Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01105:Scd2'

53251

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 #

IGL01105

Quality Score

Status

Chromosome

Chromosomal Location

44282115-44295303 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 44286497 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 109 (I109N)

Ref Sequence

ENSEMBL: ENSMUSP00000026221 (fasta)

Gene Model

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

AlphaFold

P13011

Predicted Effect

probably benign
Transcript: ENSMUST00000026221
AA Change: I109N

PolyPhen 2 Score 0.380 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000026221
Gene: ENSMUSG00000025203
AA Change: I109N

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: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ace	T	A	11: 105,862,885 (GRCm39)	V302E	probably damaging	Het
Ahcy	T	C	2: 154,909,281 (GRCm39)	D86G	probably benign	Het
Antxr2	G	T	5: 98,152,802 (GRCm39)		probably benign	Het
Cadps2	A	G	6: 23,321,699 (GRCm39)		probably benign	Het
Cdhr4	C	T	9: 107,873,060 (GRCm39)		probably benign	Het
Cdkn2c	C	T	4: 109,518,823 (GRCm39)	V44I	probably damaging	Het
Chodl	T	C	16: 78,738,151 (GRCm39)	Y40H	probably damaging	Het
Heatr3	A	G	8: 88,888,521 (GRCm39)	D391G	probably benign	Het
Hephl1	T	C	9: 15,000,320 (GRCm39)	T311A	possibly damaging	Het
Itpr1	G	A	6: 108,358,294 (GRCm39)	S620N	probably benign	Het
Kank1	T	A	19: 25,401,680 (GRCm39)	S1096T	possibly damaging	Het
Kank3	G	A	17: 34,036,375 (GRCm39)	G81E	probably damaging	Het
Krtap9-5	A	G	11: 99,839,459 (GRCm39)	I53M	unknown	Het
Limk2	G	A	11: 3,305,475 (GRCm39)		probably benign	Het
Lrig2	G	A	3: 104,371,484 (GRCm39)	R382*	probably null	Het
Mamdc2	T	A	19: 23,308,366 (GRCm39)	D512V	probably benign	Het
Marchf1	A	T	8: 66,871,529 (GRCm39)	T353S	possibly damaging	Het
Mrc2	A	G	11: 105,219,567 (GRCm39)	D312G	probably damaging	Het
Myh9	C	T	15: 77,665,678 (GRCm39)	M627I	probably benign	Het
Nipa2	A	T	7: 55,583,193 (GRCm39)	I184N	probably damaging	Het
Npy1r	A	G	8: 67,157,428 (GRCm39)	K246R	probably benign	Het
Pank4	C	T	4: 155,056,922 (GRCm39)		probably benign	Het
Pcdh12	T	A	18: 38,408,400 (GRCm39)	E1035D	probably damaging	Het
Pias2	T	A	18: 77,220,852 (GRCm39)	D362E	probably damaging	Het
Pkd1l3	G	T	8: 110,388,873 (GRCm39)	V1872L	possibly damaging	Het
Postn	T	G	3: 54,270,131 (GRCm39)	I70S	probably damaging	Het
Ppef2	A	G	5: 92,397,055 (GRCm39)	S107P	possibly damaging	Het
Prl3c1	T	C	13: 27,386,408 (GRCm39)	V131A	probably benign	Het
Qsox2	A	G	2: 26,099,697 (GRCm39)	V609A	probably benign	Het
Rhebl1	C	A	15: 98,776,379 (GRCm39)	E139D	probably benign	Het
Ryr3	A	G	2: 112,582,150 (GRCm39)	S2848P	probably damaging	Het
Sim1	A	G	10: 50,857,630 (GRCm39)	H460R	probably damaging	Het
Slc35f3	C	A	8: 127,025,553 (GRCm39)	P10Q	probably damaging	Het
Slf1	T	C	13: 77,249,031 (GRCm39)		probably benign	Het
Stk10	G	T	11: 32,527,740 (GRCm39)	V163L	probably benign	Het
Tssk6	A	G	8: 70,355,462 (GRCm39)	T169A	probably benign	Het
Usp28	T	A	9: 48,921,550 (GRCm39)	V256E	probably damaging	Het
Vmn2r77	A	T	7: 86,460,872 (GRCm39)	I733F	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
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

2013-06-21