Mutagenetix > Incidental Mutations

Incidental Mutation 'R0452:Elovl5'

39696

Institutional Source

Beutler Lab

Gene Symbol

Elovl5

Ensembl Gene

ENSMUSG00000032349

Gene Name

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

Synonyms

1110059L23Rik

MMRRC Submission

038652-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0452 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

77917364-77984519 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 77960911 bp

Zygosity

Heterozygous

Amino Acid Change

Threonine to Methionine at position 35 (T35M)

Ref Sequence

ENSEMBL: ENSMUSP00000120171 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034904] [ENSMUST00000133757] [ENSMUST00000134072]

Predicted Effect

probably damaging
Transcript: ENSMUST00000034904
AA Change: T35M

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

SMART Domains

Protein: ENSMUSP00000034904
Gene: ENSMUSG00000032349
AA Change: T35M

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000133757
AA Change: T35M

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

SMART Domains

Protein: ENSMUSP00000123121
Gene: ENSMUSG00000032349
AA Change: T35M

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000134072
AA Change: T35M

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

SMART Domains

Protein: ENSMUSP00000120171
Gene: ENSMUSG00000032349
AA Change: T35M

Domain	Start	End	E-Value	Type
Pfam:ELO	27	70	3.5e-8	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148398

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.6%
20x: 93.7%

Validation Efficiency

99% (93/94)

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: 90 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
6030452D12Rik	A	G	8: 106,507,190		probably benign	Het
Acap3	C	A	4: 155,902,328	S347*	probably null	Het
Acvr1	G	A	2: 58,500,495	P19L	probably benign	Het
Add2	G	T	6: 86,104,629	E366*	probably null	Het
Ankrd28	C	A	14: 31,748,738	A153S	probably damaging	Het
Anxa8	A	T	14: 34,094,770	I206F	probably damaging	Het
Arhgef4	G	A	1: 34,732,322	E1237K	probably damaging	Het
Arid1a	C	T	4: 133,689,105	A1120T	unknown	Het
Atad5	T	C	11: 80,106,421	V857A	probably damaging	Het
Atp2a3	T	A	11: 72,977,232		probably null	Het
Atxn1l	C	T	8: 109,732,395	V412I	possibly damaging	Het
Card11	A	G	5: 140,880,370	S923P	probably benign	Het
Cars	C	A	7: 143,592,625	E21*	probably null	Het
Ccdc115	A	G	1: 34,437,621		probably benign	Het
Ccnj	T	A	19: 40,845,064		probably null	Het
Cds2	C	T	2: 132,298,479	T182I	probably damaging	Het
Ceacam14	A	G	7: 17,815,323	H213R	probably benign	Het
Cfap44	A	T	16: 44,431,945	M806L	probably benign	Het
Chd8	A	T	14: 52,214,587	I1317K	probably damaging	Het
Cherp	A	T	8: 72,461,522		probably benign	Het
Creb5	C	G	6: 53,604,542	T30S	possibly damaging	Het
Csf2ra	A	G	19: 61,226,895	M94T	probably benign	Het
Cyp2b19	A	C	7: 26,766,762	D330A	probably benign	Het
Ddost	G	A	4: 138,310,188	V188M	possibly damaging	Het
Dnah7a	A	T	1: 53,605,819	D1019E	probably benign	Het
Dtx1	A	T	5: 120,694,992	I127N	possibly damaging	Het
Dyrk2	T	C	10: 118,868,763	T3A	possibly damaging	Het
Emc7	T	C	2: 112,466,969		probably benign	Het
Erp27	T	C	6: 136,909,489	Y182C	probably damaging	Het
Exoc2	T	A	13: 30,886,327		probably benign	Het
F5	A	C	1: 164,185,107	D530A	probably damaging	Het
Fam149a	A	T	8: 45,355,649	V149E	probably damaging	Het
Fbxo41	A	G	6: 85,478,182	S614P	probably damaging	Het
Fmn1	T	A	2: 113,636,779	Y1342N	possibly damaging	Het
Gm10334	A	G	6: 41,445,337	Y45H	probably benign	Het
Gpr22	T	A	12: 31,708,794	D443V	possibly damaging	Het
Il17rd	T	A	14: 27,091,931	W56R	probably damaging	Het
Itga2b	A	T	11: 102,465,953		probably null	Het
Jmjd1c	T	C	10: 67,255,482	M2514T	probably benign	Het
Klk9	T	C	7: 43,794,251		probably benign	Het
Krr1	T	C	10: 111,975,598	Y66H	probably damaging	Het
Lamb2	T	C	9: 108,486,354		probably benign	Het
Lgals3bp	A	T	11: 118,393,464	Y430N	probably benign	Het
Lrp10	T	C	14: 54,467,579	V113A	probably benign	Het
Mgam	A	G	6: 40,759,090	Y841C	probably damaging	Het
Nisch	T	A	14: 31,177,464		probably benign	Het
Nlrp4d	G	A	7: 10,378,292	T650I	probably benign	Het
Olfr1314	T	A	2: 112,092,636	K22*	probably null	Het
Olfr506	C	T	7: 108,612,370	T21I	possibly damaging	Het
Parp4	A	G	14: 56,648,843	D1793G	unknown	Het
Pcm1	A	G	8: 41,325,905	D1850G	probably benign	Het
Pgap2	G	A	7: 102,236,462	A145T	probably damaging	Het
Phc1	G	A	6: 122,323,036	A583V	probably damaging	Het
Plcd3	G	A	11: 103,071,259		probably benign	Het
Ppm1m	T	A	9: 106,197,302	Q214L	probably damaging	Het
Prkg2	A	G	5: 98,997,520		probably benign	Het
Rasal3	T	C	17: 32,395,817		probably benign	Het
Rfc1	A	T	5: 65,264,297	D1086E	probably benign	Het
Rnf145	T	A	11: 44,561,760	L522H	probably damaging	Het
Setd2	T	A	9: 110,553,100		probably null	Het
Sik1	C	A	17: 31,849,081	V377F	possibly damaging	Het
Slc44a4	T	C	17: 34,928,095	I367T	possibly damaging	Het
Slfn3	A	G	11: 83,213,128	D275G	possibly damaging	Het
Smarcad1	A	T	6: 65,074,822	N313I	possibly damaging	Het
Smc4	A	T	3: 69,008,028	K138*	probably null	Het
Smg6	T	A	11: 74,930,213	S437T	probably benign	Het
Spaca9	G	T	2: 28,695,993	Q20K	probably damaging	Het
Spatc1	T	G	15: 76,268,293	I41S	probably damaging	Het
Spink5	A	T	18: 43,963,318	T5S	possibly damaging	Het
St3gal1	C	A	15: 67,109,655		probably benign	Het
Stat5a	C	A	11: 100,863,135	T97K	probably benign	Het
Stat5b	A	T	11: 100,798,330	I246N	probably benign	Het
Supt6	G	T	11: 78,227,003	D462E	probably damaging	Het
Swi5	A	T	2: 32,281,824		probably benign	Het
Syne1	A	T	10: 5,405,435	V375E	probably damaging	Het
Tcp1	T	C	17: 12,924,352	F516S	probably benign	Het
Tdrd7	A	T	4: 45,965,488		probably benign	Het
Tgfbr3	A	T	5: 107,140,423	N457K	probably benign	Het
Tmem209	A	G	6: 30,487,381	M500T	probably damaging	Het
Tmem44	C	T	16: 30,517,463		probably benign	Het
Ttc21a	T	A	9: 119,939,154		probably benign	Het
Ttn	T	A	2: 76,836,003	I88F	possibly damaging	Het
Ttn	A	G	2: 76,871,110		probably benign	Het
Ube2w	T	C	1: 16,602,255		probably benign	Het
Ufc1	C	T	1: 171,289,954		probably benign	Het
Uhmk1	A	G	1: 170,212,402	M132T	possibly damaging	Het
Usp29	A	G	7: 6,963,182	N675D	possibly damaging	Het
Vmn1r23	A	G	6: 57,926,484	V103A	possibly damaging	Het
Wdr59	G	T	8: 111,521,972	R4S	possibly damaging	Het
Zc3hav1	T	A	6: 38,307,437	E914D	probably benign	Het

Other mutations in Elovl5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00561:Elovl5	APN	9	77960974	missense	probably benign	0.12
IGL01017:Elovl5	APN	9	77981571	missense	possibly damaging	0.67
IGL02331:Elovl5	APN	9	77979899	missense	possibly damaging	0.81
IGL02851:Elovl5	APN	9	77981502	missense	probably damaging	1.00
IGL03011:Elovl5	APN	9	77982784	missense	probably benign	0.32
laid-up	UTSW	9	77981502	missense	probably damaging	0.99
R0494:Elovl5	UTSW	9	77960917	missense	probably benign	0.05
R3706:Elovl5	UTSW	9	77979837	missense	probably null	1.00
R4353:Elovl5	UTSW	9	77960917	missense	probably benign	0.05
R6211:Elovl5	UTSW	9	77981502	missense	probably damaging	0.99
R6640:Elovl5	UTSW	9	77979913	nonsense	probably null
R7804:Elovl5	UTSW	9	77979823	critical splice acceptor site	probably null
RF031:Elovl5	UTSW	9	77981473	critical splice acceptor site	probably null
Z1176:Elovl5	UTSW	9	77976755	missense	possibly damaging	0.48

Predicted Primers

PCR Primer
(F):5'- GTCTGATCATGGCCGAGCCAATAG -3'
(R):5'- GCCTTTCTTCACGTAGGGACACAC -3'

Sequencing Primer
(F):5'- TGAAGGGCACACTGCTTG -3'
(R):5'- TAGGGACACACCTCAGGC -3'

Posted On

2013-05-23