Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00542:Elovl2'

10468

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Elovl2

Ensembl Gene

ENSMUSG00000021364

Gene Name

ELOVL fatty acid elongase 2

Synonyms

Ssc2, elongation of very long chain fatty acids (FEN1/Elo2, SUR4/Elo3, yeast)-like 2

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.095) question?

Stock #

IGL00542

Quality Score

Status

Chromosome

Chromosomal Location

41335858-41373879 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 41338790 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 287 (T287A)

Ref Sequence

ENSEMBL: ENSMUSP00000021793 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000021793] [ENSMUST00000117096]

AlphaFold

Q9JLJ4

Predicted Effect

probably benign
Transcript: ENSMUST00000021793
AA Change: T287A

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)

SMART Domains

Protein: ENSMUSP00000021793
Gene: ENSMUSG00000021364
AA Change: T287A

Domain	Start	End	E-Value	Type
Pfam:ELO	30	265	1.4e-65	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000117096
AA Change: T270A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000114112
Gene: ENSMUSG00000021364
AA Change: T270A

Domain	Start	End	E-Value	Type
Pfam:ELO	13	248	5.8e-67	PFAM

Coding Region Coverage

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice heterozygous for a knock-out allele exhibit reduced male fertility. Mice homozygous for a knock-out allele exhibit male infertility associated with arrested spermatogenesis. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 13 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Birc6	G	A	17: 74,930,766 (GRCm39)		probably null	Het
Cyp11b1	A	T	15: 74,707,702 (GRCm39)		probably null	Het
Ephb4	A	G	5: 137,363,877 (GRCm39)		probably benign	Het
Gpcpd1	T	C	2: 132,398,903 (GRCm39)		probably null	Het
Impg2	C	T	16: 56,081,968 (GRCm39)	R858*	probably null	Het
Lrrk2	G	A	15: 91,584,146 (GRCm39)	R302Q	probably benign	Het
Mgat4d	T	A	8: 84,081,425 (GRCm39)	H59Q	probably benign	Het
Plb1	T	C	5: 32,427,178 (GRCm39)	M96T	probably benign	Het
Scn5a	T	A	9: 119,321,192 (GRCm39)	I1457F	probably damaging	Het
Smc4	T	C	3: 68,935,771 (GRCm39)		probably benign	Het
Ugt2a3	T	C	5: 87,484,682 (GRCm39)	D114G	possibly damaging	Het
Zcchc7	C	T	4: 44,931,462 (GRCm39)	P217L	probably benign	Het
Zfat	T	G	15: 68,042,071 (GRCm39)	D821A	possibly damaging	Het

Other mutations in Elovl2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01769:Elovl2	APN	13	41,340,420 (GRCm39)	missense	probably damaging	1.00
IGL02514:Elovl2	APN	13	41,348,247 (GRCm39)	missense	probably benign	0.00
R0542:Elovl2	UTSW	13	41,345,452 (GRCm39)	splice site	probably benign
R0765:Elovl2	UTSW	13	41,340,942 (GRCm39)	missense	probably benign	0.17
R1076:Elovl2	UTSW	13	41,343,583 (GRCm39)	missense	possibly damaging	0.83
R5562:Elovl2	UTSW	13	41,338,772 (GRCm39)	makesense	probably null
R7860:Elovl2	UTSW	13	41,340,943 (GRCm39)	missense	probably benign	0.04
R8299:Elovl2	UTSW	13	41,345,396 (GRCm39)	missense	probably benign	0.00
R9000:Elovl2	UTSW	13	41,338,810 (GRCm39)	missense	probably benign	0.00
Z1177:Elovl2	UTSW	13	41,343,454 (GRCm39)	missense	probably damaging	1.00

Posted On

2012-12-06