Mutagenetix > Incidental Mutations

Incidental Mutation 'R1282:Scd2'

151079

Institutional Source

Beutler Lab

Gene Symbol

Scd2

Ensembl Gene

ENSMUSG00000025203

Gene Name

stearoyl-Coenzyme A desaturase 2

Synonyms

Scd-2

MMRRC Submission

039348-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R1282 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

44293676-44306864 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 44295181 bp

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 101 (L101P)

Ref Sequence

ENSEMBL: ENSMUSP00000026221 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000026221
AA Change: L101P

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000026221
Gene: ENSMUSG00000025203
AA Change: L101P

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: 99.1%
3x: 98.3%
10x: 96.4%
20x: 93.1%

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: 35 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2810474O19Rik	C	T	6: 149,329,172	Q1239*	probably null	Het
Acmsd	T	C	1: 127,738,560	Y23H	probably damaging	Het
Alkbh2	C	T	5: 114,124,226	E148K	probably damaging	Het
Atp2a2	G	T	5: 122,491,754	T84K	probably benign	Het
Cfap65	T	A	1: 74,925,104	T562S	probably benign	Het
Cyp2b10	G	A	7: 25,926,080	C436Y	probably damaging	Het
Dnajc7	T	C	11: 100,584,641	D381G	probably damaging	Het
Dnase1l3	T	C	14: 7,983,117	D129G	probably benign	Het
Espl1	A	G	15: 102,315,391	T1126A	probably benign	Het
Exoc3	T	C	13: 74,182,292	N506S	probably benign	Het
Fastkd3	C	A	13: 68,584,557	N332K	possibly damaging	Het
Fbxw15	G	A	9: 109,558,246	S227F	probably damaging	Het
Foxp4	G	A	17: 47,875,643	P404S	unknown	Het
Gjb3	G	A	4: 127,326,431	R103W	probably damaging	Het
Gm12789	T	A	4: 101,988,290	W59R	probably damaging	Het
Greb1l	T	A	18: 10,547,289	N1502K	probably benign	Het
H2-K1	A	C	17: 33,999,447	I165S	probably damaging	Het
Ipo9	A	G	1: 135,402,292	I470T	possibly damaging	Het
Kcnu1	A	T	8: 25,905,957	I657F	probably benign	Het
Lrp1b	A	T	2: 40,860,761	N2930K	probably damaging	Het
Olfr683	T	A	7: 105,143,652	I220F	probably benign	Het
Prag1	T	C	8: 36,099,914	V73A	probably damaging	Het
Prrc2b	T	C	2: 32,223,444	I1963T	probably damaging	Het
Rep15	C	T	6: 147,033,229	R189*	probably null	Het
Rtp3	T	C	9: 110,986,920	K188E	probably benign	Het
Scn7a	A	T	2: 66,700,849	H561Q	probably damaging	Het
Sfr1	T	C	19: 47,732,968	S118P	probably damaging	Het
Slf1	C	T	13: 77,043,840	M958I	probably damaging	Het
Snrk	G	T	9: 122,160,520	R310L	possibly damaging	Het
Snx11	T	C	11: 96,773,161	Y35C	probably damaging	Het
Supt6	T	C	11: 78,228,768	T404A	possibly damaging	Het
Svep1	C	A	4: 58,100,032	L1337F	possibly damaging	Het
Traf3ip2	C	T	10: 39,626,405	T183M	probably damaging	Het
Vmn2r28	A	T	7: 5,481,302	M633K	probably damaging	Het
Vmn2r67	A	G	7: 85,136,724	V691A	probably benign	Het

Other mutations in Scd2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00800:Scd2	APN	19	44298130	missense	probably damaging	1.00
IGL01105:Scd2	APN	19	44298058	missense	probably benign	0.38
IGL02201:Scd2	APN	19	44301340	missense	probably damaging	0.99
IGL02680:Scd2	APN	19	44301246	missense	probably benign	0.00
unkinked	UTSW	19	44299759	nonsense	probably null
R0012:Scd2	UTSW	19	44301246	missense	probably benign	0.00
R0366:Scd2	UTSW	19	44301246	missense	probably benign	0.00
R0368:Scd2	UTSW	19	44301246	missense	probably benign	0.00
R0373:Scd2	UTSW	19	44303040	missense	probably damaging	1.00
R1581:Scd2	UTSW	19	44298099	missense	probably benign	0.04
R2008:Scd2	UTSW	19	44303171	missense	probably benign	0.23
R2329:Scd2	UTSW	19	44298053	nonsense	probably null
R4755:Scd2	UTSW	19	44301352	missense	probably damaging	1.00
R4812:Scd2	UTSW	19	44301402	missense	probably damaging	1.00
R5024:Scd2	UTSW	19	44301271	missense	probably benign	0.02
R5568:Scd2	UTSW	19	44299703	missense	probably damaging	0.99
R5702:Scd2	UTSW	19	44298063	missense	possibly damaging	0.75
R6248:Scd2	UTSW	19	44303009	missense	probably damaging	1.00
R6377:Scd2	UTSW	19	44299759	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- TCATTGCAGATCTCTGGCGCTTAC -3'
(R):5'- CCCCATTCTTAACACCACGAGGTTC -3'

Sequencing Primer
(F):5'- CACTGGGGAGCAGATGTTCG -3'
(R):5'- AACACCACGAGGTTCTTTGC -3'

Posted On

2014-01-29