Mutagenetix > Incidental Mutation

Incidental Mutation 'R1346:Elovl7'

156515

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

039411-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.261) question?

Stock #

R1346 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

108350938-108422217 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 108410883 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 153 (I153V)

Ref Sequence

ENSEMBL: ENSMUSP00000022207 (fasta)

Gene Model

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

AlphaFold

Q9D2Y9

Predicted Effect

probably benign
Transcript: ENSMUST00000022207
AA Change: I153V

PolyPhen 2 Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000022207
Gene: ENSMUSG00000021696
AA Change: I153V

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

Predicted Effect

probably benign
Transcript: ENSMUST00000225550

Meta Mutation Damage Score

0.0932

Coding Region Coverage

1x: 98.9%
3x: 97.9%
10x: 95.2%
20x: 90.1%

Validation Efficiency

98% (43/44)

Allele List at MGI

Other mutations in this stock

Total: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3425401B19Rik	C	A	14: 32,382,771 (GRCm39)	A1065S	probably benign	Het
Ak5	G	T	3: 152,239,071 (GRCm39)	D301E	probably damaging	Het
Akap13	G	A	7: 75,259,340 (GRCm39)	G655S	possibly damaging	Het
Arap3	A	T	18: 38,108,971 (GRCm39)	C1228S	probably damaging	Het
Arfgef1	T	C	1: 10,229,958 (GRCm39)	T1248A	probably benign	Het
Atf7ip2	G	A	16: 10,052,195 (GRCm39)	V225I	probably damaging	Het
Bdp1	G	A	13: 100,215,263 (GRCm39)	Q374*	probably null	Het
Cacng6	G	T	7: 3,483,438 (GRCm39)	W255C	possibly damaging	Het
Camta2	T	C	11: 70,567,293 (GRCm39)	K628R	possibly damaging	Het
Catsperg1	A	T	7: 28,881,759 (GRCm39)		probably null	Het
Cers4	A	G	8: 4,565,632 (GRCm39)	E26G	probably damaging	Het
Chfr	A	G	5: 110,288,313 (GRCm39)	D76G	probably damaging	Het
Chrng	C	A	1: 87,135,985 (GRCm39)	Q245K	probably benign	Het
Cnn2	T	C	10: 79,829,414 (GRCm39)		probably benign	Het
Dyrk2	T	C	10: 118,695,624 (GRCm39)	K545E	possibly damaging	Het
Eif3d	A	G	15: 77,852,754 (GRCm39)	I9T	probably damaging	Het
Etl4	T	C	2: 20,810,955 (GRCm39)	S1013P	possibly damaging	Het
Furin	C	T	7: 80,041,932 (GRCm39)		probably benign	Het
Gart	G	T	16: 91,425,070 (GRCm39)		probably null	Het
Gm572	G	A	4: 148,739,354 (GRCm39)	V61M	possibly damaging	Het
Hspbap1	G	A	16: 35,622,035 (GRCm39)	A127T	probably damaging	Het
Kcnh2	T	C	5: 24,527,658 (GRCm39)	D898G	possibly damaging	Het
Kcnrg	A	G	14: 61,849,144 (GRCm39)	T202A	probably benign	Het
Lhx1	T	C	11: 84,412,905 (GRCm39)	E36G	possibly damaging	Het
Lrp1	T	C	10: 127,441,735 (GRCm39)	N167S	probably damaging	Het
Parp9	A	T	16: 35,777,267 (GRCm39)	M171L	probably benign	Het
Pla2g4e	G	A	2: 120,013,253 (GRCm39)	R356W	probably damaging	Het
Ppp4c	C	T	7: 126,391,222 (GRCm39)		probably benign	Het
Rab3c	G	A	13: 110,397,120 (GRCm39)	R49C	probably damaging	Het
Rbm25	T	C	12: 83,691,167 (GRCm39)		probably benign	Het
Sema4g	T	A	19: 44,986,091 (GRCm39)	S311T	possibly damaging	Het
Skida1	T	C	2: 18,053,090 (GRCm39)	I21V	possibly damaging	Het
Slc25a32	T	A	15: 38,963,411 (GRCm39)	I137F	probably benign	Het
Stard9	T	C	2: 120,543,929 (GRCm39)	V4409A	probably damaging	Het
Stx2	G	A	5: 129,065,852 (GRCm39)		probably benign	Het
Timeless	C	T	10: 128,078,234 (GRCm39)	T248M	possibly damaging	Het
Tlr2	T	A	3: 83,743,900 (GRCm39)	N728Y	probably damaging	Het
Zfp592	A	T	7: 80,687,812 (GRCm39)	N913Y	possibly 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
R1426:Elovl7	UTSW	13	108,419,028 (GRCm39)	missense	possibly damaging	0.66
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'- CCTTATCCAAACTGGGAGGATGTGCT -3'
(R):5'- CAGGAGTTTAACCAAAGTGGCTCTGAT -3'

Sequencing Primer
(F):5'- CAGCACTTCTTAAATGCTGGG -3'
(R):5'- GTGGCTCTGATTTGAAAAAATTCATC -3'

Posted On

2014-02-11