Mutagenetix > Incidental Mutation

Incidental Mutation 'R6433:Elovl4'

518646

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

044571-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6433 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

83660745-83688330 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 83667231 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 42 (V42A)

Ref Sequence

ENSEMBL: ENSMUSP00000139163 (fasta)

Gene Model

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

AlphaFold

Q9EQC4

Predicted Effect

probably benign
Transcript: ENSMUST00000034796
AA Change: V133A

PolyPhen 2 Score 0.321 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000034796
Gene: ENSMUSG00000032262
AA Change: V133A

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000183614
AA Change: V42A

PolyPhen 2 Score 0.458 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000139163
Gene: ENSMUSG00000032262
AA Change: V42A

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

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 97.9%
20x: 93.6%

Validation Efficiency

100% (56/56)

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Afdn	T	A	17: 14,101,561 (GRCm39)	D1016E	probably damaging	Het
Aplnr	A	T	2: 84,967,017 (GRCm39)	Q14L	probably benign	Het
Aspm	T	C	1: 139,401,421 (GRCm39)	L1147S	probably damaging	Het
Atad2b	A	G	12: 5,002,642 (GRCm39)	T337A	possibly damaging	Het
Atrn	A	G	2: 130,864,947 (GRCm39)	E1358G	probably damaging	Het
Caml	C	A	13: 55,771,062 (GRCm39)	S53R	possibly damaging	Het
Cd180	T	G	13: 102,842,141 (GRCm39)	S396A	probably benign	Het
Cdhr2	A	G	13: 54,866,325 (GRCm39)	T344A	probably damaging	Het
Cyp4a31	A	C	4: 115,427,466 (GRCm39)	D224A	probably damaging	Het
Dhx36	T	C	3: 62,392,395 (GRCm39)	T544A	probably damaging	Het
Dnah14	A	G	1: 181,479,222 (GRCm39)	K1528E	probably damaging	Het
Dnpep	T	A	1: 75,292,022 (GRCm39)	K199N	probably benign	Het
Dsc2	C	T	18: 20,184,232 (GRCm39)		probably null	Het
Efl1	T	A	7: 82,323,776 (GRCm39)	D239E	probably damaging	Het
Exoc3	T	C	13: 74,337,306 (GRCm39)	T432A	possibly damaging	Het
Fam98c	A	G	7: 28,855,553 (GRCm39)		probably null	Het
Fbln2	G	A	6: 91,210,254 (GRCm39)	G66D	probably damaging	Het
Fchsd1	G	A	18: 38,097,137 (GRCm39)	T410I	possibly damaging	Het
Flcn	T	C	11: 59,691,908 (GRCm39)	D247G	probably damaging	Het
Galnt16	T	C	12: 80,622,677 (GRCm39)	V127A	probably benign	Het
H2-Ob	A	T	17: 34,462,860 (GRCm39)		probably null	Het
Has2	G	A	15: 56,531,194 (GRCm39)	S507F	possibly damaging	Het
Ido2	T	A	8: 25,023,939 (GRCm39)	M300L	probably damaging	Het
Itga10	T	C	3: 96,565,357 (GRCm39)		probably null	Het
Klra9	G	T	6: 130,155,995 (GRCm39)	Y253*	probably null	Het
Mfsd2a	A	G	4: 122,844,250 (GRCm39)	V299A	probably benign	Het
Mybpc1	T	C	10: 88,396,217 (GRCm39)	D210G	probably damaging	Het
Ndrg1	A	T	15: 66,805,721 (GRCm39)	M128K	probably damaging	Het
Obscn	T	A	11: 58,942,384 (GRCm39)	T5091S	probably benign	Het
Or2j3	A	G	17: 38,616,304 (GRCm39)	L16P	probably damaging	Het
Pex5	A	T	6: 124,390,572 (GRCm39)	M91K	possibly damaging	Het
Phlpp2	G	T	8: 110,661,317 (GRCm39)	A810S	probably benign	Het
Pla2g7	G	C	17: 43,910,017 (GRCm39)	A174P	probably damaging	Het
Plxna4	C	T	6: 32,192,613 (GRCm39)	V783M	probably damaging	Het
Poll	A	T	19: 45,542,043 (GRCm39)	M421K	probably benign	Het
Ppfia2	C	A	10: 106,749,559 (GRCm39)	S1148R	possibly damaging	Het
Prkg1	A	G	19: 30,758,746 (GRCm39)	F280S	probably benign	Het
Rdh10	G	A	1: 16,178,079 (GRCm39)	C117Y	probably damaging	Het
Rtl1	C	A	12: 109,561,630 (GRCm39)	A70S	unknown	Het
Scgb2b3	A	T	7: 31,058,492 (GRCm39)	L104I	probably benign	Het
Sh3tc1	T	C	5: 35,863,941 (GRCm39)	R749G	probably damaging	Het
Skint4	A	G	4: 112,003,707 (GRCm39)	K380R	probably benign	Het
Smtnl1	A	C	2: 84,648,712 (GRCm39)	S181A	probably benign	Het
Spata31d1b	T	C	13: 59,864,999 (GRCm39)	S716P	probably damaging	Het
Spc25	A	G	2: 69,036,446 (GRCm39)		probably benign	Het
Stab2	C	T	10: 86,737,431 (GRCm39)		probably null	Het
Timm22	T	C	11: 76,300,570 (GRCm39)	V114A	possibly damaging	Het
Timp4	A	G	6: 115,224,181 (GRCm39)	C163R	probably damaging	Het
Toporsl	T	A	4: 52,611,548 (GRCm39)	N480K	possibly damaging	Het
Tpo	T	C	12: 30,134,753 (GRCm39)	E735G	probably benign	Het
Trpm3	A	G	19: 22,878,669 (GRCm39)	D692G	probably damaging	Het
Ttn	T	C	2: 76,582,058 (GRCm39)	H22945R	probably damaging	Het
Vmn2r6	A	T	3: 64,454,801 (GRCm39)	Y499*	probably null	Het
Vwa1	G	A	4: 155,857,226 (GRCm39)	H191Y	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
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
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'- TTCAGACAGAAAGGTGGGTCCC -3'
(R):5'- GACACTGTCTGGCTCTAAGC -3'

Sequencing Primer
(F):5'- AAAGGTGGGTCCCTCACCTTG -3'
(R):5'- TGGGTACACGGTTAGGTCTGAAAC -3'

Posted On

2018-05-24