Mutagenetix > Incidental Mutation

Incidental Mutation 'R6036:Scd4'

479239

Institutional Source

Beutler Lab

Gene Symbol

Scd4

Ensembl Gene

ENSMUSG00000050195

Gene Name

stearoyl-coenzyme A desaturase 4

Synonyms

MMRRC Submission

043257-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.940) question?

Stock #

R6036 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

44333092-44346743 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 44344792 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Asparagine at position 319 (D319N)

Ref Sequence

ENSEMBL: ENSMUSP00000059860 (fasta)

Gene Model

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

AlphaFold

Q6T707

Predicted Effect

probably damaging
Transcript: ENSMUST00000058856
AA Change: D319N

PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000059860
Gene: ENSMUSG00000050195
AA Change: D319N

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

Coding Region Coverage

1x: 99.8%
3x: 99.0%
10x: 92.6%
20x: 72.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abi3	T	C	11: 95,832,858 (GRCm38)		probably benign	Het
Ago1	C	T	4: 126,443,228 (GRCm38)	R228H	probably damaging	Het
Alpk3	G	A	7: 81,093,257 (GRCm38)	V941M	probably benign	Het
Ano4	A	G	10: 88,982,265 (GRCm38)	W588R	possibly damaging	Het
Atp6v1a	A	G	16: 44,098,831 (GRCm38)	Y464H	probably benign	Het
Barx2	A	T	9: 31,913,008 (GRCm38)	D28E	probably damaging	Het
Cabp5	A	T	7: 13,401,335 (GRCm38)	M67L	probably damaging	Het
Col10a1	A	G	10: 34,395,282 (GRCm38)	T417A	probably benign	Het
Dnah2	C	T	11: 69,458,920 (GRCm38)	R2399Q	probably benign	Het
Eif4enif1	T	C	11: 3,239,420 (GRCm38)	S227P	probably damaging	Het
Erv3	G	A	2: 131,856,005 (GRCm38)	H145Y	possibly damaging	Het
Exoc5	T	C	14: 49,014,322 (GRCm38)	T591A	possibly damaging	Het
F5	A	T	1: 164,184,996 (GRCm38)	E493V	probably damaging	Het
Gm8444	G	T	15: 81,843,593 (GRCm38)		probably benign	Het
Gria4	T	A	9: 4,537,646 (GRCm38)	I221L	probably benign	Het
Hc	T	C	2: 35,039,684 (GRCm38)	T249A	probably benign	Het
Herc2	A	G	7: 56,068,053 (GRCm38)	T48A	probably benign	Het
Hist1h2bl	A	T	13: 21,715,978 (GRCm38)	S56T	probably damaging	Het
Hp	A	G	8: 109,576,774 (GRCm38)		probably null	Het
Ifna15	T	G	4: 88,558,073 (GRCm38)	D58A	possibly damaging	Het
Kcnj1	A	T	9: 32,397,125 (GRCm38)	M262L	probably benign	Het
Krt83	A	C	15: 101,487,531 (GRCm38)	I320S	possibly damaging	Het
Megf10	A	G	18: 57,242,727 (GRCm38)	N242D	probably damaging	Het
Nup155	A	G	15: 8,128,411 (GRCm38)	T451A	probably benign	Het
Olfr1277	C	T	2: 111,269,612 (GRCm38)	G252R	probably damaging	Het
Olfr1288	T	C	2: 111,478,988 (GRCm38)	L68P	probably damaging	Het
Olfr559	T	A	7: 102,724,485 (GRCm38)	I2F	probably benign	Het
Olfr701	A	T	7: 106,818,460 (GRCm38)	I126F	probably damaging	Het
Olfr930	A	G	9: 38,930,920 (GRCm38)	I250V	probably damaging	Het
Pdzd8	G	A	19: 59,305,209 (GRCm38)	P403S	probably damaging	Het
Piezo2	G	A	18: 63,114,948 (GRCm38)	Q494*	probably null	Het
Plag1	T	C	4: 3,904,618 (GRCm38)	E191G	possibly damaging	Het
Pou4f2	A	T	8: 78,435,474 (GRCm38)	S167T	probably damaging	Het
Senp2	A	T	16: 22,028,558 (GRCm38)	R279*	probably null	Het
Sh3rf3	G	A	10: 58,813,984 (GRCm38)	G137D	probably benign	Het
Simc1	C	T	13: 54,524,621 (GRCm38)	P261S	probably benign	Het
Slc26a1	T	A	5: 108,673,570 (GRCm38)	D151V	probably damaging	Het
Snx29	A	G	16: 11,738,437 (GRCm38)		probably null	Het
Stard9	C	T	2: 120,700,075 (GRCm38)	A2271V	probably benign	Het
Stat6	A	G	10: 127,655,444 (GRCm38)	N485D	possibly damaging	Het
Tpcn2	T	C	7: 145,268,869 (GRCm38)	T280A	possibly damaging	Het
Ttc23	A	G	7: 67,711,366 (GRCm38)	I378V	possibly damaging	Het
Ttc29	A	G	8: 78,325,576 (GRCm38)	D362G	probably benign	Het
Ttll7	A	G	3: 146,940,162 (GRCm38)	I592V	probably benign	Het
Ugt3a1	A	T	15: 9,306,086 (GRCm38)	H107L	probably benign	Het
Vmn1r70	A	G	7: 10,633,903 (GRCm38)	Q87R	probably damaging	Het
Wdfy4	G	T	14: 33,146,990 (GRCm38)	S360R	probably damaging	Het
Zfp780b	A	G	7: 27,963,568 (GRCm38)	Y521H	probably damaging	Het

Other mutations in Scd4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02104:Scd4	APN	19	44,344,747 (GRCm38)	missense	possibly damaging	0.54
IGL02824:Scd4	APN	19	44,341,259 (GRCm38)	missense	probably damaging	1.00
crisco	UTSW	19	44,339,071 (GRCm38)	missense	probably benign	0.24
IGL03098:Scd4	UTSW	19	44,333,492 (GRCm38)	start codon destroyed	possibly damaging	0.92
R0576:Scd4	UTSW	19	44,341,246 (GRCm38)	missense	probably benign	0.00
R0655:Scd4	UTSW	19	44,338,968 (GRCm38)	missense	possibly damaging	0.52
R1792:Scd4	UTSW	19	44,337,574 (GRCm38)	nonsense	probably null
R1925:Scd4	UTSW	19	44,341,384 (GRCm38)	missense	probably damaging	0.99
R1995:Scd4	UTSW	19	44,334,178 (GRCm38)	missense	possibly damaging	0.93
R5018:Scd4	UTSW	19	44,337,609 (GRCm38)	missense	probably benign	0.09
R5815:Scd4	UTSW	19	44,337,564 (GRCm38)	missense	probably damaging	1.00
R6036:Scd4	UTSW	19	44,344,792 (GRCm38)	missense	probably damaging	0.98
R6264:Scd4	UTSW	19	44,338,959 (GRCm38)	nonsense	probably null
R6946:Scd4	UTSW	19	44,333,514 (GRCm38)	missense	probably null	0.82
R7661:Scd4	UTSW	19	44,339,071 (GRCm38)	missense	probably benign	0.24
R7957:Scd4	UTSW	19	44,341,248 (GRCm38)	missense	probably benign	0.00
R8112:Scd4	UTSW	19	44,337,506 (GRCm38)	missense	probably benign	0.00
R8226:Scd4	UTSW	19	44,334,133 (GRCm38)	missense	probably benign	0.00
R9752:Scd4	UTSW	19	44,334,036 (GRCm38)	missense	probably benign	0.01

Predicted Primers

Posted On

2017-06-26