Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01819:Elovl7'

154471

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: 0.179) question?

Stock #

IGL01819

Quality Score

Status

Chromosome

Chromosomal Location

108214404-108285683 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 108274320 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glycine at position 143 (V143G)

Ref Sequence

ENSEMBL: ENSMUSP00000022207 (fasta)

Gene Model

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

AlphaFold

Q9D2Y9

Predicted Effect

probably damaging
Transcript: ENSMUST00000022207
AA Change: V143G

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000022207
Gene: ENSMUSG00000021696
AA Change: V143G

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: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610010F05Rik	A	G	11: 23,584,561	S105P	probably benign	Het
Adora2b	A	G	11: 62,265,184	N153S	possibly damaging	Het
Afm	C	T	5: 90,524,906	T200I	probably benign	Het
Cyp2c67	T	C	19: 39,615,721	D397G	probably damaging	Het
Dnah9	A	G	11: 66,108,126	V1032A	probably benign	Het
Fhl4	T	C	10: 85,098,870	K16E	probably damaging	Het
Golga1	C	T	2: 39,034,149	C383Y	probably benign	Het
Gucy1a2	C	T	9: 3,865,409	R628*	probably null	Het
Hectd4	A	G	5: 121,328,418	D2432G	possibly damaging	Het
Iqcf5	T	A	9: 106,515,990	*149R	probably null	Het
Kcnab1	T	A	3: 65,319,454	Y185N	probably damaging	Het
Lars	G	T	18: 42,202,550	T1167K	probably benign	Het
Mib2	A	T	4: 155,655,258		probably null	Het
Mrps2	T	C	2: 28,468,336	V46A	probably benign	Het
Myo18b	T	C	5: 112,878,050	T45A	unknown	Het
Myo1e	C	T	9: 70,343,040		probably benign	Het
Olfr1129	A	G	2: 87,575,479	I132V	probably damaging	Het
Olfr1285	T	A	2: 111,408,733	V106E	probably damaging	Het
Osbp2	A	T	11: 3,717,127	I8N	probably damaging	Het
Pcdhb22	A	T	18: 37,519,921	N481Y	probably damaging	Het
Pde3a	T	C	6: 141,487,537	W765R	probably damaging	Het
Phf11c	T	C	14: 59,393,137	T40A	probably benign	Het
Pih1d2	T	A	9: 50,621,877	S268R	probably benign	Het
Pkd1l2	T	C	8: 116,998,174	N2333D	probably damaging	Het
Prex1	A	G	2: 166,621,245	I62T	probably damaging	Het
Ptcd2	T	C	13: 99,326,711	N245S	possibly damaging	Het
Ripor3	C	A	2: 167,980,843	V933F	probably damaging	Het
Sphk2	A	G	7: 45,711,056		probably null	Het
Tfcp2	T	G	15: 100,504,439	E492D	probably benign	Het
Ttn	C	T	2: 76,798,762	V14411I	possibly damaging	Het
Utp20	T	C	10: 88,792,687	Q915R	probably damaging	Het
Vmn2r45	C	A	7: 8,485,557	S158I	probably benign	Het

Other mutations in Elovl7

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01901:Elovl7	APN	13	108274393	critical splice donor site	probably null
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

2014-02-04