Incidental Mutation 'R6933:Elovl4'
| ID |
540163 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Elovl4
|
| Ensembl Gene |
ENSMUSG00000032262 |
| Gene Name |
ELOVL fatty acid elongase 4 |
| Synonyms |
elongation of very long chain fatty acids (FEN1/Elo2, SUR4/Elo3, yeast)-like 4 |
| MMRRC Submission |
045048-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6933 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
83660745-83688330 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 83667153 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 68
(V68A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000139163
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034796]
[ENSMUST00000183614]
|
| AlphaFold |
Q9EQC4 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000034796
AA Change: V159A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000034796
Gene: ENSMUSG00000032262
AA Change: V159A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ELO
|
41 |
278 |
1e-69 |
PFAM |
|
low complexity region
|
300 |
311 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000183614
AA Change: V68A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000139163
Gene: ENSMUSG00000032262
AA Change: V68A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ELO
|
9 |
181 |
1.6e-50 |
PFAM |
|
| Meta Mutation Damage Score |
0.6544 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.2%
- 20x: 97.7%
|
| Validation Efficiency |
93% (41/44) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a membrane-bound protein which is a member of the ELO family, proteins which participate in the biosynthesis of fatty acids. Consistent with the expression of the encoded protein in photoreceptor cells of the retina, mutations and small deletions in this gene are associated with Stargardt-like macular dystrophy (STGD3) and autosomal dominant Stargardt-like macular dystrophy (ADMD), also referred to as autosomal dominant atrophic macular degeneration. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a null allele die before or around birth. Mice heterozygous for a null allele breed poorly and display mild retinal abnormalities. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ank3 |
G |
T |
10: 69,740,042 (GRCm39) |
K814N |
probably damaging |
Het |
| Anks1b |
A |
G |
10: 89,905,352 (GRCm39) |
H231R |
probably damaging |
Het |
| Anks6 |
A |
G |
4: 47,049,164 (GRCm39) |
V247A |
probably benign |
Het |
| Antxrl |
A |
G |
14: 33,797,728 (GRCm39) |
N568D |
possibly damaging |
Het |
| Ccnl1 |
T |
C |
3: 65,855,373 (GRCm39) |
T366A |
probably benign |
Het |
| Ccr2 |
T |
G |
9: 123,906,161 (GRCm39) |
L147R |
probably damaging |
Het |
| Cdc40 |
A |
G |
10: 40,720,992 (GRCm39) |
V318A |
probably damaging |
Het |
| Cfap61 |
T |
A |
2: 145,792,970 (GRCm39) |
|
probably null |
Het |
| Cfap97d2 |
CA |
CAA |
8: 13,784,865 (GRCm39) |
|
probably null |
Het |
| Clk3 |
A |
T |
9: 57,669,132 (GRCm39) |
Y31N |
probably damaging |
Het |
| Cmya5 |
T |
C |
13: 93,231,644 (GRCm39) |
Y1148C |
probably benign |
Het |
| Cntnap5b |
T |
C |
1: 100,311,175 (GRCm39) |
V927A |
probably benign |
Het |
| Dync1i1 |
A |
C |
6: 5,913,333 (GRCm39) |
T217P |
probably damaging |
Het |
| Ep400 |
C |
A |
5: 110,813,728 (GRCm39) |
K2890N |
probably damaging |
Het |
| Fam114a2 |
T |
C |
11: 57,374,897 (GRCm39) |
I481V |
probably benign |
Het |
| Fam83e |
A |
G |
7: 45,371,818 (GRCm39) |
T72A |
probably benign |
Het |
| Fnip2 |
A |
T |
3: 79,425,418 (GRCm39) |
M59K |
probably benign |
Het |
| Lrpprc |
T |
C |
17: 85,030,131 (GRCm39) |
K1089R |
probably benign |
Het |
| Mndal |
T |
A |
1: 173,703,249 (GRCm39) |
E52V |
probably damaging |
Het |
| Myom1 |
C |
A |
17: 71,359,666 (GRCm39) |
T446K |
probably damaging |
Het |
| Nbea |
A |
T |
3: 55,631,031 (GRCm39) |
F2199I |
possibly damaging |
Het |
| Nr1h2 |
A |
T |
7: 44,199,437 (GRCm39) |
L438Q |
probably damaging |
Het |
| Or52n2c |
A |
G |
7: 104,574,330 (GRCm39) |
C214R |
probably benign |
Het |
| Pet117 |
T |
A |
2: 144,211,019 (GRCm39) |
V13E |
possibly damaging |
Het |
| Pnpla8 |
A |
G |
12: 44,330,210 (GRCm39) |
E254G |
probably benign |
Het |
| Polr2a |
T |
C |
11: 69,627,003 (GRCm39) |
E1485G |
probably damaging |
Het |
| Polr2a |
C |
T |
11: 69,630,293 (GRCm39) |
R1258Q |
probably benign |
Het |
| Ptpn4 |
T |
C |
1: 119,700,878 (GRCm39) |
|
probably benign |
Het |
| Rapgef2 |
A |
T |
3: 78,993,266 (GRCm39) |
Y889N |
probably damaging |
Het |
| Sbf1 |
G |
A |
15: 89,184,572 (GRCm39) |
R1115C |
probably damaging |
Het |
| Sfpq |
GCCGCCGCAGCAGCCTCCGCCGCAGCAGCC |
GCCGCCGCAGCAGCC |
4: 126,915,419 (GRCm39) |
|
probably benign |
Het |
| Shank2 |
A |
T |
7: 143,645,515 (GRCm39) |
T366S |
probably benign |
Het |
| Slc22a23 |
T |
C |
13: 34,489,163 (GRCm39) |
I241V |
probably benign |
Het |
| Sox11 |
G |
T |
12: 27,391,493 (GRCm39) |
S305R |
probably damaging |
Het |
| Sox21 |
T |
C |
14: 118,472,725 (GRCm39) |
H108R |
possibly damaging |
Het |
| Taok1 |
A |
T |
11: 77,446,479 (GRCm39) |
S417T |
probably benign |
Het |
| Tg |
C |
T |
15: 66,636,158 (GRCm39) |
R582C |
possibly damaging |
Het |
| Traf3 |
T |
C |
12: 111,221,658 (GRCm39) |
V273A |
possibly damaging |
Het |
| Tspyl3 |
T |
C |
2: 153,067,203 (GRCm39) |
T12A |
probably benign |
Het |
| Vmn2r86 |
A |
T |
10: 130,282,126 (GRCm39) |
I830N |
probably damaging |
Het |
| Vps26b |
A |
T |
9: 26,926,613 (GRCm39) |
F129I |
possibly damaging |
Het |
| Washc3 |
A |
G |
10: 88,037,714 (GRCm39) |
N24S |
probably damaging |
Het |
| Xirp2 |
C |
A |
2: 67,345,201 (GRCm39) |
Q2481K |
probably benign |
Het |
| Zfhx4 |
T |
C |
3: 5,478,047 (GRCm39) |
V3554A |
probably damaging |
Het |
|
| Other mutations in Elovl4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
hershey
|
UTSW |
9 |
83,688,091 (GRCm39) |
start codon destroyed |
probably null |
0.31 |
|
R0278:Elovl4
|
UTSW |
9 |
83,665,248 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0563:Elovl4
|
UTSW |
9 |
83,667,087 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0739:Elovl4
|
UTSW |
9 |
83,667,162 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0771:Elovl4
|
UTSW |
9 |
83,667,168 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R1970:Elovl4
|
UTSW |
9 |
83,662,772 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2316:Elovl4
|
UTSW |
9 |
83,662,826 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3777:Elovl4
|
UTSW |
9 |
83,667,201 (GRCm39) |
frame shift |
probably null |
|
|
R3779:Elovl4
|
UTSW |
9 |
83,667,201 (GRCm39) |
frame shift |
probably null |
|
|
R4823:Elovl4
|
UTSW |
9 |
83,662,738 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4827:Elovl4
|
UTSW |
9 |
83,688,091 (GRCm39) |
start codon destroyed |
probably null |
0.31 |
|
R5264:Elovl4
|
UTSW |
9 |
83,662,817 (GRCm39) |
missense |
probably benign |
0.19 |
|
R5275:Elovl4
|
UTSW |
9 |
83,662,714 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R5295:Elovl4
|
UTSW |
9 |
83,662,714 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R5361:Elovl4
|
UTSW |
9 |
83,672,154 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R5364:Elovl4
|
UTSW |
9 |
83,672,076 (GRCm39) |
missense |
probably benign |
0.21 |
|
R5897:Elovl4
|
UTSW |
9 |
83,672,157 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R6433:Elovl4
|
UTSW |
9 |
83,667,231 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R6668:Elovl4
|
UTSW |
9 |
83,688,039 (GRCm39) |
missense |
probably benign |
0.02 |
|
R6844:Elovl4
|
UTSW |
9 |
83,672,164 (GRCm39) |
missense |
probably benign |
0.09 |
|
R6897:Elovl4
|
UTSW |
9 |
83,665,278 (GRCm39) |
missense |
probably benign |
0.05 |
|
R7534:Elovl4
|
UTSW |
9 |
83,672,172 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7544:Elovl4
|
UTSW |
9 |
83,665,271 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7843:Elovl4
|
UTSW |
9 |
83,670,324 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8303:Elovl4
|
UTSW |
9 |
83,670,320 (GRCm39) |
critical splice donor site |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CTCAAAGAGGTATTGCTTTCTGGTG -3'
(R):5'- AGTAGACACTCACACTGCGG -3'
Sequencing Primer
(F):5'- GATTATGTCCACCATGGGGAC -3'
(R):5'- CTCACACTGCGGCATGGATTTG -3'
|
| Posted On |
2018-11-06 |
Incidental Mutation