Mutagenetix > Incidental Mutation

Incidental Mutation 'R6897:Elovl4'

538400

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

044991-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6897 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

83660745-83688330 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 83665278 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 103 (I103V)

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: I194V

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000034796
Gene: ENSMUSG00000032262
AA Change: I194V

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
AA Change: I103V

PolyPhen 2 Score 0.046 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000139163
Gene: ENSMUSG00000032262
AA Change: I103V

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.3%
20x: 97.7%

Validation Efficiency

97% (72/74)

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: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930579F01Rik	T	C	3: 137,889,534 (GRCm39)	I28V	possibly damaging	Het
Adamts2	A	T	11: 50,627,991 (GRCm39)		probably null	Het
Adgrg1	T	C	8: 95,729,126 (GRCm39)	F17L	probably benign	Het
Aldob	A	G	4: 49,539,789 (GRCm39)	L183P	probably damaging	Het
Alg5	T	C	3: 54,656,063 (GRCm39)	C270R	probably benign	Het
Anxa4	T	A	6: 86,720,160 (GRCm39)		probably null	Het
Armc2	C	A	10: 41,869,225 (GRCm39)		probably null	Het
Atrnl1	A	G	19: 58,030,800 (GRCm39)	N1314S	probably benign	Het
Bbs7	T	A	3: 36,652,460 (GRCm39)	E331V	probably benign	Het
Bmper	T	A	9: 23,285,225 (GRCm39)	V258E	probably benign	Het
Catspere2	A	T	1: 177,939,139 (GRCm39)	I671F	possibly damaging	Het
Cd101	A	G	3: 100,920,376 (GRCm39)	S508P	probably damaging	Het
Cd177	C	T	7: 24,444,499 (GRCm39)	R694H	probably benign	Het
Clptm1	C	A	7: 19,369,751 (GRCm39)	Q386H	possibly damaging	Het
Cnrip1	A	G	11: 17,004,705 (GRCm39)	Y85C	probably damaging	Het
Dclk2	A	T	3: 86,739,070 (GRCm39)	F310I	probably benign	Het
Dmxl1	A	G	18: 49,984,562 (GRCm39)	K186R	probably null	Het
Dmxl1	C	A	18: 49,996,124 (GRCm39)	Q417K	possibly damaging	Het
Eloa	T	C	4: 135,740,220 (GRCm39)	D67G	possibly damaging	Het
Gabpa	C	G	16: 84,657,361 (GRCm39)	A412G	probably benign	Het
Gldn	T	A	9: 54,242,158 (GRCm39)		probably null	Het
Ino80d	A	T	1: 63,104,993 (GRCm39)	I361N	probably damaging	Het
Kalrn	G	A	16: 33,796,073 (GRCm39)	T1234M	probably damaging	Het
Kcnk13	T	A	12: 100,028,026 (GRCm39)	M367K	probably benign	Het
Klrd1	G	A	6: 129,570,468 (GRCm39)	R8Q	possibly damaging	Het
Kmt2a	T	C	9: 44,758,942 (GRCm39)	N969S	probably benign	Het
Lgi4	A	G	7: 30,768,315 (GRCm39)	D438G	probably benign	Het
Lig1	T	C	7: 13,039,840 (GRCm39)	L684P	probably damaging	Het
Lrp2	T	C	2: 69,340,846 (GRCm39)	M1010V	probably benign	Het
Magi3	C	A	3: 103,996,873 (GRCm39)	R224I	probably damaging	Het
Mier2	T	C	10: 79,380,573 (GRCm39)	N277S	probably damaging	Het
Morn1	A	G	4: 155,171,112 (GRCm39)	H17R	probably benign	Het
Nf2	A	T	11: 4,749,878 (GRCm39)	S265T	probably damaging	Het
Or5m11b	A	G	2: 85,805,700 (GRCm39)	T38A	possibly damaging	Het
Or8k24	G	A	2: 86,216,024 (GRCm39)	T246I	possibly damaging	Het
Palb2	A	G	7: 121,726,270 (GRCm39)		probably null	Het
Pdzd2	C	T	15: 12,385,951 (GRCm39)	V940M	probably damaging	Het
Phldb2	T	C	16: 45,598,138 (GRCm39)	K850E	probably damaging	Het
Pitx1	G	A	13: 55,976,335 (GRCm39)	T108M	probably damaging	Het
Polr2a	C	T	11: 69,626,787 (GRCm39)	A1516T	probably benign	Het
Pomp	T	A	5: 147,812,313 (GRCm39)	M133K	possibly damaging	Het
Prex1	T	C	2: 166,423,913 (GRCm39)	E993G	probably damaging	Het
Prrc2c	C	A	1: 162,533,075 (GRCm39)		probably benign	Het
Pwp2	C	A	10: 78,007,917 (GRCm39)	Q879H	probably damaging	Het
Rab26	G	A	17: 24,748,766 (GRCm39)	T245I	probably damaging	Het
Rapgef1	A	G	2: 29,592,514 (GRCm39)	D502G	probably damaging	Het
Rsf1	GGCG	GGCGACGGCCGCG	7: 97,229,113 (GRCm39)		probably benign	Het
Sema5a	T	A	15: 32,550,421 (GRCm39)	D153E	probably benign	Het
Sez6	C	G	11: 77,844,385 (GRCm39)	H69Q	probably damaging	Het
Sgsm3	A	T	15: 80,893,095 (GRCm39)	T391S	probably benign	Het
Sh3rf2	T	C	18: 42,234,670 (GRCm39)	V151A	possibly damaging	Het
Socs1	G	T	16: 10,602,266 (GRCm39)	A157E	probably benign	Het
Spmip4	T	A	6: 50,566,145 (GRCm39)	Q110L	possibly damaging	Het
Sptbn4	C	A	7: 27,071,375 (GRCm39)	V346L	possibly damaging	Het
Srgap1	T	A	10: 121,621,523 (GRCm39)	H990L	probably damaging	Het
Tbc1d9	G	T	8: 83,892,809 (GRCm39)	G36W	probably damaging	Het
Tbk1	T	C	10: 121,395,782 (GRCm39)	E437G	probably benign	Het
Tns3	A	G	11: 8,481,743 (GRCm39)	L203P	probably damaging	Het
Tspoap1	A	T	11: 87,656,638 (GRCm39)	K283M	probably damaging	Het
Ttyh1	C	T	7: 4,127,649 (GRCm39)		probably benign	Het
Ufd1	T	A	16: 18,645,850 (GRCm39)	I254N	probably benign	Het
Ugdh	T	G	5: 65,584,776 (GRCm39)	T49P	probably benign	Het
Vav3	T	C	3: 109,434,810 (GRCm39)	L447P	probably damaging	Het
Vmn1r216	A	T	13: 23,283,445 (GRCm39)	K43*	probably null	Het
Vmn2r111	T	C	17: 22,778,032 (GRCm39)	N549S	possibly damaging	Het
Vmn2r13	A	G	5: 109,306,015 (GRCm39)	I521T	possibly damaging	Het
Wdfy3	T	C	5: 101,991,932 (GRCm39)	T3470A	probably benign	Het
Wdhd1	T	A	14: 47,485,587 (GRCm39)	K791N	probably damaging	Het
Xirp2	A	G	2: 67,338,911 (GRCm39)	D384G	probably damaging	Het
Zfp512b	C	T	2: 181,232,273 (GRCm39)	R86Q	probably damaging	Het
Zfp735	A	C	11: 73,601,880 (GRCm39)	I275L	probably benign	Het
Zfp957	A	T	14: 79,451,344 (GRCm39)	S152T	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
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'- TGGCACTTTACACACAATACACTTC -3'
(R):5'- GCTTACTCTCAGAGGCTTGG -3'

Sequencing Primer
(F):5'- CATGGTCAGGTATCGCTT -3'
(R):5'- TTCGATGTAAATTCAACAGGAAGCG -3'

Posted On

2018-11-06