Mutagenetix > Incidental Mutation

Incidental Mutation 'R1323:Elovl1'

172450

Institutional Source

Beutler Lab

Gene Symbol

Elovl1

Ensembl Gene

ENSMUSG00000006390

Gene Name

ELOVL fatty acid elongase 1

Synonyms

Ssc1, elongation of very long chain fatty acids (FEN1/Elo2, SUR4/Elo3, yeast)-like 1

MMRRC Submission

039389-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1323 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

118285290-118290150 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 118288851 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 103 (L103P)

Ref Sequence

ENSEMBL: ENSMUSP00000099734 (fasta)

Gene Model

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

AlphaFold

Q9JLJ5

Predicted Effect

possibly damaging
Transcript: ENSMUST00000006557
AA Change: L180P

PolyPhen 2 Score 0.749 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000006557
Gene: ENSMUSG00000006390
AA Change: L180P

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

possibly damaging
Transcript: ENSMUST00000067896
AA Change: L180P

PolyPhen 2 Score 0.683 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000064816
Gene: ENSMUSG00000006390
AA Change: L180P

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000102673
AA Change: L103P

PolyPhen 2 Score 0.787 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000099734
Gene: ENSMUSG00000006390
AA Change: L103P

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

possibly damaging
Transcript: ENSMUST00000167636
AA Change: L180P

PolyPhen 2 Score 0.683 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000126685
Gene: ENSMUSG00000006390
AA Change: L180P

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151302

Predicted Effect

probably benign
Transcript: ENSMUST00000183942

Coding Region Coverage

1x: 99.0%
3x: 98.0%
10x: 95.1%
20x: 88.7%

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: 23 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	C	A	11: 9,240,937 (GRCm39)	F933L	possibly damaging	Het
Abcc8	T	G	7: 45,766,786 (GRCm39)	Q998P	probably benign	Het
Akr1e1	C	T	13: 4,657,547 (GRCm39)	G17E	probably damaging	Het
Ankrd44	A	G	1: 54,805,609 (GRCm39)		probably benign	Het
D630045J12Rik	T	C	6: 38,125,443 (GRCm39)	I1524V	probably damaging	Het
Emsy	T	C	7: 98,259,864 (GRCm39)		probably benign	Het
Fam171a2	T	G	11: 102,334,951 (GRCm39)	D62A	probably damaging	Het
Firrm	C	A	1: 163,783,030 (GRCm39)		probably benign	Het
Frzb	G	A	2: 80,243,720 (GRCm39)	P320S	probably benign	Het
Fsip2	G	T	2: 82,816,096 (GRCm39)	G3943V	probably damaging	Het
Ftdc1	G	A	16: 58,437,278 (GRCm39)	P10L	possibly damaging	Het
Grm8	A	G	6: 28,125,973 (GRCm39)	L51P	probably damaging	Het
H2af-ps2	T	G	13: 51,357,100 (GRCm39)		noncoding transcript	Het
Hnf4g	T	C	3: 3,699,281 (GRCm39)	S4P	possibly damaging	Het
Megf8	T	A	7: 25,059,527 (GRCm39)		probably null	Het
Mtnr1b	A	G	9: 15,774,432 (GRCm39)	F209S	probably damaging	Het
Nckipsd	G	A	9: 108,689,778 (GRCm39)	R313Q	probably damaging	Het
Nrbp1	T	A	5: 31,403,157 (GRCm39)	I210N	probably damaging	Het
Paqr5	C	T	9: 61,868,810 (GRCm39)		probably null	Het
S100a14	T	C	3: 90,435,043 (GRCm39)	V18A	probably damaging	Het
Sycp2	A	T	2: 177,989,414 (GRCm39)	S1441R	possibly damaging	Het
Vmn2r101	G	A	17: 19,832,313 (GRCm39)	D770N	probably damaging	Het
Zfp600	A	G	4: 146,133,261 (GRCm39)	Y643C	probably damaging	Het

Other mutations in Elovl1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01544:Elovl1	APN	4	118,288,107 (GRCm39)	splice site	probably null
IGL01613:Elovl1	APN	4	118,288,467 (GRCm39)	missense	probably benign	0.06
IGL02598:Elovl1	APN	4	118,288,616 (GRCm39)	splice site	probably null
IGL03082:Elovl1	APN	4	118,288,077 (GRCm39)	missense	probably benign	0.00
R1323:Elovl1	UTSW	4	118,288,851 (GRCm39)	missense	possibly damaging	0.79
R1521:Elovl1	UTSW	4	118,289,197 (GRCm39)	missense	probably benign	0.14
R1765:Elovl1	UTSW	4	118,287,707 (GRCm39)	start codon destroyed	probably null	0.13
R1894:Elovl1	UTSW	4	118,287,945 (GRCm39)	missense	probably damaging	0.99
R2139:Elovl1	UTSW	4	118,288,303 (GRCm39)	missense	probably damaging	0.99
R4667:Elovl1	UTSW	4	118,287,984 (GRCm39)	missense	probably damaging	1.00
R4957:Elovl1	UTSW	4	118,289,120 (GRCm39)	missense	probably damaging	1.00
R5262:Elovl1	UTSW	4	118,288,124 (GRCm39)	unclassified	probably benign
R5665:Elovl1	UTSW	4	118,288,832 (GRCm39)	missense	probably damaging	0.99
R5775:Elovl1	UTSW	4	118,288,094 (GRCm39)	missense	probably benign	0.27
R6676:Elovl1	UTSW	4	118,287,700 (GRCm39)	unclassified	probably benign
R7221:Elovl1	UTSW	4	118,288,811 (GRCm39)	missense	probably damaging	1.00
R8701:Elovl1	UTSW	4	118,287,707 (GRCm39)	start codon destroyed	probably benign	0.00
R8971:Elovl1	UTSW	4	118,288,709 (GRCm39)	missense	probably damaging	1.00
R9129:Elovl1	UTSW	4	118,289,156 (GRCm39)	missense	possibly damaging	0.91
R9506:Elovl1	UTSW	4	118,287,912 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CCAAGGTCATTGAGCTGATGGACAC -3'
(R):5'- CATTTTGCTGAACTGCACGGGG -3'

Sequencing Primer
(F):5'- CACAGTGAGTGTTACAGCTACTAC -3'
(R):5'- CCCCTTGGTGTAAGAGTGATAC -3'

Posted On

2014-04-24