Mutagenetix > Incidental Mutation

Incidental Mutation 'R9597:Scd2'

723358

Institutional Source

Beutler Lab

Gene Symbol

Scd2

Ensembl Gene

ENSMUSG00000025203

Gene Name

stearoyl-Coenzyme A desaturase 2

Synonyms

Scd-2

MMRRC Submission

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9597 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

44282115-44295303 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 44288246 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Lysine at position 213 (Q213K)

Ref Sequence

ENSEMBL: ENSMUSP00000026221 (fasta)

Gene Model

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

AlphaFold

P13011

Predicted Effect

probably damaging
Transcript: ENSMUST00000026221
AA Change: Q213K

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000026221
Gene: ENSMUSG00000025203
AA Change: Q213K

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: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

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: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc9	T	C	6: 142,578,813 (GRCm39)	E952G	possibly damaging	Het
Abhd12	T	C	2: 150,688,198 (GRCm39)	I170V	probably benign	Het
Ankmy1	A	G	1: 92,804,773 (GRCm39)	V840A		Het
Arhgap18	T	A	10: 26,788,655 (GRCm39)	V589D	probably damaging	Het
Armc7	A	G	11: 115,379,712 (GRCm39)	T137A	probably benign	Het
Bcl9	A	T	3: 97,117,323 (GRCm39)	I457K	probably benign	Het
Ccdc148	A	T	2: 58,893,397 (GRCm39)	Y78N	probably benign	Het
Ccdc24	A	G	4: 117,729,348 (GRCm39)	V43A	probably damaging	Het
Cep68	G	A	11: 20,188,506 (GRCm39)	T633I	probably benign	Het
Cfap157	T	C	2: 32,669,753 (GRCm39)	I277V	probably benign	Het
Clec4a2	C	A	6: 123,116,291 (GRCm39)	A152E	probably benign	Het
Crocc2	G	T	1: 93,118,217 (GRCm39)	C380F	probably benign	Het
Cyp2ab1	A	T	16: 20,135,340 (GRCm39)	M54K	probably benign	Het
Fbn1	C	A	2: 125,187,906 (GRCm39)	R1541L	probably benign	Het
Fem1c	G	T	18: 46,638,362 (GRCm39)	L547I	probably damaging	Het
Firrm	A	T	1: 163,804,340 (GRCm39)	L331Q	probably null	Het
Fras1	A	G	5: 96,888,551 (GRCm39)	D2699G	probably damaging	Het
Inpp5f	A	C	7: 128,278,515 (GRCm39)	D435A	possibly damaging	Het
Kcnn2	T	C	18: 45,816,149 (GRCm39)	V460A	probably benign	Het
Krt81	T	C	15: 101,358,919 (GRCm39)	I278V	probably benign	Het
Lrp2	T	A	2: 69,260,703 (GRCm39)	E4509D	probably benign	Het
Mfsd14b	C	A	13: 65,221,414 (GRCm39)	V293L	probably benign	Het
Myh2	G	A	11: 67,064,302 (GRCm39)	D86N	possibly damaging	Het
Naip6	T	C	13: 100,436,646 (GRCm39)	I626V	probably benign	Het
Neto1	T	C	18: 86,422,821 (GRCm39)	S93P	possibly damaging	Het
Obscn	G	T	11: 59,027,009 (GRCm39)	R65S	probably benign	Het
Or52e8	A	G	7: 104,624,413 (GRCm39)	F264L	probably benign	Het
Pcdh7	A	G	5: 57,877,197 (GRCm39)	T251A	possibly damaging	Het
Pramel15	A	T	4: 144,103,526 (GRCm39)	V200E	probably damaging	Het
Prdm14	T	C	1: 13,192,657 (GRCm39)	K361E	possibly damaging	Het
Rgs2	A	G	1: 143,877,826 (GRCm39)	F125L	probably damaging	Het
Slc23a2	C	A	2: 131,904,098 (GRCm39)	R454L	probably damaging	Het
Smg1	T	C	7: 117,812,270 (GRCm39)	D31G	unknown	Het
Spata7	T	A	12: 98,600,559 (GRCm39)	N57K	probably damaging	Het
Spef2	T	C	15: 9,599,897 (GRCm39)	M1983V	unknown	Het
Srcap	G	T	7: 127,121,219 (GRCm39)	R184L	possibly damaging	Het
Tafa4	A	G	6: 96,991,429 (GRCm39)	W7R	probably benign	Het
Tbpl2	A	G	2: 23,977,296 (GRCm39)	S241P	probably damaging	Het
Tcaim	A	G	9: 122,637,830 (GRCm39)		probably null	Het
Tep1	G	T	14: 51,100,465 (GRCm39)	A351E	probably damaging	Het
Tiparp	A	G	3: 65,438,701 (GRCm39)	T6A	probably benign	Het
Tmem62	T	C	2: 120,829,567 (GRCm39)	F437L	probably benign	Het
Tpp1	A	T	7: 105,396,714 (GRCm39)	H434Q	probably benign	Het
Vmn2r17	A	G	5: 109,575,669 (GRCm39)	Y180C	probably damaging	Het
Vmn2r52	A	T	7: 9,904,719 (GRCm39)	Y373*	probably null	Het
Vwa1	G	A	4: 155,857,336 (GRCm39)	P154L	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
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

Predicted Primers

PCR Primer
(F):5'- AATGACGTGTATGAATGGGCCC -3'
(R):5'- CGCACGGAGGAAAATAGGTTTC -3'

Sequencing Primer
(F):5'- TATGAATGGGCCCGAGATCACC -3'
(R):5'- GCAGACAGTGTAAACTGTAC -3'

Posted On

2022-08-09