Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02331:Elovl5'

288664

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Elovl5

Ensembl Gene

ENSMUSG00000032349

Gene Name

ELOVL fatty acid elongase 5

Synonyms

ELOVL family member 5, elongation of long chain fatty acids (yeast), 1110059L23Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02331

Quality Score

Status

Chromosome

Chromosomal Location

77824647-77891801 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 77887181 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 191 (S191P)

Ref Sequence

ENSEMBL: ENSMUSP00000034904 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034904] [ENSMUST00000133757]

AlphaFold

Q8BHI7

Predicted Effect

possibly damaging
Transcript: ENSMUST00000034904
AA Change: S191P

PolyPhen 2 Score 0.806 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000034904
Gene: ENSMUSG00000032349
AA Change: S191P

Domain	Start	End	E-Value	Type
Pfam:ELO	27	262	2.3e-68	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000133757

SMART Domains

Protein: ENSMUSP00000123121
Gene: ENSMUSG00000032349

Domain	Start	End	E-Value	Type
Pfam:ELO	27	180	4.6e-46	PFAM

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene belongs to the ELO family. It is highly expressed in the adrenal gland and testis, and encodes a multi-pass membrane protein that is localized in the endoplasmic reticulum. This protein is involved in the elongation of long-chain polyunsaturated fatty acids. Mutations in this gene have been associated with spinocerebellar ataxia-38 (SCA38). Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Sep 2014]
PHENOTYPE: Mice homozygous for a gene trapped allele have defects in fatty acid synthesis in the liver that result in hepatic steatosis. Also, majority of female mice have defects in female fertility. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ace	T	G	11: 105,862,170 (GRCm39)	F241L	possibly damaging	Het
Alx1	A	G	10: 102,858,160 (GRCm39)	F180L	possibly damaging	Het
Apaf1	T	C	10: 90,895,481 (GRCm39)	D428G	probably damaging	Het
Arap2	G	T	5: 62,807,025 (GRCm39)		probably benign	Het
Arnt2	A	G	7: 83,914,832 (GRCm39)	Y511H	probably damaging	Het
Bmp7	A	T	2: 172,714,724 (GRCm39)	C362S	probably damaging	Het
Bpifb9a	A	G	2: 154,104,307 (GRCm39)	D250G	possibly damaging	Het
Ccnk	T	A	12: 108,155,343 (GRCm39)	L100H	probably damaging	Het
Cdh23	T	C	10: 60,301,322 (GRCm39)	I451V	probably damaging	Het
Cemip	A	G	7: 83,613,192 (GRCm39)		probably null	Het
Cep78	T	A	19: 15,951,779 (GRCm39)	Q342L	probably benign	Het
Clca3b	T	C	3: 144,547,167 (GRCm39)		probably benign	Het
Cpb2	A	G	14: 75,520,844 (GRCm39)	R420G	possibly damaging	Het
Cyp2c50	A	T	19: 40,079,387 (GRCm39)		probably null	Het
Dbnl	T	C	11: 5,749,997 (GRCm39)	*433R	probably null	Het
Fbxo42	A	G	4: 140,895,157 (GRCm39)	E40G	probably benign	Het
Fpgt	T	C	3: 154,793,499 (GRCm39)	D176G	possibly damaging	Het
Gm1110	C	A	9: 26,824,583 (GRCm39)		probably null	Het
Grik4	A	T	9: 42,453,284 (GRCm39)	S700R	probably damaging	Het
Herc4	T	C	10: 63,099,939 (GRCm39)	S121P	probably benign	Het
Hps4	T	C	5: 112,517,402 (GRCm39)	V263A	probably benign	Het
Hsd11b1	A	C	1: 192,922,924 (GRCm39)	L81R	probably damaging	Het
Ift122	T	C	6: 115,864,285 (GRCm39)	M310T	probably damaging	Het
Isg20l2	G	T	3: 87,839,394 (GRCm39)	V202L	probably damaging	Het
Klf3	A	G	5: 64,986,415 (GRCm39)	K111E	probably damaging	Het
Kxd1	T	C	8: 70,968,090 (GRCm39)	T128A	probably benign	Het
Lgals7	A	G	7: 28,565,143 (GRCm39)	T94A	probably benign	Het
Lrp5	T	C	19: 3,641,816 (GRCm39)	H1382R	possibly damaging	Het
Muc6	T	C	7: 141,226,726 (GRCm39)	T1434A	possibly damaging	Het
Mybl2	C	T	2: 162,916,605 (GRCm39)	R419W	probably damaging	Het
Myo5b	A	T	18: 74,771,111 (GRCm39)		probably null	Het
Myo7a	A	G	7: 97,702,389 (GRCm39)	V2138A	possibly damaging	Het
Naip1	T	A	13: 100,563,304 (GRCm39)	K620N	probably benign	Het
Ntrk2	T	C	13: 58,994,670 (GRCm39)		probably null	Het
Or8g21	A	G	9: 38,906,402 (GRCm39)	S110P	probably damaging	Het
Osbpl5	A	G	7: 143,263,532 (GRCm39)	V105A	probably benign	Het
Pfkp	A	C	13: 6,647,996 (GRCm39)	F527V	probably benign	Het
Pilra	C	A	5: 137,833,917 (GRCm39)	G47*	probably null	Het
Pkdrej	C	A	15: 85,705,528 (GRCm39)	C136F	probably damaging	Het
Ppp1r16a	T	A	15: 76,575,200 (GRCm39)	M36K	probably benign	Het
Rita1	C	T	5: 120,747,858 (GRCm39)	A147T	probably damaging	Het
Rnf40	T	C	7: 127,188,999 (GRCm39)	V124A	probably benign	Het
St7l	A	G	3: 104,833,904 (GRCm39)	T522A	probably damaging	Het
Stox2	G	A	8: 47,644,979 (GRCm39)	P891L	probably damaging	Het
Trbv12-1	T	C	6: 41,090,972 (GRCm39)	S115P	probably damaging	Het
Trpm1	A	G	7: 63,884,800 (GRCm39)	D827G	probably benign	Het
Ttll6	T	A	11: 96,026,573 (GRCm39)	M119K	probably damaging	Het
Ufl1	C	A	4: 25,251,971 (GRCm39)	C568F	probably damaging	Het
Usp29	A	T	7: 6,965,155 (GRCm39)	I333F	probably benign	Het
Vta1	G	A	10: 14,581,138 (GRCm39)	T23M	probably damaging	Het
Zswim8	A	G	14: 20,773,325 (GRCm39)	D1771G	probably damaging	Het

Other mutations in Elovl5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00561:Elovl5	APN	9	77,868,256 (GRCm39)	missense	probably benign	0.12
IGL01017:Elovl5	APN	9	77,888,853 (GRCm39)	missense	possibly damaging	0.67
IGL02851:Elovl5	APN	9	77,888,784 (GRCm39)	missense	probably damaging	1.00
IGL03011:Elovl5	APN	9	77,890,066 (GRCm39)	missense	probably benign	0.32
euge	UTSW	9	77,887,105 (GRCm39)	critical splice acceptor site	probably null
laid-up	UTSW	9	77,888,784 (GRCm39)	missense	probably damaging	0.99
R0452:Elovl5	UTSW	9	77,868,193 (GRCm39)	missense	probably damaging	1.00
R0494:Elovl5	UTSW	9	77,868,199 (GRCm39)	missense	probably benign	0.05
R3706:Elovl5	UTSW	9	77,887,119 (GRCm39)	missense	probably null	1.00
R4353:Elovl5	UTSW	9	77,868,199 (GRCm39)	missense	probably benign	0.05
R6211:Elovl5	UTSW	9	77,888,784 (GRCm39)	missense	probably damaging	0.99
R6640:Elovl5	UTSW	9	77,887,195 (GRCm39)	nonsense	probably null
R7804:Elovl5	UTSW	9	77,887,105 (GRCm39)	critical splice acceptor site	probably null
R8179:Elovl5	UTSW	9	77,884,181 (GRCm39)	missense	probably damaging	1.00
R8940:Elovl5	UTSW	9	77,890,007 (GRCm39)	missense	possibly damaging	0.82
R9474:Elovl5	UTSW	9	77,890,007 (GRCm39)	missense	possibly damaging	0.82
R9667:Elovl5	UTSW	9	77,889,947 (GRCm39)	missense	possibly damaging	0.74
R9685:Elovl5	UTSW	9	77,868,291 (GRCm39)	missense	probably damaging	1.00
RF031:Elovl5	UTSW	9	77,888,755 (GRCm39)	critical splice acceptor site	probably null
Z1176:Elovl5	UTSW	9	77,884,037 (GRCm39)	missense	possibly damaging	0.48

Posted On

2015-04-16