Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03259:Cyp2d11'

414750

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Cyp2d11

Ensembl Gene

ENSMUSG00000068085

Gene Name

cytochrome P450, family 2, subfamily d, polypeptide 11

Synonyms

P450-2D, Cyp2d

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.110) question?

Stock #

IGL03259

Quality Score

Status

Chromosome

Chromosomal Location

82273355-82278223 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 82274221 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Methionine at position 387 (V387M)

Ref Sequence

ENSEMBL: ENSMUSP00000130338 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000170255]

AlphaFold

P24457

Predicted Effect

probably damaging
Transcript: ENSMUST00000170255
AA Change: V387M

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000130338
Gene: ENSMUSG00000068085
AA Change: V387M

Domain	Start	End	E-Value	Type
transmembrane domain	7	26	N/A	INTRINSIC
Pfam:p450	37	497	7.7e-140	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000183858

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 26 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Atp8a1	T	C	5: 67,781,349 (GRCm39)		probably null	Het
Btbd3	T	C	2: 138,121,680 (GRCm39)	M121T	probably damaging	Het
Cep192	A	T	18: 67,953,483 (GRCm39)	N500I	probably damaging	Het
Clca4a	A	G	3: 144,663,841 (GRCm39)	L534P	probably damaging	Het
Dlgap3	T	C	4: 127,094,077 (GRCm39)	I443T	probably benign	Het
Heatr5b	T	A	17: 79,098,985 (GRCm39)	D1305V	probably damaging	Het
Hps5	G	T	7: 46,412,526 (GRCm39)	P1021Q	probably damaging	Het
Iqca1	T	C	1: 89,980,156 (GRCm39)	D637G	probably damaging	Het
Kank1	A	G	19: 25,407,705 (GRCm39)	D1233G	probably damaging	Het
Lad1	A	T	1: 135,755,394 (GRCm39)	R223S	probably benign	Het
Ms4a13	A	G	19: 11,161,210 (GRCm39)	S110P	probably damaging	Het
Nmd3	T	A	3: 69,652,576 (GRCm39)	D387E	possibly damaging	Het
Or1m1	A	G	9: 18,666,811 (GRCm39)	V40A	probably benign	Het
Or7a41	C	A	10: 78,871,234 (GRCm39)	Y201*	probably null	Het
Or8k3b	G	T	2: 86,520,894 (GRCm39)	Q142K	probably benign	Het
Pcgf5	T	A	19: 36,433,059 (GRCm39)	D234E	probably benign	Het
Pcnx2	T	A	8: 126,480,388 (GRCm39)	H1973L	probably benign	Het
Peak1	A	G	9: 56,167,251 (GRCm39)	F226L	probably damaging	Het
Pgp	A	G	17: 24,690,022 (GRCm39)	K180R	probably damaging	Het
Sdk1	A	T	5: 141,938,788 (GRCm39)	K404*	probably null	Het
Serinc5	T	A	13: 92,827,500 (GRCm39)	V272D	probably damaging	Het
Slc4a5	A	G	6: 83,247,979 (GRCm39)	H395R	probably damaging	Het
Spice1	T	A	16: 44,176,530 (GRCm39)	V40D	probably damaging	Het
Syne2	A	G	12: 76,035,853 (GRCm39)	I3713M	probably benign	Het
Vmn1r58	A	T	7: 5,414,086 (GRCm39)	L48*	probably null	Het
Vwa7	A	G	17: 35,239,002 (GRCm39)		probably null	Het

Other mutations in Cyp2d11

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00418:Cyp2d11	APN	15	82,276,669 (GRCm39)	missense	probably benign	0.00
IGL00896:Cyp2d11	APN	15	82,275,275 (GRCm39)	splice site	probably benign
IGL02119:Cyp2d11	APN	15	82,274,265 (GRCm39)	missense	probably damaging	0.98
IGL02234:Cyp2d11	APN	15	82,274,340 (GRCm39)	missense	probably benign
IGL02347:Cyp2d11	APN	15	82,274,681 (GRCm39)	missense	probably benign	0.22
IGL02352:Cyp2d11	APN	15	82,278,121 (GRCm39)	missense	possibly damaging	0.50
IGL02359:Cyp2d11	APN	15	82,278,121 (GRCm39)	missense	possibly damaging	0.50
IGL02876:Cyp2d11	APN	15	82,273,697 (GRCm39)	missense	possibly damaging	0.85
IGL03079:Cyp2d11	APN	15	82,275,167 (GRCm39)	missense	probably damaging	1.00
FR4340:Cyp2d11	UTSW	15	82,274,223 (GRCm39)	frame shift	probably null
R0066:Cyp2d11	UTSW	15	82,275,958 (GRCm39)	missense	probably benign
R0066:Cyp2d11	UTSW	15	82,275,958 (GRCm39)	missense	probably benign
R0101:Cyp2d11	UTSW	15	82,274,395 (GRCm39)	splice site	probably benign
R0125:Cyp2d11	UTSW	15	82,273,422 (GRCm39)	missense	probably benign	0.45
R0973:Cyp2d11	UTSW	15	82,273,730 (GRCm39)	missense	possibly damaging	0.80
R1466:Cyp2d11	UTSW	15	82,275,936 (GRCm39)	missense	probably benign	0.00
R1466:Cyp2d11	UTSW	15	82,275,936 (GRCm39)	missense	probably benign	0.00
R1525:Cyp2d11	UTSW	15	82,273,498 (GRCm39)	missense	probably damaging	0.98
R1708:Cyp2d11	UTSW	15	82,274,633 (GRCm39)	missense	probably benign	0.01
R1968:Cyp2d11	UTSW	15	82,273,749 (GRCm39)	missense	probably benign	0.01
R2117:Cyp2d11	UTSW	15	82,275,954 (GRCm39)	missense	probably damaging	0.99
R2223:Cyp2d11	UTSW	15	82,274,332 (GRCm39)	missense	probably benign	0.23
R2405:Cyp2d11	UTSW	15	82,273,467 (GRCm39)	missense	possibly damaging	0.88
R3745:Cyp2d11	UTSW	15	82,276,056 (GRCm39)	missense	probably benign	0.31
R4081:Cyp2d11	UTSW	15	82,276,002 (GRCm39)	missense	possibly damaging	0.86
R4496:Cyp2d11	UTSW	15	82,276,149 (GRCm39)	splice site	probably benign
R4732:Cyp2d11	UTSW	15	82,273,428 (GRCm39)	missense	probably benign	0.03
R4733:Cyp2d11	UTSW	15	82,273,428 (GRCm39)	missense	probably benign	0.03
R4880:Cyp2d11	UTSW	15	82,276,306 (GRCm39)	missense	probably benign	0.01
R4898:Cyp2d11	UTSW	15	82,275,224 (GRCm39)	missense	probably benign	0.03
R5045:Cyp2d11	UTSW	15	82,275,272 (GRCm39)	critical splice acceptor site	probably null
R5328:Cyp2d11	UTSW	15	82,275,972 (GRCm39)	missense	probably benign	0.04
R5356:Cyp2d11	UTSW	15	82,274,712 (GRCm39)	missense	probably benign	0.11
R5397:Cyp2d11	UTSW	15	82,276,279 (GRCm39)	missense	probably damaging	1.00
R5582:Cyp2d11	UTSW	15	82,276,319 (GRCm39)	splice site	probably null
R6862:Cyp2d11	UTSW	15	82,274,339 (GRCm39)	missense	probably benign
R7194:Cyp2d11	UTSW	15	82,275,969 (GRCm39)	missense	probably benign
R8097:Cyp2d11	UTSW	15	82,274,581 (GRCm39)	critical splice donor site	probably null
R8122:Cyp2d11	UTSW	15	82,276,744 (GRCm39)	missense	probably benign	0.27
R8152:Cyp2d11	UTSW	15	82,276,688 (GRCm39)	missense	probably benign
R8194:Cyp2d11	UTSW	15	82,274,638 (GRCm39)	missense	probably damaging	1.00
R8531:Cyp2d11	UTSW	15	82,273,429 (GRCm39)	missense	probably benign
R8894:Cyp2d11	UTSW	15	82,274,671 (GRCm39)	missense	probably benign	0.22
R8905:Cyp2d11	UTSW	15	82,275,102 (GRCm39)	missense	probably benign	0.00
R9112:Cyp2d11	UTSW	15	82,276,203 (GRCm39)	missense	possibly damaging	0.94
Z1088:Cyp2d11	UTSW	15	82,274,312 (GRCm39)	missense	probably damaging	0.99
Z1177:Cyp2d11	UTSW	15	82,276,700 (GRCm39)	missense	probably damaging	0.96

Posted On

2016-08-02