Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03219:Cyp2d34'

413576

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 #

IGL03219

Quality Score

Status

Chromosome

Chromosomal Location

82500166-82505147 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 82502740 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 162 (H162R)

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: H162R

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000105141
Gene: ENSMUSG00000094559
AA Change: H162R

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

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 23 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Clasp2	T	C	9: 113,677,545 (GRCm39)		probably benign	Het
Ctss	C	T	3: 95,450,411 (GRCm39)	R121W	possibly damaging	Het
Cyp2c67	A	T	19: 39,631,738 (GRCm39)	M153K	possibly damaging	Het
Dynlrb2	A	T	8: 117,241,635 (GRCm39)	I60F	probably benign	Het
E4f1	C	T	17: 24,664,419 (GRCm39)		probably null	Het
Fzd6	T	A	15: 38,894,971 (GRCm39)	V379E	probably damaging	Het
Galnt13	T	C	2: 54,823,447 (GRCm39)	V341A	possibly damaging	Het
Hip1	T	C	5: 135,485,904 (GRCm39)	S100G	probably benign	Het
Ncapd3	T	C	9: 26,975,169 (GRCm39)		probably benign	Het
Obox3	G	A	7: 15,359,803 (GRCm39)	L289F	probably damaging	Het
Or52s6	C	T	7: 103,091,745 (GRCm39)	G195E	possibly damaging	Het
Or8b50	G	T	9: 38,518,247 (GRCm39)	C162F	probably benign	Het
Pkhd1l1	G	A	15: 44,460,291 (GRCm39)	E4167K	possibly damaging	Het
Pphln1	T	C	15: 93,363,136 (GRCm39)		probably benign	Het
Ranbp6	A	T	19: 29,787,680 (GRCm39)	W891R	probably damaging	Het
Rgs22	A	T	15: 36,107,194 (GRCm39)	L64Q	probably damaging	Het
Ripor2	A	T	13: 24,907,702 (GRCm39)	Y991F	probably damaging	Het
Senp2	T	A	16: 21,833,014 (GRCm39)		probably benign	Het
Slc44a3	G	A	3: 121,257,169 (GRCm39)	T508I	probably damaging	Het
Tdrd6	T	C	17: 43,938,855 (GRCm39)	D731G	probably benign	Het
Thnsl1	T	A	2: 21,217,217 (GRCm39)	C324S	probably benign	Het
Tnfrsf11b	A	T	15: 54,117,574 (GRCm39)	L227*	probably null	Het
Tulp4	T	C	17: 6,189,285 (GRCm39)	C36R	probably damaging	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
IGL00914:Cyp2d34	APN	15	82,504,915 (GRCm39)	missense	probably damaging	0.98
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
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

2016-08-02