Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02231:Cyp2d34'

285676

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: 0.071) question?

Stock #

IGL02231

Quality Score

Status

Chromosome

Chromosomal Location

82615965-82620946 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 82618606 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 140 (S140T)

Ref Sequence

ENSEMBL: ENSMUSP00000105141 (fasta)

Gene Model

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

AlphaFold

L7N463

Predicted Effect

probably benign
Transcript: ENSMUST00000109515
AA Change: S140T

PolyPhen 2 Score 0.436 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000105141
Gene: ENSMUSG00000094559
AA Change: S140T

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

Predicted Effect

probably benign
Transcript: ENSMUST00000229833

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000230716

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000231012

Meta Mutation Damage Score

0.1129

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610507B11Rik	G	A	11: 78,279,896	G1647D	probably benign	Het
Alcam	T	A	16: 52,274,050		probably benign	Het
Alox15	A	C	11: 70,349,556	D266E	probably benign	Het
Atcay	A	T	10: 81,210,548	V314E	probably damaging	Het
Atp8b1	C	T	18: 64,550,384	G758R	possibly damaging	Het
Cacna2d4	T	A	6: 119,277,908		probably benign	Het
Celsr3	T	C	9: 108,842,510	V2429A	probably damaging	Het
Clspn	T	G	4: 126,559,228	D11E	probably damaging	Het
Cnot3	A	G	7: 3,658,210	T573A	probably benign	Het
Edem1	A	G	6: 108,828,888	D50G	probably benign	Het
Emilin3	G	A	2: 160,908,515	T438I	probably damaging	Het
Etfdh	C	T	3: 79,618,393	V173I	probably damaging	Het
Fat2	T	C	11: 55,281,092	T2932A	probably damaging	Het
Fcrl1	G	A	3: 87,385,162	E154K	possibly damaging	Het
Fcrl1	A	T	3: 87,385,163	E154V	probably damaging	Het
G3bp1	T	A	11: 55,495,447	L244*	probably null	Het
Itgae	A	T	11: 73,090,622	K2M	possibly damaging	Het
Kcnq2	T	C	2: 181,081,715	I654V	probably benign	Het
Ksr2	C	T	5: 117,500,776	R82C	probably damaging	Het
Lrig3	A	T	10: 125,997,172	D305V	probably damaging	Het
Me1	T	C	9: 86,611,855	K322E	possibly damaging	Het
Med12l	T	A	3: 59,245,882	D1109E	probably damaging	Het
Mest	A	G	6: 30,740,773	K73E	possibly damaging	Het
Nup155	T	G	15: 8,144,064	L881R	probably damaging	Het
Ocln	A	T	13: 100,541,114	S2T	probably damaging	Het
Oosp3	T	C	19: 11,699,439	L54S	probably damaging	Het
Pkp3	G	A	7: 141,084,238	E443K	probably damaging	Het
Plk2	T	A	13: 110,400,069	C632S	probably benign	Het
Ptk6	C	T	2: 181,197,001	V320I	probably damaging	Het
Ptprt	A	T	2: 162,238,060	I273N	probably damaging	Het
Ptprt	A	G	2: 162,278,046		probably null	Het
Rab3gap2	T	C	1: 185,266,898		probably benign	Het
Rabgef1	G	A	5: 130,211,975	A312T	probably damaging	Het
Rabl6	T	A	2: 25,598,184	K109N	probably benign	Het
Rbp7	C	T	4: 149,454,877		probably null	Het
Reg3a	C	T	6: 78,382,241	H75Y	possibly damaging	Het
Rnf123	G	T	9: 108,066,399	P546T	probably benign	Het
Rnmt	C	A	18: 68,314,081	C345*	probably null	Het
Ror2	C	T	13: 53,110,728	S764N	probably damaging	Het
Slc14a2	C	T	18: 78,209,021	S25N	possibly damaging	Het
Spata16	G	T	3: 26,913,264	G388W	probably damaging	Het
Speg	C	T	1: 75,423,387	R2493W	probably damaging	Het
Thada	T	A	17: 84,428,697	D970V	probably damaging	Het
Tmem184c	A	G	8: 77,604,812	Y103H	probably damaging	Het
Ttn	A	T	2: 76,798,096	D12827E	probably damaging	Het
Utp20	A	G	10: 88,791,168	L976S	probably damaging	Het
Zfp318	C	T	17: 46,396,810	R265*	probably null	Het
Zfp936	T	A	7: 43,187,485		probably null	Het

Other mutations in Cyp2d34

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00743:Cyp2d34	APN	15	82617535	missense	probably damaging	0.96
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
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
R8691:Cyp2d34	UTSW	15	82618270	missense	probably benign	0.00
R8974:Cyp2d34	UTSW	15	82616336	missense	probably damaging	1.00
R9036:Cyp2d34	UTSW	15	82616322	missense	probably damaging	1.00
R9226:Cyp2d34	UTSW	15	82620700	missense	probably damaging	1.00

Posted On

2015-04-16