Incidental Mutation 'IGL01613:Elovl1'
ID |
92246 |
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 # |
IGL01613
|
Quality Score |
|
Status
|
|
Chromosome |
4 |
Chromosomal Location |
118285290-118290150 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 118288467 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 108
(V108A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000126685
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000006557]
[ENSMUST00000006565]
[ENSMUST00000067896]
[ENSMUST00000102673]
[ENSMUST00000167636]
|
AlphaFold |
Q9JLJ5 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000006557
AA Change: V108A
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000006557 Gene: ENSMUSG00000006390 AA Change: V108A
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 benign
Transcript: ENSMUST00000067896
AA Change: V108A
PolyPhen 2
Score 0.062 (Sensitivity: 0.94; Specificity: 0.84)
|
SMART Domains |
Protein: ENSMUSP00000064816 Gene: ENSMUSG00000006390 AA Change: V108A
Domain | Start | End | E-Value | Type |
Pfam:ELO
|
23 |
262 |
8.5e-67 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000102673
AA Change: V31A
PolyPhen 2
Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
|
SMART Domains |
Protein: ENSMUSP00000099734 Gene: ENSMUSG00000006390 AA Change: V31A
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 benign
Transcript: ENSMUST00000167636
AA Change: V108A
PolyPhen 2
Score 0.062 (Sensitivity: 0.94; Specificity: 0.84)
|
SMART Domains |
Protein: ENSMUSP00000126685 Gene: ENSMUSG00000006390 AA Change: V108A
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: 48 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aacs |
T |
G |
5: 125,589,716 (GRCm39) |
M446R |
possibly damaging |
Het |
Abca16 |
A |
G |
7: 120,140,500 (GRCm39) |
N1599S |
probably benign |
Het |
Ankib1 |
G |
A |
5: 3,763,146 (GRCm39) |
Q528* |
probably null |
Het |
Ano10 |
A |
T |
9: 122,088,606 (GRCm39) |
L347M |
possibly damaging |
Het |
Bag6 |
T |
C |
17: 35,361,992 (GRCm39) |
|
probably benign |
Het |
Bpnt1 |
T |
C |
1: 185,086,191 (GRCm39) |
V182A |
possibly damaging |
Het |
Capn13 |
G |
T |
17: 73,638,053 (GRCm39) |
T450N |
probably benign |
Het |
Cbr3 |
A |
T |
16: 93,480,331 (GRCm39) |
E40V |
probably benign |
Het |
Cdk10 |
T |
C |
8: 123,955,126 (GRCm39) |
I159T |
probably damaging |
Het |
Cela3b |
T |
C |
4: 137,152,382 (GRCm39) |
D65G |
possibly damaging |
Het |
Csf2rb |
T |
G |
15: 78,219,502 (GRCm39) |
|
probably benign |
Het |
Cyp2b19 |
C |
T |
7: 26,462,886 (GRCm39) |
T256I |
possibly damaging |
Het |
Dpp9 |
T |
C |
17: 56,497,713 (GRCm39) |
H687R |
probably benign |
Het |
Emb |
T |
A |
13: 117,408,614 (GRCm39) |
N318K |
probably damaging |
Het |
Ermp1 |
A |
G |
19: 29,617,339 (GRCm39) |
L36P |
probably damaging |
Het |
Esco2 |
T |
G |
14: 66,064,044 (GRCm39) |
H380P |
possibly damaging |
Het |
Gm9747 |
G |
A |
1: 82,211,809 (GRCm39) |
|
probably benign |
Het |
Golga1 |
A |
G |
2: 38,910,138 (GRCm39) |
M603T |
probably benign |
Het |
Hsph1 |
A |
G |
5: 149,550,743 (GRCm39) |
V411A |
probably benign |
Het |
Igsf21 |
C |
T |
4: 139,834,675 (GRCm39) |
G66S |
possibly damaging |
Het |
Ints11 |
T |
C |
4: 155,969,655 (GRCm39) |
|
probably null |
Het |
Jakmip1 |
G |
T |
5: 37,258,112 (GRCm39) |
A253S |
probably damaging |
Het |
Met |
A |
G |
6: 17,540,576 (GRCm39) |
Y834C |
probably damaging |
Het |
Mgl2 |
A |
G |
11: 70,024,984 (GRCm39) |
T2A |
probably benign |
Het |
Myh2 |
G |
T |
11: 67,088,170 (GRCm39) |
V1929L |
probably benign |
Het |
Myh8 |
T |
C |
11: 67,192,536 (GRCm39) |
S1472P |
probably benign |
Het |
Myo1e |
T |
C |
9: 70,248,555 (GRCm39) |
|
probably benign |
Het |
Ndufaf7 |
A |
G |
17: 79,244,931 (GRCm39) |
I17V |
probably benign |
Het |
Or4a47 |
T |
C |
2: 89,666,152 (GRCm39) |
T46A |
probably damaging |
Het |
Or5ak22 |
C |
T |
2: 85,230,515 (GRCm39) |
D121N |
probably damaging |
Het |
Or5h25 |
A |
T |
16: 58,930,284 (GRCm39) |
S230T |
probably damaging |
Het |
Or6c6c |
A |
G |
10: 129,541,492 (GRCm39) |
I248M |
probably benign |
Het |
Or7g18 |
T |
A |
9: 18,786,617 (GRCm39) |
|
probably benign |
Het |
Or8b50 |
A |
G |
9: 38,517,850 (GRCm39) |
I30V |
probably null |
Het |
Or8k1 |
T |
G |
2: 86,047,505 (GRCm39) |
D183A |
probably damaging |
Het |
Ppef2 |
T |
C |
5: 92,383,679 (GRCm39) |
E477G |
probably benign |
Het |
Scmh1 |
T |
A |
4: 120,387,097 (GRCm39) |
|
probably benign |
Het |
Scn1a |
C |
A |
2: 66,116,281 (GRCm39) |
D1473Y |
probably damaging |
Het |
Sdr42e1 |
C |
T |
8: 118,389,676 (GRCm39) |
V322I |
probably benign |
Het |
Slco1a7 |
G |
T |
6: 141,658,940 (GRCm39) |
T552K |
possibly damaging |
Het |
Spta1 |
G |
A |
1: 174,035,960 (GRCm39) |
A1089T |
probably damaging |
Het |
Sufu |
T |
C |
19: 46,464,059 (GRCm39) |
Y424H |
probably damaging |
Het |
Tgs1 |
T |
C |
4: 3,585,183 (GRCm39) |
F108L |
possibly damaging |
Het |
Ttn |
T |
C |
2: 76,805,308 (GRCm39) |
N177S |
probably benign |
Het |
Tyk2 |
T |
C |
9: 21,031,872 (GRCm39) |
D401G |
probably damaging |
Het |
Vav1 |
T |
C |
17: 57,614,067 (GRCm39) |
F650L |
possibly damaging |
Het |
Wdr12 |
T |
C |
1: 60,119,718 (GRCm39) |
H385R |
probably damaging |
Het |
Xab2 |
T |
C |
8: 3,660,880 (GRCm39) |
M745V |
probably benign |
Het |
|
Other mutations in Elovl1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01544:Elovl1
|
APN |
4 |
118,288,107 (GRCm39) |
splice site |
probably null |
|
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 |
2013-12-09 |