Incidental Mutation 'R9506:Elovl1'
| ID |
717818 |
| Institutional Source |
Beutler Lab
|
| 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 |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R9506 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
118285290-118290150 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 118287912 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 16
(D16G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000006557
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000006557]
[ENSMUST00000006565]
[ENSMUST00000067896]
[ENSMUST00000102673]
[ENSMUST00000167636]
|
| AlphaFold |
Q9JLJ5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000006557
AA Change: D16G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000006557
Gene: ENSMUSG00000006390
AA Change: D16G
| 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 damaging
Transcript: ENSMUST00000067896
AA Change: D16G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000064816
Gene: ENSMUSG00000006390
AA Change: D16G
| 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 |
probably damaging
Transcript: ENSMUST00000167636
AA Change: D16G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000126685
Gene: ENSMUSG00000006390
AA Change: D16G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ELO
|
23 |
263 |
3.1e-66 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000183942
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| 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: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abi3bp |
A |
G |
16: 56,437,773 (GRCm39) |
T632A |
unknown |
Het |
| Atp2b1 |
T |
C |
10: 98,858,862 (GRCm39) |
S1182P |
probably benign |
Het |
| Best3 |
T |
A |
10: 116,839,826 (GRCm39) |
F225I |
probably damaging |
Het |
| Camk1g |
A |
G |
1: 193,030,363 (GRCm39) |
|
probably null |
Het |
| Cdc42bpb |
G |
A |
12: 111,261,372 (GRCm39) |
P1656S |
probably benign |
Het |
| Cflar |
A |
T |
1: 58,791,975 (GRCm39) |
Q426L |
|
Het |
| Chrna9 |
T |
A |
5: 66,128,213 (GRCm39) |
D140E |
probably damaging |
Het |
| Cmpk2 |
A |
G |
12: 26,519,850 (GRCm39) |
D167G |
probably benign |
Het |
| Csmd1 |
A |
G |
8: 16,250,023 (GRCm39) |
L985P |
probably damaging |
Het |
| Cutal |
A |
G |
2: 34,775,894 (GRCm39) |
D75G |
probably null |
Het |
| Dnah12 |
G |
T |
14: 26,514,168 (GRCm39) |
V1776F |
probably benign |
Het |
| Dnah6 |
A |
G |
6: 73,119,299 (GRCm39) |
V1528A |
probably damaging |
Het |
| Ermard |
T |
A |
17: 15,281,368 (GRCm39) |
L593M |
probably damaging |
Het |
| Fstl4 |
A |
G |
11: 53,024,950 (GRCm39) |
D274G |
probably benign |
Het |
| Gabrg1 |
C |
T |
5: 70,939,713 (GRCm39) |
V140M |
probably damaging |
Het |
| Glrx2 |
C |
T |
1: 143,622,270 (GRCm39) |
R89* |
probably null |
Het |
| Gsta3 |
A |
C |
1: 21,327,586 (GRCm39) |
D40A |
possibly damaging |
Het |
| H4c3 |
C |
T |
13: 23,882,264 (GRCm39) |
G57S |
probably benign |
Het |
| Hsf2 |
G |
A |
10: 57,381,241 (GRCm39) |
|
probably null |
Het |
| Ifi203 |
A |
G |
1: 173,751,565 (GRCm39) |
S833P |
possibly damaging |
Het |
| Ilk |
T |
C |
7: 105,390,020 (GRCm39) |
Y132H |
probably benign |
Het |
| Jup |
G |
A |
11: 100,267,704 (GRCm39) |
R540C |
probably damaging |
Het |
| Kdm7a |
T |
A |
6: 39,126,305 (GRCm39) |
H560L |
probably benign |
Het |
| Kynu |
T |
A |
2: 43,571,414 (GRCm39) |
N443K |
probably damaging |
Het |
| Mbd5 |
T |
C |
2: 49,162,919 (GRCm39) |
S1134P |
probably damaging |
Het |
| Mknk2 |
T |
C |
10: 80,503,918 (GRCm39) |
D331G |
probably benign |
Het |
| Mtfmt |
C |
T |
9: 65,343,147 (GRCm39) |
R18C |
probably benign |
Het |
| Myo5b |
A |
G |
18: 74,877,831 (GRCm39) |
Q1584R |
possibly damaging |
Het |
| Nup210 |
G |
A |
6: 91,048,856 (GRCm39) |
P467S |
possibly damaging |
Het |
| Nxf1 |
A |
G |
19: 8,749,508 (GRCm39) |
Y135C |
probably damaging |
Het |
| Or4a67 |
T |
C |
2: 88,597,840 (GRCm39) |
Y273C |
probably damaging |
Het |
| Rab11fip3 |
T |
G |
17: 26,213,250 (GRCm39) |
E853A |
probably damaging |
Het |
| Rap1gap2 |
A |
G |
11: 74,305,266 (GRCm39) |
M313T |
probably damaging |
Het |
| Rims2 |
G |
A |
15: 39,335,832 (GRCm39) |
V814I |
probably damaging |
Het |
| Sec16a |
A |
T |
2: 26,319,384 (GRCm39) |
|
probably null |
Het |
| Slc36a3 |
A |
G |
11: 55,039,457 (GRCm39) |
I57T |
probably benign |
Het |
| Slc5a9 |
G |
A |
4: 111,750,439 (GRCm39) |
R140* |
probably null |
Het |
| Tas2r131 |
T |
A |
6: 132,934,024 (GRCm39) |
T262S |
possibly damaging |
Het |
| Tigd3 |
G |
T |
19: 5,942,860 (GRCm39) |
A90D |
probably damaging |
Het |
| Txnrd3 |
A |
G |
6: 89,638,461 (GRCm39) |
M217V |
possibly damaging |
Het |
| Ube3d |
A |
G |
9: 86,330,825 (GRCm39) |
I119T |
probably damaging |
Het |
| Vcp |
A |
G |
4: 42,983,383 (GRCm39) |
V559A |
probably damaging |
Het |
| Vmn1r173 |
T |
A |
7: 23,401,963 (GRCm39) |
I66N |
probably damaging |
Het |
| Vmn1r234 |
T |
G |
17: 21,449,503 (GRCm39) |
I139S |
probably benign |
Het |
| Vmn2r105 |
C |
T |
17: 20,429,404 (GRCm39) |
M557I |
probably benign |
Het |
| Wnt7b |
A |
G |
15: 85,465,613 (GRCm39) |
S22P |
unknown |
Het |
| Zfp850 |
C |
A |
7: 27,688,987 (GRCm39) |
R407L |
possibly damaging |
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCTGTTGTGAACTTGTACCACG -3'
(R):5'- TTCCAGCCTACCTCATAGACAATG -3'
Sequencing Primer
(F):5'- TGAACTTGTACCACGAGCTG -3'
(R):5'- GCCTACCTCATAGACAATGTAGAGG -3'
|
| Posted On |
2022-07-18 |
Incidental Mutation