Incidental Mutation 'IGL00923:Elp6'
| ID |
28162 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Elp6
|
| Ensembl Gene |
ENSMUSG00000054836 |
| Gene Name |
elongator acetyltransferase complex subunit 6 |
| Synonyms |
2610002I17Rik, 2610001P13Rik, Tmem103 |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.943)
|
| Stock # |
IGL00923
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
9 |
| Chromosomal Location |
110134241-110151170 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 110139193 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Serine
at position 29
(T29S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000142823
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000068071]
[ENSMUST00000198247]
[ENSMUST00000199114]
[ENSMUST00000199592]
|
| AlphaFold |
Q8BK75 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000068071
AA Change: T26S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000069017
Gene: ENSMUSG00000054836
AA Change: T26S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ELP6
|
2 |
251 |
7.4e-117 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000196855
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000198247
AA Change: T29S
PolyPhen 2
Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000143595
Gene: ENSMUSG00000054836
AA Change: T29S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ELP6
|
2 |
110 |
6.2e-53 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000199114
AA Change: T46S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000143622
Gene: ENSMUSG00000054836
AA Change: T46S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ELP6
|
18 |
166 |
6.9e-61 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000199592
AA Change: T29S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000142823
Gene: ENSMUSG00000054836
AA Change: T29S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF2348
|
1 |
251 |
1.5e-132 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 27 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts3 |
T |
A |
5: 89,832,235 (GRCm39) |
E956V |
probably benign |
Het |
| Adcy2 |
C |
T |
13: 68,768,915 (GRCm39) |
G1071E |
probably damaging |
Het |
| Adgrv1 |
A |
T |
13: 81,530,410 (GRCm39) |
V5888D |
probably damaging |
Het |
| Arhgef12 |
G |
A |
9: 42,931,920 (GRCm39) |
T189I |
probably damaging |
Het |
| Cp |
T |
C |
3: 20,024,165 (GRCm39) |
L335P |
probably damaging |
Het |
| Cwf19l1 |
A |
G |
19: 44,119,849 (GRCm39) |
|
probably null |
Het |
| Dgki |
A |
T |
6: 36,839,391 (GRCm39) |
N933K |
probably benign |
Het |
| Dixdc1 |
G |
T |
9: 50,579,033 (GRCm39) |
A660D |
probably damaging |
Het |
| Dnajc9 |
T |
C |
14: 20,435,515 (GRCm39) |
D232G |
probably benign |
Het |
| Dock9 |
A |
G |
14: 121,844,504 (GRCm39) |
|
probably benign |
Het |
| Fam8a1 |
T |
C |
13: 46,827,147 (GRCm39) |
|
probably null |
Het |
| Fbn2 |
A |
T |
18: 58,145,397 (GRCm39) |
D2746E |
probably benign |
Het |
| Hnrnpm |
C |
A |
17: 33,868,876 (GRCm39) |
R517L |
probably damaging |
Het |
| Mtss1 |
G |
T |
15: 58,815,348 (GRCm39) |
N737K |
possibly damaging |
Het |
| Nbas |
T |
C |
12: 13,386,285 (GRCm39) |
V737A |
possibly damaging |
Het |
| Ndrg1 |
A |
T |
15: 66,814,959 (GRCm39) |
N164K |
probably damaging |
Het |
| Nrtn |
A |
G |
17: 57,059,447 (GRCm39) |
S11P |
probably damaging |
Het |
| Or4c11c |
T |
G |
2: 88,661,456 (GRCm39) |
|
probably null |
Het |
| Or4f62 |
T |
A |
2: 111,987,122 (GRCm39) |
D275E |
possibly damaging |
Het |
| Rab10 |
T |
A |
12: 3,303,334 (GRCm39) |
M118L |
probably benign |
Het |
| Slc11a2 |
A |
G |
15: 100,295,669 (GRCm39) |
V175A |
probably benign |
Het |
| Tex21 |
T |
A |
12: 76,291,885 (GRCm39) |
D12V |
probably damaging |
Het |
| Ttn |
T |
A |
2: 76,731,272 (GRCm39) |
|
probably benign |
Het |
| Vmn1r215 |
G |
A |
13: 23,260,419 (GRCm39) |
G153D |
probably damaging |
Het |
| Zc3h4 |
A |
G |
7: 16,163,617 (GRCm39) |
D612G |
unknown |
Het |
| Zfp354c |
A |
T |
11: 50,706,440 (GRCm39) |
Y212N |
probably damaging |
Het |
| Zmiz2 |
T |
A |
11: 6,352,845 (GRCm39) |
M631K |
probably damaging |
Het |
|
| Other mutations in Elp6 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
R1438:Elp6
|
UTSW |
9 |
110,143,123 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2311:Elp6
|
UTSW |
9 |
110,149,886 (GRCm39) |
missense |
probably benign |
0.33 |
|
R4612:Elp6
|
UTSW |
9 |
110,143,087 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4976:Elp6
|
UTSW |
9 |
110,143,141 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R5421:Elp6
|
UTSW |
9 |
110,143,132 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5433:Elp6
|
UTSW |
9 |
110,144,851 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6755:Elp6
|
UTSW |
9 |
110,144,893 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R7502:Elp6
|
UTSW |
9 |
110,134,376 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R7773:Elp6
|
UTSW |
9 |
110,141,627 (GRCm39) |
splice site |
probably null |
|
|
R8264:Elp6
|
UTSW |
9 |
110,148,755 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9104:Elp6
|
UTSW |
9 |
110,134,397 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9251:Elp6
|
UTSW |
9 |
110,134,666 (GRCm39) |
missense |
unknown |
|
|
R9375:Elp6
|
UTSW |
9 |
110,144,852 (GRCm39) |
nonsense |
probably null |
|
|
R9443:Elp6
|
UTSW |
9 |
110,150,004 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9553:Elp6
|
UTSW |
9 |
110,144,965 (GRCm39) |
missense |
probably damaging |
1.00 |
|
RF017:Elp6
|
UTSW |
9 |
110,148,777 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2013-04-17 |
Incidental Mutation