Mutagenetix > Incidental Mutation

Incidental Mutation 'R5018:Scd4'

389076

Institutional Source

Beutler Lab

Gene Symbol

Scd4

Ensembl Gene

ENSMUSG00000050195

Gene Name

stearoyl-coenzyme A desaturase 4

Synonyms

MMRRC Submission

042609-MU

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.944) question?

Stock #

R5018 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

44333092-44346743 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 44337609 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 134 (M134K)

Ref Sequence

ENSEMBL: ENSMUSP00000059860 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000058856]

AlphaFold

Q6T707

Predicted Effect

probably benign
Transcript: ENSMUST00000058856
AA Change: M134K

PolyPhen 2 Score 0.089 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000059860
Gene: ENSMUSG00000050195
AA Change: M134K

Domain	Start	End	E-Value	Type
transmembrane domain	65	87	N/A	INTRINSIC
Pfam:FA_desaturase	91	311	7e-17	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000133314

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.7%
20x: 93.8%

Validation Efficiency

98% (49/50)

Allele List at MGI

Other mutations in this stock

Total: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamdec1	A	T	14: 68,571,779	F245I	probably damaging	Het
Agbl5	G	A	5: 30,903,059	R141Q	probably damaging	Het
Als2cr12	A	G	1: 58,690,950	V67A	probably benign	Het
Alx4	G	T	2: 93,677,419	G353V	probably damaging	Het
Apol7b	A	G	15: 77,424,716	F61L	probably benign	Het
Aunip	T	A	4: 134,523,617		probably null	Het
Bfsp1	C	A	2: 143,862,882	R17L	possibly damaging	Het
Birc6	T	A	17: 74,640,059	D2926E	probably damaging	Het
Dmwd	A	G	7: 19,078,119	D166G	probably damaging	Het
Dnah10	T	C	5: 124,762,196	S1233P	possibly damaging	Het
Dnah11	G	T	12: 118,130,728	N868K	probably benign	Het
Eea1	T	C	10: 96,011,037	V393A	probably benign	Het
Fchsd1	C	T	18: 37,959,873		probably benign	Het
Fyttd1	A	G	16: 32,902,417		probably null	Het
Hal	T	C	10: 93,507,551		probably null	Het
Hhat	A	T	1: 192,595,038	L371Q	probably damaging	Het
Hpse2	A	G	19: 43,384,824	F122S	possibly damaging	Het
Kif21b	A	G	1: 136,172,234	I1509V	probably benign	Het
Klhl20	T	C	1: 161,101,586	D334G	probably damaging	Het
Macf1	C	T	4: 123,385,599	D3870N	probably damaging	Het
Nlrc5	C	T	8: 94,525,452	A1867V	probably damaging	Het
Nr1h5	A	G	3: 102,947,795	L330P	probably damaging	Het
Olfr1513	A	C	14: 52,349,279	C256G	possibly damaging	Het
Pcdh15	T	G	10: 74,643,775	S573A	possibly damaging	Het
Polr1c	G	T	17: 46,247,709		probably benign	Het
Sh3gl2	A	G	4: 85,391,054		probably benign	Het
Sin3a	T	A	9: 57,110,891	S865T	probably benign	Het
Slitrk3	G	A	3: 73,050,512	T309I	probably benign	Het
Sspo	G	A	6: 48,455,700	E837K	probably damaging	Het
Stag1	A	G	9: 100,951,619	D1095G	probably benign	Het
Trat1	A	T	16: 48,734,805	L188*	probably null	Het
Ubn1	A	G	16: 5,063,725	D207G	probably damaging	Het
Ugp2	A	G	11: 21,331,052	Y219H	probably damaging	Het
Ugt2b1	G	T	5: 86,925,962	Y179*	probably null	Het
Vmn2r27	T	A	6: 124,224,182	D272V	probably benign	Het
Vmn2r3	T	C	3: 64,271,353	E497G	probably benign	Het
Vmn2r91	G	T	17: 18,136,438	C789F	probably damaging	Het
Zfp276	A	G	8: 123,264,977		probably benign	Het

Other mutations in Scd4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02104:Scd4	APN	19	44344747	missense	possibly damaging	0.54
IGL02824:Scd4	APN	19	44341259	missense	probably damaging	1.00
crisco	UTSW	19	44339071	missense	probably benign	0.24
IGL03098:Scd4	UTSW	19	44333492	start codon destroyed	possibly damaging	0.92
R0576:Scd4	UTSW	19	44341246	missense	probably benign	0.00
R0655:Scd4	UTSW	19	44338968	missense	possibly damaging	0.52
R1792:Scd4	UTSW	19	44337574	nonsense	probably null
R1925:Scd4	UTSW	19	44341384	missense	probably damaging	0.99
R1995:Scd4	UTSW	19	44334178	missense	possibly damaging	0.93
R5815:Scd4	UTSW	19	44337564	missense	probably damaging	1.00
R6036:Scd4	UTSW	19	44344792	missense	probably damaging	0.98
R6036:Scd4	UTSW	19	44344792	missense	probably damaging	0.98
R6264:Scd4	UTSW	19	44338959	nonsense	probably null
R6946:Scd4	UTSW	19	44333514	missense	probably null	0.82
R7661:Scd4	UTSW	19	44339071	missense	probably benign	0.24
R7957:Scd4	UTSW	19	44341248	missense	probably benign	0.00
R8112:Scd4	UTSW	19	44337506	missense	probably benign	0.00
R8226:Scd4	UTSW	19	44334133	missense	probably benign	0.00
R9752:Scd4	UTSW	19	44334036	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- CTCTCTAACCTCTGAAGAAGAAGCAG -3'
(R):5'- AACTGTTTCCCATCCCGGTG -3'

Sequencing Primer
(F):5'- TAGAGAGTCAGCCAAGGGTCCTC -3'
(R):5'- GTGACTCCCATGCTACGTGAAC -3'

Posted On

2016-06-06