Incidental Mutation 'R0016:Elovl3'
| ID |
8245 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Elovl3
|
| Ensembl Gene |
ENSMUSG00000038754 |
| Gene Name |
ELOVL fatty acid elongase 3 |
| Synonyms |
CIN-2, Cig30, elongation of very long chain fatty acids (FEN1/Elo2, SUR4/Elo3, yeast)-like 3 |
| MMRRC Submission |
038311-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.085)
|
| Stock # |
R0016 (G1)
|
| Quality Score |
|
|
Status
|
Validated
|
| Chromosome |
19 |
| Chromosomal Location |
46120336-46124133 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 46120597 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Tyrosine
at position 30
(F30Y)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000036357
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026259]
[ENSMUST00000043739]
[ENSMUST00000172971]
|
| AlphaFold |
O35949 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000026259
|
| SMART Domains |
Protein: ENSMUSP00000026259
Gene: ENSMUSG00000025229
| Domain | Start | End | E-Value | Type |
|---|
|
HOX
|
62 |
124 |
3.48e-26 |
SMART |
|
low complexity region
|
157 |
174 |
N/A |
INTRINSIC |
|
low complexity region
|
189 |
236 |
N/A |
INTRINSIC |
|
low complexity region
|
240 |
252 |
N/A |
INTRINSIC |
|
Pfam:OAR
|
258 |
276 |
3e-11 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000043739
AA Change: F30Y
PolyPhen 2
Score 0.971 (Sensitivity: 0.77; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000036357
Gene: ENSMUSG00000038754
AA Change: F30Y
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ELO
|
30 |
267 |
2.9e-66 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000172971
|
| SMART Domains |
Protein: ENSMUSP00000134563
Gene: ENSMUSG00000025229
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Homeobox
|
63 |
91 |
1e-8 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000172980
|
| Meta Mutation Damage Score |
0.4092 |
| Coding Region Coverage |
- 1x: 81.7%
- 3x: 74.6%
- 10x: 53.6%
- 20x: 32.4%
|
| Validation Efficiency |
93% (85/91) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that belongs to the GNS1/SUR4 family. Members of this family play a role in elongation of long chain fatty acids to provide precursors for synthesis of sphingolipids and ceramides. [provided by RefSeq, Jul 2013]
PHENOTYPE: Homozygous mutants have a sparse coat, hyperplastic pilosebaceous system, and abnormal hair lipid content with high levels of eicosenoic acid. Liver and brown adipose tissue functions are normal. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca12 |
A |
C |
1: 71,333,959 (GRCm39) |
V1181G |
probably benign |
Het |
| Adamts12 |
A |
T |
15: 11,217,915 (GRCm39) |
I291F |
probably damaging |
Het |
| Aspm |
G |
C |
1: 139,407,282 (GRCm39) |
Q2056H |
probably benign |
Het |
| C7 |
A |
T |
15: 5,076,406 (GRCm39) |
V122E |
probably benign |
Het |
| Casp12 |
A |
T |
9: 5,352,844 (GRCm39) |
Q152L |
probably null |
Het |
| Cpne8 |
A |
G |
15: 90,385,608 (GRCm39) |
|
probably benign |
Het |
| Cspg4b |
T |
C |
13: 113,502,639 (GRCm39) |
Y115H |
probably damaging |
Het |
| Cyp2j7 |
T |
A |
4: 96,090,384 (GRCm39) |
I347F |
probably damaging |
Het |
| Dync2h1 |
A |
G |
9: 7,144,346 (GRCm39) |
|
probably benign |
Het |
| Echdc1 |
A |
T |
10: 29,198,417 (GRCm39) |
|
probably benign |
Het |
| Fgd3 |
C |
T |
13: 49,450,085 (GRCm39) |
D55N |
probably benign |
Het |
| Fhod1 |
T |
C |
8: 106,058,287 (GRCm39) |
E823G |
possibly damaging |
Het |
| Gapvd1 |
A |
G |
2: 34,589,925 (GRCm39) |
|
probably benign |
Het |
| Helz2 |
C |
A |
2: 180,874,552 (GRCm39) |
G1981C |
probably damaging |
Het |
| Kif27 |
A |
G |
13: 58,502,528 (GRCm39) |
V50A |
probably damaging |
Het |
| Lrp2bp |
T |
A |
8: 46,465,068 (GRCm39) |
F62L |
probably damaging |
Het |
| Marf1 |
G |
A |
16: 13,970,129 (GRCm39) |
H197Y |
probably damaging |
Het |
| Mon2 |
C |
T |
10: 122,871,451 (GRCm39) |
V389M |
probably damaging |
Het |
| Myh8 |
A |
G |
11: 67,189,351 (GRCm39) |
K1176E |
probably damaging |
Het |
| Nckap1l |
A |
G |
15: 103,384,063 (GRCm39) |
T554A |
probably benign |
Het |
| Oog3 |
A |
G |
4: 143,884,641 (GRCm39) |
Y432H |
probably damaging |
Het |
| Sorbs1 |
A |
G |
19: 40,303,182 (GRCm39) |
|
probably benign |
Het |
| Srgap2 |
A |
G |
1: 131,277,200 (GRCm39) |
M349T |
possibly damaging |
Het |
| Stc2 |
A |
T |
11: 31,310,177 (GRCm39) |
D286E |
probably benign |
Het |
| Stk31 |
T |
C |
6: 49,414,311 (GRCm39) |
Y482H |
probably damaging |
Het |
| Sycp2l |
A |
G |
13: 41,310,976 (GRCm39) |
|
probably benign |
Het |
| Tasor2 |
A |
C |
13: 3,635,170 (GRCm39) |
|
probably null |
Het |
| Trgv5 |
G |
A |
13: 19,376,889 (GRCm39) |
W112* |
probably null |
Het |
| Trim27 |
A |
T |
13: 21,375,399 (GRCm39) |
E310V |
probably benign |
Het |
| Uvrag |
T |
C |
7: 98,641,188 (GRCm39) |
K284R |
probably benign |
Het |
| Xylt2 |
A |
G |
11: 94,560,466 (GRCm39) |
S270P |
probably damaging |
Het |
| Zwint |
T |
C |
10: 72,493,030 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Elovl3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02578:Elovl3
|
APN |
19 |
46,123,132 (GRCm39) |
missense |
possibly damaging |
0.54 |
|
R0016:Elovl3
|
UTSW |
19 |
46,120,597 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R2040:Elovl3
|
UTSW |
19 |
46,121,567 (GRCm39) |
missense |
probably benign |
0.11 |
|
R2074:Elovl3
|
UTSW |
19 |
46,120,606 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2311:Elovl3
|
UTSW |
19 |
46,121,639 (GRCm39) |
missense |
probably benign |
|
|
R4866:Elovl3
|
UTSW |
19 |
46,120,603 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R5092:Elovl3
|
UTSW |
19 |
46,122,961 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5265:Elovl3
|
UTSW |
19 |
46,123,120 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5278:Elovl3
|
UTSW |
19 |
46,122,540 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5375:Elovl3
|
UTSW |
19 |
46,123,135 (GRCm39) |
missense |
probably benign |
0.07 |
|
R6220:Elovl3
|
UTSW |
19 |
46,122,939 (GRCm39) |
missense |
probably benign |
0.32 |
|
R7267:Elovl3
|
UTSW |
19 |
46,122,979 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7937:Elovl3
|
UTSW |
19 |
46,123,168 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9008:Elovl3
|
UTSW |
19 |
46,123,087 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R9319:Elovl3
|
UTSW |
19 |
46,122,507 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R9723:Elovl3
|
UTSW |
19 |
46,123,155 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2012-11-21 |
Incidental Mutation