Incidental Mutation 'R6640:Elovl5'
| ID |
525724 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Elovl5
|
| Ensembl Gene |
ENSMUSG00000032349 |
| Gene Name |
ELOVL fatty acid elongase 5 |
| Synonyms |
ELOVL family member 5, elongation of long chain fatty acids (yeast), 1110059L23Rik |
| MMRRC Submission |
044761-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6640 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
77824647-77891801 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
C to A
at 77887195 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Stop codon
at position 195
(Y195*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000034904
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034904]
[ENSMUST00000133757]
|
| AlphaFold |
Q8BHI7 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000034904
AA Change: Y195*
|
| SMART Domains |
Protein: ENSMUSP00000034904
Gene: ENSMUSG00000032349
AA Change: Y195*
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ELO
|
27 |
262 |
2.3e-68 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000133757
|
| SMART Domains |
Protein: ENSMUSP00000123121
Gene: ENSMUSG00000032349
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ELO
|
27 |
180 |
4.6e-46 |
PFAM |
|
| Meta Mutation Damage Score |
0.9756 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 97.9%
- 20x: 93.6%
|
| Validation Efficiency |
97% (31/32) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene belongs to the ELO family. It is highly expressed in the adrenal gland and testis, and encodes a multi-pass membrane protein that is localized in the endoplasmic reticulum. This protein is involved in the elongation of long-chain polyunsaturated fatty acids. Mutations in this gene have been associated with spinocerebellar ataxia-38 (SCA38). Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Sep 2014]
PHENOTYPE: Mice homozygous for a gene trapped allele have defects in fatty acid synthesis in the liver that result in hepatic steatosis. Also, majority of female mice have defects in female fertility. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A2ml1 |
A |
T |
6: 128,530,248 (GRCm39) |
N936K |
probably benign |
Het |
| Abca2 |
A |
T |
2: 25,337,015 (GRCm39) |
Y2318F |
possibly damaging |
Het |
| Aldh1b1 |
A |
G |
4: 45,803,868 (GRCm39) |
T469A |
possibly damaging |
Het |
| Aoc1l1 |
A |
G |
6: 48,954,605 (GRCm39) |
D581G |
probably benign |
Het |
| Ccdc136 |
A |
G |
6: 29,412,959 (GRCm39) |
D382G |
possibly damaging |
Het |
| Dapk1 |
A |
G |
13: 60,864,628 (GRCm39) |
K141E |
probably damaging |
Het |
| Dnah6 |
A |
T |
6: 73,001,276 (GRCm39) |
W3973R |
probably damaging |
Het |
| Dock10 |
G |
T |
1: 80,511,555 (GRCm39) |
S1518* |
probably null |
Het |
| Fbxl21 |
T |
A |
13: 56,684,822 (GRCm39) |
W309R |
probably damaging |
Het |
| Gm10801 |
C |
CGTG |
2: 98,494,152 (GRCm39) |
|
probably null |
Het |
| Gpx1 |
A |
G |
9: 108,217,295 (GRCm39) |
D133G |
probably damaging |
Het |
| Hoxd1 |
T |
A |
2: 74,593,606 (GRCm39) |
V54E |
probably damaging |
Het |
| Kcnh3 |
T |
C |
15: 99,139,649 (GRCm39) |
V876A |
probably benign |
Het |
| Klri2 |
G |
C |
6: 129,709,158 (GRCm39) |
F231L |
probably benign |
Het |
| Mogat1 |
T |
G |
1: 78,500,411 (GRCm39) |
S158R |
probably damaging |
Het |
| Myo1c |
C |
T |
11: 75,562,461 (GRCm39) |
P918S |
probably benign |
Het |
| Or2ag13 |
T |
A |
7: 106,313,247 (GRCm39) |
I214F |
probably damaging |
Het |
| Or8k16 |
T |
A |
2: 85,520,279 (GRCm39) |
C169S |
probably damaging |
Het |
| Otog |
G |
A |
7: 45,911,167 (GRCm39) |
A673T |
possibly damaging |
Het |
| Pigm |
T |
C |
1: 172,205,254 (GRCm39) |
V330A |
probably damaging |
Het |
| Rab33b |
A |
G |
3: 51,391,900 (GRCm39) |
T50A |
possibly damaging |
Het |
| Raver2 |
C |
T |
4: 100,988,500 (GRCm39) |
P371L |
probably damaging |
Het |
| Rpl15-ps6 |
G |
T |
15: 52,341,016 (GRCm39) |
|
noncoding transcript |
Het |
| Sh3rf2 |
T |
A |
18: 42,234,705 (GRCm39) |
Y163N |
probably damaging |
Het |
| Slc1a1 |
T |
C |
19: 28,871,970 (GRCm39) |
|
probably null |
Het |
| Slc6a18 |
T |
A |
13: 73,812,401 (GRCm39) |
Y563F |
possibly damaging |
Het |
| Sp3 |
A |
G |
2: 72,801,458 (GRCm39) |
L185P |
possibly damaging |
Het |
| Thbs2 |
T |
C |
17: 14,893,630 (GRCm39) |
D850G |
possibly damaging |
Het |
| Tmem161b |
C |
A |
13: 84,370,537 (GRCm39) |
|
probably benign |
Het |
| Tmtc2 |
T |
A |
10: 105,409,610 (GRCm39) |
M1L |
probably benign |
Het |
| Trpm2 |
C |
T |
10: 77,773,660 (GRCm39) |
R585Q |
probably benign |
Het |
| Trpm3 |
T |
A |
19: 22,955,946 (GRCm39) |
I1126K |
probably damaging |
Het |
| Ugt1a6b |
A |
C |
1: 88,035,516 (GRCm39) |
T285P |
probably benign |
Het |
| Vps13b |
A |
G |
15: 35,617,842 (GRCm39) |
T1181A |
possibly damaging |
Het |
|
| Other mutations in Elovl5 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00561:Elovl5
|
APN |
9 |
77,868,256 (GRCm39) |
missense |
probably benign |
0.12 |
|
IGL01017:Elovl5
|
APN |
9 |
77,888,853 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
IGL02331:Elovl5
|
APN |
9 |
77,887,181 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
IGL02851:Elovl5
|
APN |
9 |
77,888,784 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03011:Elovl5
|
APN |
9 |
77,890,066 (GRCm39) |
missense |
probably benign |
0.32 |
|
euge
|
UTSW |
9 |
77,887,105 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
laid-up
|
UTSW |
9 |
77,888,784 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0452:Elovl5
|
UTSW |
9 |
77,868,193 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0494:Elovl5
|
UTSW |
9 |
77,868,199 (GRCm39) |
missense |
probably benign |
0.05 |
|
R3706:Elovl5
|
UTSW |
9 |
77,887,119 (GRCm39) |
missense |
probably null |
1.00 |
|
R4353:Elovl5
|
UTSW |
9 |
77,868,199 (GRCm39) |
missense |
probably benign |
0.05 |
|
R6211:Elovl5
|
UTSW |
9 |
77,888,784 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7804:Elovl5
|
UTSW |
9 |
77,887,105 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R8179:Elovl5
|
UTSW |
9 |
77,884,181 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8940:Elovl5
|
UTSW |
9 |
77,890,007 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R9474:Elovl5
|
UTSW |
9 |
77,890,007 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R9667:Elovl5
|
UTSW |
9 |
77,889,947 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R9685:Elovl5
|
UTSW |
9 |
77,868,291 (GRCm39) |
missense |
probably damaging |
1.00 |
|
RF031:Elovl5
|
UTSW |
9 |
77,888,755 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
Z1176:Elovl5
|
UTSW |
9 |
77,884,037 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCTAGTTCCAAAGTGGTCTTGG -3'
(R):5'- AGCTTAAGACTTGAGGCACCC -3'
Sequencing Primer
(F):5'- AAAGTGGTCTTGGATTTTCCCACAC -3'
(R):5'- GTCCAGAGCAGATTCTCCATC -3'
|
| Posted On |
2018-06-22 |
Incidental Mutation