Incidental Mutation 'IGL01544:Elovl1'
| ID |
90275 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Elovl1
|
| Ensembl Gene |
ENSMUSG00000006390 |
| Gene Name |
ELOVL fatty acid elongase 1 |
| Synonyms |
Ssc1, elongation of very long chain fatty acids (FEN1/Elo2, SUR4/Elo3, yeast)-like 1 |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL01544
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
118285290-118290150 bp(+) (GRCm39) |
| Type of Mutation |
splice site (5 bp from exon) |
| DNA Base Change (assembly) |
G to A
at 118288107 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000126685
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000006557]
[ENSMUST00000006565]
[ENSMUST00000067896]
[ENSMUST00000102673]
[ENSMUST00000167636]
|
| AlphaFold |
Q9JLJ5 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000006557
|
| SMART Domains |
Protein: ENSMUSP00000006557
Gene: ENSMUSG00000006390
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ELO
|
23 |
263 |
3.1e-66 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000006565
|
| SMART Domains |
Protein: ENSMUSP00000006565
Gene: ENSMUSG00000006398
| Domain | Start | End | E-Value | Type |
|---|
|
WD40
|
169 |
210 |
7.36e1 |
SMART |
|
WD40
|
215 |
254 |
3.64e-2 |
SMART |
|
WD40
|
257 |
294 |
9.6e-2 |
SMART |
|
WD40
|
298 |
337 |
1.62e-8 |
SMART |
|
WD40
|
344 |
386 |
8.29e-6 |
SMART |
|
WD40
|
389 |
429 |
2.21e1 |
SMART |
|
WD40
|
432 |
471 |
7.85e-7 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000067896
|
| SMART Domains |
Protein: ENSMUSP00000064816
Gene: ENSMUSG00000006390
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ELO
|
23 |
262 |
8.5e-67 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000102673
|
| SMART Domains |
Protein: ENSMUSP00000099734
Gene: ENSMUSG00000006390
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ELO
|
2 |
186 |
5.8e-52 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000129419
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000135162
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143140
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000167636
|
| SMART Domains |
Protein: ENSMUSP00000126685
Gene: ENSMUSG00000006390
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ELO
|
23 |
263 |
3.1e-66 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151302
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000183942
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Mice hoozygous for a targeted allele exhibit complete neonatal lethality, abnormal skin morphology, impaired skin barrier function, decreased weight and impaired formation of very long chain fatty acids. [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 |
|---|
| Arap3 |
G |
A |
18: 38,123,889 (GRCm39) |
R377C |
probably damaging |
Het |
| Bbx |
C |
A |
16: 50,095,140 (GRCm39) |
E59* |
probably null |
Het |
| Cep120 |
C |
T |
18: 53,819,033 (GRCm39) |
R886H |
probably benign |
Het |
| Cep350 |
C |
A |
1: 155,828,933 (GRCm39) |
V324L |
probably damaging |
Het |
| Cry1 |
T |
A |
10: 84,982,360 (GRCm39) |
K329* |
probably null |
Het |
| Dhtkd1 |
T |
C |
2: 5,918,342 (GRCm39) |
N627S |
probably benign |
Het |
| Dpp8 |
A |
T |
9: 64,962,270 (GRCm39) |
T437S |
probably benign |
Het |
| Heca |
A |
G |
10: 17,791,715 (GRCm39) |
Y114H |
probably damaging |
Het |
| Hrh4 |
A |
G |
18: 13,148,950 (GRCm39) |
N104S |
probably benign |
Het |
| Ift80 |
T |
A |
3: 68,898,115 (GRCm39) |
K73N |
probably benign |
Het |
| Ina |
T |
C |
19: 47,003,948 (GRCm39) |
V252A |
possibly damaging |
Het |
| Klhl36 |
A |
G |
8: 120,596,755 (GRCm39) |
E152G |
possibly damaging |
Het |
| Lamp5 |
T |
A |
2: 135,910,990 (GRCm39) |
L241Q |
probably damaging |
Het |
| Lrp4 |
G |
A |
2: 91,307,896 (GRCm39) |
R447H |
probably damaging |
Het |
| Mmp24 |
G |
A |
2: 155,641,807 (GRCm39) |
G212R |
probably damaging |
Het |
| Mpp3 |
A |
G |
11: 101,909,485 (GRCm39) |
V191A |
possibly damaging |
Het |
| Mtmr4 |
A |
G |
11: 87,488,437 (GRCm39) |
|
probably benign |
Het |
| Mynn |
C |
A |
3: 30,661,854 (GRCm39) |
S312* |
probably null |
Het |
| Neb |
T |
A |
2: 52,182,917 (GRCm39) |
I1010F |
possibly damaging |
Het |
| Nes |
T |
C |
3: 87,885,271 (GRCm39) |
S1177P |
possibly damaging |
Het |
| Noct |
T |
C |
3: 51,155,469 (GRCm39) |
V79A |
probably damaging |
Het |
| Rad1 |
A |
G |
15: 10,490,465 (GRCm39) |
D114G |
probably damaging |
Het |
| Slc26a9 |
T |
C |
1: 131,687,233 (GRCm39) |
|
probably null |
Het |
| Sqor |
G |
A |
2: 122,634,266 (GRCm39) |
|
probably benign |
Het |
| Sspo |
G |
T |
6: 48,467,953 (GRCm39) |
W4309L |
probably damaging |
Het |
| Thoc7 |
A |
C |
14: 13,953,435 (GRCm38) |
Y72D |
probably damaging |
Het |
| Thra |
A |
G |
11: 98,647,754 (GRCm39) |
I43V |
possibly damaging |
Het |
| Timm44 |
G |
T |
8: 4,325,888 (GRCm39) |
|
probably benign |
Het |
| Trmo |
C |
T |
4: 46,386,169 (GRCm39) |
G119R |
probably damaging |
Het |
| Trpc4 |
T |
C |
3: 54,209,567 (GRCm39) |
M644T |
probably damaging |
Het |
| Wdr72 |
C |
T |
9: 74,056,007 (GRCm39) |
L300F |
probably damaging |
Het |
| Wrn |
T |
C |
8: 33,814,554 (GRCm39) |
T54A |
probably benign |
Het |
|
| Other mutations in Elovl1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01613:Elovl1
|
APN |
4 |
118,288,467 (GRCm39) |
missense |
probably benign |
0.06 |
|
IGL02598:Elovl1
|
APN |
4 |
118,288,616 (GRCm39) |
splice site |
probably null |
|
|
IGL03082:Elovl1
|
APN |
4 |
118,288,077 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1323:Elovl1
|
UTSW |
4 |
118,288,851 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R1323:Elovl1
|
UTSW |
4 |
118,288,851 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R1521:Elovl1
|
UTSW |
4 |
118,289,197 (GRCm39) |
missense |
probably benign |
0.14 |
|
R1765:Elovl1
|
UTSW |
4 |
118,287,707 (GRCm39) |
start codon destroyed |
probably null |
0.13 |
|
R1894:Elovl1
|
UTSW |
4 |
118,287,945 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2139:Elovl1
|
UTSW |
4 |
118,288,303 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4667:Elovl1
|
UTSW |
4 |
118,287,984 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4957:Elovl1
|
UTSW |
4 |
118,289,120 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5262:Elovl1
|
UTSW |
4 |
118,288,124 (GRCm39) |
unclassified |
probably benign |
|
|
R5665:Elovl1
|
UTSW |
4 |
118,288,832 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5775:Elovl1
|
UTSW |
4 |
118,288,094 (GRCm39) |
missense |
probably benign |
0.27 |
|
R6676:Elovl1
|
UTSW |
4 |
118,287,700 (GRCm39) |
unclassified |
probably benign |
|
|
R7221:Elovl1
|
UTSW |
4 |
118,288,811 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8701:Elovl1
|
UTSW |
4 |
118,287,707 (GRCm39) |
start codon destroyed |
probably benign |
0.00 |
|
R8971:Elovl1
|
UTSW |
4 |
118,288,709 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9129:Elovl1
|
UTSW |
4 |
118,289,156 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R9506:Elovl1
|
UTSW |
4 |
118,287,912 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2013-12-03 |
Incidental Mutation