Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02324:Cyp2d40'

288405

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Cyp2d40

Ensembl Gene

ENSMUSG00000068083

Gene Name

cytochrome P450, family 2, subfamily d, polypeptide 40

Synonyms

1300013D18Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.095) question?

Stock #

IGL02324

Quality Score

Status

Chromosome

Chromosomal Location

82644034-82648323 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

A to T at 82645149 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000060524 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000055721]

AlphaFold

Q6P8N9

Predicted Effect

probably benign
Transcript: ENSMUST00000055721

SMART Domains

Protein: ENSMUSP00000060524
Gene: ENSMUSG00000068083

Domain	Start	End	E-Value	Type
transmembrane domain	4	26	N/A	INTRINSIC
Pfam:p450	59	335	1.3e-94	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000230433

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
Adgrl4	T	A	3: 151,203,511 (GRCm39)	C124S	probably damaging	Het
Aldh1a7	T	C	19: 20,704,368 (GRCm39)	N42S	probably damaging	Het
Arhgef1	T	C	7: 24,623,240 (GRCm39)	L667P	probably damaging	Het
C1qb	C	A	4: 136,607,811 (GRCm39)	R184L	possibly damaging	Het
Cacna1s	A	G	1: 136,002,914 (GRCm39)		probably benign	Het
Cdk20	A	G	13: 64,585,734 (GRCm39)	E244G	probably benign	Het
Copg2	C	A	6: 30,840,469 (GRCm39)		probably null	Het
Cyp2j6	A	G	4: 96,414,170 (GRCm39)	I365T	probably damaging	Het
Dhx29	A	G	13: 113,064,342 (GRCm39)	K6E	probably damaging	Het
Dpp10	T	A	1: 123,295,531 (GRCm39)	T539S	probably benign	Het
Ehbp1	A	T	11: 22,046,048 (GRCm39)	I542K	probably damaging	Het
Fat1	A	G	8: 45,493,593 (GRCm39)	Y3913C	probably damaging	Het
Flt4	C	T	11: 49,536,822 (GRCm39)	T1264I	probably benign	Het
Fmnl1	A	G	11: 103,070,364 (GRCm39)	D51G	probably damaging	Het
Gm17093	A	G	14: 44,755,807 (GRCm39)	T25A	unknown	Het
Gpatch2	A	G	1: 186,957,936 (GRCm39)	E97G	probably damaging	Het
Hcn1	T	C	13: 118,039,422 (GRCm39)	L446P	unknown	Het
Hpse2	A	T	19: 42,920,038 (GRCm39)	L354I	probably damaging	Het
Hspa4	A	G	11: 53,190,885 (GRCm39)		probably null	Het
Krtap16-1	C	T	11: 99,877,129 (GRCm39)	V92M	probably damaging	Het
Med23	A	T	10: 24,773,239 (GRCm39)	Q281L	probably damaging	Het
Megf8	T	C	7: 25,039,873 (GRCm39)	S963P	probably benign	Het
Mical1	G	A	10: 41,362,660 (GRCm39)	E932K	possibly damaging	Het
Mycbp2	A	G	14: 103,479,643 (GRCm39)	S1217P	probably damaging	Het
Myocd	C	A	11: 65,069,484 (GRCm39)	L785F	probably benign	Het
Nell2	T	C	15: 95,126,982 (GRCm39)	T798A	probably damaging	Het
Nfat5	T	C	8: 108,092,808 (GRCm39)		probably benign	Het
Olfm5	T	C	7: 103,803,302 (GRCm39)		probably null	Het
Or1e26	A	G	11: 73,480,081 (GRCm39)	V161A	probably benign	Het
P2ry1	A	T	3: 60,911,199 (GRCm39)	N113Y	possibly damaging	Het
Pan3	A	G	5: 147,466,933 (GRCm39)		probably null	Het
Pappa	A	G	4: 65,115,045 (GRCm39)	R714G	probably damaging	Het
Plcd1	A	G	9: 118,901,710 (GRCm39)	F579L	probably damaging	Het
Ptprb	T	C	10: 116,155,238 (GRCm39)	V664A	probably benign	Het
Slc27a5	T	A	7: 12,731,487 (GRCm39)	Q168L	probably benign	Het
Spag8	T	C	4: 43,651,781 (GRCm39)	E395G	probably damaging	Het
Stfa2l1	T	C	16: 35,982,138 (GRCm39)	Y70H	probably damaging	Het
Taf2	T	C	15: 54,891,772 (GRCm39)	N1017S	probably benign	Het
Tnfrsf25	C	A	4: 152,203,779 (GRCm39)	Q296K	probably damaging	Het
Trpm3	T	A	19: 22,676,143 (GRCm39)	I103N	probably benign	Het

Other mutations in Cyp2d40

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01134:Cyp2d40	APN	15	82,645,102 (GRCm39)	missense	unknown
IGL01313:Cyp2d40	APN	15	82,645,478 (GRCm39)	missense	unknown
IGL01714:Cyp2d40	APN	15	82,645,441 (GRCm39)	missense	possibly damaging	0.55
IGL02993:Cyp2d40	APN	15	82,645,722 (GRCm39)	missense	probably benign	0.19
IGL03162:Cyp2d40	APN	15	82,644,243 (GRCm39)	missense	unknown
R0070:Cyp2d40	UTSW	15	82,644,975 (GRCm39)	missense	unknown
R0499:Cyp2d40	UTSW	15	82,645,418 (GRCm39)	missense	probably benign	0.11
R0885:Cyp2d40	UTSW	15	82,645,116 (GRCm39)	missense	unknown
R1587:Cyp2d40	UTSW	15	82,645,334 (GRCm39)	splice site	probably null
R1613:Cyp2d40	UTSW	15	82,645,640 (GRCm39)	missense	unknown
R4773:Cyp2d40	UTSW	15	82,645,763 (GRCm39)	missense	possibly damaging	0.73
R5047:Cyp2d40	UTSW	15	82,644,460 (GRCm39)	missense	unknown
R5604:Cyp2d40	UTSW	15	82,648,256 (GRCm39)	missense	probably damaging	0.99
R6087:Cyp2d40	UTSW	15	82,648,205 (GRCm39)	missense	possibly damaging	0.73
R6334:Cyp2d40	UTSW	15	82,645,753 (GRCm39)	missense	probably benign	0.03
R6841:Cyp2d40	UTSW	15	82,645,687 (GRCm39)	missense	probably benign	0.03
R7017:Cyp2d40	UTSW	15	82,644,234 (GRCm39)	missense	unknown
R7045:Cyp2d40	UTSW	15	82,645,763 (GRCm39)	missense	probably benign	0.01
R7565:Cyp2d40	UTSW	15	82,644,975 (GRCm39)	missense	unknown
R7934:Cyp2d40	UTSW	15	82,648,212 (GRCm39)	missense	probably damaging	0.99
R8896:Cyp2d40	UTSW	15	82,644,454 (GRCm39)	missense	unknown
R9378:Cyp2d40	UTSW	15	82,645,802 (GRCm39)	missense	possibly damaging	0.86
R9522:Cyp2d40	UTSW	15	82,648,274 (GRCm39)	missense	possibly damaging	0.50
R9558:Cyp2d40	UTSW	15	82,645,667 (GRCm39)	missense	unknown

Posted On

2015-04-16