Incidental Mutation 'R2311:Elovl3'
| ID |
245364 |
| 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 |
040310-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.085)
|
| Stock # |
R2311 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
19 |
| Chromosomal Location |
46120336-46124133 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 46121639 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Glycine
at position 61
(S61G)
|
| 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 benign
Transcript: ENSMUST00000043739
AA Change: S61G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000036357
Gene: ENSMUSG00000038754
AA Change: S61G
| 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 |
0.0898 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.3%
|
| 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 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: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Apol7e |
G |
A |
15: 77,602,236 (GRCm39) |
R278H |
probably benign |
Het |
| Arhgef17 |
A |
G |
7: 100,578,111 (GRCm39) |
S946P |
probably benign |
Het |
| Capsl |
A |
T |
15: 9,462,689 (GRCm39) |
R110* |
probably null |
Het |
| Ddx41 |
G |
A |
13: 55,682,293 (GRCm39) |
R205W |
possibly damaging |
Het |
| Dock8 |
T |
A |
19: 25,160,368 (GRCm39) |
I1757N |
possibly damaging |
Het |
| Dthd1 |
T |
C |
5: 62,996,580 (GRCm39) |
|
probably benign |
Het |
| Eif5a2 |
A |
G |
3: 28,836,325 (GRCm39) |
E42G |
possibly damaging |
Het |
| Elp4 |
T |
C |
2: 105,672,677 (GRCm39) |
N136S |
probably benign |
Het |
| Elp6 |
A |
G |
9: 110,149,886 (GRCm39) |
S223G |
probably benign |
Het |
| Eml1 |
T |
A |
12: 108,503,675 (GRCm39) |
D743E |
probably damaging |
Het |
| Ezh2 |
T |
C |
6: 47,535,194 (GRCm39) |
Q85R |
probably damaging |
Het |
| Fermt3 |
C |
A |
19: 6,991,530 (GRCm39) |
C194F |
probably damaging |
Het |
| Flg |
A |
G |
3: 93,200,260 (GRCm39) |
|
probably benign |
Het |
| Gfi1b |
C |
T |
2: 28,500,186 (GRCm39) |
G282R |
probably damaging |
Het |
| Gpr176 |
A |
T |
2: 118,109,927 (GRCm39) |
I444K |
probably benign |
Het |
| Gvin-ps3 |
T |
C |
7: 105,682,797 (GRCm39) |
K153E |
probably damaging |
Het |
| Gys2 |
A |
T |
6: 142,408,970 (GRCm39) |
M95K |
possibly damaging |
Het |
| Hgs |
C |
T |
11: 120,370,474 (GRCm39) |
R167W |
probably damaging |
Het |
| Map3k20 |
T |
C |
2: 72,198,784 (GRCm39) |
I130T |
probably damaging |
Het |
| Nckap5 |
A |
T |
1: 126,456,489 (GRCm39) |
Y25N |
probably damaging |
Het |
| Npc1 |
C |
T |
18: 12,335,240 (GRCm39) |
V629I |
probably benign |
Het |
| Nrl |
C |
A |
14: 55,759,909 (GRCm39) |
S6I |
probably damaging |
Het |
| Or10am5 |
A |
T |
7: 6,517,741 (GRCm39) |
M229K |
probably benign |
Het |
| Or4c29 |
T |
A |
2: 88,739,813 (GRCm39) |
D308V |
probably benign |
Het |
| Or5d37 |
T |
C |
2: 87,924,178 (GRCm39) |
N34S |
probably benign |
Het |
| Oxct2b |
T |
C |
4: 123,011,211 (GRCm39) |
F377S |
probably damaging |
Het |
| Plb1 |
T |
C |
5: 32,427,162 (GRCm39) |
S91P |
probably benign |
Het |
| Plxna2 |
C |
T |
1: 194,431,625 (GRCm39) |
S538F |
probably damaging |
Het |
| Postn |
A |
T |
3: 54,292,644 (GRCm39) |
Y737F |
probably damaging |
Het |
| Serpina1e |
T |
A |
12: 103,917,388 (GRCm39) |
I94F |
possibly damaging |
Het |
| Serpine2 |
A |
G |
1: 79,788,265 (GRCm39) |
|
probably benign |
Het |
| Stox2 |
T |
C |
8: 47,645,013 (GRCm39) |
R816G |
probably damaging |
Het |
| Tep1 |
T |
C |
14: 51,071,024 (GRCm39) |
N2092D |
possibly damaging |
Het |
| Tmem186 |
A |
G |
16: 8,453,748 (GRCm39) |
V171A |
probably benign |
Het |
| Trim58 |
G |
A |
11: 58,533,934 (GRCm39) |
V163M |
probably benign |
Het |
| Trim59 |
G |
T |
3: 68,945,162 (GRCm39) |
C59* |
probably null |
Het |
| Ulk1 |
C |
T |
5: 110,937,223 (GRCm39) |
R691Q |
probably benign |
Het |
| Vill |
A |
G |
9: 118,894,965 (GRCm39) |
N61S |
probably benign |
Het |
| Zer1 |
C |
T |
2: 29,991,834 (GRCm39) |
R662H |
probably damaging |
Het |
| Zfp644 |
A |
C |
5: 106,782,822 (GRCm39) |
V1184G |
probably benign |
Het |
| Zfp974 |
A |
G |
7: 27,609,866 (GRCm39) |
S620P |
possibly damaging |
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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCTGTGAATACTGCCAAGGC -3'
(R):5'- CCCAGGTACTATGGAAAAGAAGTC -3'
Sequencing Primer
(F):5'- GCATCATACTGCTGAAGCTCTAG -3'
(R):5'- AGTCGACGTGGCTGAGG -3'
|
| Posted On |
2014-10-30 |
Incidental Mutation