Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01339:Cyp2d10'

74732

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Cyp2d10

Ensembl Gene

ENSMUSG00000094806

Gene Name

cytochrome P450, family 2, subfamily d, polypeptide 10

Synonyms

P450-2D, Cyp2d

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.089) question?

Stock #

IGL01339

Quality Score

Status

Chromosome

Chromosomal Location

82287047-82291396 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 82288042 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Threonine at position 195 (A195T)

Ref Sequence

ENSEMBL: ENSMUSP00000155572 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000072776] [ENSMUST00000229628] [ENSMUST00000229911] [ENSMUST00000230198] [ENSMUST00000230248] [ENSMUST00000230843]

AlphaFold

P24456

Predicted Effect

probably benign
Transcript: ENSMUST00000072776
AA Change: A354T

PolyPhen 2 Score 0.098 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000072555
Gene: ENSMUSG00000094806
AA Change: A354T

Domain	Start	End	E-Value	Type
transmembrane domain	4	26	N/A	INTRINSIC
Pfam:p450	37	497	6e-143	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000102440

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000183705

Predicted Effect

probably benign
Transcript: ENSMUST00000229628

Predicted Effect

probably benign
Transcript: ENSMUST00000229911

Predicted Effect

probably benign
Transcript: ENSMUST00000230198
AA Change: A354T

PolyPhen 2 Score 0.121 (Sensitivity: 0.93; Specificity: 0.86)

Predicted Effect

probably benign
Transcript: ENSMUST00000230248

Predicted Effect

probably benign
Transcript: ENSMUST00000230843
AA Change: A195T

PolyPhen 2 Score 0.331 (Sensitivity: 0.90; Specificity: 0.89)

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Bahcc1	A	G	11: 120,180,338 (GRCm39)	T2565A	probably damaging	Het
C8a	A	C	4: 104,685,182 (GRCm39)	F354V	probably benign	Het
Cadps	C	T	14: 12,486,543 (GRCm38)	V876M	possibly damaging	Het
Chmp7	A	T	14: 69,956,855 (GRCm39)	I351N	probably damaging	Het
Clec7a	A	T	6: 129,442,449 (GRCm39)	W193R	probably damaging	Het
Clint1	T	C	11: 45,799,846 (GRCm39)	V535A	probably benign	Het
Clu	A	G	14: 66,213,037 (GRCm39)	E141G	probably damaging	Het
Cmah	A	T	13: 24,614,532 (GRCm39)	D159V	probably damaging	Het
Cntn2	A	T	1: 132,446,643 (GRCm39)		probably null	Het
Cox6a1	C	A	5: 115,483,898 (GRCm39)		probably benign	Het
Dnah10	G	T	5: 124,854,276 (GRCm39)	K1901N	probably damaging	Het
Dnai3	T	C	3: 145,748,591 (GRCm39)	Y841C	probably benign	Het
Dop1a	G	A	9: 86,433,730 (GRCm39)	D2329N	possibly damaging	Het
Eipr1	A	G	12: 28,914,770 (GRCm39)	E308G	probably damaging	Het
Exoc4	T	C	6: 33,282,335 (GRCm39)		probably benign	Het
Fancd2	A	G	6: 113,530,713 (GRCm39)	I449V	probably benign	Het
Fbn2	T	C	18: 58,246,442 (GRCm39)	T487A	possibly damaging	Het
Fbxo40	T	C	16: 36,790,816 (GRCm39)	E98G	probably damaging	Het
Folh1	G	A	7: 86,375,306 (GRCm39)	T527I	probably damaging	Het
Gls	C	T	1: 52,227,867 (GRCm39)	D217N	probably damaging	Het
Gm6994	A	G	14: 77,718,618 (GRCm39)		probably benign	Het
Gpr149	A	T	3: 62,511,718 (GRCm39)	W94R	probably damaging	Het
Gpr158	A	G	2: 21,373,842 (GRCm39)	D259G	possibly damaging	Het
Hcn2	T	C	10: 79,564,902 (GRCm39)	L438P	probably damaging	Het
Hgd	A	C	16: 37,452,092 (GRCm39)	T374P	possibly damaging	Het
Ints3	A	G	3: 90,322,463 (GRCm39)		probably null	Het
Kctd5	A	T	17: 24,276,749 (GRCm39)	V172E	probably damaging	Het
Lmcd1	A	G	6: 112,287,586 (GRCm39)	I91V	probably benign	Het
Lrrc37a	A	G	11: 103,388,763 (GRCm39)	S2221P	unknown	Het
Ltk	T	A	2: 119,583,455 (GRCm39)	D310V	probably damaging	Het
Luzp1	T	A	4: 136,270,087 (GRCm39)	M770K	probably damaging	Het
Mxd4	G	A	5: 34,341,690 (GRCm39)		probably benign	Het
Mzb1	T	A	18: 35,781,399 (GRCm39)	H71L	probably benign	Het
Necap2	G	A	4: 140,802,276 (GRCm39)	T63I	probably benign	Het
Nefl	A	G	14: 68,323,931 (GRCm39)		probably benign	Het
Odam	G	A	5: 88,033,755 (GRCm39)		probably null	Het
Pcdh18	A	G	3: 49,710,247 (GRCm39)	I356T	probably benign	Het
Pcx	T	A	19: 4,670,263 (GRCm39)		probably null	Het
Pde2a	T	C	7: 101,156,366 (GRCm39)	S593P	probably benign	Het
Rapgef3	A	T	15: 97,655,940 (GRCm39)	L359M	probably damaging	Het
Rb1	T	C	14: 73,501,811 (GRCm39)		probably null	Het
Rbm44	A	G	1: 91,096,686 (GRCm39)	I976V	probably benign	Het
Rdh13	A	T	7: 4,430,623 (GRCm39)	S278R	probably damaging	Het
Rgma	A	G	7: 73,067,231 (GRCm39)	E256G	probably damaging	Het
Rnf112	A	T	11: 61,341,303 (GRCm39)	D402E	probably benign	Het
Rnps1	T	A	17: 24,641,273 (GRCm39)	D224E	probably damaging	Het
Scn10a	C	T	9: 119,451,832 (GRCm39)	V1364M	probably damaging	Het
Scn1a	C	T	2: 66,156,304 (GRCm39)	R535H	probably benign	Het
Scn8a	A	T	15: 100,930,082 (GRCm39)	D1431V	probably benign	Het
Setdb1	A	T	3: 95,245,891 (GRCm39)	L677*	probably null	Het
Slc17a8	T	A	10: 89,427,106 (GRCm39)	I148F	probably damaging	Het
Slx4ip	T	A	2: 136,885,975 (GRCm39)	C98*	probably null	Het
Sptbn2	T	G	19: 4,796,000 (GRCm39)	Y1726*	probably null	Het
Tcof1	T	C	18: 60,951,167 (GRCm39)		probably benign	Het
Tdrd3	G	A	14: 87,718,230 (GRCm39)	V210I	possibly damaging	Het
Tdrd9	G	A	12: 112,006,868 (GRCm39)	V911M	probably damaging	Het
Tmod4	G	A	3: 95,035,608 (GRCm39)	R252H	probably benign	Het
Tti1	G	T	2: 157,851,050 (GRCm39)	P63Q	possibly damaging	Het
Tuft1	A	T	3: 94,535,594 (GRCm39)	D109E	probably damaging	Het
Zcchc2	T	C	1: 105,957,505 (GRCm39)	S659P	probably damaging	Het

Other mutations in Cyp2d10

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00490:Cyp2d10	APN	15	82,287,515 (GRCm39)	missense	possibly damaging	0.71
IGL00840:Cyp2d10	APN	15	82,288,691 (GRCm39)	missense	probably benign	0.40
IGL01293:Cyp2d10	APN	15	82,287,210 (GRCm39)	missense	possibly damaging	0.92
IGL01871:Cyp2d10	APN	15	82,288,086 (GRCm39)	missense	probably damaging	1.00
IGL02132:Cyp2d10	APN	15	82,288,808 (GRCm39)	intron	probably benign
IGL02713:Cyp2d10	APN	15	82,290,283 (GRCm39)	unclassified	probably benign
IGL02869:Cyp2d10	APN	15	82,288,069 (GRCm39)	missense	possibly damaging	0.84
R0102:Cyp2d10	UTSW	15	82,288,794 (GRCm39)	missense	probably benign	0.01
R0102:Cyp2d10	UTSW	15	82,288,794 (GRCm39)	missense	probably benign	0.01
R0279:Cyp2d10	UTSW	15	82,289,540 (GRCm39)	missense	possibly damaging	0.94
R0331:Cyp2d10	UTSW	15	82,291,227 (GRCm39)	missense	probably benign	0.12
R1344:Cyp2d10	UTSW	15	82,290,106 (GRCm39)	critical splice donor site	probably null
R1418:Cyp2d10	UTSW	15	82,290,106 (GRCm39)	critical splice donor site	probably null
R1465:Cyp2d10	UTSW	15	82,288,129 (GRCm39)	splice site	probably null
R1465:Cyp2d10	UTSW	15	82,288,129 (GRCm39)	splice site	probably null
R1706:Cyp2d10	UTSW	15	82,289,783 (GRCm39)	missense	probably damaging	0.96
R1712:Cyp2d10	UTSW	15	82,287,240 (GRCm39)	missense	probably damaging	1.00
R1940:Cyp2d10	UTSW	15	82,289,495 (GRCm39)	missense	probably benign	0.13
R1983:Cyp2d10	UTSW	15	82,290,200 (GRCm39)	missense	probably benign	0.15
R2056:Cyp2d10	UTSW	15	82,288,015 (GRCm39)	missense	probably damaging	1.00
R2058:Cyp2d10	UTSW	15	82,288,015 (GRCm39)	missense	probably damaging	1.00
R3707:Cyp2d10	UTSW	15	82,287,217 (GRCm39)	missense	possibly damaging	0.91
R3708:Cyp2d10	UTSW	15	82,287,217 (GRCm39)	missense	possibly damaging	0.91
R4042:Cyp2d10	UTSW	15	82,290,269 (GRCm39)	missense	probably benign	0.33
R4531:Cyp2d10	UTSW	15	82,289,462 (GRCm39)	missense	probably benign	0.31
R4694:Cyp2d10	UTSW	15	82,288,684 (GRCm39)	missense	probably damaging	1.00
R4869:Cyp2d10	UTSW	15	82,287,967 (GRCm39)	missense	probably benign	0.00
R5071:Cyp2d10	UTSW	15	82,287,954 (GRCm39)	missense	probably benign	0.07
R5072:Cyp2d10	UTSW	15	82,287,954 (GRCm39)	missense	probably benign	0.07
R5073:Cyp2d10	UTSW	15	82,287,954 (GRCm39)	missense	probably benign	0.07
R5074:Cyp2d10	UTSW	15	82,287,954 (GRCm39)	missense	probably benign	0.07
R5746:Cyp2d10	UTSW	15	82,289,472 (GRCm39)	missense	probably benign	0.38
R7096:Cyp2d10	UTSW	15	82,289,462 (GRCm39)	missense	probably benign
R7212:Cyp2d10	UTSW	15	82,288,447 (GRCm39)	critical splice acceptor site	probably null
R7324:Cyp2d10	UTSW	15	82,287,961 (GRCm39)	missense	probably damaging	0.97
R7487:Cyp2d10	UTSW	15	82,288,793 (GRCm39)	missense	probably benign	0.00
R7915:Cyp2d10	UTSW	15	82,288,628 (GRCm39)	critical splice donor site	probably null
R9071:Cyp2d10	UTSW	15	82,288,361 (GRCm39)	missense	probably damaging	0.99
R9460:Cyp2d10	UTSW	15	82,289,470 (GRCm39)	missense	probably benign	0.00
X0063:Cyp2d10	UTSW	15	82,290,201 (GRCm39)	missense	probably benign	0.01

Posted On

2013-10-07