Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02016:Scd1'

183756

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Scd1

Ensembl Gene

ENSMUSG00000037071

Gene Name

stearoyl-Coenzyme A desaturase 1

Synonyms

SCD, stearoyl-CoA desaturase, Scd-1

Accession Numbers

Essential gene?

Probably essential (E-score: 0.949) question?

Stock #

IGL02016

Quality Score

Status

Chromosome

Chromosomal Location

44382889-44396148 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 44388746 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Serine at position 235 (G235S)

Ref Sequence

ENSEMBL: ENSMUSP00000036936 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000041331]

AlphaFold

P13516

Predicted Effect

probably benign
Transcript: ENSMUST00000041331
AA Change: G235S

PolyPhen 2 Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000036936
Gene: ENSMUSG00000037071
AA Change: G235S

Domain	Start	End	E-Value	Type
low complexity region	9	20	N/A	INTRINSIC
transmembrane domain	67	89	N/A	INTRINSIC
Pfam:FA_desaturase	93	313	2.4e-17	PFAM

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an enzyme involved in fatty acid biosynthesis, primarily the synthesis of oleic acid. The protein belongs to the fatty acid desaturase family and is an integral membrane protein located in the endoplasmic reticulum. Transcripts of approximately 3.9 and 5.2 kb, differing only by alternative polyadenlyation signals, have been detected. A gene encoding a similar enzyme is located on chromosome 4 and a pseudogene of this gene is located on chromosome 17. [provided by RefSeq, Sep 2015]
PHENOTYPE: Homozygotes for targeted and spontaneous mutations exhibit alopecia, scaly skin, sebaceous gland hypoplasia, impaired ocular lubrication and synthesis and storage of triglycerides, higher lipid oxidation, reduced growth, and lower fertility in females. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810024B03Rik	C	A	2: 127,028,875 (GRCm39)	G108V	probably damaging	Het
A2ml1	T	C	6: 128,535,298 (GRCm39)	E804G	probably damaging	Het
Abcg4	G	A	9: 44,198,647 (GRCm39)	T35M	probably damaging	Het
Acad9	A	T	3: 36,142,635 (GRCm39)		probably null	Het
Adgrv1	T	C	13: 81,545,572 (GRCm39)	D5571G	probably damaging	Het
App	T	A	16: 84,853,409 (GRCm39)	D223V	unknown	Het
Arhgap30	A	G	1: 171,235,315 (GRCm39)	E563G	probably damaging	Het
Atp6v1e2	A	T	17: 87,251,822 (GRCm39)	V192D	probably damaging	Het
Atr	G	A	9: 95,809,228 (GRCm39)	V1969I	probably benign	Het
Bean1	T	C	8: 104,937,550 (GRCm39)	L43S	possibly damaging	Het
Cand1	A	G	10: 119,048,473 (GRCm39)	V436A	probably damaging	Het
Card6	T	C	15: 5,137,738 (GRCm39)	I39V	probably damaging	Het
Ccdc73	A	G	2: 104,805,961 (GRCm39)	T300A	probably benign	Het
Ccdc88c	T	C	12: 100,907,466 (GRCm39)	T962A	possibly damaging	Het
Chd6	G	T	2: 160,825,598 (GRCm39)	L1169I	probably damaging	Het
Chrna7	A	T	7: 62,753,583 (GRCm39)	V312E	probably damaging	Het
Dna2	A	G	10: 62,796,191 (GRCm39)	N540S	probably benign	Het
Elavl2	T	C	4: 91,149,172 (GRCm39)	E209G	probably damaging	Het
Elmo2	A	G	2: 165,136,932 (GRCm39)		probably null	Het
Fto	A	T	8: 92,393,034 (GRCm39)	R494*	probably null	Het
Garre1	A	G	7: 33,938,526 (GRCm39)	M791T	possibly damaging	Het
Gm9966	A	T	7: 95,608,014 (GRCm39)	T112S	unknown	Het
Gtf3c1	A	C	7: 125,267,211 (GRCm39)	I940S	probably damaging	Het
Hecw2	C	A	1: 53,870,702 (GRCm39)	Q1426H	possibly damaging	Het
Iars2	A	C	1: 185,035,503 (GRCm39)	L579R	probably damaging	Het
Ifih1	A	C	2: 62,437,328 (GRCm39)	M537R	probably benign	Het
Kcnmb4	A	G	10: 116,282,367 (GRCm39)		probably benign	Het
Large2	A	G	2: 92,199,888 (GRCm39)	V175A	possibly damaging	Het
Mad2l1bp	A	G	17: 46,464,428 (GRCm39)		probably benign	Het
Muc20	A	T	16: 32,617,722 (GRCm39)	F14Y	possibly damaging	Het
Myom2	A	G	8: 15,175,195 (GRCm39)	E1258G	probably benign	Het
Or8k28	A	T	2: 86,285,841 (GRCm39)	M258K	probably damaging	Het
Parp1	A	T	1: 180,426,516 (GRCm39)		probably null	Het
Pramel22	T	A	4: 143,381,889 (GRCm39)	E269V	possibly damaging	Het
Prkra	A	T	2: 76,473,653 (GRCm39)		probably null	Het
Ror2	C	T	13: 53,264,764 (GRCm39)	S764N	probably damaging	Het
Sdk1	A	G	5: 142,020,184 (GRCm39)	H654R	possibly damaging	Het
Sesn3	A	G	9: 14,231,633 (GRCm39)	Y188C	probably damaging	Het
Slc26a4	T	C	12: 31,585,666 (GRCm39)	M461V	probably damaging	Het
Slc28a2	A	G	2: 122,285,822 (GRCm39)	I439V	probably benign	Het
Smc5	T	A	19: 23,251,076 (GRCm39)	N36I	probably benign	Het
Smurf2	A	G	11: 106,713,504 (GRCm39)	F745S	probably damaging	Het
Spata22	A	G	11: 73,226,857 (GRCm39)	N65S	possibly damaging	Het
Tanc1	A	G	2: 59,673,934 (GRCm39)	T1680A	probably benign	Het
Tnxb	G	A	17: 34,891,249 (GRCm39)	V531M	probably damaging	Het
Trpm3	T	G	19: 22,879,433 (GRCm39)	Y727*	probably null	Het
Tssk1	A	T	16: 17,712,758 (GRCm39)	Y181F	probably damaging	Het
Ucp3	T	A	7: 100,129,766 (GRCm39)	V136E	probably damaging	Het
Uqcrfs1	A	C	13: 30,729,097 (GRCm39)	V45G	probably benign	Het
Uvrag	A	G	7: 98,748,649 (GRCm39)	I101T	probably benign	Het
Vmn1r206	A	T	13: 22,804,334 (GRCm39)	L291Q	probably damaging	Het
Wnk2	T	A	13: 49,210,381 (GRCm39)	I1813F	probably damaging	Het
Zbtb3	T	A	19: 8,780,579 (GRCm39)	V64E	probably damaging	Het
Zeb2	A	G	2: 44,878,886 (GRCm39)	I1115T	possibly damaging	Het
Zfp280b	C	T	10: 75,874,945 (GRCm39)	L275F	possibly damaging	Het

Other mutations in Scd1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00915:Scd1	APN	19	44,388,796 (GRCm39)	missense	possibly damaging	0.47
IGL01781:Scd1	APN	19	44,388,787 (GRCm39)	missense	possibly damaging	0.53
IGL02251:Scd1	APN	19	44,386,533 (GRCm39)	missense	probably damaging	1.00
copycat	UTSW	19	44,394,927 (GRCm39)	missense	probably benign
flake	UTSW	19	44,388,769 (GRCm39)	missense	probably damaging	1.00
R2182:Scd1	UTSW	19	44,391,732 (GRCm39)	missense	probably benign
R4635:Scd1	UTSW	19	44,395,024 (GRCm39)	missense	probably damaging	1.00
R5038:Scd1	UTSW	19	44,390,148 (GRCm39)	missense	probably damaging	0.97
R5511:Scd1	UTSW	19	44,395,198 (GRCm39)	missense	probably benign	0.31
R5965:Scd1	UTSW	19	44,388,579 (GRCm39)	critical splice donor site	probably null
R6746:Scd1	UTSW	19	44,394,927 (GRCm39)	missense	probably benign
R7133:Scd1	UTSW	19	44,395,034 (GRCm39)	missense	probably damaging	1.00
R7593:Scd1	UTSW	19	44,388,739 (GRCm39)	missense	probably benign	0.00
Z1088:Scd1	UTSW	19	44,386,362 (GRCm39)	missense	probably benign	0.28
Z1176:Scd1	UTSW	19	44,391,657 (GRCm39)	missense	probably damaging	1.00

Posted On

2014-05-07