Mutagenetix > Incidental Mutation

Incidental Mutation 'R0016:Elovl3'

32730

Institutional Source

Beutler Lab

Gene Symbol

Elovl3

Ensembl Gene

ENSMUSG00000038754

Gene Name

ELOVL fatty acid elongase 3

Synonyms

CIN-2, Cig30, elongation of very long chain fatty acids (FEN1/Elo2, SUR4/Elo3, yeast)-like 3

MMRRC Submission

038311-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.085) question?

Stock #

R0016 (G1)

Quality Score

225

Status

Validated (trace)

Chromosome

Chromosomal Location

46120336-46124133 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 46120597 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Tyrosine at position 30 (F30Y)

Ref Sequence

ENSEMBL: ENSMUSP00000036357 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000026259] [ENSMUST00000043739] [ENSMUST00000172971]

AlphaFold

O35949

Predicted Effect

probably benign
Transcript: ENSMUST00000026259

SMART Domains

Protein: ENSMUSP00000026259
Gene: ENSMUSG00000025229

Domain	Start	End	E-Value	Type
HOX	62	124	3.48e-26	SMART
low complexity region	157	174	N/A	INTRINSIC
low complexity region	189	236	N/A	INTRINSIC
low complexity region	240	252	N/A	INTRINSIC
Pfam:OAR	258	276	3e-11	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000043739
AA Change: F30Y

PolyPhen 2 Score 0.971 (Sensitivity: 0.77; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000036357
Gene: ENSMUSG00000038754
AA Change: F30Y

Domain	Start	End	E-Value	Type
Pfam:ELO	30	267	2.9e-66	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000172971

SMART Domains

Protein: ENSMUSP00000134563
Gene: ENSMUSG00000025229

Domain	Start	End	E-Value	Type
Pfam:Homeobox	63	91	1e-8	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000172980

Meta Mutation Damage Score

0.4092

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.4%
20x: 93.2%

Validation Efficiency

100% (58/58)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that belongs to the GNS1/SUR4 family. Members of this family play a role in elongation of long chain fatty acids to provide precursors for synthesis of sphingolipids and ceramides. [provided by RefSeq, Jul 2013]
PHENOTYPE: Homozygous mutants have a sparse coat, hyperplastic pilosebaceous system, and abnormal hair lipid content with high levels of eicosenoic acid. Liver and brown adipose tissue functions are normal. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca12	A	C	1: 71,333,959 (GRCm39)	V1181G	probably benign	Het
Adamts12	A	T	15: 11,217,915 (GRCm39)	I291F	probably damaging	Het
Aspm	G	C	1: 139,407,282 (GRCm39)	Q2056H	probably benign	Het
C7	A	T	15: 5,076,406 (GRCm39)	V122E	probably benign	Het
Casp12	A	T	9: 5,352,844 (GRCm39)	Q152L	probably null	Het
Cdh16	T	A	8: 105,344,264 (GRCm39)	T92S	probably benign	Het
Chrd	G	C	16: 20,553,058 (GRCm39)	V162L	possibly damaging	Het
Cpne8	A	G	15: 90,385,608 (GRCm39)		probably benign	Het
Cspg4b	T	C	13: 113,502,639 (GRCm39)	Y115H	probably damaging	Het
Cyp2j7	T	A	4: 96,090,384 (GRCm39)	I347F	probably damaging	Het
Cyp4a10	A	T	4: 115,378,304 (GRCm39)	Q130L	probably damaging	Het
Dach1	C	T	14: 98,406,184 (GRCm39)	G188R	probably damaging	Het
Dgkd	T	C	1: 87,845,674 (GRCm39)	S294P	probably benign	Het
Dnah8	A	G	17: 30,882,290 (GRCm39)	I621V	probably benign	Het
Dync2h1	A	G	9: 7,144,346 (GRCm39)		probably benign	Het
Echdc1	A	T	10: 29,198,417 (GRCm39)		probably benign	Het
Fa2h	T	C	8: 112,120,146 (GRCm39)	Y80C	probably damaging	Het
Fgd3	C	T	13: 49,450,085 (GRCm39)	D55N	probably benign	Het
Fhod1	T	C	8: 106,058,287 (GRCm39)	E823G	possibly damaging	Het
Gapvd1	A	G	2: 34,589,925 (GRCm39)		probably benign	Het
Gm17067	A	T	7: 42,358,046 (GRCm39)	I152K	probably benign	Het
Gvin3	G	A	7: 106,202,453 (GRCm39)	L264F	probably benign	Het
Kif27	A	G	13: 58,502,528 (GRCm39)	V50A	probably damaging	Het
Kpna2	T	C	11: 106,881,912 (GRCm39)	T305A	probably benign	Het
Krtap22-2	A	G	16: 88,807,407 (GRCm39)		probably benign	Het
Lrp2bp	T	A	8: 46,465,068 (GRCm39)	F62L	probably damaging	Het
Marf1	G	A	16: 13,970,129 (GRCm39)	H197Y	probably damaging	Het
Mob3b	A	G	4: 35,083,947 (GRCm39)	F81L	probably benign	Het
Mon2	C	T	10: 122,871,451 (GRCm39)	V389M	probably damaging	Het
Myef2l	A	T	3: 10,154,379 (GRCm39)	M383L	possibly damaging	Het
Myh8	A	G	11: 67,189,351 (GRCm39)	K1176E	probably damaging	Het
Naf1	T	C	8: 67,341,707 (GRCm39)		probably benign	Het
Nckap1l	A	G	15: 103,384,063 (GRCm39)	T554A	probably benign	Het
Oog3	A	G	4: 143,884,641 (GRCm39)	Y432H	probably damaging	Het
Paxbp1	A	T	16: 90,832,924 (GRCm39)		probably benign	Het
Phf20	A	T	2: 156,109,114 (GRCm39)	K154*	probably null	Het
Pip4p1	C	T	14: 51,166,351 (GRCm39)	R213Q	probably damaging	Het
Plekhj1	T	C	10: 80,632,250 (GRCm39)	D74G	possibly damaging	Het
Plpp4	T	C	7: 128,925,148 (GRCm39)	C128R	probably damaging	Het
Rcan3	A	T	4: 135,145,689 (GRCm39)		probably null	Het
Sh3rf1	T	A	8: 61,827,172 (GRCm39)	M642K	probably benign	Het
Slc7a1	A	G	5: 148,271,393 (GRCm39)	V522A	probably benign	Het
Sorbs1	A	G	19: 40,303,182 (GRCm39)		probably benign	Het
Spry2	C	T	14: 106,130,731 (GRCm39)	V152M	probably benign	Het
Srgap2	A	G	1: 131,277,200 (GRCm39)	M349T	possibly damaging	Het
Stag3	A	G	5: 138,289,643 (GRCm39)	H271R	possibly damaging	Het
Stat4	T	C	1: 52,107,939 (GRCm39)	V136A	probably benign	Het
Stc2	A	T	11: 31,310,177 (GRCm39)	D286E	probably benign	Het
Stk31	T	C	6: 49,414,311 (GRCm39)	Y482H	probably damaging	Het
Tasor2	A	C	13: 3,635,170 (GRCm39)		probably null	Het
Ticrr	C	T	7: 79,343,540 (GRCm39)	P1135L	probably benign	Het
Trim27	A	T	13: 21,375,399 (GRCm39)	E310V	probably benign	Het
Uvrag	T	C	7: 98,641,188 (GRCm39)	K284R	probably benign	Het
Vmn1r78	A	C	7: 11,887,279 (GRCm39)	S297R	probably benign	Het
Xylt2	A	G	11: 94,560,466 (GRCm39)	S270P	probably damaging	Het
Zfhx3	T	C	8: 109,676,810 (GRCm39)	M2620T	probably benign	Het
Zkscan2	C	A	7: 123,099,219 (GRCm39)		probably benign	Het
Zwint	T	C	10: 72,493,030 (GRCm39)		probably benign	Het

Other mutations in Elovl3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02578:Elovl3	APN	19	46,123,132 (GRCm39)	missense	possibly damaging	0.54
R0016:Elovl3	UTSW	19	46,120,597 (GRCm39)	missense	probably damaging	0.97
R2040:Elovl3	UTSW	19	46,121,567 (GRCm39)	missense	probably benign	0.11
R2074:Elovl3	UTSW	19	46,120,606 (GRCm39)	missense	probably damaging	0.99
R2311:Elovl3	UTSW	19	46,121,639 (GRCm39)	missense	probably benign
R4866:Elovl3	UTSW	19	46,120,603 (GRCm39)	missense	possibly damaging	0.86
R5092:Elovl3	UTSW	19	46,122,961 (GRCm39)	missense	probably damaging	1.00
R5265:Elovl3	UTSW	19	46,123,120 (GRCm39)	missense	probably damaging	0.99
R5278:Elovl3	UTSW	19	46,122,540 (GRCm39)	missense	probably benign	0.00
R5375:Elovl3	UTSW	19	46,123,135 (GRCm39)	missense	probably benign	0.07
R6220:Elovl3	UTSW	19	46,122,939 (GRCm39)	missense	probably benign	0.32
R7267:Elovl3	UTSW	19	46,122,979 (GRCm39)	missense	probably damaging	1.00
R7937:Elovl3	UTSW	19	46,123,168 (GRCm39)	missense	probably damaging	1.00
R9008:Elovl3	UTSW	19	46,123,087 (GRCm39)	missense	possibly damaging	0.70
R9319:Elovl3	UTSW	19	46,122,507 (GRCm39)	missense	possibly damaging	0.92
R9723:Elovl3	UTSW	19	46,123,155 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ATATACGGCAGGCACGGTCACT -3'
(R):5'- AAACCGCTTCATTCCGGTCAATCT -3'

Sequencing Primer
(F):5'- CTGGTTAGCAGCGCACG -3'
(R):5'- ATTCCGGTCAATCTCTCCTCAG -3'

Posted On

2013-05-09