Mutagenetix > Incidental Mutation

Incidental Mutation 'R6946:Scd4'

540910

Institutional Source

Beutler Lab

Gene Symbol

Scd4

Ensembl Gene

ENSMUSG00000050195

Gene Name

stearoyl-coenzyme A desaturase 4

Synonyms

Accession Numbers

Essential gene?

Probably essential (E-score: 0.934) question?

Stock #

R6946 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

44321765-44335182 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 44321953 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 8 (E8G)

Ref Sequence

ENSEMBL: ENSMUSP00000059860 (fasta)

Gene Model

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

AlphaFold

Q6T707

Predicted Effect

probably null
Transcript: ENSMUST00000058856
AA Change: E8G

PolyPhen 2 Score 0.819 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000059860
Gene: ENSMUSG00000050195
AA Change: E8G

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: 100.0%
3x: 99.8%
10x: 98.9%
20x: 95.7%

Validation Efficiency

100% (42/42)

Allele List at MGI

Other mutations in this stock

Total: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc9	T	A	6: 142,624,953 (GRCm39)	S481C	probably damaging	Het
Atp8a1	T	C	5: 67,779,968 (GRCm39)	T1142A	possibly damaging	Het
Atxn1l	G	T	8: 110,458,648 (GRCm39)	P538H	probably damaging	Het
Carmil1	T	C	13: 24,299,528 (GRCm39)	N332S	possibly damaging	Het
Clec4b2	C	T	6: 123,177,987 (GRCm39)	Q101*	probably null	Het
Clstn2	A	T	9: 97,351,875 (GRCm39)	F517I	probably damaging	Het
Dap3	T	A	3: 88,845,523 (GRCm39)		probably benign	Het
Dgki	C	A	6: 37,276,571 (GRCm39)	G105*	probably null	Het
Dnm3	T	C	1: 162,141,224 (GRCm39)	E345G	possibly damaging	Het
Fam120a	A	T	13: 49,034,496 (GRCm39)	S1039T	possibly damaging	Het
Gpr132	T	A	12: 112,815,830 (GRCm39)	Y332F	probably benign	Het
Ifi44	A	T	3: 151,451,536 (GRCm39)	I190N	possibly damaging	Het
Ighv1-42	T	A	12: 114,901,155 (GRCm39)	N4Y	possibly damaging	Het
Igll1	A	G	16: 16,678,920 (GRCm39)	V130A	probably damaging	Het
Ikzf2	T	A	1: 69,616,955 (GRCm39)	K137*	probably null	Het
Klra9	T	A	6: 130,156,003 (GRCm39)	I251F	probably benign	Het
Lrp1b	T	C	2: 40,587,451 (GRCm39)	I166V	probably benign	Het
Map3k1	C	T	13: 111,905,035 (GRCm39)	W213*	probably null	Het
Map3k12	A	G	15: 102,413,569 (GRCm39)	M134T	possibly damaging	Het
Mfsd3	T	A	15: 76,587,349 (GRCm39)	M344K	probably damaging	Het
Mier2	C	A	10: 79,376,673 (GRCm39)		probably benign	Het
Nop53	C	T	7: 15,672,283 (GRCm39)	R462Q	probably damaging	Het
Oog2	A	T	4: 143,923,034 (GRCm39)	D433V	possibly damaging	Het
Or5p76	T	A	7: 108,122,528 (GRCm39)	I210F	probably benign	Het
Or7d11	A	T	9: 19,966,670 (GRCm39)	L30M	possibly damaging	Het
Or8g30	C	A	9: 39,230,315 (GRCm39)	L198F	probably damaging	Het
Or8k38	T	A	2: 86,487,932 (GRCm39)	Y290F	probably damaging	Het
Pan2	A	G	10: 128,151,506 (GRCm39)	T867A	probably benign	Het
Pcdhb3	T	A	18: 37,435,672 (GRCm39)	L546Q	probably damaging	Het
Plcg2	A	T	8: 118,230,929 (GRCm39)	M4L	probably benign	Het
Prss21	T	C	17: 24,087,138 (GRCm39)	S24P	possibly damaging	Het
Ryr3	T	C	2: 112,661,545 (GRCm39)	D1815G	probably damaging	Het
Sec31b	T	C	19: 44,522,755 (GRCm39)	D79G	probably damaging	Het
Siah1a	G	T	8: 87,451,770 (GRCm39)	A238E	probably damaging	Het
Spag17	G	A	3: 99,911,999 (GRCm39)	E290K	possibly damaging	Het
Srl	T	C	16: 4,300,423 (GRCm39)	I883V	probably benign	Het
Tas2r117	T	C	6: 132,780,288 (GRCm39)	L142S	probably damaging	Het
Trgv1	T	C	13: 19,524,190 (GRCm39)	L2P	probably benign	Het
Ttn	A	T	2: 76,580,199 (GRCm39)	W23565R	probably damaging	Het
Vipr2	A	T	12: 116,102,819 (GRCm39)	T310S	possibly damaging	Het
Zfp112	A	T	7: 23,824,766 (GRCm39)	N245Y	probably damaging	Het

Other mutations in Scd4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02104:Scd4	APN	19	44,333,186 (GRCm39)	missense	possibly damaging	0.54
IGL02824:Scd4	APN	19	44,329,698 (GRCm39)	missense	probably damaging	1.00
crisco	UTSW	19	44,327,510 (GRCm39)	missense	probably benign	0.24
IGL03098:Scd4	UTSW	19	44,321,931 (GRCm39)	start codon destroyed	possibly damaging	0.92
R0576:Scd4	UTSW	19	44,329,685 (GRCm39)	missense	probably benign	0.00
R0655:Scd4	UTSW	19	44,327,407 (GRCm39)	missense	possibly damaging	0.52
R1792:Scd4	UTSW	19	44,326,013 (GRCm39)	nonsense	probably null
R1925:Scd4	UTSW	19	44,329,823 (GRCm39)	missense	probably damaging	0.99
R1995:Scd4	UTSW	19	44,322,617 (GRCm39)	missense	possibly damaging	0.93
R5018:Scd4	UTSW	19	44,326,048 (GRCm39)	missense	probably benign	0.09
R5815:Scd4	UTSW	19	44,326,003 (GRCm39)	missense	probably damaging	1.00
R6036:Scd4	UTSW	19	44,333,231 (GRCm39)	missense	probably damaging	0.98
R6036:Scd4	UTSW	19	44,333,231 (GRCm39)	missense	probably damaging	0.98
R6264:Scd4	UTSW	19	44,327,398 (GRCm39)	nonsense	probably null
R7661:Scd4	UTSW	19	44,327,510 (GRCm39)	missense	probably benign	0.24
R7957:Scd4	UTSW	19	44,329,687 (GRCm39)	missense	probably benign	0.00
R8112:Scd4	UTSW	19	44,325,945 (GRCm39)	missense	probably benign	0.00
R8226:Scd4	UTSW	19	44,322,572 (GRCm39)	missense	probably benign	0.00
R9752:Scd4	UTSW	19	44,322,475 (GRCm39)	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- GAACTGACTGGTGACACCTG -3'
(R):5'- CATGCAGAAAGGTATTGGCTGG -3'

Sequencing Primer
(F):5'- ACTGGTGACACCTGCACAGTTAG -3'
(R):5'- ACGGGAGCTTTCTTTCCTTTAAAG -3'

Posted On

2018-11-28