Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00800:Scd2'

13922

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Scd2

Ensembl Gene

ENSMUSG00000025203

Gene Name

stearoyl-Coenzyme A desaturase 2

Synonyms

Scd-2

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL00800

Quality Score

Status

Chromosome

Chromosomal Location

44282115-44295303 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 44286569 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 133 (L133P)

Ref Sequence

ENSEMBL: ENSMUSP00000026221 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000026221]

AlphaFold

P13011

Predicted Effect

probably damaging
Transcript: ENSMUST00000026221
AA Change: L133P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000026221
Gene: ENSMUSG00000025203
AA Change: L133P

Domain	Start	End	E-Value	Type
transmembrane domain	70	92	N/A	INTRINSIC
Pfam:FA_desaturase	96	315	4.9e-17	PFAM

Coding Region Coverage

Validation Efficiency

MGI Phenotype

PHENOTYPE: Homozygous null mice display neonatal lethality with variable penetrance depending on stain background, impaired skin barrier function, abnormal epidermal morphology, and abnormal lipid homeostasis in the skin and liver. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 14 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca14	A	T	7: 119,854,613 (GRCm39)	I926L	probably benign	Het
Adam6b	T	C	12: 113,454,062 (GRCm39)	V293A	probably benign	Het
Adamts14	T	A	10: 61,041,197 (GRCm39)	T838S	probably benign	Het
Cdk13	A	G	13: 17,902,727 (GRCm39)	V941A	probably damaging	Het
Cep128	T	C	12: 91,222,438 (GRCm39)	K762E	possibly damaging	Het
Dysf	A	G	6: 84,126,980 (GRCm39)	N1366S	probably damaging	Het
Gfra4	A	G	2: 130,882,203 (GRCm39)	S268P	possibly damaging	Het
Il7r	T	G	15: 9,525,195 (GRCm39)	T56P	probably damaging	Het
Ipo13	C	T	4: 117,769,505 (GRCm39)	D96N	probably benign	Het
Kl	G	A	5: 150,904,233 (GRCm39)	W328*	probably null	Het
Krt86	C	T	15: 101,371,741 (GRCm39)	H104Y	probably benign	Het
Ranbp2	T	A	10: 58,326,526 (GRCm39)	D2732E	probably benign	Het
Rpf2	G	A	10: 40,115,755 (GRCm39)	Q75*	probably null	Het
Slc6a6	T	A	6: 91,718,151 (GRCm39)		probably benign	Het

Other mutations in Scd2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01105:Scd2	APN	19	44,286,497 (GRCm39)	missense	probably benign	0.38
IGL02201:Scd2	APN	19	44,289,779 (GRCm39)	missense	probably damaging	0.99
IGL02680:Scd2	APN	19	44,289,685 (GRCm39)	missense	probably benign	0.00
unkinked	UTSW	19	44,288,198 (GRCm39)	nonsense	probably null
R0012:Scd2	UTSW	19	44,289,685 (GRCm39)	missense	probably benign	0.00
R0366:Scd2	UTSW	19	44,289,685 (GRCm39)	missense	probably benign	0.00
R0368:Scd2	UTSW	19	44,289,685 (GRCm39)	missense	probably benign	0.00
R0373:Scd2	UTSW	19	44,291,479 (GRCm39)	missense	probably damaging	1.00
R1282:Scd2	UTSW	19	44,283,620 (GRCm39)	missense	probably damaging	1.00
R1581:Scd2	UTSW	19	44,286,538 (GRCm39)	missense	probably benign	0.04
R2008:Scd2	UTSW	19	44,291,610 (GRCm39)	missense	probably benign	0.23
R2329:Scd2	UTSW	19	44,286,492 (GRCm39)	nonsense	probably null
R4755:Scd2	UTSW	19	44,289,791 (GRCm39)	missense	probably damaging	1.00
R4812:Scd2	UTSW	19	44,289,841 (GRCm39)	missense	probably damaging	1.00
R5024:Scd2	UTSW	19	44,289,710 (GRCm39)	missense	probably benign	0.02
R5568:Scd2	UTSW	19	44,288,142 (GRCm39)	missense	probably damaging	0.99
R5702:Scd2	UTSW	19	44,286,502 (GRCm39)	missense	possibly damaging	0.75
R6248:Scd2	UTSW	19	44,291,448 (GRCm39)	missense	probably damaging	1.00
R6377:Scd2	UTSW	19	44,288,198 (GRCm39)	nonsense	probably null
R8422:Scd2	UTSW	19	44,289,743 (GRCm39)	missense	probably benign	0.00
R8424:Scd2	UTSW	19	44,289,743 (GRCm39)	missense	probably benign	0.00
R8735:Scd2	UTSW	19	44,289,743 (GRCm39)	missense	probably benign	0.00
R9597:Scd2	UTSW	19	44,288,246 (GRCm39)	missense	probably damaging	1.00

Posted On

2012-12-06