Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00914:Cyp2d34'

29048

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Cyp2d34

Ensembl Gene

ENSMUSG00000094559

Gene Name

cytochrome P450, family 2, subfamily d, polypeptide 34

Synonyms

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.064) question?

Stock #

IGL00914

Quality Score

Status

Chromosome

Chromosomal Location

82500166-82505147 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 82504915 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 48 (N48K)

Ref Sequence

ENSEMBL: ENSMUSP00000155117 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000109515] [ENSMUST00000229833]

AlphaFold

L7N463

Predicted Effect

possibly damaging
Transcript: ENSMUST00000109515
AA Change: N48K

PolyPhen 2 Score 0.955 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000105141
Gene: ENSMUSG00000094559
AA Change: N48K

Domain	Start	End	E-Value	Type
transmembrane domain	7	26	N/A	INTRINSIC
Pfam:p450	37	497	3.2e-141	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000229833
AA Change: N48K

PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000230716

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000231012

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 17 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ahi1	T	G	10: 20,860,198 (GRCm39)		probably null	Het
Aipl1	T	C	11: 71,922,373 (GRCm39)	D112G	probably damaging	Het
Casz1	G	A	4: 149,013,828 (GRCm39)	E131K	probably damaging	Het
Chrna4	A	G	2: 180,670,824 (GRCm39)	Y311H	probably damaging	Het
Dnajc13	T	A	9: 104,090,081 (GRCm39)	K696I	possibly damaging	Het
Dync2i1	A	G	12: 116,196,223 (GRCm39)	V508A	probably damaging	Het
Fbxo30	T	C	10: 11,166,283 (GRCm39)	V335A	probably benign	Het
Itga5	A	G	15: 103,258,799 (GRCm39)		probably null	Het
Morc2a	G	A	11: 3,618,844 (GRCm39)		probably null	Het
Nek8	T	C	11: 78,063,901 (GRCm39)	I35V	possibly damaging	Het
Or5b101	A	G	19: 13,004,955 (GRCm39)	V246A	probably damaging	Het
Or8c15	A	G	9: 38,121,095 (GRCm39)		probably null	Het
Pcyt2	A	G	11: 120,505,151 (GRCm39)		probably benign	Het
Sec23b	T	G	2: 144,408,784 (GRCm39)	S156R	probably damaging	Het
Shc3	T	A	13: 51,634,263 (GRCm39)		probably benign	Het
Sntg2	A	G	12: 30,307,956 (GRCm39)		probably benign	Het
Srms	T	A	2: 180,849,565 (GRCm39)	M280L	probably benign	Het

Other mutations in Cyp2d34

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00743:Cyp2d34	APN	15	82,501,736 (GRCm39)	missense	probably damaging	0.96
IGL01347:Cyp2d34	APN	15	82,500,978 (GRCm39)	missense	possibly damaging	0.89
IGL01354:Cyp2d34	APN	15	82,501,823 (GRCm39)	missense	probably benign	0.00
IGL01681:Cyp2d34	APN	15	82,501,332 (GRCm39)	critical splice donor site	probably null
IGL01733:Cyp2d34	APN	15	82,502,861 (GRCm39)	missense	possibly damaging	0.73
IGL02231:Cyp2d34	APN	15	82,502,807 (GRCm39)	missense	probably benign	0.44
IGL02425:Cyp2d34	APN	15	82,502,480 (GRCm39)	missense	probably benign
IGL03219:Cyp2d34	APN	15	82,502,740 (GRCm39)	missense	probably benign	0.01
R0684:Cyp2d34	UTSW	15	82,501,751 (GRCm39)	missense	probably benign	0.06
R0811:Cyp2d34	UTSW	15	82,502,807 (GRCm39)	missense	probably benign	0.44
R0812:Cyp2d34	UTSW	15	82,502,807 (GRCm39)	missense	probably benign	0.44
R1617:Cyp2d34	UTSW	15	82,505,046 (GRCm39)	missense	probably benign	0.21
R1756:Cyp2d34	UTSW	15	82,501,725 (GRCm39)	missense	probably damaging	1.00
R1827:Cyp2d34	UTSW	15	82,500,295 (GRCm39)	missense	probably benign	0.00
R1962:Cyp2d34	UTSW	15	82,502,809 (GRCm39)	missense	probably benign	0.10
R2102:Cyp2d34	UTSW	15	82,500,974 (GRCm39)	missense	probably benign	0.17
R2113:Cyp2d34	UTSW	15	82,501,817 (GRCm39)	missense	probably damaging	1.00
R2432:Cyp2d34	UTSW	15	82,503,212 (GRCm39)	missense	probably damaging	1.00
R2566:Cyp2d34	UTSW	15	82,500,368 (GRCm39)	missense	probably damaging	1.00
R3154:Cyp2d34	UTSW	15	82,501,767 (GRCm39)	missense	probably benign	0.04
R3834:Cyp2d34	UTSW	15	82,500,947 (GRCm39)	critical splice donor site	probably null
R3881:Cyp2d34	UTSW	15	82,502,818 (GRCm39)	missense	probably benign	0.00
R4022:Cyp2d34	UTSW	15	82,502,809 (GRCm39)	missense	probably benign	0.10
R4181:Cyp2d34	UTSW	15	82,501,486 (GRCm39)	splice site	probably null
R4613:Cyp2d34	UTSW	15	82,500,526 (GRCm39)	missense	probably damaging	0.98
R4636:Cyp2d34	UTSW	15	82,504,929 (GRCm39)	missense	probably damaging	1.00
R4695:Cyp2d34	UTSW	15	82,501,092 (GRCm39)	missense	probably benign
R4993:Cyp2d34	UTSW	15	82,502,530 (GRCm39)	missense	probably damaging	1.00
R5262:Cyp2d34	UTSW	15	82,502,572 (GRCm39)	missense	probably damaging	1.00
R5402:Cyp2d34	UTSW	15	82,503,287 (GRCm39)	missense	probably damaging	1.00
R5772:Cyp2d34	UTSW	15	82,501,341 (GRCm39)	missense	probably null	0.24
R5874:Cyp2d34	UTSW	15	82,503,243 (GRCm39)	missense	probably benign	0.04
R6051:Cyp2d34	UTSW	15	82,500,971 (GRCm39)	missense	probably damaging	1.00
R6057:Cyp2d34	UTSW	15	82,500,552 (GRCm39)	missense	probably benign
R6143:Cyp2d34	UTSW	15	82,504,977 (GRCm39)	missense	probably benign	0.25
R6452:Cyp2d34	UTSW	15	82,500,290 (GRCm39)	missense	probably benign	0.00
R7296:Cyp2d34	UTSW	15	82,501,436 (GRCm39)	missense	possibly damaging	0.87
R7391:Cyp2d34	UTSW	15	82,502,587 (GRCm39)	missense	probably benign	0.14
R7398:Cyp2d34	UTSW	15	82,500,964 (GRCm39)	missense	probably benign	0.04
R7867:Cyp2d34	UTSW	15	82,501,425 (GRCm39)	missense	possibly damaging	0.95
R8022:Cyp2d34	UTSW	15	82,500,315 (GRCm39)	nonsense	probably null
R8270:Cyp2d34	UTSW	15	82,504,988 (GRCm39)	missense	possibly damaging	0.55
R8365:Cyp2d34	UTSW	15	82,504,874 (GRCm39)	missense	probably damaging	0.99
R8691:Cyp2d34	UTSW	15	82,502,471 (GRCm39)	missense	probably benign	0.00
R8974:Cyp2d34	UTSW	15	82,500,537 (GRCm39)	missense	probably damaging	1.00
R9036:Cyp2d34	UTSW	15	82,500,523 (GRCm39)	missense	probably damaging	1.00
R9226:Cyp2d34	UTSW	15	82,504,901 (GRCm39)	missense	probably damaging	1.00

Posted On

2013-04-17