Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01769:Elovl2'

153800

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 #

IGL01769

Quality Score

Status

Chromosome

Chromosomal Location

41335858-41373879 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 41340420 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glycine at position 225 (V225G)

Ref Sequence

ENSEMBL: ENSMUSP00000021793 (fasta)

Gene Model

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

AlphaFold

Q9JLJ4

Predicted Effect

probably damaging
Transcript: ENSMUST00000021793
AA Change: V225G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000021793
Gene: ENSMUSG00000021364
AA Change: V225G

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000117096
AA Change: V208G

PolyPhen 2 Score 0.961 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000114112
Gene: ENSMUSG00000021364
AA Change: V208G

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: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310057M21Rik	T	A	7: 130,959,215 (GRCm39)	M162L	probably benign	Het
Aldh1a1	A	T	19: 20,620,283 (GRCm39)	T487S	probably benign	Het
Bahcc1	T	C	11: 120,171,030 (GRCm39)		probably benign	Het
Cldn10	G	A	14: 119,111,129 (GRCm39)		probably benign	Het
Cntn3	G	A	6: 102,185,145 (GRCm39)	T657I	probably damaging	Het
Crb1	A	T	1: 139,264,806 (GRCm39)	I204K	probably damaging	Het
Crim1	C	A	17: 78,620,664 (GRCm39)	T368K	probably benign	Het
Csad	C	A	15: 102,088,516 (GRCm39)	V237L	probably benign	Het
Cyp39a1	T	G	17: 44,060,806 (GRCm39)	H451Q	possibly damaging	Het
Dclk2	T	C	3: 86,723,667 (GRCm39)	E376G	possibly damaging	Het
Dnah10	A	T	5: 124,842,008 (GRCm39)	Y1331F	possibly damaging	Het
Dnajc11	A	T	4: 152,063,759 (GRCm39)	I452L	probably damaging	Het
Dpf2	T	C	19: 5,962,810 (GRCm39)		probably benign	Het
Fancd2	T	A	6: 113,522,072 (GRCm39)	H222Q	possibly damaging	Het
Fhdc1	G	A	3: 84,352,042 (GRCm39)	A1061V	possibly damaging	Het
Flt4	C	T	11: 49,525,998 (GRCm39)		probably benign	Het
Foxp2	T	C	6: 15,409,834 (GRCm39)	V478A	possibly damaging	Het
H2-Q1	G	A	17: 35,542,505 (GRCm39)	V317M	probably benign	Het
Hrob	T	C	11: 102,146,422 (GRCm39)	C233R	probably benign	Het
Igkv3-5	G	A	6: 70,640,336 (GRCm39)		probably benign	Het
Isg20	G	A	7: 78,564,129 (GRCm39)	C12Y	probably damaging	Het
Itgb4	G	A	11: 115,879,752 (GRCm39)	V635I	probably damaging	Het
Nat8f5	G	A	6: 85,794,859 (GRCm39)	R34C	probably benign	Het
Or8d2	T	C	9: 38,759,629 (GRCm39)	V73A	probably benign	Het
Pramel7	A	G	2: 87,319,932 (GRCm39)	S454P	probably benign	Het
Rarb	T	A	14: 16,443,760 (GRCm38)	E176V	probably damaging	Het
Sema4a	T	A	3: 88,357,063 (GRCm39)	I303F	possibly damaging	Het
Slc25a24	G	A	3: 109,056,816 (GRCm39)	E110K	probably damaging	Het
Slc7a13	A	T	4: 19,839,527 (GRCm39)	I377L	probably benign	Het
Smim19	T	C	8: 22,953,393 (GRCm39)		probably null	Het
Tiam2	A	G	17: 3,477,565 (GRCm39)	Y596C	probably damaging	Het
Tlr1	A	T	5: 65,083,290 (GRCm39)	L429*	probably null	Het
Ubxn8	G	A	8: 34,119,406 (GRCm39)		probably benign	Het
Vmn2r108	C	A	17: 20,691,280 (GRCm39)	M414I	probably benign	Het
Vmn2r99	A	G	17: 19,600,377 (GRCm39)	N467S	probably damaging	Het
Zfp456	T	A	13: 67,515,272 (GRCm39)	T145S	probably benign	Het

Other mutations in Elovl2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00542:Elovl2	APN	13	41,338,790 (GRCm39)	missense	probably benign	0.01
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

2014-02-04