Mutagenetix > Incidental Mutation

Incidental Mutation 'R5815:Scd4'

449024

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: 0.939) question?

Stock #

R5815 (G1)

Quality Score

215

Status

Not validated

Chromosome

Chromosomal Location

44321765-44335182 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 44326003 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Leucine at position 119 (H119L)

Ref Sequence

ENSEMBL: ENSMUSP00000059860 (fasta)

Gene Model

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

AlphaFold

Q6T707

Predicted Effect

probably damaging
Transcript: ENSMUST00000058856
AA Change: H119L

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000059860
Gene: ENSMUSG00000050195
AA Change: H119L

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

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.9%
20x: 93.8%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Afmid	A	G	11: 117,726,530 (GRCm39)	D226G	probably benign	Het
Ago2	T	C	15: 72,979,215 (GRCm39)		probably null	Het
Aldh1a1	C	A	19: 20,608,034 (GRCm39)	D285E	probably benign	Het
Alms1	T	C	6: 85,599,820 (GRCm39)	S1549P	probably damaging	Het
Apmap	T	C	2: 150,442,171 (GRCm39)	S68G	probably benign	Het
Atp8a1	A	T	5: 67,906,414 (GRCm39)	I500N	probably benign	Het
B3gnt7	A	C	1: 86,233,510 (GRCm39)	D135A	probably benign	Het
Bms1	A	T	6: 118,381,240 (GRCm39)	L692H	probably damaging	Het
Cdk17	T	A	10: 93,064,559 (GRCm39)	V276E	probably damaging	Het
Cep290	A	T	10: 100,393,970 (GRCm39)	E2059V	possibly damaging	Het
Cpxm2	C	A	7: 131,645,839 (GRCm39)	G693V	probably damaging	Het
Crocc	A	T	4: 140,762,507 (GRCm39)	V661E	probably damaging	Het
D1Pas1	A	T	1: 186,700,206 (GRCm39)	N45I	probably damaging	Het
Ddx19a	C	T	8: 111,705,781 (GRCm39)	W223*	probably null	Het
Ddx60	C	A	8: 62,416,756 (GRCm39)	S567Y	probably damaging	Het
Dhx36	A	T	3: 62,401,176 (GRCm39)	N363K	probably damaging	Het
Gm57859	C	A	11: 113,578,783 (GRCm39)		probably null	Het
Gpr151	G	A	18: 42,712,450 (GRCm39)	T76M	probably benign	Het
Inhbc	C	T	10: 127,193,318 (GRCm39)	V233I	probably benign	Het
Ippk	C	T	13: 49,599,839 (GRCm39)	L233F	probably damaging	Het
Lama2	A	G	10: 26,862,847 (GRCm39)	V2972A	probably damaging	Het
Lrrc37a	T	C	11: 103,394,612 (GRCm39)	Q271R	probably benign	Het
Mia2	A	T	12: 59,220,892 (GRCm39)	K1083N	possibly damaging	Het
Mphosph9	A	C	5: 124,453,481 (GRCm39)	L277R	probably damaging	Het
Myo7b	A	T	18: 32,099,341 (GRCm39)	F1694I	probably damaging	Het
Obscn	T	C	11: 58,973,015 (GRCm39)		probably null	Het
Or1e16	AGCGGTCGTAGGC	AGC	11: 73,286,480 (GRCm39)		probably null	Het
Or2w6	T	C	13: 21,842,707 (GRCm39)	Y262C	probably damaging	Het
Pcdh10	A	G	3: 45,347,156 (GRCm39)	T984A	probably benign	Het
Pcdh20	T	C	14: 88,708,312 (GRCm39)	S39G	probably benign	Het
Pdia3	T	A	2: 121,266,892 (GRCm39)	Y467*	probably null	Het
Ptpn13	C	A	5: 103,745,556 (GRCm39)		probably null	Het
Reln	A	G	5: 22,152,431 (GRCm39)	M2345T	probably damaging	Het
Rnf126	A	T	10: 79,602,603 (GRCm39)	I20N	probably benign	Het
Satb1	A	G	17: 52,089,981 (GRCm39)	S289P	possibly damaging	Het
Sco2	T	C	15: 89,256,574 (GRCm39)	T27A	probably benign	Het
Slc39a14	A	T	14: 70,544,194 (GRCm39)	I464N	probably damaging	Het
Slc4a8	T	A	15: 100,686,092 (GRCm39)	V220E	probably benign	Het
Themis3	C	T	17: 66,862,699 (GRCm39)	V420I	possibly damaging	Het
Tmf1	T	A	6: 97,150,364 (GRCm39)	T448S	probably benign	Het
Tspan33	G	A	6: 29,710,688 (GRCm39)	R87Q	probably damaging	Het
Vmn2r91	A	T	17: 18,326,464 (GRCm39)	M250L	probably benign	Het
Zc3h7a	A	T	16: 10,974,050 (GRCm39)	V245D	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
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
R6946:Scd4	UTSW	19	44,321,953 (GRCm39)	missense	probably null	0.82
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'- GGTTCTGGGAAGGAAAGGATTCTC -3'
(R):5'- TCCCATGCTACGTGAACCTC -3'

Sequencing Primer
(F):5'- GGAAGGAAAGGATTCTCTCTAACCTC -3'
(R):5'- CATCAAGCATGCACTGTGGTG -3'

Posted On

2016-12-20