Mutagenetix > Incidental Mutation

Incidental Mutation 'R1426:Elovl7'

162259

Institutional Source

Beutler Lab

Gene Symbol

Elovl7

Ensembl Gene

ENSMUSG00000021696

Gene Name

ELOVL fatty acid elongase 7

Synonyms

9130013K24Rik, ELOVL family member 7, elongation of long chain fatty acids (yeast)

MMRRC Submission

039482-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.252) question?

Stock #

R1426 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

108350938-108422217 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 108419028 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 220 (I220N)

Ref Sequence

ENSEMBL: ENSMUSP00000022207 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022207] [ENSMUST00000225550]

AlphaFold

Q9D2Y9

Predicted Effect

possibly damaging
Transcript: ENSMUST00000022207
AA Change: I220N

PolyPhen 2 Score 0.658 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000022207
Gene: ENSMUSG00000021696
AA Change: I220N

Domain	Start	End	E-Value	Type
Pfam:ELO	29	269	2.1e-65	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000225550

Meta Mutation Damage Score

0.1799

Coding Region Coverage

1x: 98.8%
3x: 97.7%
10x: 94.3%
20x: 86.1%

Validation Efficiency

100% (40/40)

Allele List at MGI

Other mutations in this stock

Total: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc10	A	T	17: 46,635,361 (GRCm39)	V214E	probably damaging	Het
Adh1	A	G	3: 137,992,556 (GRCm39)	D224G	probably damaging	Het
Arhgap28	C	A	17: 68,164,459 (GRCm39)	Q554H	probably damaging	Het
Atp8a2	T	C	14: 60,097,719 (GRCm39)	K770E	probably benign	Het
Brat1	G	A	5: 140,703,768 (GRCm39)	V674I	probably benign	Het
Brd2	ATCTTCTTC	ATCTTC	17: 34,332,981 (GRCm39)		probably benign	Het
Ccdc162	T	C	10: 41,429,178 (GRCm39)	D438G	possibly damaging	Het
Cyp4x1	T	A	4: 114,969,988 (GRCm39)		probably benign	Het
Dip2a	T	C	10: 76,115,654 (GRCm39)		probably benign	Het
Eif2s1	A	G	12: 78,927,942 (GRCm39)	D206G	probably benign	Het
Gsto1	A	G	19: 47,846,381 (GRCm39)	E76G	probably damaging	Het
Hspa14	A	T	2: 3,509,858 (GRCm39)	W12R	probably damaging	Het
L3mbtl2	T	A	15: 81,560,518 (GRCm39)	C260S	possibly damaging	Het
Lama3	G	T	18: 12,614,155 (GRCm39)		probably null	Het
Lrrc34	T	A	3: 30,697,728 (GRCm39)		probably benign	Het
Lrrc45	A	T	11: 120,610,839 (GRCm39)	Q525L	probably benign	Het
Lss	T	C	10: 76,372,137 (GRCm39)	I164T	probably damaging	Het
Myh11	T	A	16: 14,023,795 (GRCm39)	K1527*	probably null	Het
Naip2	T	C	13: 100,298,362 (GRCm39)	E558G	probably benign	Het
Naip2	C	T	13: 100,298,368 (GRCm39)	G556D	probably benign	Het
Ncoa1	T	A	12: 4,320,737 (GRCm39)		probably benign	Het
Or5an1c	G	T	19: 12,218,546 (GRCm39)	Q160K	possibly damaging	Het
Or6c38	A	T	10: 128,929,559 (GRCm39)	C95S	probably damaging	Het
Pafah1b3	T	C	7: 24,996,560 (GRCm39)	E41G	possibly damaging	Het
Pnma8a	C	T	7: 16,694,909 (GRCm39)	P255S	possibly damaging	Het
Prkar2b	A	T	12: 32,012,987 (GRCm39)		probably benign	Het
Rbck1	A	T	2: 152,169,161 (GRCm39)		probably benign	Het
Rcor2	A	G	19: 7,248,395 (GRCm39)	S137G	possibly damaging	Het
Slc25a48	T	A	13: 56,596,804 (GRCm39)		probably benign	Het
Slc7a4	A	G	16: 17,391,808 (GRCm39)		probably null	Het
Tert	T	C	13: 73,790,472 (GRCm39)		probably benign	Het
Traf7	A	T	17: 24,730,655 (GRCm39)	I344N	probably damaging	Het
Vmn1r194	T	A	13: 22,429,236 (GRCm39)	F284L	probably damaging	Het
Xpc	A	G	6: 91,470,220 (GRCm39)	M699T	probably damaging	Het
Zbtb5	T	C	4: 44,993,968 (GRCm39)	H472R	possibly damaging	Het
Zfp786	A	G	6: 47,802,013 (GRCm39)	V88A	probably benign	Het
Zkscan7	T	C	9: 122,724,228 (GRCm39)	I399T	probably benign	Het
Zyg11b	G	A	4: 108,108,009 (GRCm39)	R466C	probably damaging	Het

Other mutations in Elovl7

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01819:Elovl7	APN	13	108,410,854 (GRCm39)	missense	probably damaging	0.99
IGL01901:Elovl7	APN	13	108,410,927 (GRCm39)	critical splice donor site	probably null
R1346:Elovl7	UTSW	13	108,410,883 (GRCm39)	missense	probably benign	0.02
R1677:Elovl7	UTSW	13	108,419,160 (GRCm39)	missense	probably damaging	1.00
R4163:Elovl7	UTSW	13	108,403,904 (GRCm39)	missense	possibly damaging	0.61
R4207:Elovl7	UTSW	13	108,419,040 (GRCm39)	missense	possibly damaging	0.76
R5000:Elovl7	UTSW	13	108,410,915 (GRCm39)	missense	probably benign	0.38
R5467:Elovl7	UTSW	13	108,416,156 (GRCm39)	missense	probably benign	0.12
R7186:Elovl7	UTSW	13	108,408,382 (GRCm39)	missense	probably damaging	1.00
R8736:Elovl7	UTSW	13	108,393,320 (GRCm39)	missense	probably benign	0.00
R8956:Elovl7	UTSW	13	108,393,320 (GRCm39)	missense	probably benign	0.00
R9401:Elovl7	UTSW	13	108,419,188 (GRCm39)	missense	probably benign	0.00
R9695:Elovl7	UTSW	13	108,416,242 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGCACTGAATATTGGTCCCAAACCC -3'
(R):5'- TCCAGGCTCTTCCACTGAGAAGAC -3'

Sequencing Primer
(F):5'- TAAATTTGACACCGTACCTAACCTG -3'
(R):5'- AGCTTTGGACTCTCAGAGATCAG -3'

Posted On

2014-03-14