Mutagenetix > Incidental Mutation

Incidental Mutation 'R0368:Scd2'

30350

Institutional Source

Beutler Lab

Gene Symbol

Scd2

Ensembl Gene

ENSMUSG00000025203

Gene Name

stearoyl-Coenzyme A desaturase 2

Synonyms

Scd-2

MMRRC Submission

038574-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0368 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

44293676-44306864 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 44301246 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 227 (V227I)

Ref Sequence

ENSEMBL: ENSMUSP00000026221 (fasta)

Gene Model

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

AlphaFold

P13011

Predicted Effect

probably benign
Transcript: ENSMUST00000026221
AA Change: V227I

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000026221
Gene: ENSMUSG00000025203
AA Change: V227I

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000175574

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.1%
3x: 98.1%
10x: 95.7%
20x: 90.5%

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ahnak	A	T	19: 9,008,350	K2333*	probably null	Het
Aox4	C	T	1: 58,213,079	L38F	probably benign	Het
Arhgef15	T	C	11: 68,954,693	E111G	probably damaging	Het
Atp8a2	A	T	14: 59,860,212	I789N	probably damaging	Het
Cdca2	A	G	14: 67,700,347	S286P	possibly damaging	Het
Chrnb1	T	A	11: 69,784,757	K457M	probably damaging	Het
Clec2g	A	G	6: 128,980,261	I61V	possibly damaging	Het
Cyb5r3	G	A	15: 83,158,792	A233V	probably benign	Het
Cyp4a10	T	A	4: 115,525,377	L278*	probably null	Het
Dnmt1	T	C	9: 20,941,757	E56G	probably damaging	Het
Fam160b1	A	G	19: 57,368,578	T34A	possibly damaging	Het
Fam166a	T	A	2: 25,220,673	D164E	probably benign	Het
Fbln5	A	G	12: 101,809,714		probably null	Het
G3bp1	T	C	11: 55,498,626	F383L	probably damaging	Het
Gabrr3	A	G	16: 59,440,596	D289G	probably damaging	Het
Gpr45	T	C	1: 43,033,016	L273P	probably damaging	Het
Hkdc1	T	C	10: 62,411,707	E125G	probably null	Het
Il25	A	G	14: 54,935,174		probably null	Het
Itfg1	A	T	8: 85,764,407	W298R	probably damaging	Het
Kank1	A	T	19: 25,410,603	K547*	probably null	Het
Lama5	G	A	2: 180,181,230	R2748*	probably null	Het
Lrp4	C	T	2: 91,477,734	T508I	probably damaging	Het
Map3k10	C	T	7: 27,663,360	V434I	probably damaging	Het
Map3k6	A	G	4: 133,252,659	M1265V	probably benign	Het
Mocs3	C	T	2: 168,231,682	P350S	probably benign	Het
Msh4	T	A	3: 153,888,825	Y113F	probably damaging	Het
Naip2	A	C	13: 100,161,782	I582S	probably benign	Het
Nrip1	A	G	16: 76,294,016	S218P	probably damaging	Het
Olfr1281	T	C	2: 111,328,787	Y123H	probably damaging	Het
Olfr1287	T	C	2: 111,449,788	I216T	probably benign	Het
Olig1	C	T	16: 91,270,652	S259F	probably damaging	Het
Osbpl9	A	G	4: 109,066,932	V499A	probably damaging	Het
Pafah2	T	C	4: 134,422,491	V371A	probably benign	Het
Pkp1	T	A	1: 135,875,683	M712L	probably benign	Het
Pkp1	T	C	1: 135,886,852	S244G	probably benign	Het
Ppp1r3a	T	C	6: 14,718,960	T652A	probably benign	Het
Rab21	A	T	10: 115,298,890	V108E	probably damaging	Het
Rab5b	C	T	10: 128,682,903	R120Q	probably benign	Het
Sema5b	T	A	16: 35,628,100	V82E	probably damaging	Het
Sema6a	G	A	18: 47,290,045		probably null	Het
Slc13a2	A	T	11: 78,404,800	L80*	probably null	Het
Slc1a5	C	T	7: 16,782,178	P93L	probably damaging	Het
Slc35b2	T	C	17: 45,566,463	V172A	probably benign	Het
Slfn8	A	G	11: 83,017,132	L195P	probably damaging	Het
Smox	G	A	2: 131,522,158	S320N	probably damaging	Het
Sptan1	T	C	2: 29,993,915	V589A	probably benign	Het
Stim2	G	A	5: 54,110,140		probably null	Het
V1ra8	A	G	6: 90,202,962	D49G	probably damaging	Het
Vmn1r233	A	T	17: 20,994,607	V27D	possibly damaging	Het
Vmn2r98	A	T	17: 19,065,827	K196*	probably null	Het
Wdr77	T	C	3: 105,962,066		probably null	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
R0373:Scd2	UTSW	19	44303040	missense	probably damaging	1.00
R1282:Scd2	UTSW	19	44295181	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
R8422:Scd2	UTSW	19	44301304	missense	probably benign	0.00
R8424:Scd2	UTSW	19	44301304	missense	probably benign	0.00
R8735:Scd2	UTSW	19	44301304	missense	probably benign	0.00
R9597:Scd2	UTSW	19	44299807	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGGGTCATCTACTGCATCCATCTCC -3'
(R):5'- AGGTCCCATCACAGGCACATTTTC -3'

Sequencing Primer
(F):5'- GAGCTAACAGCACTTGCTCTC -3'
(R):5'- TGGAAACCAAGATGTTCTCCCG -3'

Posted On

2013-04-24