Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00507:Scd3'

5656

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Scd3

Ensembl Gene

ENSMUSG00000025202

Gene Name

stearoyl-coenzyme A desaturase 3

Synonyms

4930513N16Rik

Accession Numbers

Essential gene?

Probably essential (E-score: 0.955) question?

Stock #

IGL00507

Quality Score

Status

Chromosome

Chromosomal Location

44191727-44232455 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 44224273 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Asparagine at position 169 (D169N)

Ref Sequence

ENSEMBL: ENSMUSP00000026220 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000026220]

AlphaFold

Q99PL7

Predicted Effect

probably damaging
Transcript: ENSMUST00000026220
AA Change: D169N

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

SMART Domains

Protein: ENSMUSP00000026220
Gene: ENSMUSG00000025202
AA Change: D169N

Domain	Start	End	E-Value	Type
low complexity region	11	27	N/A	INTRINSIC
transmembrane domain	71	93	N/A	INTRINSIC
Pfam:FA_desaturase	97	316	1.9e-17	PFAM

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 29 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsbg1	C	T	9: 54,529,712 (GRCm39)		probably benign	Het
Adgrb3	T	A	1: 25,113,796 (GRCm39)	R1450S	possibly damaging	Het
Apc	A	G	18: 34,449,979 (GRCm39)	I2258V	probably benign	Het
Atxn2l	C	A	7: 126,095,756 (GRCm39)	A374S	possibly damaging	Het
Cacna1a	T	A	8: 85,297,837 (GRCm39)	Y1182*	probably null	Het
Cc2d1b	G	T	4: 108,486,927 (GRCm39)	A647S	probably damaging	Het
Csn2	A	G	5: 87,842,632 (GRCm39)	S116P	probably benign	Het
Eya4	G	A	10: 23,033,434 (GRCm39)	Q163*	probably null	Het
Fam47c	A	T	X: 77,781,931 (GRCm39)	D171V	probably benign	Het
Fhdc1	A	T	3: 84,356,107 (GRCm39)	C446S	probably damaging	Het
Fkbp9	T	A	6: 56,827,686 (GRCm39)	V169E	probably damaging	Het
Fras1	A	T	5: 96,926,048 (GRCm39)	I3751F	probably damaging	Het
Gkn1	T	C	6: 87,323,321 (GRCm39)	Y164C	probably damaging	Het
Hs3st5	T	C	10: 36,708,918 (GRCm39)	I151T	probably benign	Het
Ighv8-6	A	T	12: 115,129,472 (GRCm39)	S95T	probably damaging	Het
Loxhd1	A	G	18: 77,420,263 (GRCm39)	I296V	probably benign	Het
Lrrc66	T	C	5: 73,764,457 (GRCm39)	E862G	probably benign	Het
Ltbp3	T	C	19: 5,806,044 (GRCm39)	V934A	probably damaging	Het
Mpp3	A	T	11: 101,892,929 (GRCm39)	I501K	possibly damaging	Het
Mroh2b	C	T	15: 4,991,609 (GRCm39)	T1569I	probably damaging	Het
Nup133	A	T	8: 124,645,706 (GRCm39)	Y626*	probably null	Het
Pak3	T	A	X: 142,572,329 (GRCm39)	N477K	probably damaging	Het
Plod3	A	G	5: 137,025,030 (GRCm39)	H714R	possibly damaging	Het
Ppil1	T	C	17: 29,470,675 (GRCm39)	N102S	probably damaging	Het
Rapgef6	A	T	11: 54,554,935 (GRCm39)	R996*	probably null	Het
Sgo2a	T	A	1: 58,055,753 (GRCm39)	F646I	probably damaging	Het
Slc5a8	A	G	10: 88,743,902 (GRCm39)	Y346C	possibly damaging	Het
Slc7a15	A	T	12: 8,585,474 (GRCm39)	V49E	probably damaging	Het
Stard8	G	A	X: 98,112,941 (GRCm39)	E649K	probably damaging	Het

Other mutations in Scd3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00850:Scd3	APN	19	44,224,247 (GRCm39)	missense	probably damaging	1.00
IGL02207:Scd3	APN	19	44,204,028 (GRCm39)	missense	possibly damaging	0.60
R0054:Scd3	UTSW	19	44,204,076 (GRCm39)	missense	probably damaging	1.00
R1820:Scd3	UTSW	19	44,230,245 (GRCm39)	missense	probably benign	0.00
R1847:Scd3	UTSW	19	44,224,281 (GRCm39)	missense	probably damaging	1.00
R1944:Scd3	UTSW	19	44,224,219 (GRCm39)	missense	probably benign	0.16
R1945:Scd3	UTSW	19	44,224,219 (GRCm39)	missense	probably benign	0.16
R3834:Scd3	UTSW	19	44,230,156 (GRCm39)	missense	probably damaging	1.00
R4551:Scd3	UTSW	19	44,203,878 (GRCm39)	missense	probably benign	0.00
R5797:Scd3	UTSW	19	44,203,950 (GRCm39)	missense	probably benign	0.10
R7921:Scd3	UTSW	19	44,224,331 (GRCm39)	missense	possibly damaging	0.83
R7978:Scd3	UTSW	19	44,222,688 (GRCm39)	nonsense	probably null
R8247:Scd3	UTSW	19	44,227,003 (GRCm39)	missense	possibly damaging	0.53
R8886:Scd3	UTSW	19	44,230,276 (GRCm39)	missense	probably damaging	0.99
R9057:Scd3	UTSW	19	44,224,340 (GRCm39)	missense	probably damaging	0.99
R9527:Scd3	UTSW	19	44,226,816 (GRCm39)	missense	probably benign	0.06
X0026:Scd3	UTSW	19	44,222,757 (GRCm39)	missense	probably benign	0.01
Z1176:Scd3	UTSW	19	44,224,315 (GRCm39)	missense	probably damaging	1.00

Posted On

2012-04-20