Mutagenetix > Incidental Mutation

Incidental Mutation 'R8303:Elovl4'

639331

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

067715-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8303 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

83660745-83688330 bp(-) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

A to T at 83670320 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000034796 (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 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: 99.6%
20x: 98.7%

Validation Efficiency

100% (65/65)

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
2810021J22Rik	T	A	11: 58,770,966 (GRCm39)	D149E	probably benign	Het
Aars2	T	C	17: 45,818,523 (GRCm39)	C103R	probably damaging	Het
Aass	T	C	6: 23,092,367 (GRCm39)	D591G	probably benign	Het
Arhgap32	A	G	9: 32,172,205 (GRCm39)	T1662A	probably benign	Het
Arhgap42	A	T	9: 9,009,327 (GRCm39)	I520N	probably damaging	Het
Arhgef3	T	C	14: 27,116,095 (GRCm39)	I279T	probably damaging	Het
Arid4b	A	G	13: 14,294,808 (GRCm39)	K30R	probably damaging	Het
Asxl3	C	T	18: 22,657,473 (GRCm39)	R1828W	probably benign	Het
Bid	T	C	6: 120,877,200 (GRCm39)	Y47C	probably benign	Het
Card6	T	C	15: 5,134,847 (GRCm39)	T119A	probably benign	Het
Cbr1	T	C	16: 93,406,905 (GRCm39)	I207T	probably damaging	Het
Cep135	T	C	5: 76,759,575 (GRCm39)	L443P	probably damaging	Het
Cfap251	T	A	5: 123,460,650 (GRCm39)	V1204E	probably damaging	Het
Cfap43	T	A	19: 47,754,274 (GRCm39)	R1017*	probably null	Het
Cfap52	T	A	11: 67,830,621 (GRCm39)	S280C	probably benign	Het
Cntnap5b	T	C	1: 100,069,022 (GRCm39)	F81L	probably damaging	Het
Cyp4a12a	A	G	4: 115,186,130 (GRCm39)	D430G	probably damaging	Het
Cyp4f37	G	A	17: 32,853,152 (GRCm39)		probably null	Het
Dclre1a	A	G	19: 56,531,121 (GRCm39)	S742P	probably damaging	Het
Ddx54	T	C	5: 120,759,855 (GRCm39)	F414S	probably damaging	Het
Dsp	A	G	13: 38,381,319 (GRCm39)	N2688S	probably benign	Het
Erbin	A	C	13: 103,966,694 (GRCm39)		probably null	Het
Fsip2	A	G	2: 82,818,724 (GRCm39)	D4819G	probably benign	Het
Gapvd1	G	A	2: 34,602,212 (GRCm39)	P645L	probably damaging	Het
Gbp9	T	C	5: 105,229,171 (GRCm39)	E492G	possibly damaging	Het
Gpc5	T	A	14: 115,665,667 (GRCm39)	I497K	probably benign	Het
Hlx	A	G	1: 184,459,905 (GRCm39)	L411P	probably damaging	Het
Hmmr	G	A	11: 40,612,499 (GRCm39)	S206F	probably damaging	Het
Ice1	A	T	13: 70,754,526 (GRCm39)	I520N	probably benign	Het
Ist1	T	C	8: 110,410,412 (GRCm39)		probably null	Het
Itga3	T	C	11: 94,953,466 (GRCm39)	D292G	probably benign	Het
Kif21a	T	C	15: 90,855,399 (GRCm39)	N655S	probably damaging	Het
Lrrtm1	A	G	6: 77,221,662 (GRCm39)	H373R	probably benign	Het
Ngdn	A	T	14: 55,260,602 (GRCm39)	H270L	probably benign	Het
Nol4	G	A	18: 23,173,231 (GRCm39)		probably benign	Het
Nup50l	T	C	6: 96,142,702 (GRCm39)	E114G	probably benign	Het
Nxpe5	G	A	5: 138,239,264 (GRCm39)		probably benign	Het
Or1j18	A	G	2: 36,624,467 (GRCm39)	I45V	probably damaging	Het
Or4c11c	G	A	2: 88,661,633 (GRCm39)	M57I	possibly damaging	Het
Or8d1	A	C	9: 38,766,837 (GRCm39)	T160P	probably damaging	Het
Or8g30	A	C	9: 39,230,689 (GRCm39)	S74A	probably damaging	Het
Pask	C	A	1: 93,248,286 (GRCm39)	R1005L	probably benign	Het
Pcm1	A	G	8: 41,736,758 (GRCm39)	T875A	probably damaging	Het
Pdrg1	A	T	2: 152,851,587 (GRCm39)	I130N	probably damaging	Het
Plec	A	T	15: 76,073,466 (GRCm39)	M448K	unknown	Het
R3hdml	T	G	2: 163,341,832 (GRCm39)	V204G	probably damaging	Het
Rasa4	G	A	5: 136,118,235 (GRCm39)	V32M	possibly damaging	Het
Scaf8	T	C	17: 3,198,827 (GRCm39)	V44A	unknown	Het
Smad3	G	T	9: 63,574,760 (GRCm39)	P177T	probably benign	Het
Smpd4	T	A	16: 17,457,195 (GRCm39)	F384L	probably damaging	Het
Sycp2l	G	C	13: 41,283,275 (GRCm39)	L170F	probably damaging	Het
Tas2r107	T	C	6: 131,636,585 (GRCm39)	S155G	probably benign	Het
Tmem143	T	A	7: 45,565,994 (GRCm39)	M439K	probably benign	Het
Ttc41	A	T	10: 86,555,494 (GRCm39)	T317S	probably benign	Het
Umps	A	G	16: 33,784,240 (GRCm39)	V71A	possibly damaging	Het
Usp17lc	G	A	7: 103,067,389 (GRCm39)	G228D	possibly damaging	Het
Usp17ld	C	T	7: 102,900,023 (GRCm39)	C303Y	probably damaging	Het
Vmn2r65	C	A	7: 84,589,391 (GRCm39)	E842*	probably null	Het
Vmn2r94	A	G	17: 18,464,433 (GRCm39)	F619S	probably damaging	Het
Vps13a	T	C	19: 16,594,270 (GRCm39)	T3154A	probably benign	Het
Vps13b	C	T	15: 35,640,063 (GRCm39)	T1311I	probably damaging	Het
Xpot	A	T	10: 121,447,405 (GRCm39)	Y353*	probably null	Het
Zfp319	A	T	8: 96,055,765 (GRCm39)	L146Q	probably damaging	Het
Zfp422	T	A	6: 116,603,612 (GRCm39)	H129L	probably damaging	Het
Zzef1	T	C	11: 72,808,015 (GRCm39)	F2709L	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
R7843:Elovl4	UTSW	9	83,670,324 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GGTTCATTCTTACAACGTCCAATG -3'
(R):5'- GTCCCAAGCTTGATCCTCAAC -3'

Sequencing Primer
(F):5'- TTCTTACAACGTCCAATGACACAG -3'
(R):5'- TAAAATGTGTGATGCATGTGAGATG -3'

Posted On

2020-07-28