Mutagenetix > Incidental Mutation

Incidental Mutation 'R1970:Elovl4'

219745

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

039983-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1970 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

83660745-83688330 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 83662772 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 163 (Y163H)

Ref Sequence

ENSEMBL: ENSMUSP00000139163 (fasta)

Gene Model

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

AlphaFold

Q9EQC4

Predicted Effect

probably damaging
Transcript: ENSMUST00000034796
AA Change: Y254H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000034796
Gene: ENSMUSG00000032262
AA Change: Y254H

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000183614
AA Change: Y163H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000139163
Gene: ENSMUSG00000032262
AA Change: Y163H

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

Meta Mutation Damage Score

0.5044

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 96.8%
20x: 94.2%

Validation Efficiency

97% (121/125)

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: 121 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca17	A	T	17: 24,526,549 (GRCm39)	H578Q	probably benign	Het
Abcc12	A	G	8: 87,253,910 (GRCm39)	I958T	probably benign	Het
Abcg5	AATCATTTG	AG	17: 84,981,030 (GRCm39)		probably null	Het
Acap2	A	G	16: 30,952,345 (GRCm39)		probably null	Het
Adgrb1	T	C	15: 74,411,726 (GRCm39)		probably benign	Het
Akap6	T	A	12: 52,985,258 (GRCm39)	V897E	probably damaging	Het
Als2	A	T	1: 59,254,328 (GRCm39)	L343Q	probably benign	Het
Arhgap5	A	G	12: 52,589,376 (GRCm39)	I1275M	probably damaging	Het
Arnt	C	T	3: 95,355,704 (GRCm39)	S16L	possibly damaging	Het
Bglap3	C	T	3: 88,284,300 (GRCm39)		probably benign	Het
Blnk	T	C	19: 40,928,609 (GRCm39)		probably benign	Het
C1qtnf4	T	C	2: 90,720,003 (GRCm39)	M92T	probably damaging	Het
Ccdc177	G	A	12: 80,805,486 (GRCm39)	R263C	unknown	Het
Ccdc83	T	A	7: 89,893,362 (GRCm39)	S132C	probably damaging	Het
Cdc7	A	G	5: 107,120,940 (GRCm39)		probably benign	Het
Cgnl1	T	A	9: 71,632,817 (GRCm39)	N178I	probably benign	Het
Col27a1	C	T	4: 63,191,354 (GRCm39)		probably benign	Het
Col5a1	A	T	2: 27,876,766 (GRCm39)	M822L	unknown	Het
Coro7	T	C	16: 4,451,620 (GRCm39)	I451V	probably benign	Het
Csmd3	T	C	15: 48,536,927 (GRCm39)	T92A	probably damaging	Het
Ddc	A	G	11: 11,765,292 (GRCm39)	V460A	possibly damaging	Het
Ddx4	C	T	13: 112,736,547 (GRCm39)	V608I	probably damaging	Het
Ddx60	A	T	8: 62,425,240 (GRCm39)	H676L	possibly damaging	Het
Dmtf1	T	C	5: 9,198,989 (GRCm39)	E48G	probably benign	Het
Dpf3	T	A	12: 83,371,809 (GRCm39)		probably null	Het
Dydc2	A	G	14: 40,783,860 (GRCm39)	C88R	probably benign	Het
Enpp2	T	C	15: 54,746,378 (GRCm39)	D296G	probably damaging	Het
Fam83h	G	T	15: 75,878,419 (GRCm39)		probably benign	Het
Fbf1	T	A	11: 116,042,317 (GRCm39)	Q511L	possibly damaging	Het
Fhdc1	A	T	3: 84,362,158 (GRCm39)	L323Q	probably damaging	Het
Fmnl2	T	A	2: 52,995,588 (GRCm39)	V437D	possibly damaging	Het
Foxo3	A	G	10: 42,073,258 (GRCm39)	S420P	probably benign	Het
Foxp4	C	T	17: 48,186,796 (GRCm39)	R378Q	unknown	Het
Garem2	G	T	5: 30,322,172 (GRCm39)	G844*	probably null	Het
Glmp	T	C	3: 88,235,177 (GRCm39)	L269S	probably damaging	Het
Gm9915	T	C	1: 42,269,881 (GRCm39)		noncoding transcript	Het
Gnb4	A	T	3: 32,652,290 (GRCm39)	D27E	probably damaging	Het
Gnb5	A	G	9: 75,251,932 (GRCm39)		probably null	Het
Gpr161	T	G	1: 165,133,927 (GRCm39)	V63G	probably damaging	Het
Gsk3a	T	A	7: 24,929,146 (GRCm39)		probably benign	Het
Hapln2	T	C	3: 87,931,427 (GRCm39)		probably null	Het
Incenp	G	T	19: 9,862,851 (GRCm39)	T401N	unknown	Het
Kalrn	A	G	16: 33,797,894 (GRCm39)		probably null	Het
Kcnq3	A	G	15: 65,900,472 (GRCm39)		probably null	Het
Kif21b	T	C	1: 136,098,894 (GRCm39)	V1394A	probably damaging	Het
Klhl23	T	C	2: 69,664,030 (GRCm39)	C460R	probably damaging	Het
L3mbtl1	G	A	2: 162,801,492 (GRCm39)	A291T	probably damaging	Het
Lcp1	T	C	14: 75,437,946 (GRCm39)	S119P	probably damaging	Het
Ldhc	A	G	7: 46,519,175 (GRCm39)	I133V	probably benign	Het
Lmntd2	G	A	7: 140,791,972 (GRCm39)		probably benign	Het
Lpl	A	T	8: 69,349,454 (GRCm39)	K327*	probably null	Het
Lrp1b	T	C	2: 40,765,081 (GRCm39)	D2801G	probably damaging	Het
Mppe1	C	A	18: 67,362,843 (GRCm39)	A131S	probably benign	Het
Msh3	T	A	13: 92,386,328 (GRCm39)		probably benign	Het
Msh5	A	G	17: 35,252,576 (GRCm39)	I377T	probably damaging	Het
Myo1e	T	C	9: 70,276,055 (GRCm39)	F757L	probably benign	Het
Myof	A	T	19: 37,934,082 (GRCm39)	D955E	probably damaging	Het
Nckap1	C	T	2: 80,348,286 (GRCm39)	S889N	probably benign	Het
Ncor2	T	C	5: 125,115,982 (GRCm39)	D858G	probably damaging	Het
Neb	A	T	2: 52,153,917 (GRCm39)	V2398D	possibly damaging	Het
Nefl	C	G	14: 68,324,121 (GRCm39)	T453R	probably benign	Het
Nf1	A	G	11: 79,444,787 (GRCm39)	N371D	probably benign	Het
Nhsl3	A	G	4: 129,119,810 (GRCm39)		probably benign	Het
Nlrp4f	T	C	13: 65,341,905 (GRCm39)	Y580C	probably damaging	Het
Nme8	A	C	13: 19,836,492 (GRCm39)	L228R	probably damaging	Het
Numa1	C	T	7: 101,658,529 (GRCm39)	A1605V	probably damaging	Het
Ofd1	T	C	X: 165,210,210 (GRCm39)	Y205C	probably benign	Het
Or2ag12	T	A	7: 106,276,877 (GRCm39)	N272I	probably damaging	Het
Or2d3b	G	A	7: 106,513,453 (GRCm39)	G16D	probably damaging	Het
Or4k77	C	T	2: 111,199,421 (GRCm39)	S148L	probably benign	Het
Or8g55	T	A	9: 39,785,234 (GRCm39)	I221N	probably damaging	Het
Or8k3	T	A	2: 86,058,596 (GRCm39)	T240S	probably damaging	Het
Pclo	A	G	5: 14,763,487 (GRCm39)	T3987A	unknown	Het
Pdgfrb	G	A	18: 61,199,566 (GRCm39)		probably benign	Het
Pdxk	G	A	10: 78,276,988 (GRCm39)	T270I	probably damaging	Het
Pex5	T	C	6: 124,391,364 (GRCm39)	E10G	probably damaging	Het
Pik3c2g	T	A	6: 139,846,112 (GRCm39)		probably null	Het
Pkhd1	T	A	1: 20,451,747 (GRCm39)	I2183F	probably damaging	Het
Plppr2	T	C	9: 21,852,422 (GRCm39)	V102A	probably damaging	Het
Plxnd1	T	C	6: 115,939,478 (GRCm39)	T1449A	probably damaging	Het
Pnkd	T	A	1: 74,325,069 (GRCm39)		probably null	Het
Pom121l2	A	G	13: 22,167,642 (GRCm39)	I638V	probably damaging	Het
Prag1	A	G	8: 36,596,314 (GRCm39)		probably null	Het
Ranbp10	A	G	8: 106,513,340 (GRCm39)	F191L	probably damaging	Het
Rapgef1	T	C	2: 29,623,723 (GRCm39)	L824P	probably damaging	Het
Rec8	T	C	14: 55,861,599 (GRCm39)	L418P	probably damaging	Het
Rimbp2	T	A	5: 128,874,305 (GRCm39)	N429Y	probably damaging	Het
Rpe65	C	A	3: 159,321,307 (GRCm39)	T373K	probably benign	Het
Rpl35rt	T	G	1: 156,194,017 (GRCm39)	*124G	probably null	Het
Rrn3	T	C	16: 13,606,938 (GRCm39)	S151P	probably damaging	Het
Scn7a	A	G	2: 66,514,633 (GRCm39)	V1047A	possibly damaging	Het
Scn9a	G	T	2: 66,345,724 (GRCm39)	P1123Q	probably damaging	Het
Secisbp2l	T	C	2: 125,589,430 (GRCm39)	D706G	probably damaging	Het
Serpina5	A	T	12: 104,070,116 (GRCm39)	T338S	probably benign	Het
Sez6	G	A	11: 77,844,894 (GRCm39)		probably null	Het
Shisa4	C	T	1: 135,300,012 (GRCm39)	G157D	probably damaging	Het
Slc1a7	G	T	4: 107,825,782 (GRCm39)	D14Y	probably benign	Het
Slc25a11	A	C	11: 70,536,999 (GRCm39)	L51V	probably benign	Het
Slit3	A	G	11: 35,521,668 (GRCm39)		probably null	Het
Spata13	G	T	14: 60,928,912 (GRCm39)	G157W	probably damaging	Het
Spta1	T	C	1: 174,067,933 (GRCm39)	V2120A	possibly damaging	Het
Srpra	T	C	9: 35,124,834 (GRCm39)		probably null	Het
Syt6	A	G	3: 103,494,736 (GRCm39)	I234V	probably benign	Het
Thada	G	T	17: 84,617,470 (GRCm39)	P1349T	probably damaging	Het
Tmem161a	C	T	8: 70,629,559 (GRCm39)	R58W	probably damaging	Het
Top3b	A	G	16: 16,701,383 (GRCm39)	I232V	probably damaging	Het
Tspan1	T	A	4: 116,020,826 (GRCm39)	Q197L	possibly damaging	Het
Ttc28	A	C	5: 111,383,501 (GRCm39)	Y1334S	probably benign	Het
Ubxn6	G	T	17: 56,380,077 (GRCm39)	N28K	possibly damaging	Het
Uggt1	T	C	1: 36,190,862 (GRCm39)	D1366G	probably damaging	Het
Ugp2	A	G	11: 21,278,942 (GRCm39)	S415P	probably damaging	Het
Vcan	A	T	13: 89,837,157 (GRCm39)	S2796T	probably damaging	Het
Vipr2	T	C	12: 116,099,826 (GRCm39)	V231A	probably benign	Het
Vmn1r176	T	C	7: 23,534,373 (GRCm39)	N260S	probably benign	Het
Vmn1r59	A	T	7: 5,457,038 (GRCm39)	Y241N	probably damaging	Het
Vmn2r67	A	T	7: 84,801,013 (GRCm39)	Y308N	probably benign	Het
Vmn2r75	A	T	7: 85,797,470 (GRCm39)	M781K	probably damaging	Het
Vwa3a	A	T	7: 120,379,394 (GRCm39)	I500F	probably damaging	Het
Zfp609	A	G	9: 65,702,559 (GRCm39)	V31A	probably damaging	Het
Zfp689	G	T	7: 127,043,959 (GRCm39)	Q224K	probably damaging	Het
Zfp81	A	T	17: 33,554,475 (GRCm39)	L113H	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
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'- TACCGGTTAAGGCCCAGTTC -3'
(R):5'- AGGCAGATTCTCAAACAGTAGAGC -3'

Sequencing Primer
(F):5'- CGGTTAAGGCCCAGTTCAATTTAC -3'
(R):5'- GATTCTCAAACAGTAGAGCACAGC -3'

Posted On

2014-08-25