Mutagenetix > Incidental Mutation

Incidental Mutation 'R7843:Elovl4'

606453

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

045897-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7843 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

83660745-83688330 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 83670324 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glycine at position 123 (R123G)

Ref Sequence

ENSEMBL: ENSMUSP00000034796 (fasta)

Gene Model

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

AlphaFold

Q9EQC4

Predicted Effect

probably damaging
Transcript: ENSMUST00000034796
AA Change: R123G

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000034796
Gene: ENSMUSG00000032262
AA Change: R123G

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

Predicted Effect

probably benign
Transcript: ENSMUST00000183614

SMART Domains

Protein: ENSMUSP00000139163
Gene: ENSMUSG00000032262

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcf1	T	C	17: 36,270,135 (GRCm39)	D641G	possibly damaging	Het
Adam1b	A	T	5: 121,639,500 (GRCm39)	I515N	probably damaging	Het
Adamtsl5	A	G	10: 80,178,757 (GRCm39)	V207A	probably damaging	Het
Ampd3	A	G	7: 110,390,395 (GRCm39)	I143V	probably benign	Het
Ank3	A	T	10: 69,822,788 (GRCm39)	T486S	probably benign	Het
Bcl11a	A	G	11: 24,114,831 (GRCm39)	I725V	probably benign	Het
Blmh	A	G	11: 76,837,139 (GRCm39)	N29D	probably damaging	Het
C6	T	A	15: 4,837,886 (GRCm39)	V832D		Het
Ccdc191	T	A	16: 43,779,699 (GRCm39)	L777M	probably damaging	Het
Ccdc74a	C	G	16: 17,464,613 (GRCm39)	H45Q		Het
Cenpe	T	A	3: 134,938,720 (GRCm39)	Y517*	probably null	Het
Cep290	G	T	10: 100,352,050 (GRCm39)	R752L	possibly damaging	Het
Cers5	A	T	15: 99,670,212 (GRCm39)	W17R	unknown	Het
Chpf	T	C	1: 75,454,931 (GRCm39)		probably benign	Het
Chst5	C	A	8: 112,617,204 (GRCm39)	A139S	probably benign	Het
Cpn1	T	A	19: 43,974,597 (GRCm39)	D44V	probably benign	Het
Cstf1	T	C	2: 172,219,920 (GRCm39)	Y344H	probably damaging	Het
D7Ertd443e	A	C	7: 133,950,824 (GRCm39)	M283R	possibly damaging	Het
Dclk1	T	A	3: 55,163,298 (GRCm39)	V130D	probably damaging	Het
Dscam	C	T	16: 96,626,830 (GRCm39)	V360M	probably damaging	Het
Dvl2	A	G	11: 69,899,612 (GRCm39)	N518S	probably benign	Het
Eif2ak2	T	A	17: 79,176,203 (GRCm39)	K231N	probably benign	Het
Ern2	A	G	7: 121,772,931 (GRCm39)	V562A	probably damaging	Het
F13a1	A	T	13: 37,209,745 (GRCm39)	N73K	probably benign	Het
Gcc2	C	A	10: 58,103,843 (GRCm39)	Q90K	possibly damaging	Het
Gnpda1	A	T	18: 38,461,952 (GRCm39)	S282T	probably benign	Het
Gpatch1	G	T	7: 34,980,879 (GRCm39)	H880Q	unknown	Het
Haus6	T	C	4: 86,504,578 (GRCm39)	D471G	possibly damaging	Het
Hcfc1r1	G	T	17: 23,893,630 (GRCm39)	E70*	probably null	Het
Ighv1-54	A	G	12: 115,157,483 (GRCm39)	W55R	probably damaging	Het
Jam3	T	C	9: 27,017,712 (GRCm39)		probably null	Het
Klhdc7a	A	T	4: 139,694,155 (GRCm39)	V264E	possibly damaging	Het
Lrrc4c	A	T	2: 97,460,558 (GRCm39)	T395S	probably benign	Het
Man2a2	G	C	7: 80,018,613 (GRCm39)	A82G	probably benign	Het
Mast2	G	T	4: 116,210,208 (GRCm39)	T186K	probably damaging	Het
Meig1	T	A	2: 3,410,248 (GRCm39)	K84M	probably damaging	Het
Mep1b	G	T	18: 21,228,110 (GRCm39)	S571I	probably damaging	Het
Muc2	T	G	7: 141,281,662 (GRCm39)	V507G	probably benign	Het
Nkx2-3	C	A	19: 43,603,321 (GRCm39)	T309N	probably benign	Het
Oaf	G	A	9: 43,134,077 (GRCm39)	R215C	probably damaging	Het
Or1ad1	A	T	11: 50,875,845 (GRCm39)	T106S	probably benign	Het
Or5b109	A	T	19: 13,211,901 (GRCm39)	N96Y	possibly damaging	Het
Or8b1c	T	C	9: 38,384,243 (GRCm39)	S67P	probably damaging	Het
Pla2r1	T	G	2: 60,277,819 (GRCm39)	T835P	possibly damaging	Het
Ppil6	C	T	10: 41,377,862 (GRCm39)	T191I	probably benign	Het
Rps6ka5	T	C	12: 100,519,408 (GRCm39)	D735G	possibly damaging	Het
Setx	T	A	2: 29,063,581 (GRCm39)	N2292K	probably damaging	Het
Slc1a6	A	T	10: 78,632,094 (GRCm39)	I307F	probably damaging	Het
Slc5a3	T	A	16: 91,875,907 (GRCm39)	W655R	probably benign	Het
Slc9a1	T	C	4: 133,097,753 (GRCm39)		probably benign	Het
Sptbn1	A	G	11: 30,104,320 (GRCm39)	V128A	probably damaging	Het
Tenm3	T	A	8: 48,682,146 (GRCm39)	K2495*	probably null	Het
Tnni3k	T	A	3: 154,744,161 (GRCm39)	T64S	probably damaging	Het
Top1	T	C	2: 160,556,176 (GRCm39)	V545A	possibly damaging	Het
Trabd	A	G	15: 88,966,157 (GRCm39)	D38G	possibly damaging	Het
Tsbp1	C	T	17: 34,668,798 (GRCm39)	T176I	possibly damaging	Het
Umad1	G	A	6: 8,401,140 (GRCm39)	D70N	unknown	Het
Usp36	T	C	11: 118,176,791 (GRCm39)	E9G	probably damaging	Het
Vmn2r53	A	G	7: 12,316,026 (GRCm39)	S598P	probably damaging	Het
Vmn2r60	A	T	7: 41,844,511 (GRCm39)	T625S	probably benign	Het
Vmn2r72	G	A	7: 85,398,838 (GRCm39)	T505I	probably benign	Het
Vwce	T	A	19: 10,641,647 (GRCm39)	I791K	probably benign	Het
Wdr64	C	A	1: 175,639,668 (GRCm39)	H1046N	probably benign	Het
Zdhhc4	A	T	5: 143,306,031 (GRCm39)	D232E	probably damaging	Het
Zfp984	A	T	4: 147,842,165 (GRCm39)	F51I	probably damaging	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
R0563:Elovl4	UTSW	9	83,667,087 (GRCm39)	critical splice donor site	probably null
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
R8303:Elovl4	UTSW	9	83,670,320 (GRCm39)	critical splice donor site	probably null

Predicted Primers

PCR Primer
(F):5'- ATTCTTACAACGTCCAATGACACAG -3'
(R):5'- GCATGTGAAGTCCCAAGCTTG -3'

Sequencing Primer
(F):5'- TGACACAGCACACTAGCAGG -3'
(R):5'- ATGTGAAGTCCCAAGCTTGATCCTC -3'

Posted On

2019-12-20