Mutagenetix > Incidental Mutation

Incidental Mutation 'R9527:Scd3'

719324

Institutional Source

Beutler Lab

Gene Symbol

Scd3

Ensembl Gene

ENSMUSG00000025202

Gene Name

stearoyl-coenzyme A desaturase 3

Synonyms

4930513N16Rik

MMRRC Submission

Accession Numbers

Essential gene?

Probably essential (E-score: 0.955) question?

Stock #

R9527 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

44191727-44232455 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 44226816 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 217 (Y217H)

Ref Sequence

ENSEMBL: ENSMUSP00000026220 (fasta)

Gene Model

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

AlphaFold

Q99PL7

Predicted Effect

probably benign
Transcript: ENSMUST00000026220
AA Change: Y217H

PolyPhen 2 Score 0.057 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000026220
Gene: ENSMUSG00000025202
AA Change: Y217H

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: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 33 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acoxl	A	G	2: 127,886,284 (GRCm39)	D453G	probably benign	Het
Aqr	A	C	2: 113,932,037 (GRCm39)	S1443R	probably benign	Het
Atr	T	C	9: 95,767,429 (GRCm39)	M1162T	probably damaging	Het
Bicdl1	T	A	5: 115,811,188 (GRCm39)	N241I	possibly damaging	Het
Catip	A	G	1: 74,401,637 (GRCm39)	N38S	probably benign	Het
Cct6b	A	G	11: 82,630,447 (GRCm39)		probably null	Het
Clspn	A	T	4: 126,453,792 (GRCm39)	R72*	probably null	Het
Cntln	A	G	4: 84,892,120 (GRCm39)	Q335R	probably damaging	Het
Col9a2	T	C	4: 120,899,528 (GRCm39)		probably null	Het
Dip2c	A	G	13: 9,544,875 (GRCm39)	N55D	unknown	Het
Dnajc5b	A	T	3: 19,633,248 (GRCm39)	D157V	probably damaging	Het
Exoc6	T	G	19: 37,558,987 (GRCm39)	D86E	probably benign	Het
Fam204a	A	T	19: 60,208,992 (GRCm39)	H87Q	probably damaging	Het
Fer1l4	A	G	2: 155,871,617 (GRCm39)	W1388R	probably damaging	Het
Hcn2	A	T	10: 79,570,706 (GRCm39)	I642F	probably benign	Het
Igsf9	C	A	1: 172,323,244 (GRCm39)	L653M	probably damaging	Het
Imp4	A	G	1: 34,481,991 (GRCm39)	E38G	probably benign	Het
Kirrel1	C	A	3: 86,996,912 (GRCm39)	E297*	probably null	Het
Krt82	G	A	15: 101,454,558 (GRCm39)	T222I	probably benign	Het
Lysmd1	T	C	3: 95,042,156 (GRCm39)	L10P	probably benign	Het
Mcmbp	A	G	7: 128,305,242 (GRCm39)	S509P	probably damaging	Het
Mms19	A	T	19: 41,952,830 (GRCm39)	I93N	possibly damaging	Het
Mtmr7	A	G	8: 41,011,345 (GRCm39)	F402L	possibly damaging	Het
Myo1h	C	T	5: 114,453,098 (GRCm39)	R49C		Het
Snx17	T	C	5: 31,353,826 (GRCm39)	Y205H	probably damaging	Het
Spag17	T	A	3: 99,970,777 (GRCm39)	D1320E	probably damaging	Het
Tasor2	A	T	13: 3,635,191 (GRCm39)	S539T	possibly damaging	Het
Xirp1	C	A	9: 119,847,558 (GRCm39)	V442L	probably damaging	Het
Xrcc5	G	A	1: 72,369,091 (GRCm39)	R315H	probably damaging	Het
Yju2b	A	T	8: 84,989,652 (GRCm39)	C56S	probably damaging	Het
Zc3hav1	C	A	6: 38,330,913 (GRCm39)	C82F	probably damaging	Het
Zfp787	A	G	7: 6,136,027 (GRCm39)	F75L	probably damaging	Het
Zswim3	C	T	2: 164,662,285 (GRCm39)	T255I	probably damaging	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
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
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'- GGACAATCTCTGCTCAACACAG -3'
(R):5'- AAGGAAACCAGGGCATTCTG -3'

Sequencing Primer
(F):5'- TTTAATCCCAGCACTCGGGAG -3'
(R):5'- CATTCTGCCGGGGATCGATG -3'

Posted On

2022-07-18