Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02824:Scd4'

361141

Institutional Source

Australian Phenomics Network (link to record)

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 #

IGL02824

Quality Score

Status

Chromosome

Chromosomal Location

44321765-44335182 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 44329698 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 223 (L223P)

Ref Sequence

ENSEMBL: ENSMUSP00000059860 (fasta)

Gene Model

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

AlphaFold

Q6T707

Predicted Effect

probably damaging
Transcript: ENSMUST00000058856
AA Change: L223P

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000059860
Gene: ENSMUSG00000050195
AA Change: L223P

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

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9530002B09Rik	T	C	4: 122,596,112 (GRCm39)		probably benign	Het
Aadat	A	T	8: 60,969,056 (GRCm39)	K93N	probably benign	Het
Abcb5	A	G	12: 118,854,420 (GRCm39)	F832L	probably benign	Het
Abl1	A	T	2: 31,690,831 (GRCm39)	K783N	probably damaging	Het
Agxt2	A	G	15: 10,393,891 (GRCm39)	E423G	probably null	Het
Alkbh8	T	C	9: 3,368,021 (GRCm39)		probably null	Het
Ankrd36	T	C	11: 5,524,246 (GRCm39)	I171T	possibly damaging	Het
Ap1b1	G	T	11: 4,983,738 (GRCm39)	A664S	possibly damaging	Het
Cd19	T	C	7: 126,009,826 (GRCm39)	D446G	probably damaging	Het
Ces1d	C	A	8: 93,896,346 (GRCm39)		probably null	Het
Cyp4f39	T	C	17: 32,687,659 (GRCm39)		probably null	Het
Ehbp1l1	T	C	19: 5,769,326 (GRCm39)	D659G	probably benign	Het
Eif3l	A	G	15: 78,960,023 (GRCm39)		probably null	Het
F5	T	C	1: 164,021,916 (GRCm39)	S1464P	probably benign	Het
Fut9	T	C	4: 25,620,037 (GRCm39)	N259S	probably damaging	Het
Glb1l3	A	T	9: 26,761,405 (GRCm39)	I209N	probably damaging	Het
Gpd2	A	G	2: 57,254,339 (GRCm39)	E671G	probably null	Het
Heatr5b	T	C	17: 79,081,109 (GRCm39)	D1381G	probably damaging	Het
Ifi206	A	T	1: 173,309,438 (GRCm39)	I186K	possibly damaging	Het
Izumo1	A	G	7: 45,275,072 (GRCm39)	D236G	probably benign	Het
Klhl32	T	A	4: 24,682,237 (GRCm39)	R149*	probably null	Het
Lrrn1	T	C	6: 107,545,495 (GRCm39)	F431S	possibly damaging	Het
Man2b2	C	T	5: 36,979,195 (GRCm39)	V282I	probably benign	Het
Mboat2	A	G	12: 24,996,585 (GRCm39)	K164R	probably benign	Het
Mgarp	T	C	3: 51,296,508 (GRCm39)	T165A	probably damaging	Het
Midn	T	G	10: 79,989,486 (GRCm39)	I43S	possibly damaging	Het
Ndn	A	G	7: 61,998,582 (GRCm39)	I143V	possibly damaging	Het
Or6c69	T	C	10: 129,747,565 (GRCm39)	E194G	probably damaging	Het
Or8h9	T	C	2: 86,789,337 (GRCm39)	D155G	probably benign	Het
Pcnx4	T	C	12: 72,602,345 (GRCm39)	V278A	probably benign	Het
Prr30	A	G	14: 101,435,954 (GRCm39)	F203L	probably benign	Het
Setdb1	T	C	3: 95,247,215 (GRCm39)		probably benign	Het
Smtn	A	G	11: 3,482,658 (GRCm39)	Y105H	probably damaging	Het
Spata19	A	G	9: 27,309,025 (GRCm39)	I54M	possibly damaging	Het
Syk	A	T	13: 52,777,319 (GRCm39)		probably benign	Het
Trim44	A	G	2: 102,230,540 (GRCm39)	F164L	possibly damaging	Het
Zfp503	C	T	14: 22,035,162 (GRCm39)	G585S	possibly 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
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
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

Posted On

2015-12-18