Mutagenetix > Incidental Mutation

Incidental Mutation 'R0563:Elovl4'

46017

Institutional Source

Beutler Lab

Gene Symbol

Elovl4

Ensembl Gene

ENSMUSG00000032262

Gene Name

ELOVL fatty acid elongase 4

Synonyms

elongation of very long chain fatty acids (FEN1/Elo2, SUR4/Elo3, yeast)-like 4

MMRRC Submission

038754-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0563 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

83660745-83688330 bp(-) (GRCm39)

Type of Mutation

critical splice donor site (1 bp from exon)

DNA Base Change (assembly)

C to T at 83667087 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000139163 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034796] [ENSMUST00000183614]

AlphaFold

Q9EQC4

Predicted Effect

probably null
Transcript: ENSMUST00000034796

SMART Domains

Protein: ENSMUSP00000034796
Gene: ENSMUSG00000032262

Domain	Start	End	E-Value	Type
Pfam:ELO	41	278	1e-69	PFAM
low complexity region	300	311	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000183614

SMART Domains

Protein: ENSMUSP00000139163
Gene: ENSMUSG00000032262

Domain	Start	End	E-Value	Type
Pfam:ELO	9	181	1.6e-50	PFAM

Meta Mutation Damage Score

0.9479

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.6%
20x: 93.3%

Validation Efficiency

98% (52/53)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a membrane-bound protein which is a member of the ELO family, proteins which participate in the biosynthesis of fatty acids. Consistent with the expression of the encoded protein in photoreceptor cells of the retina, mutations and small deletions in this gene are associated with Stargardt-like macular dystrophy (STGD3) and autosomal dominant Stargardt-like macular dystrophy (ADMD), also referred to as autosomal dominant atrophic macular degeneration. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a null allele die before or around birth. Mice heterozygous for a null allele breed poorly and display mild retinal abnormalities. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrb3	G	T	1: 25,586,635 (GRCm39)	P146T	probably damaging	Het
Ambn	A	C	5: 88,611,309 (GRCm39)	N163T	probably benign	Het
Ankrd36	A	T	11: 5,579,322 (GRCm39)	E870D	probably benign	Het
Cdc123	T	C	2: 5,803,212 (GRCm39)	N269S	probably benign	Het
Cdc7	A	T	5: 107,120,776 (GRCm39)		probably benign	Het
Cdh2	A	T	18: 16,762,738 (GRCm39)	V402D	possibly damaging	Het
Cwc27	C	A	13: 104,797,865 (GRCm39)	E365*	probably null	Het
Dcdc5	G	A	2: 106,180,035 (GRCm39)		noncoding transcript	Het
Eif4g3	T	C	4: 137,903,151 (GRCm39)		probably benign	Het
Fhl5	T	G	4: 25,213,610 (GRCm39)	I109L	probably damaging	Het
Gm16181	A	G	17: 35,442,872 (GRCm39)		probably benign	Het
Gna14	A	G	19: 16,585,483 (GRCm39)	Y287C	probably benign	Het
Greb1	A	T	12: 16,730,268 (GRCm39)	C1720S	probably benign	Het
Gypa	T	A	8: 81,236,089 (GRCm39)	S165T	probably benign	Het
Hephl1	T	C	9: 14,993,241 (GRCm39)	D531G	probably damaging	Het
Hsf2bp	A	T	17: 32,226,692 (GRCm39)	L221Q	probably damaging	Het
Itsn1	A	G	16: 91,617,684 (GRCm39)		probably benign	Het
Kif7	T	C	7: 79,352,020 (GRCm39)	E914G	probably benign	Het
Lrp1b	T	C	2: 40,640,926 (GRCm39)	D3506G	probably benign	Het
Lrrc28	T	C	7: 67,195,135 (GRCm39)	N225S	probably damaging	Het
Lysmd4	T	A	7: 66,875,925 (GRCm39)	L196Q	probably benign	Het
Megf8	T	C	7: 25,041,820 (GRCm39)	C1245R	probably damaging	Het
Mgat4f	A	G	1: 134,317,777 (GRCm39)	K183R	probably benign	Het
Mib2	C	T	4: 155,743,917 (GRCm39)	G42S	probably damaging	Het
Mindy2	T	A	9: 70,538,334 (GRCm39)	I334L	possibly damaging	Het
Mrm1	A	G	11: 84,705,539 (GRCm39)	S287P	probably damaging	Het
Ncor1	A	G	11: 62,234,056 (GRCm39)	I382T	probably damaging	Het
Nectin1	A	G	9: 43,702,342 (GRCm39)	T30A	probably benign	Het
Nelfe	A	G	17: 35,073,215 (GRCm39)	E250G	possibly damaging	Het
Nsd1	C	A	13: 55,394,391 (GRCm39)	T767K	possibly damaging	Het
Or1i2	G	A	10: 78,448,467 (GRCm39)	P3S	probably benign	Het
Or1j18	A	T	2: 36,625,013 (GRCm39)	K227*	probably null	Het
Or4e5	T	A	14: 52,727,714 (GRCm39)	K236*	probably null	Het
Or5b111	A	G	19: 13,291,112 (GRCm39)	I179T	probably benign	Het
Pcnx1	A	G	12: 81,964,718 (GRCm39)	D295G	probably damaging	Het
Pex14	A	G	4: 149,046,003 (GRCm39)	V309A	possibly damaging	Het
Phf14	C	T	6: 11,933,600 (GRCm39)		probably benign	Het
Pnpla6	A	G	8: 3,573,333 (GRCm39)	D399G	possibly damaging	Het
Prim1	A	G	10: 127,862,423 (GRCm39)	D340G	probably damaging	Het
Rb1	A	G	14: 73,454,207 (GRCm39)	F564L	probably damaging	Het
Rcc1l	G	C	5: 134,205,394 (GRCm39)	R54G	probably benign	Het
Rnf151	G	A	17: 24,936,430 (GRCm39)		probably benign	Het
Rnf40	T	C	7: 127,192,048 (GRCm39)	L398P	probably damaging	Het
Robo1	C	T	16: 72,769,174 (GRCm39)	T531I	probably benign	Het
Rps6ka2	A	T	17: 7,521,836 (GRCm39)	I198F	probably damaging	Het
Sgk2	T	C	2: 162,846,164 (GRCm39)	L264P	probably damaging	Het
Slc26a6	T	A	9: 108,734,869 (GRCm39)	I281N	probably damaging	Het
Tnxb	A	T	17: 34,935,921 (GRCm39)	K2657N	probably benign	Het
Tor1aip1	G	A	1: 155,911,554 (GRCm39)	T143M	probably damaging	Het
Tpr	A	G	1: 150,284,609 (GRCm39)	D358G	probably benign	Het
Vstm2b	T	C	7: 40,551,899 (GRCm39)	S76P	probably damaging	Het
Wdr33	A	G	18: 32,019,792 (GRCm39)	K488R	possibly damaging	Het
Ythdc2	T	A	18: 44,997,915 (GRCm39)		probably benign	Het

Other mutations in Elovl4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
hershey	UTSW	9	83,688,091 (GRCm39)	start codon destroyed	probably null	0.31
R0278:Elovl4	UTSW	9	83,665,248 (GRCm39)	missense	probably benign	0.00
R0739:Elovl4	UTSW	9	83,667,162 (GRCm39)	missense	probably damaging	1.00
R0771:Elovl4	UTSW	9	83,667,168 (GRCm39)	missense	possibly damaging	0.95
R1970:Elovl4	UTSW	9	83,662,772 (GRCm39)	missense	probably damaging	1.00
R2316:Elovl4	UTSW	9	83,662,826 (GRCm39)	missense	probably damaging	1.00
R3777:Elovl4	UTSW	9	83,667,201 (GRCm39)	frame shift	probably null
R3779:Elovl4	UTSW	9	83,667,201 (GRCm39)	frame shift	probably null
R4823:Elovl4	UTSW	9	83,662,738 (GRCm39)	missense	probably damaging	1.00
R4827:Elovl4	UTSW	9	83,688,091 (GRCm39)	start codon destroyed	probably null	0.31
R5264:Elovl4	UTSW	9	83,662,817 (GRCm39)	missense	probably benign	0.19
R5275:Elovl4	UTSW	9	83,662,714 (GRCm39)	missense	possibly damaging	0.72
R5295:Elovl4	UTSW	9	83,662,714 (GRCm39)	missense	possibly damaging	0.72
R5361:Elovl4	UTSW	9	83,672,154 (GRCm39)	missense	possibly damaging	0.95
R5364:Elovl4	UTSW	9	83,672,076 (GRCm39)	missense	probably benign	0.21
R5897:Elovl4	UTSW	9	83,672,157 (GRCm39)	missense	possibly damaging	0.50
R6433:Elovl4	UTSW	9	83,667,231 (GRCm39)	missense	possibly damaging	0.46
R6668:Elovl4	UTSW	9	83,688,039 (GRCm39)	missense	probably benign	0.02
R6844:Elovl4	UTSW	9	83,672,164 (GRCm39)	missense	probably benign	0.09
R6897:Elovl4	UTSW	9	83,665,278 (GRCm39)	missense	probably benign	0.05
R6933:Elovl4	UTSW	9	83,667,153 (GRCm39)	missense	probably damaging	1.00
R7534:Elovl4	UTSW	9	83,672,172 (GRCm39)	missense	probably damaging	1.00
R7544:Elovl4	UTSW	9	83,665,271 (GRCm39)	missense	probably damaging	1.00
R7843:Elovl4	UTSW	9	83,670,324 (GRCm39)	missense	probably damaging	1.00
R8303:Elovl4	UTSW	9	83,670,320 (GRCm39)	critical splice donor site	probably null

Predicted Primers

PCR Primer
(F):5'- GACTAGAGCAAATCTCTGCCCAGC -3'
(R):5'- AGGTCTGAAACCTACCTCTCGGAAG -3'

Sequencing Primer
(F):5'- GCGTTCTATCAGATCAGAACTGC -3'
(R):5'- TACCTCTCGGAAGAACGATTGC -3'

Posted On

2013-06-11