Incidental Mutation 'IGL00648:Elp4'
ID |
10469 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Elp4
|
Ensembl Gene |
ENSMUSG00000027167 |
Gene Name |
elongator acetyltransferase complex subunit 4 |
Synonyms |
A330107A17Rik, Paxneb |
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.963)
|
Stock # |
IGL00648
|
Quality Score |
|
Status
|
|
Chromosome |
2 |
Chromosomal Location |
105531372-105734909 bp(-) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
A to T
at 105672711 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000116575
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028588]
[ENSMUST00000122965]
|
AlphaFold |
Q9ER73 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000028588
|
SMART Domains |
Protein: ENSMUSP00000028588 Gene: ENSMUSG00000027167
Domain | Start | End | E-Value | Type |
Pfam:PAXNEB
|
2 |
270 |
9.1e-69 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000122965
|
SMART Domains |
Protein: ENSMUSP00000116575 Gene: ENSMUSG00000027167
Domain | Start | End | E-Value | Type |
Pfam:PAXNEB
|
28 |
422 |
4e-123 |
PFAM |
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a component of the six subunit elongator complex, a histone acetyltransferase complex that associates directly with RNA polymerase II during transcriptional elongation. The human gene can partially complement sensitivity phenotypes of yeast ELP4 deletion mutants. This gene has also been associated with Rolandic epilepsy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2013]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 12 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Cage1 |
G |
T |
13: 38,206,969 (GRCm39) |
S398* |
probably null |
Het |
Calr |
T |
A |
8: 85,569,331 (GRCm39) |
|
probably benign |
Het |
Cmah |
A |
T |
13: 24,644,259 (GRCm39) |
K459* |
probably null |
Het |
Edem1 |
T |
A |
6: 108,828,168 (GRCm39) |
|
probably null |
Het |
Fam3b |
C |
T |
16: 97,279,599 (GRCm39) |
G110E |
probably damaging |
Het |
Fmnl3 |
G |
A |
15: 99,220,551 (GRCm39) |
T577I |
probably damaging |
Het |
Nbea |
A |
G |
3: 55,916,681 (GRCm39) |
S860P |
probably damaging |
Het |
Nlrp1a |
T |
C |
11: 70,983,783 (GRCm39) |
T1082A |
probably benign |
Het |
Pbrm1 |
A |
T |
14: 30,774,240 (GRCm39) |
I469F |
probably damaging |
Het |
Ptprq |
G |
A |
10: 107,482,577 (GRCm39) |
L999F |
probably benign |
Het |
Taar6 |
C |
T |
10: 23,861,406 (GRCm39) |
V47M |
probably benign |
Het |
Tom1l2 |
T |
C |
11: 60,151,942 (GRCm39) |
Y155C |
possibly damaging |
Het |
|
Other mutations in Elp4 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01407:Elp4
|
APN |
2 |
105,622,653 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02173:Elp4
|
APN |
2 |
105,533,088 (GRCm39) |
missense |
probably damaging |
0.96 |
IGL02370:Elp4
|
APN |
2 |
105,624,937 (GRCm39) |
missense |
probably damaging |
1.00 |
R0125:Elp4
|
UTSW |
2 |
105,622,559 (GRCm39) |
critical splice donor site |
probably null |
|
R0685:Elp4
|
UTSW |
2 |
105,622,622 (GRCm39) |
missense |
possibly damaging |
0.94 |
R0893:Elp4
|
UTSW |
2 |
105,727,290 (GRCm39) |
splice site |
probably benign |
|
R1117:Elp4
|
UTSW |
2 |
105,672,656 (GRCm39) |
missense |
probably benign |
0.00 |
R1496:Elp4
|
UTSW |
2 |
105,662,506 (GRCm39) |
missense |
probably benign |
0.31 |
R1542:Elp4
|
UTSW |
2 |
105,624,954 (GRCm39) |
missense |
probably benign |
0.02 |
R1911:Elp4
|
UTSW |
2 |
105,533,088 (GRCm39) |
missense |
probably damaging |
0.96 |
R2311:Elp4
|
UTSW |
2 |
105,672,677 (GRCm39) |
missense |
probably benign |
0.00 |
R2997:Elp4
|
UTSW |
2 |
105,644,661 (GRCm39) |
missense |
possibly damaging |
0.82 |
R3079:Elp4
|
UTSW |
2 |
105,639,790 (GRCm39) |
missense |
possibly damaging |
0.95 |
R3683:Elp4
|
UTSW |
2 |
105,533,106 (GRCm39) |
missense |
possibly damaging |
0.75 |
R4747:Elp4
|
UTSW |
2 |
105,624,952 (GRCm39) |
missense |
probably damaging |
1.00 |
R4799:Elp4
|
UTSW |
2 |
105,639,612 (GRCm39) |
missense |
probably damaging |
0.99 |
R5438:Elp4
|
UTSW |
2 |
105,734,748 (GRCm39) |
missense |
probably damaging |
1.00 |
R5635:Elp4
|
UTSW |
2 |
105,644,609 (GRCm39) |
critical splice donor site |
probably null |
|
R6414:Elp4
|
UTSW |
2 |
105,734,788 (GRCm39) |
missense |
possibly damaging |
0.94 |
R7228:Elp4
|
UTSW |
2 |
105,622,647 (GRCm39) |
missense |
probably damaging |
1.00 |
R7381:Elp4
|
UTSW |
2 |
105,622,652 (GRCm39) |
missense |
not run |
|
R7560:Elp4
|
UTSW |
2 |
105,624,933 (GRCm39) |
missense |
probably damaging |
1.00 |
R7671:Elp4
|
UTSW |
2 |
105,734,826 (GRCm39) |
missense |
probably damaging |
0.99 |
R8376:Elp4
|
UTSW |
2 |
105,672,653 (GRCm39) |
missense |
probably benign |
0.00 |
R8918:Elp4
|
UTSW |
2 |
105,662,600 (GRCm39) |
missense |
probably benign |
0.27 |
R9170:Elp4
|
UTSW |
2 |
105,624,891 (GRCm39) |
missense |
probably damaging |
0.99 |
R9761:Elp4
|
UTSW |
2 |
105,624,904 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Posted On |
2012-12-06 |