Incidental Mutation 'R3706:Elovl5'
| ID |
271777 |
| 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 |
040699-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R3706 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
77824647-77891801 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 77887119 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Glutamic Acid
at position 170
(A170E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000123121
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034904]
[ENSMUST00000133757]
|
| AlphaFold |
Q8BHI7 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000034904
AA Change: A170E
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000034904
Gene: ENSMUSG00000032349
AA Change: A170E
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ELO
|
27 |
262 |
2.3e-68 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000133757
AA Change: A170E
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000123121
Gene: ENSMUSG00000032349
AA Change: A170E
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ELO
|
27 |
180 |
4.6e-46 |
PFAM |
|
| Meta Mutation Damage Score |
0.9755 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.8%
|
| Validation Efficiency |
100% (41/41) |
| 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: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ahnak2 |
G |
A |
12: 112,740,085 (GRCm39) |
P523L |
possibly damaging |
Het |
| Ampd1 |
A |
G |
3: 102,995,627 (GRCm39) |
|
probably benign |
Het |
| Anxa10 |
T |
A |
8: 62,517,321 (GRCm39) |
K167M |
probably damaging |
Het |
| Atp8b2 |
A |
T |
3: 89,852,459 (GRCm39) |
F866I |
probably damaging |
Het |
| Atxn2 |
T |
C |
5: 121,923,931 (GRCm39) |
|
probably null |
Het |
| Card11 |
G |
A |
5: 140,872,890 (GRCm39) |
R608C |
probably damaging |
Het |
| Cd4 |
T |
C |
6: 124,856,351 (GRCm39) |
K47E |
probably benign |
Het |
| Cenpl |
G |
A |
1: 160,905,985 (GRCm39) |
V120M |
probably damaging |
Het |
| Cfap69 |
G |
T |
5: 5,663,843 (GRCm39) |
Y461* |
probably null |
Het |
| Cplane1 |
T |
C |
15: 8,289,300 (GRCm39) |
S2917P |
unknown |
Het |
| Crct1 |
C |
A |
3: 92,922,014 (GRCm39) |
|
probably benign |
Het |
| Ddx24 |
A |
T |
12: 103,383,675 (GRCm39) |
V592E |
probably damaging |
Het |
| Dmc1 |
G |
C |
15: 79,446,782 (GRCm39) |
P264A |
probably damaging |
Het |
| Donson |
A |
G |
16: 91,483,049 (GRCm39) |
|
probably benign |
Het |
| Emilin1 |
A |
G |
5: 31,075,166 (GRCm39) |
E469G |
possibly damaging |
Het |
| Fam178b |
A |
G |
1: 36,647,529 (GRCm39) |
Y235H |
probably damaging |
Het |
| Fgfr2 |
T |
C |
7: 129,800,161 (GRCm39) |
T358A |
probably benign |
Het |
| Fpgs |
A |
T |
2: 32,578,008 (GRCm39) |
I138N |
probably damaging |
Het |
| Glb1l2 |
A |
G |
9: 26,682,316 (GRCm39) |
|
probably benign |
Het |
| Hspa4l |
A |
T |
3: 40,736,125 (GRCm39) |
N582I |
possibly damaging |
Het |
| Immt |
T |
C |
6: 71,839,346 (GRCm39) |
M226T |
probably benign |
Het |
| Kif21b |
A |
G |
1: 136,087,148 (GRCm39) |
N875S |
probably benign |
Het |
| Lama2 |
T |
C |
10: 27,014,992 (GRCm39) |
D1572G |
probably damaging |
Het |
| Lelp1 |
A |
C |
3: 92,042,714 (GRCm39) |
C112G |
unknown |
Het |
| Mctp2 |
A |
G |
7: 71,863,859 (GRCm39) |
|
probably benign |
Het |
| Mettl2 |
T |
A |
11: 105,030,552 (GRCm39) |
I376N |
probably benign |
Het |
| Mycbp2 |
A |
T |
14: 103,393,850 (GRCm39) |
S2904T |
probably benign |
Het |
| Nwd1 |
A |
G |
8: 73,393,744 (GRCm39) |
T377A |
possibly damaging |
Het |
| Or10q1 |
T |
A |
19: 13,726,476 (GRCm39) |
L2Q |
probably benign |
Het |
| Or5b12b |
C |
T |
19: 12,861,260 (GRCm39) |
T5I |
probably damaging |
Het |
| Pappa2 |
A |
T |
1: 158,662,488 (GRCm39) |
Y1162* |
probably null |
Het |
| Phip |
T |
C |
9: 82,782,796 (GRCm39) |
E883G |
probably benign |
Het |
| Phox2b |
T |
C |
5: 67,253,872 (GRCm39) |
|
probably benign |
Het |
| Pigc |
T |
A |
1: 161,798,663 (GRCm39) |
M215K |
probably benign |
Het |
| Rab11b |
G |
C |
17: 33,966,740 (GRCm39) |
H162D |
probably benign |
Het |
| Reln |
T |
C |
5: 22,200,587 (GRCm39) |
|
probably benign |
Het |
| Sgo2b |
T |
C |
8: 64,381,179 (GRCm39) |
E551G |
probably damaging |
Het |
| Sucla2 |
A |
G |
14: 73,828,492 (GRCm39) |
K336R |
probably damaging |
Het |
| Zfx |
A |
G |
X: 93,142,413 (GRCm39) |
V36A |
possibly damaging |
Het |
| Zim1 |
T |
C |
7: 6,680,290 (GRCm39) |
I458V |
probably 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 |
|
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 |
|
R6640:Elovl5
|
UTSW |
9 |
77,887,195 (GRCm39) |
nonsense |
probably null |
|
|
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'- CTGACTTTTCACTACACAGCCAAG -3'
(R):5'- CTACCTGCCCACAAGTTTAACTG -3'
Sequencing Primer
(F):5'- GCCAAGTAGCACTTAGAGCTGC -3'
(R):5'- CCACAAGTTTAACTGGATCAACTGG -3'
|
| Posted On |
2015-03-25 |
Incidental Mutation