Mutagenetix > Incidental Mutation

Incidental Mutation 'R1521:Elovl1'

166966

Institutional Source

Beutler Lab

Gene Symbol

Elovl1

Ensembl Gene

ENSMUSG00000006390

Gene Name

elongation of very long chain fatty acids (FEN1/Elo2, SUR4/Elo3, yeast)-like 1

Synonyms

Ssc1

MMRRC Submission

040870-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1521 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

118428093-118432953 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 118432000 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 241 (T241S)

Ref Sequence

ENSEMBL: ENSMUSP00000006557 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000006557] [ENSMUST00000006565] [ENSMUST00000067896] [ENSMUST00000102673] [ENSMUST00000167636]

AlphaFold

Q9JLJ5

Predicted Effect

probably benign
Transcript: ENSMUST00000006557
AA Change: T241S

PolyPhen 2 Score 0.135 (Sensitivity: 0.92; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000006557
Gene: ENSMUSG00000006390
AA Change: T241S

Domain	Start	End	E-Value	Type
Pfam:ELO	23	263	3.1e-66	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000006565

SMART Domains

Protein: ENSMUSP00000006565
Gene: ENSMUSG00000006398

Domain	Start	End	E-Value	Type
WD40	169	210	7.36e1	SMART
WD40	215	254	3.64e-2	SMART
WD40	257	294	9.6e-2	SMART
WD40	298	337	1.62e-8	SMART
WD40	344	386	8.29e-6	SMART
WD40	389	429	2.21e1	SMART
WD40	432	471	7.85e-7	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000067896
AA Change: T241S

PolyPhen 2 Score 0.040 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000064816
Gene: ENSMUSG00000006390
AA Change: T241S

Domain	Start	End	E-Value	Type
Pfam:ELO	23	262	8.5e-67	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000102673
AA Change: T164S

PolyPhen 2 Score 0.066 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000099734
Gene: ENSMUSG00000006390
AA Change: T164S

Domain	Start	End	E-Value	Type
Pfam:ELO	2	186	5.8e-52	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000129419

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000135162

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143140

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151302

Predicted Effect

probably benign
Transcript: ENSMUST00000167636
AA Change: T241S

PolyPhen 2 Score 0.040 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000126685
Gene: ENSMUSG00000006390
AA Change: T241S

Domain	Start	End	E-Value	Type
Pfam:ELO	23	263	3.1e-66	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000183942

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 94.6%

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice hoozygous for a targeted allele exhibit complete neonatal lethality, abnormal skin morphology, impaired skin barrier function, decreased weight and impaired formation of very long chain fatty acids. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 118 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adat1	A	G	8: 111,987,235 (GRCm38)	L104P	possibly damaging	Het
Adgrf5	T	C	17: 43,430,552 (GRCm38)	V360A	probably benign	Het
Ahnak	G	A	19: 9,004,728 (GRCm38)	M1125I	probably benign	Het
Akap12	T	C	10: 4,354,804 (GRCm38)	V538A	probably benign	Het
Arhgef10l	T	C	4: 140,515,438 (GRCm38)	D1088G	possibly damaging	Het
Atp7b	A	T	8: 22,027,673 (GRCm38)	L268Q	probably damaging	Het
Atxn2	A	C	5: 121,779,591 (GRCm38)	N516T	probably damaging	Het
Cacna1h	T	C	17: 25,397,354 (GRCm38)	M184V	possibly damaging	Het
Cacnb2	G	T	2: 14,614,352 (GRCm38)	R66L	probably benign	Het
Casp8ap2	A	G	4: 32,631,867 (GRCm38)	E96G	probably damaging	Het
Ccdc78	G	T	17: 25,788,781 (GRCm38)	R264L	probably damaging	Het
Cdh4	G	A	2: 179,797,558 (GRCm38)	R166H	probably damaging	Het
Cog7	C	T	7: 121,930,574 (GRCm38)	D615N	possibly damaging	Het
Crtc2	T	C	3: 90,257,383 (GRCm38)	V115A	probably benign	Het
Crybg1	A	G	10: 43,998,416 (GRCm38)	S899P	probably damaging	Het
Ctdnep1	T	A	11: 69,988,635 (GRCm38)	V128E	probably damaging	Het
Ctnna3	A	G	10: 64,959,842 (GRCm38)	K780E	probably benign	Het
Cul7	T	A	17: 46,663,190 (GRCm38)	L1467H	probably damaging	Het
Dazap2	T	A	15: 100,618,065 (GRCm38)	Y91*	probably null	Het
Dcdc5	T	C	2: 106,351,669 (GRCm38)		noncoding transcript	Het
Dppa1	T	A	11: 46,610,473 (GRCm38)	R74S	possibly damaging	Het
Eya1	G	T	1: 14,274,550 (GRCm38)	Q86K	probably damaging	Het
Fam71a	T	A	1: 191,164,022 (GRCm38)	R141S	probably benign	Het
Fancm	A	T	12: 65,121,704 (GRCm38)	M1614L	probably benign	Het
Fcgbp	C	T	7: 28,075,160 (GRCm38)	T53I	probably benign	Het
Fpr3	T	A	17: 17,971,015 (GRCm38)	W183R	probably damaging	Het
Galnt13	G	A	2: 54,854,645 (GRCm38)	V119I	probably benign	Het
Gcfc2	T	C	6: 81,923,812 (GRCm38)	S36P	probably benign	Het
Gdap2	T	A	3: 100,194,615 (GRCm38)	D412E	possibly damaging	Het
Gm10184	T	A	17: 89,910,306 (GRCm38)	N4I	possibly damaging	Het
Gm12258	T	C	11: 58,859,555 (GRCm38)	C41R	probably damaging	Het
Grrp1	T	C	4: 134,251,350 (GRCm38)	*272W	probably null	Het
Hipk1	T	G	3: 103,777,782 (GRCm38)	E172D	probably benign	Het
Hmgcs1	T	G	13: 119,703,591 (GRCm38)	L326R	probably benign	Het
Hs6st1	C	A	1: 36,068,886 (GRCm38)	R77S	probably damaging	Het
Ifit3	A	T	19: 34,587,173 (GRCm38)	N40Y	probably damaging	Het
Il1a	T	A	2: 129,304,741 (GRCm38)	Q144L	possibly damaging	Het
Itga7	A	G	10: 128,957,811 (GRCm38)	E1128G	possibly damaging	Het
Itih2	T	C	2: 10,106,747 (GRCm38)	D460G	probably damaging	Het
Ivns1abp	G	A	1: 151,351,558 (GRCm38)	C39Y	probably damaging	Het
Kif22	G	T	7: 127,027,839 (GRCm38)	A646E	probably damaging	Het
Klhl29	T	C	12: 5,091,307 (GRCm38)	Y559C	probably damaging	Het
Klhl7	T	A	5: 24,149,110 (GRCm38)		probably null	Het
Klhl9	A	G	4: 88,721,993 (GRCm38)	S4P	probably benign	Het
Klk10	A	G	7: 43,782,880 (GRCm38)	Q79R	probably benign	Het
Klk6	T	C	7: 43,829,275 (GRCm38)		probably null	Het
Lamc2	C	T	1: 153,166,263 (GRCm38)	E42K	probably benign	Het
Lingo3	T	C	10: 80,835,721 (GRCm38)	D125G	probably benign	Het
Map1b	T	C	13: 99,432,739 (GRCm38)	N1158S	unknown	Het
Masp1	T	A	16: 23,494,637 (GRCm38)	N183Y	probably damaging	Het
Mdga2	A	G	12: 66,568,926 (GRCm38)	Y636H	probably benign	Het
Micalcl	T	A	7: 112,381,610 (GRCm38)	S264T	probably damaging	Het
Mif	A	G	10: 75,859,541 (GRCm38)	V95A	possibly damaging	Het
Mmp17	G	A	5: 129,595,088 (GRCm38)		probably null	Het
Mmp23	T	C	4: 155,650,717 (GRCm38)	R390G	possibly damaging	Het
Ncoa6	A	C	2: 155,415,222 (GRCm38)	S800R	possibly damaging	Het
Nfix	G	A	8: 84,726,526 (GRCm38)	R300C	probably damaging	Het
Nr2e3	A	T	9: 59,949,205 (GRCm38)	S67R	probably damaging	Het
Odf2l	T	C	3: 145,149,036 (GRCm38)	S545P	possibly damaging	Het
Olfr1256	G	A	2: 89,835,172 (GRCm38)	R258*	probably null	Het
Olfr172	C	T	16: 58,760,853 (GRCm38)	E108K	probably damaging	Het
Olfr591	T	A	7: 103,173,451 (GRCm38)	Y62F	probably benign	Het
Olfr845	C	T	9: 19,338,652 (GRCm38)	S64F	probably benign	Het
Olfr872	A	C	9: 20,260,432 (GRCm38)	Q197H	possibly damaging	Het
Olfr916	T	G	9: 38,657,718 (GRCm38)	I225L	probably damaging	Het
Olfr958	A	T	9: 39,550,784 (GRCm38)	V29E	possibly damaging	Het
Otog	A	T	7: 46,259,264 (GRCm38)	H562L	possibly damaging	Het
Pcdh15	T	C	10: 74,594,191 (GRCm38)	V1250A	probably damaging	Het
Pde1c	A	G	6: 56,173,607 (GRCm38)	V309A	possibly damaging	Het
Pfkfb4	A	C	9: 109,007,305 (GRCm38)	T134P	probably damaging	Het
Phc3	G	T	3: 30,936,575 (GRCm38)	Q498K	possibly damaging	Het
Phlpp1	T	C	1: 106,392,319 (GRCm38)	V1348A	probably damaging	Het
Pik3ap1	T	C	19: 41,321,558 (GRCm38)	D441G	probably damaging	Het
Pkd1l2	T	C	8: 117,065,500 (GRCm38)		probably null	Het
Pla2g4a	T	C	1: 149,857,686 (GRCm38)		probably null	Het
Pola2	A	T	19: 5,948,406 (GRCm38)	I376N	probably damaging	Het
Pold2	T	A	11: 5,876,833 (GRCm38)	N34Y	probably damaging	Het
Ppp2r5c	T	C	12: 110,554,886 (GRCm38)	L281P	probably damaging	Het
Prss46	A	G	9: 110,849,635 (GRCm38)	I29V	probably benign	Het
Ranbp6	A	T	19: 29,811,446 (GRCm38)	V502E	probably benign	Het
Rdh14	T	C	12: 10,394,613 (GRCm38)	F155L	probably damaging	Het
Rnaseh2a	A	T	8: 84,965,858 (GRCm38)		probably null	Het
Rpp30	A	G	19: 36,094,385 (GRCm38)	T118A	possibly damaging	Het
Rragd	T	C	4: 32,996,005 (GRCm38)	F117L	probably damaging	Het
S100a2	T	A	3: 90,591,292 (GRCm38)		probably null	Het
Sept12	T	C	16: 4,996,476 (GRCm38)	K43R	probably damaging	Het
Sh3tc2	A	G	18: 62,008,488 (GRCm38)	E1080G	probably damaging	Het
Slc26a9	A	G	1: 131,750,677 (GRCm38)	K27R	probably damaging	Het
Spata17	T	A	1: 187,193,994 (GRCm38)	K46N	probably damaging	Het
St14	A	C	9: 31,108,215 (GRCm38)	D103E	probably benign	Het
St6galnac2	T	A	11: 116,684,347 (GRCm38)	Q222L	possibly damaging	Het
Tdrd9	T	C	12: 112,036,410 (GRCm38)	V831A	probably damaging	Het
Tert	A	G	13: 73,642,056 (GRCm38)	E843G	probably damaging	Het
Tex21	A	G	12: 76,204,270 (GRCm38)	V464A	probably benign	Het
Tmem232	T	A	17: 65,484,501 (GRCm38)	H124L	probably damaging	Het
Tmem5	A	G	10: 122,090,479 (GRCm38)	W243R	probably damaging	Het
Tnfrsf19	T	G	14: 61,005,106 (GRCm38)	S110R	probably damaging	Het
Tnnt3	A	T	7: 142,515,825 (GRCm38)	K272*	probably null	Het
Tnxb	T	C	17: 34,711,503 (GRCm38)	L2054P	probably damaging	Het
Trcg1	A	C	9: 57,242,465 (GRCm38)	D440A	probably benign	Het
Trpm3	A	G	19: 22,901,221 (GRCm38)	E504G	probably damaging	Het
Trpm5	C	T	7: 143,082,889 (GRCm38)	R437H	probably benign	Het
Ttn	T	C	2: 76,741,167 (GRCm38)	R18134G	probably damaging	Het
Uchl5	A	C	1: 143,798,422 (GRCm38)	M64L	possibly damaging	Het
Urb1	G	A	16: 90,753,863 (GRCm38)	R2034W	probably damaging	Het
Usp44	T	A	10: 93,847,186 (GRCm38)	C452*	probably null	Het
Uvssa	G	A	5: 33,413,934 (GRCm38)	A641T	probably damaging	Het
Vmn1r204	T	A	13: 22,557,078 (GRCm38)	I293N	probably benign	Het
Vmn2r84	A	T	10: 130,389,268 (GRCm38)	C458S	probably benign	Het
Vmn2r85	T	G	10: 130,425,919 (GRCm38)	H183P	probably damaging	Het
Vps13d	G	T	4: 145,105,861 (GRCm38)	T2825K	probably benign	Het
Zc3hc1	T	A	6: 30,376,025 (GRCm38)	I179F	probably benign	Het
Zfp112	A	G	7: 24,125,785 (GRCm38)	N393D	probably damaging	Het
Zfp558	A	G	9: 18,456,563 (GRCm38)	S310P	possibly damaging	Het
Zfp560	A	C	9: 20,348,775 (GRCm38)		probably null	Het
Zfp668	C	T	7: 127,867,080 (GRCm38)	E311K	probably benign	Het
Zfp763	T	A	17: 33,033,302 (GRCm38)	M1L	probably benign	Het
Zfp947	A	T	17: 22,145,832 (GRCm38)	M287K	probably benign	Het

Other mutations in Elovl1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01544:Elovl1	APN	4	118,430,910 (GRCm38)	splice site	probably null
IGL01613:Elovl1	APN	4	118,431,270 (GRCm38)	missense	probably benign	0.06
IGL02598:Elovl1	APN	4	118,431,419 (GRCm38)	splice site	probably null
IGL03082:Elovl1	APN	4	118,430,880 (GRCm38)	missense	probably benign	0.00
R1323:Elovl1	UTSW	4	118,431,654 (GRCm38)	missense	possibly damaging	0.79
R1323:Elovl1	UTSW	4	118,431,654 (GRCm38)	missense	possibly damaging	0.79
R1765:Elovl1	UTSW	4	118,430,510 (GRCm38)	start codon destroyed	probably null	0.13
R1894:Elovl1	UTSW	4	118,430,748 (GRCm38)	missense	probably damaging	0.99
R2139:Elovl1	UTSW	4	118,431,106 (GRCm38)	missense	probably damaging	0.99
R4667:Elovl1	UTSW	4	118,430,787 (GRCm38)	missense	probably damaging	1.00
R4957:Elovl1	UTSW	4	118,431,923 (GRCm38)	missense	probably damaging	1.00
R5262:Elovl1	UTSW	4	118,430,927 (GRCm38)	unclassified	probably benign
R5665:Elovl1	UTSW	4	118,431,635 (GRCm38)	missense	probably damaging	0.99
R5775:Elovl1	UTSW	4	118,430,897 (GRCm38)	missense	probably benign	0.27
R6676:Elovl1	UTSW	4	118,430,503 (GRCm38)	unclassified	probably benign
R7221:Elovl1	UTSW	4	118,431,614 (GRCm38)	missense	probably damaging	1.00
R8701:Elovl1	UTSW	4	118,430,510 (GRCm38)	start codon destroyed	probably benign	0.00
R8971:Elovl1	UTSW	4	118,431,512 (GRCm38)	missense	probably damaging	1.00
R9129:Elovl1	UTSW	4	118,431,959 (GRCm38)	missense	possibly damaging	0.91
R9506:Elovl1	UTSW	4	118,430,715 (GRCm38)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CAGCCCTACCTTTGGTGGAAGAAAC -3'
(R):5'- AGTAAGTGTCCAGCCCTTTCAGCC -3'

Sequencing Primer
(F):5'- CCTTTGGTGGAAGAAACATATGACTG -3'
(R):5'- ACACTTGTGGATGCTGCC -3'

Posted On

2014-04-13