Mutagenetix > Incidental Mutation

Incidental Mutation 'R5797:Scd3'

447303

Institutional Source

Beutler Lab

Gene Symbol

Scd3

Ensembl Gene

ENSMUSG00000025202

Gene Name

stearoyl-coenzyme A desaturase 3

Synonyms

4930513N16Rik

MMRRC Submission

043209-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.955) question?

Stock #

R5797 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

44191727-44232455 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 44203950 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 46 (I46T)

Ref Sequence

ENSEMBL: ENSMUSP00000026220 (fasta)

Gene Model

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

AlphaFold

Q99PL7

Predicted Effect

probably benign
Transcript: ENSMUST00000026220
AA Change: I46T

PolyPhen 2 Score 0.099 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000026220
Gene: ENSMUSG00000025202
AA Change: I46T

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

1x: 99.4%
3x: 98.8%
10x: 97.7%
20x: 96.3%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd18	T	C	3: 40,887,986 (GRCm39)	F277L	probably benign	Het
Acsf2	A	G	11: 94,462,505 (GRCm39)	V170A	probably damaging	Het
Amz2	G	T	11: 109,317,905 (GRCm39)		probably benign	Het
Atp4a	A	G	7: 30,412,074 (GRCm39)	Y65C	probably damaging	Het
Canx	T	C	11: 50,191,844 (GRCm39)	I356V	probably benign	Het
Cfap54	T	A	10: 92,803,438 (GRCm39)	T1535S	probably benign	Het
Cts3	A	T	13: 61,716,206 (GRCm39)	W52R	probably damaging	Het
Cyb5rl	A	T	4: 106,941,404 (GRCm39)	E276D	possibly damaging	Het
Dhx30	T	C	9: 109,927,888 (GRCm39)	N78S	probably damaging	Het
Dmap1	A	T	4: 117,532,677 (GRCm39)	V333E	possibly damaging	Het
Dnah10	A	G	5: 124,898,450 (GRCm39)	E3744G	probably benign	Het
Efcab6	C	T	15: 83,808,478 (GRCm39)	C828Y	possibly damaging	Het
Fam227b	A	C	2: 125,849,254 (GRCm39)	I326S	probably benign	Het
Fbrs	C	A	7: 127,086,463 (GRCm39)	H604Q	probably damaging	Het
Fshr	T	G	17: 89,318,503 (GRCm39)	N129T	probably damaging	Het
Gja3	T	C	14: 57,273,170 (GRCm39)	R401G	probably damaging	Het
Gm572	G	A	4: 148,751,255 (GRCm39)	M209I	probably benign	Het
Gne	G	A	4: 44,060,030 (GRCm39)	T121M	probably damaging	Het
Gnmt	T	C	17: 47,037,305 (GRCm39)	N160D	probably damaging	Het
Kalrn	T	C	16: 34,032,619 (GRCm39)	Y1125C	probably damaging	Het
Kif2a	A	T	13: 107,111,884 (GRCm39)	C524S	probably damaging	Het
Kl	A	G	5: 150,915,003 (GRCm39)	N910S	possibly damaging	Het
Lrrtm2	C	T	18: 35,346,759 (GRCm39)	R181H	probably damaging	Het
Mkln1	A	G	6: 31,410,004 (GRCm39)	D214G	probably benign	Het
Muc5b	C	A	7: 141,405,319 (GRCm39)	T909N	unknown	Het
Myh13	T	A	11: 67,225,828 (GRCm39)	D335E	possibly damaging	Het
Myo5b	A	G	18: 74,834,592 (GRCm39)	E884G	probably benign	Het
Naip1	T	C	13: 100,581,034 (GRCm39)	D71G	possibly damaging	Het
Nxpe4	T	A	9: 48,307,838 (GRCm39)	I314N	possibly damaging	Het
Pcnt	T	C	10: 76,228,590 (GRCm39)	E1525G	probably benign	Het
Pkd1	T	A	17: 24,811,615 (GRCm39)	H153Q	possibly damaging	Het
Prkdc	T	A	16: 15,555,698 (GRCm39)	Y2157*	probably null	Het
Sdha	A	T	13: 74,482,476 (GRCm39)	M279K	probably damaging	Het
Slco4c1	A	G	1: 96,746,829 (GRCm39)	V671A	probably benign	Het
Slitrk3	T	A	3: 72,955,962 (GRCm39)	T937S	probably damaging	Het
Sncaip	A	T	18: 53,031,276 (GRCm39)	T442S	probably benign	Het
Sptb	T	C	12: 76,650,473 (GRCm39)	D1748G	possibly damaging	Het
Trmt9b	A	T	8: 36,965,569 (GRCm39)	K30*	probably null	Het
Vmn2r12	A	T	5: 109,233,736 (GRCm39)	C825*	probably null	Het

Other mutations in Scd3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00507:Scd3	APN	19	44,224,273 (GRCm39)	missense	probably damaging	1.00
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
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

Predicted Primers

PCR Primer
(F):5'- GCCTTAATTAAGCCAGACCCTG -3'
(R):5'- ACTTACCGAAGAGGCAGGTG -3'

Sequencing Primer
(F):5'- GGATTGGACCTCTAATGCACCCTAG -3'
(R):5'- AGGCAGGTGTAGAGCTTGC -3'

Posted On

2016-12-15