Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL00743:Cyp2d34'

9988

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

Is this an essential gene?

Probably non essential (E-score: 0.062) question?

Stock #

IGL00743

Quality Score

Status

Chromosome

Chromosomal Location

82615965-82620946 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 82617535 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Aspartic acid at position 258 (V258D)

Ref Sequence

ENSEMBL: ENSMUSP00000105141 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000109515
AA Change: V258D

PolyPhen 2 Score 0.964 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000105141
Gene: ENSMUSG00000094559
AA Change: V258D

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000184667

Predicted Effect

probably benign
Transcript: ENSMUST00000229833

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000230103

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: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acss1	T	C	2: 150,619,686	E659G	probably benign	Het
Adgrg6	A	C	10: 14,535,959		probably benign	Het
Als2cl	A	G	9: 110,889,159	K323E	possibly damaging	Het
Atm	A	C	9: 53,513,116	S628R	probably benign	Het
Baz2a	T	C	10: 128,114,526	V443A	probably benign	Het
Bclaf3	T	A	X: 159,558,361	F545Y	probably benign	Het
Calcr	T	C	6: 3,717,196	Y88C	probably damaging	Het
Ccdc178	C	T	18: 22,145,444		probably benign	Het
Cdh20	A	G	1: 104,947,428	T312A	probably benign	Het
Chrnd	G	A	1: 87,192,927	W91*	probably null	Het
Cntln	T	C	4: 84,979,415	F413S	probably benign	Het
Ctsq	A	T	13: 61,036,184	I308N	probably damaging	Het
Dnajc13	G	A	9: 104,162,780	P2044S	probably benign	Het
Hnrnpm	C	A	17: 33,649,902	R517L	probably damaging	Het
Hps6	A	T	19: 46,003,660	D12V	probably damaging	Het
Hpse	T	C	5: 100,698,999	D188G	probably benign	Het
Id2	C	A	12: 25,095,356	E123*	probably null	Het
Ints10	C	T	8: 68,819,333	P562L	probably damaging	Het
Kctd10	G	A	5: 114,367,349	R195C	probably damaging	Het
Kel	A	C	6: 41,688,575	L537R	probably damaging	Het
Kif19a	T	C	11: 114,784,773	V357A	probably damaging	Het
Lrrtm3	A	T	10: 64,089,209	S60T	probably damaging	Het
Myof	C	A	19: 37,960,934	R608L	probably benign	Het
Naa35	A	T	13: 59,630,671	I669F	probably benign	Het
Olfr968	A	G	9: 39,772,111	S230P	possibly damaging	Het
Olfr971	A	T	9: 39,839,706	I91F	probably benign	Het
Pclo	G	T	5: 14,678,021		probably benign	Het
Pik3c3	C	T	18: 30,274,364	S55F	probably damaging	Het
Prdm6	T	G	18: 53,540,228	D153E	possibly damaging	Het
Rnf183	T	C	4: 62,428,373	T63A	probably benign	Het
Samd4b	A	C	7: 28,401,877	I108S	probably damaging	Het
Slc9a7	T	C	X: 20,106,021	D708G	possibly damaging	Het
Stim2	A	G	5: 54,053,493	D90G	probably benign	Het
Tmem52b	A	G	6: 129,516,715	D97G	probably damaging	Het
Tnfsf15	T	C	4: 63,734,281	R98G	probably benign	Het
Uxs1	C	T	1: 43,757,013	V310I	probably benign	Het
Vcan	A	C	13: 89,725,306	M143R	probably damaging	Het
Vmn2r93	T	C	17: 18,326,242	F792S	probably damaging	Het
Zfp455	T	C	13: 67,207,898	I345T	probably benign	Het
Zfp938	A	T	10: 82,226,483	M101K	probably benign	Het
Zkscan2	A	G	7: 123,479,972	S921P	probably damaging	Het

Other mutations in Cyp2d34

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00914:Cyp2d34	APN	15	82620714	missense	probably damaging	0.98
IGL01347:Cyp2d34	APN	15	82616777	missense	possibly damaging	0.89
IGL01354:Cyp2d34	APN	15	82617622	missense	probably benign	0.00
IGL01681:Cyp2d34	APN	15	82617131	critical splice donor site	probably null
IGL01733:Cyp2d34	APN	15	82618660	missense	possibly damaging	0.73
IGL02231:Cyp2d34	APN	15	82618606	missense	probably benign	0.44
IGL02425:Cyp2d34	APN	15	82618279	missense	probably benign
IGL03219:Cyp2d34	APN	15	82618539	missense	probably benign	0.01
R0684:Cyp2d34	UTSW	15	82617550	missense	probably benign	0.06
R0811:Cyp2d34	UTSW	15	82618606	missense	probably benign	0.44
R0812:Cyp2d34	UTSW	15	82618606	missense	probably benign	0.44
R1617:Cyp2d34	UTSW	15	82620845	missense	probably benign	0.21
R1756:Cyp2d34	UTSW	15	82617524	missense	probably damaging	1.00
R1827:Cyp2d34	UTSW	15	82616094	missense	probably benign	0.00
R1962:Cyp2d34	UTSW	15	82618608	missense	probably benign	0.10
R2102:Cyp2d34	UTSW	15	82616773	missense	probably benign	0.17
R2113:Cyp2d34	UTSW	15	82617616	missense	probably damaging	1.00
R2432:Cyp2d34	UTSW	15	82619011	missense	probably damaging	1.00
R2566:Cyp2d34	UTSW	15	82616167	missense	probably damaging	1.00
R3154:Cyp2d34	UTSW	15	82617566	missense	probably benign	0.04
R3834:Cyp2d34	UTSW	15	82616746	critical splice donor site	probably null
R3881:Cyp2d34	UTSW	15	82618617	missense	probably benign	0.00
R4022:Cyp2d34	UTSW	15	82618608	missense	probably benign	0.10
R4181:Cyp2d34	UTSW	15	82617285	splice site	probably null
R4613:Cyp2d34	UTSW	15	82616325	missense	probably damaging	0.98
R4636:Cyp2d34	UTSW	15	82620728	missense	probably damaging	1.00
R4695:Cyp2d34	UTSW	15	82616891	missense	probably benign
R4993:Cyp2d34	UTSW	15	82618329	missense	probably damaging	1.00
R5262:Cyp2d34	UTSW	15	82618371	missense	probably damaging	1.00
R5402:Cyp2d34	UTSW	15	82619086	missense	probably damaging	1.00
R5772:Cyp2d34	UTSW	15	82617140	missense	probably null	0.24
R5874:Cyp2d34	UTSW	15	82619042	missense	probably benign	0.04
R6051:Cyp2d34	UTSW	15	82616770	missense	probably damaging	1.00
R6057:Cyp2d34	UTSW	15	82616351	missense	probably benign
R6143:Cyp2d34	UTSW	15	82620776	missense	probably benign	0.25
R6452:Cyp2d34	UTSW	15	82616089	missense	probably benign	0.00
R7296:Cyp2d34	UTSW	15	82617235	missense	possibly damaging	0.87
R7391:Cyp2d34	UTSW	15	82618386	missense	probably benign	0.14
R7398:Cyp2d34	UTSW	15	82616763	missense	probably benign	0.04
R7867:Cyp2d34	UTSW	15	82617224	missense	possibly damaging	0.95
R8022:Cyp2d34	UTSW	15	82616114	nonsense	probably null
R8270:Cyp2d34	UTSW	15	82620787	missense	possibly damaging	0.55
R8365:Cyp2d34	UTSW	15	82620673	missense	probably damaging	0.99

Posted On

2012-12-06