Mutagenetix > Incidental Mutation

Incidental Mutation 'R5702:Scd2'

451774

Institutional Source

Beutler Lab

Gene Symbol

Scd2

Ensembl Gene

ENSMUSG00000025203

Gene Name

stearoyl-Coenzyme A desaturase 2

Synonyms

Scd-2

MMRRC Submission

043182-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5702 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

44282115-44295303 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 44286502 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Threonine at position 111 (A111T)

Ref Sequence

ENSEMBL: ENSMUSP00000026221 (fasta)

Gene Model

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

AlphaFold

P13011

Predicted Effect

possibly damaging
Transcript: ENSMUST00000026221
AA Change: A111T

PolyPhen 2 Score 0.746 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000026221
Gene: ENSMUSG00000025203
AA Change: A111T

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

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.6%

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: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb1a	G	A	5: 8,787,752 (GRCm39)	S1018N	probably benign	Het
Adat1	G	T	8: 112,704,704 (GRCm39)	T414K	probably benign	Het
Ahnak	G	T	19: 8,979,204 (GRCm39)	V163L	probably damaging	Het
Atf6b	T	C	17: 34,869,978 (GRCm39)	I288T	possibly damaging	Het
Blm	A	T	7: 80,108,675 (GRCm39)	V1323E	probably benign	Het
Brap	T	A	5: 121,803,206 (GRCm39)	L118Q	probably damaging	Het
C1qbp	G	A	11: 70,869,570 (GRCm39)	T171I	probably benign	Het
Ccdc136	C	A	6: 29,412,981 (GRCm39)	H455Q	probably damaging	Het
Chd3	A	T	11: 69,252,261 (GRCm39)	V47D	possibly damaging	Het
Cnot10	A	C	9: 114,458,078 (GRCm39)	F143V	probably damaging	Het
Cnot8	T	C	11: 58,004,873 (GRCm39)	S191P	possibly damaging	Het
Coro2b	G	A	9: 62,333,859 (GRCm39)	T345I	probably damaging	Het
Dennd1b	T	C	1: 139,061,413 (GRCm39)	I365T	probably damaging	Het
Dnah11	C	A	12: 118,077,642 (GRCm39)	A1284S	probably benign	Het
Dock4	G	A	12: 40,787,490 (GRCm39)	D802N	probably benign	Het
Dsg1a	T	C	18: 20,469,922 (GRCm39)		probably null	Het
Elp3	C	T	14: 65,815,431 (GRCm39)	R187Q	probably damaging	Het
Ercc3	G	A	18: 32,387,206 (GRCm39)	R473Q	probably damaging	Het
F5	G	A	1: 164,022,116 (GRCm39)	W1530*	probably null	Het
Fmnl1	T	C	11: 103,076,491 (GRCm39)	I219T	probably damaging	Het
Gemin4	G	A	11: 76,101,663 (GRCm39)	R1033C	probably benign	Het
Gm2381	T	A	7: 42,471,820 (GRCm39)	I20F	probably benign	Het
Hmgcll1	A	G	9: 75,991,672 (GRCm39)	M129V	possibly damaging	Het
Ltbp3	G	T	19: 5,797,849 (GRCm39)	R496L	probably benign	Het
Mettl13	A	G	1: 162,373,549 (GRCm39)	V234A	probably benign	Het
Minar1	G	A	9: 89,473,208 (GRCm39)	A901V	probably benign	Het
Or1j4	A	G	2: 36,740,946 (GRCm39)	D296G	probably damaging	Het
Pde7a	A	T	3: 19,295,371 (GRCm39)	C146*	probably null	Het
Pla2g4e	T	A	2: 120,018,992 (GRCm39)	N202Y	possibly damaging	Het
Plk5	G	A	10: 80,196,401 (GRCm39)		probably null	Het
Plscr1l1	G	A	9: 92,225,741 (GRCm39)		probably null	Het
Ptpn7	A	G	1: 135,061,582 (GRCm39)	T15A	probably benign	Het
Rrn3	T	A	16: 13,631,130 (GRCm39)	Y655*	probably null	Het
Scarb2	C	T	5: 92,599,255 (GRCm39)	G355D	probably damaging	Het
Smim8	TTTAATGAAGAGCT	TT	4: 34,771,261 (GRCm39)		probably benign	Het
Smurf1	T	C	5: 144,838,021 (GRCm39)	T57A	possibly damaging	Het
Spire2	C	T	8: 124,073,402 (GRCm39)	P94S	probably benign	Het
Tex2	T	C	11: 106,435,221 (GRCm39)	H237R	possibly damaging	Het
Vmn2r109	T	C	17: 20,774,407 (GRCm39)	D316G	probably benign	Het
Zfp830	T	A	11: 82,655,800 (GRCm39)	F201L	possibly damaging	Het
Zic1	A	G	9: 91,246,133 (GRCm39)	F313S	probably damaging	Het

Other mutations in Scd2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00800:Scd2	APN	19	44,286,569 (GRCm39)	missense	probably damaging	1.00
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
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

Predicted Primers

PCR Primer
(F):5'- TAGCCAGACTCGTGATGACC -3'
(R):5'- TCCAGACCTTGATCCCTGAC -3'

Sequencing Primer
(F):5'- ACTCGTGATGACCAGTGGTAC -3'
(R):5'- AGACCTTGATCCCTGACTACCC -3'

Posted On

2017-01-03