Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02681:Scp2d1'

303365

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Scp2d1

Ensembl Gene

ENSMUSG00000027431

Gene Name

SCP2 sterol-binding domain containing 1

Synonyms

1700010M22Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.090) question?

Stock #

IGL02681

Quality Score

Status

Chromosome

Chromosomal Location

144665586-144666335 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 144665804 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 48 (F48L)

Ref Sequence

ENSEMBL: ENSMUSP00000028918 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000028918]

AlphaFold

Q9DAH1

Predicted Effect

probably benign
Transcript: ENSMUST00000028918
AA Change: F48L

PolyPhen 2 Score 0.034 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000028918
Gene: ENSMUSG00000027431
AA Change: F48L

Domain	Start	End	E-Value	Type
Pfam:SCP2	48	151	3.4e-21	PFAM

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
Bcar3	C	T	3: 122,306,417 (GRCm39)		probably null	Het
Cyp3a59	T	C	5: 146,027,556 (GRCm39)		probably benign	Het
Dnah2	G	A	11: 69,343,759 (GRCm39)	T2844M	probably benign	Het
Ehbp1l1	T	C	19: 5,770,853 (GRCm39)	I241M	probably damaging	Het
Fancl	G	A	11: 26,418,722 (GRCm39)		probably null	Het
Filip1l	A	G	16: 57,392,142 (GRCm39)	Q910R	probably benign	Het
Fn1	A	T	1: 71,658,641 (GRCm39)	V1139E	probably damaging	Het
Gm4787	A	G	12: 81,425,543 (GRCm39)	V205A	possibly damaging	Het
Gpr158	T	A	2: 21,820,441 (GRCm39)	L646Q	probably damaging	Het
Ifna1	A	G	4: 88,768,523 (GRCm39)	D67G	probably benign	Het
Il11ra1	T	A	4: 41,768,552 (GRCm39)	M412K	possibly damaging	Het
Klra10	T	A	6: 130,256,382 (GRCm39)	M91L	probably damaging	Het
Krba1	T	A	6: 48,381,052 (GRCm39)	D129E	probably damaging	Het
Mat1a	T	C	14: 40,844,453 (GRCm39)		probably benign	Het
Med24	T	A	11: 98,600,565 (GRCm39)	K627*	probably null	Het
Mpl	A	T	4: 118,306,068 (GRCm39)		probably benign	Het
Mynn	T	A	3: 30,670,791 (GRCm39)	D554E	probably benign	Het
Niban2	A	G	2: 32,801,402 (GRCm39)	Y122C	probably benign	Het
Or1e23	T	C	11: 73,407,356 (GRCm39)	Y223C	probably benign	Het
Prkcd	T	C	14: 30,323,190 (GRCm39)		probably null	Het
Prrc2c	T	C	1: 162,533,181 (GRCm39)		probably benign	Het
Slc12a2	A	G	18: 58,012,471 (GRCm39)	H198R	probably benign	Het
Sulf2	A	G	2: 165,958,905 (GRCm39)	V101A	probably benign	Het
Synj2	T	A	17: 6,040,611 (GRCm39)	V144E	probably damaging	Het
Tas2r113	T	G	6: 132,870,330 (GRCm39)	F119L	probably damaging	Het
Tspan17	A	G	13: 54,937,442 (GRCm39)	E12G	probably damaging	Het

Other mutations in Scp2d1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02504:Scp2d1	APN	2	144,665,877 (GRCm39)	missense	probably damaging	1.00
R2918:Scp2d1	UTSW	2	144,665,868 (GRCm39)	missense	probably damaging	1.00
R3508:Scp2d1	UTSW	2	144,665,918 (GRCm39)	missense	probably benign	0.01
R4342:Scp2d1	UTSW	2	144,666,087 (GRCm39)	missense	probably damaging	1.00
R4923:Scp2d1	UTSW	2	144,666,030 (GRCm39)	missense	probably benign	0.06
R5766:Scp2d1	UTSW	2	144,665,957 (GRCm39)	missense	possibly damaging	0.92
R6223:Scp2d1	UTSW	2	144,665,868 (GRCm39)	missense	possibly damaging	0.95
R8954:Scp2d1	UTSW	2	144,665,886 (GRCm39)	missense	probably damaging	1.00

Posted On

2015-04-16