Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01901:Elovl7'

179544

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Elovl7

Ensembl Gene

ENSMUSG00000021696

Gene Name

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

Synonyms

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.208) question?

Stock #

IGL01901

Quality Score

Status

Chromosome

Chromosomal Location

108214404-108285683 bp(+) (GRCm38)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

T to A at 108274393 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000022207 (fasta)

Gene Model

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

AlphaFold

Q9D2Y9

Predicted Effect

probably null
Transcript: ENSMUST00000022207

SMART Domains

Protein: ENSMUSP00000022207
Gene: ENSMUSG00000021696

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

Predicted Effect

probably benign
Transcript: ENSMUST00000225550

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931408C20Rik	A	G	1: 26,682,584	F1172L	probably benign	Het
Adam2	A	G	14: 66,035,229		probably benign	Het
Aldh1a7	T	G	19: 20,717,739	Y154S	probably damaging	Het
BC117090	C	A	16: 36,334,263	A11S	probably damaging	Het
Casc3	A	G	11: 98,823,121	D393G	probably damaging	Het
Cd180	A	G	13: 102,706,428	I661V	probably benign	Het
Cdh1	T	C	8: 106,657,760	S287P	probably damaging	Het
Clnk	T	C	5: 38,794,978	N6S	probably damaging	Het
Cyp17a1	C	T	19: 46,671,092	V100M	possibly damaging	Het
Ddhd2	A	G	8: 25,748,594	V53A	probably damaging	Het
Gm10717	C	T	9: 3,025,616	S67L	probably benign	Het
Gm10718	A	T	9: 3,025,118	Y194F	probably benign	Het
Gm14180	A	G	11: 99,734,227	S22P	unknown	Het
Gm21738	G	A	14: 19,416,979	S144L	probably benign	Het
Golga5	G	A	12: 102,479,802		probably null	Het
Gpr162	A	T	6: 124,861,407	F93L	possibly damaging	Het
Kcnh8	G	A	17: 52,894,120		probably benign	Het
Lamp3	A	T	16: 19,673,419	F358L	probably damaging	Het
Mdn1	T	G	4: 32,669,591	D409E	probably damaging	Het
Ms4a10	T	C	19: 10,963,010	D211G	probably benign	Het
Ms4a3	T	C	19: 11,639,266	E4G	possibly damaging	Het
Myo15	A	G	11: 60,527,434		probably benign	Het
Olfr1257	A	G	2: 89,881,482	I219V	probably damaging	Het
Olfr1448	T	C	19: 12,919,583	H242R	probably damaging	Het
Olfr612	A	T	7: 103,538,970	L88Q	probably damaging	Het
Olfr638	A	G	7: 104,004,067	H264R	probably damaging	Het
Olfr698	A	G	7: 106,752,545	V281A	possibly damaging	Het
Olfr815	A	G	10: 129,901,853	F286L	probably benign	Het
Penk	T	C	4: 4,134,465	I61V	probably benign	Het
Pkhd1	T	A	1: 20,220,083	K2860N	probably benign	Het
Prtg	C	T	9: 72,855,066	P492S	probably damaging	Het
Tdrd7	T	C	4: 45,989,225		probably benign	Het
Terf2ip	A	G	8: 112,012,068	N196S	probably benign	Het
Tgtp1	T	C	11: 48,987,555	N108D	possibly damaging	Het
Thumpd3	A	G	6: 113,059,971	H277R	probably benign	Het
Tshz2	T	A	2: 169,885,536	L215Q	possibly damaging	Het
Ube3c	T	A	5: 29,668,007	V1015E	probably damaging	Het
Utrn	T	A	10: 12,640,928	K2307N	probably damaging	Het
Vmn1r75	A	G	7: 11,880,812	Y157C	probably damaging	Het
Vmn2r-ps159	C	T	4: 156,338,254		noncoding transcript	Het

Other mutations in Elovl7

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01819:Elovl7	APN	13	108274320	missense	probably damaging	0.99
R1346:Elovl7	UTSW	13	108274349	missense	probably benign	0.02
R1426:Elovl7	UTSW	13	108282494	missense	possibly damaging	0.66
R1677:Elovl7	UTSW	13	108282626	missense	probably damaging	1.00
R4163:Elovl7	UTSW	13	108267370	missense	possibly damaging	0.61
R4207:Elovl7	UTSW	13	108282506	missense	possibly damaging	0.76
R5000:Elovl7	UTSW	13	108274381	missense	probably benign	0.38
R5467:Elovl7	UTSW	13	108279622	missense	probably benign	0.12
R7186:Elovl7	UTSW	13	108271848	missense	probably damaging	1.00
R8736:Elovl7	UTSW	13	108256786	missense	probably benign	0.00
R8956:Elovl7	UTSW	13	108256786	missense	probably benign	0.00
R9401:Elovl7	UTSW	13	108282654	missense	probably benign	0.00
R9695:Elovl7	UTSW	13	108279708	missense	probably damaging	1.00

Posted On

2014-05-07