Mutagenetix > Incidental Mutation

Incidental Mutation 'R8736:Elovl7'

663043

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

068617-MU

Accession Numbers

Essential gene?

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

Stock #

R8736 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

108350938-108422217 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 108393320 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 18 (I18F)

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: I18F

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000022207
Gene: ENSMUSG00000021696
AA Change: I18F

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

Predicted Effect

probably benign
Transcript: ENSMUST00000225550
AA Change: I18F

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

Meta Mutation Damage Score

0.0710

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.9%
20x: 99.8%

Validation Efficiency

100% (36/36)

Allele List at MGI

Other mutations in this stock

Total: 35 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Bltp2	T	A	11: 78,178,875 (GRCm39)	S2047T	probably benign	Het
Ccdc125	T	C	13: 100,815,833 (GRCm39)	S100P	possibly damaging	Het
Ccnl1	T	C	3: 65,865,447 (GRCm39)	T35A	unknown	Het
Cul2	T	A	18: 3,434,019 (GRCm39)	V672E	probably damaging	Het
Cyb5a	C	A	18: 84,869,560 (GRCm39)		probably benign	Het
Ddhd1	T	A	14: 45,836,642 (GRCm39)	Y831F	probably benign	Het
Ddr1	A	G	17: 35,995,104 (GRCm39)	I698T	probably damaging	Het
Fcgbp	G	T	7: 27,805,621 (GRCm39)	V1967L	probably benign	Het
Gm40460	ACCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG	ACCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG	7: 141,794,450 (GRCm39)		probably benign	Het
Gtf2h3	A	G	5: 124,728,972 (GRCm39)	N177S	probably damaging	Het
Krt6b	A	G	15: 101,587,047 (GRCm39)	Y242H	probably damaging	Het
Mab21l2	C	A	3: 86,454,607 (GRCm39)	R131L	probably damaging	Het
Maml1	T	C	11: 50,148,726 (GRCm39)	T1005A	possibly damaging	Het
Mapk4	T	C	18: 74,103,396 (GRCm39)	T38A	probably benign	Het
Mapkapk5	G	A	5: 121,665,241 (GRCm39)	A338V	possibly damaging	Het
Morc2a	C	A	11: 3,631,737 (GRCm39)	T556K	probably damaging	Het
Muc16	G	A	9: 18,462,139 (GRCm39)	Q7459*	probably null	Het
Muc6	T	C	7: 141,228,439 (GRCm39)	T1256A	possibly damaging	Het
Or1e21	T	A	11: 73,344,384 (GRCm39)	Y218F	probably damaging	Het
Or4b12	A	G	2: 90,095,922 (GRCm39)	V284A	possibly damaging	Het
Or5a1	A	G	19: 12,097,309 (GRCm39)	C256R	probably damaging	Het
Or7g20	G	T	9: 18,946,774 (GRCm39)	M118I	probably damaging	Het
Or9i14	T	C	19: 13,792,358 (GRCm39)	I199V	probably benign	Het
Or9s18	T	G	13: 65,300,538 (GRCm39)	C167G	probably damaging	Het
Pik3c2a	A	G	7: 115,975,464 (GRCm39)	V701A	possibly damaging	Het
Plxnb2	A	T	15: 89,046,261 (GRCm39)	I918N	probably damaging	Het
Pms1	T	C	1: 53,307,053 (GRCm39)	S118G	possibly damaging	Het
Ppp1r18	A	G	17: 36,184,711 (GRCm39)	T549A	probably benign	Het
Rap1gds1	T	C	3: 138,647,512 (GRCm39)	I559V	probably benign	Het
Rftn1	G	T	17: 50,354,408 (GRCm39)	A318D	probably damaging	Het
Tenm4	C	T	7: 96,555,148 (GRCm39)	P2618S	probably benign	Het
Tlx1	A	G	19: 45,141,975 (GRCm39)	T200A	possibly damaging	Het
Usp1	A	G	4: 98,821,105 (GRCm39)	I488V	probably damaging	Het
Vmn2r6	T	A	3: 64,467,221 (GRCm39)	M93L	probably damaging	Het
Zfp870	A	T	17: 33,104,966 (GRCm39)	V31E	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
R1346:Elovl7	UTSW	13	108,410,883 (GRCm39)	missense	probably benign	0.02
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
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'- CCCTTCAGCAAGAGTGTGTTG -3'
(R):5'- AGGGTGAGATGTGACATCGC -3'

Sequencing Primer
(F):5'- AAGAGTGTGTTGCCCTGCC -3'
(R):5'- CCCTCCTGTGGGTATCAGAGTG -3'

Posted On

2021-03-08