Mutagenetix > Incidental Mutations

Incidental Mutation 'R0012:Scd2'

32599

Institutional Source

Beutler Lab

Gene Symbol

Scd2

Ensembl Gene

ENSMUSG00000025203

Gene Name

stearoyl-Coenzyme A desaturase 2

Synonyms

Scd-2

MMRRC Submission

038307-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R0012 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

44293676-44306864 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 44301246 bp

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]

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: 99.3%
3x: 98.7%
10x: 97.3%
20x: 95.7%

Validation Efficiency

98% (81/83)

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: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam33	A	T	2: 131,052,920	L687Q	probably damaging	Het
Adap1	A	G	5: 139,307,734		probably benign	Het
Add2	T	A	6: 86,098,628	V253E	probably damaging	Het
Agtr1a	A	T	13: 30,381,749	I266F	probably damaging	Het
Anxa9	A	G	3: 95,308,095		probably benign	Het
Arap2	G	A	5: 62,683,484	L680F	probably damaging	Het
Asna1	T	C	8: 85,025,096		probably benign	Het
Bnip3	A	G	7: 138,898,672		probably benign	Het
Brwd1	A	C	16: 96,059,652	S311R	probably damaging	Het
C2cd3	G	A	7: 100,418,522	V871M	possibly damaging	Het
Cacul1	A	G	19: 60,564,253	W145R	probably damaging	Het
Celf5	C	A	10: 81,469,512	V141L	probably damaging	Het
Cfap206	C	A	4: 34,714,519	L392F	possibly damaging	Het
Chd2	G	T	7: 73,455,519	T192K	probably damaging	Het
Chrna10	T	C	7: 102,115,057	N40S	possibly damaging	Het
Cic	T	A	7: 25,287,140	S1299T	probably damaging	Het
Cic	C	A	7: 25,287,141	S1299Y	probably damaging	Het
Clspn	T	A	4: 126,564,929		probably benign	Het
Clstn1	G	A	4: 149,634,796	V361M	probably damaging	Het
Col5a3	A	T	9: 20,777,108		probably benign	Het
Copb1	T	A	7: 114,237,408	K366N	probably damaging	Het
Cul9	G	A	17: 46,538,510	R570C	probably benign	Het
Cyp2c70	A	T	19: 40,187,243	L7Q	probably null	Het
Dock2	T	C	11: 34,783,795	E10G	possibly damaging	Het
Dpysl4	T	G	7: 139,097,883	I412S	probably benign	Het
Eaf2	T	A	16: 36,808,174		probably benign	Het
Fasl	T	C	1: 161,788,164	D41G	probably benign	Het
Fat2	A	G	11: 55,262,871	V3505A	probably benign	Het
Fbxo24	A	G	5: 137,621,994	F101S	probably damaging	Het
Fdft1	T	C	14: 63,177,698	I28M	probably benign	Het
Gcnt3	T	C	9: 70,034,085	I400M	probably benign	Het
Gpd2	T	A	2: 57,338,868	M228K	probably damaging	Het
Gsap	T	A	5: 21,226,229		probably benign	Het
Hipk1	A	G	3: 103,763,680	M467T	probably damaging	Het
Hmgb4	T	A	4: 128,260,725	I17F	probably damaging	Het
Ints10	C	A	8: 68,807,475	L284M	probably benign	Het
Kif17	T	G	4: 138,293,748	S606A	probably damaging	Het
Lifr	C	A	15: 7,175,608	T442K	possibly damaging	Het
Lypd4	A	G	7: 24,865,332	L127P	probably damaging	Het
Lyst	A	G	13: 13,687,694	H2605R	probably benign	Het
Map3k4	A	G	17: 12,238,189	S1289P	probably damaging	Het
Mgam	T	A	6: 40,765,256		probably null	Het
Mob1b	G	A	5: 88,756,084		probably benign	Het
Mrgpra1	A	G	7: 47,335,470	S154P	probably damaging	Het
Ms4a4c	C	A	19: 11,418,980		probably benign	Het
Mthfd2l	A	T	5: 90,961,383	H224L	probably damaging	Het
Myh8	T	C	11: 67,300,021	Y1350H	probably benign	Het
Nectin2	T	C	7: 19,730,744		probably benign	Het
Nos1	A	C	5: 117,893,902	N305T	probably damaging	Het
Ogfrl1	T	A	1: 23,370,125	Q340L	possibly damaging	Het
Olfr1318	A	T	2: 112,156,826	N292Y	possibly damaging	Het
Olfr1502	C	A	19: 13,861,823	T10K	probably damaging	Het
Olfr170	T	C	16: 19,606,440	N76S	probably benign	Het
Olfr427	T	G	1: 174,100,207	F250V	probably damaging	Het
Orc1	T	C	4: 108,595,646		probably null	Het
Plekhg5	C	A	4: 152,104,750	D249E	probably benign	Het
Plet1	A	G	9: 50,499,130	I74V	probably benign	Het
Psmd2	T	A	16: 20,661,684	D718E	probably damaging	Het
Rab33b	G	T	3: 51,484,316		probably benign	Het
Rae1	T	A	2: 173,002,673	F4I	unknown	Het
Ralgapa2	A	G	2: 146,412,752	Y821H	probably benign	Het
Sharpin	G	T	15: 76,348,343	P156T	possibly damaging	Het
Slc38a4	C	T	15: 96,999,629	R435H	probably damaging	Het
Snrnp200	T	C	2: 127,228,549	V1061A	probably benign	Het
Suclg1	A	G	6: 73,270,997	T234A	possibly damaging	Het
Swsap1	T	C	9: 21,957,022	C197R	probably benign	Het
Tbx15	A	G	3: 99,352,096	T428A	probably benign	Het
Tet2	T	C	3: 133,476,558	Y1215C	probably damaging	Het
Tjp1	A	G	7: 65,329,775		probably benign	Het
Tmem209	G	T	6: 30,502,113		probably benign	Het
Tnpo3	T	C	6: 29,589,177	E58G	probably damaging	Het
Trp53bp2	T	A	1: 182,444,718	M464K	probably damaging	Het
Ttc32	A	G	12: 9,035,897	Y148C	possibly damaging	Het
Unc80	T	C	1: 66,507,391	S541P	probably damaging	Het
Ushbp1	T	C	8: 71,395,040		probably benign	Het
Vmn2r100	A	G	17: 19,504,874	M22V	probably benign	Het
Vmn2r100	A	T	17: 19,526,034	E485V	probably damaging	Het
Wdr24	G	A	17: 25,827,113	V471I	probably benign	Het
Zfp35	T	A	18: 24,002,944	M115K	probably benign	Het
Zfp429	G	A	13: 67,390,677	S216L	probably benign	Het
Zfp644	T	G	5: 106,635,043	E1155A	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
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
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

Predicted Primers

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

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

Posted On

2013-05-09