probably benign	Het
Asap2	A	G	12: 21,254,306	D741G	possibly damaging	Het
Cfap65	T	C	1: 74,927,194	T325A	probably benign	Het
Cyp4f14	T	A	17: 32,905,496		probably benign	Het
Dip2b	A	G	15: 100,209,636	T1176A	probably benign	Het
Dnah1	A	G	14: 31,263,378	I3852T	probably benign	Het
E430018J23Rik	A	G	7: 127,392,036	S260P	possibly damaging	Het
Exoc6	T	A	19: 37,682,964	S801T	probably damaging	Het
Fancd2os	T	C	6: 113,597,654	I130M	probably damaging	Het
Flywch1	A	G	17: 23,763,026	V68A	probably benign	Het
Kif24	T	C	4: 41,393,454	T1140A	probably benign	Het
Limk2	C	T	11: 3,358,990		probably null	Het
Mag	C	T	7: 30,900,387	V576I	probably benign	Het
Mei4	C	T	9: 81,890,182	A16V	probably damaging	Het
Ncoa7	A	G	10: 30,662,334	I685T	probably damaging	Het
Nfxl1	A	T	5: 72,540,934	V256E	probably damaging	Het
Olfr1015	A	T	2: 85,786,143	I211F	probably damaging	Het
Olfr352	T	A	2: 36,869,667	F34I	probably benign	Het
Olfr403	C	T	11: 74,196,381	R293W	probably benign	Het
Pcdhb2	T	C	18: 37,296,738	V588A	probably damaging	Het
Pcdhb5	T	G	18: 37,321,022	S152A	probably benign	Het
Pcdhb9	T	A	18: 37,403,175	S741T	probably damaging	Het
Plekha4	C	A	7: 45,534,343	S66R	probably damaging	Het
Prex2	A	G	1: 11,266,054	N1492S	probably benign	Het
Rbfox3	T	C	11: 118,513,289	H28R	possibly damaging	Het
Reep2	C	T	18: 34,846,249	T209I	probably benign	Het
Rptn	A	G	3: 93,396,710	H450R	possibly damaging	Het
Spock3	A	G	8: 63,355,350	D427G	unknown	Het
Tnfrsf1b	C	T	4: 145,215,923	C430Y	probably damaging	Het
Ttn	T	A	2: 76,730,402	L29218F	probably damaging	Het
Ttn	A	T	2: 76,730,404	L29218I	probably damaging	Het
Tubgcp3	T	C	8: 12,641,094		probably benign	Het
Upp2	A	C	2: 58,790,046	T295P	probably damaging	Het
Xpo7	A	G	14: 70,685,555	V528A	probably damaging	Het
Zc3h7a	A	G	16: 11,145,716	C714R	probably damaging	Het
Zpbp	A	T	11: 11,404,052	S295T	probably benign	Het

Other mutations in Cyp2b23

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01879:Cyp2b23	APN	7	26672854	missense	probably benign	0.04
IGL02207:Cyp2b23	APN	7	26681755	missense	probably damaging	1.00
IGL03047:Cyp2b23	APN	7	26681467	splice site	probably benign
R0117:Cyp2b23	UTSW	7	26673114	missense	probably benign	0.25
R0265:Cyp2b23	UTSW	7	26672879	splice site	probably benign
R1457:Cyp2b23	UTSW	7	26673149	missense	probably damaging	1.00
R1605:Cyp2b23	UTSW	7	26686418	missense	probably benign	0.02
R1639:Cyp2b23	UTSW	7	26686417	missense	possibly damaging	0.77
R1741:Cyp2b23	UTSW	7	26673077	missense	possibly damaging	0.94
R2042:Cyp2b23	UTSW	7	26666108	missense	probably damaging	1.00
R3911:Cyp2b23	UTSW	7	26681417	missense	probably benign	0.02
R4078:Cyp2b23	UTSW	7	26673092	missense	probably damaging	1.00
R4279:Cyp2b23	UTSW	7	26666027	missense	possibly damaging	0.89
R4668:Cyp2b23	UTSW	7	26672734	missense	probably damaging	1.00
R5419:Cyp2b23	UTSW	7	26681423	nonsense	probably null
R5516:Cyp2b23	UTSW	7	26673057	nonsense	probably null
R5723:Cyp2b23	UTSW	7	26681396	missense	probably benign	0.41
R5873:Cyp2b23	UTSW	7	26675006	missense	probably benign	0.02
R6346:Cyp2b23	UTSW	7	26681725	missense	probably damaging	0.98
R6977:Cyp2b23	UTSW	7	26681320	missense	possibly damaging	0.87
R7131:Cyp2b23	UTSW	7	26681413	missense	probably benign	0.25
R7181:Cyp2b23	UTSW	7	26674403	missense	probably damaging	1.00
R7715:Cyp2b23	UTSW	7	26681695	missense	probably benign
R7877:Cyp2b23	UTSW	7	26686426	missense	probably damaging	0.97
R7880:Cyp2b23	UTSW	7	26673134	missense	probably damaging	1.00
R8004:Cyp2b23	UTSW	7	26679466	missense	probably benign
R8072:Cyp2b23	UTSW	7	26666006	missense	probably damaging	1.00
R8083:Cyp2b23	UTSW	7	26686403	missense	possibly damaging	0.62
R8968:Cyp2b23	UTSW	7	26679538	missense	probably damaging	0.99
R9129:Cyp2b23	UTSW	7	26681764	splice site	probably benign
R9437:Cyp2b23	UTSW	7	26672774	missense	possibly damaging	0.68
R9794:Cyp2b23	UTSW	7	26681696	missense	probably benign	0.14
Z1088:Cyp2b23	UTSW	7	26681411	missense	probably benign	0.06

Posted On

2014-01-21