Incidental Mutation 'R2997:Elp4'
| ID |
257194 |
| Institutional Source |
Beutler Lab
|
| 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 # |
R2997 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
105531372-105734909 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 105644661 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 228
(F228L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000116575
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028588]
[ENSMUST00000122965]
|
| AlphaFold |
Q9ER73 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000028588
AA Change: F110L
PolyPhen 2
Score 0.817 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000028588
Gene: ENSMUSG00000027167
AA Change: F110L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PAXNEB
|
2 |
270 |
9.1e-69 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000122965
AA Change: F228L
PolyPhen 2
Score 0.817 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000116575
Gene: ENSMUSG00000027167
AA Change: F228L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PAXNEB
|
28 |
422 |
4e-123 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152272
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.4%
|
| 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: 16 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrl2 |
A |
T |
3: 148,523,285 (GRCm39) |
V82E |
probably damaging |
Het |
| Ahcyl |
G |
A |
16: 45,974,288 (GRCm39) |
T363I |
possibly damaging |
Het |
| Arid5b |
C |
T |
10: 67,934,292 (GRCm39) |
G294S |
probably benign |
Het |
| Arl6 |
A |
T |
16: 59,444,239 (GRCm39) |
|
probably null |
Het |
| Arsi |
G |
A |
18: 61,049,723 (GRCm39) |
G202E |
probably benign |
Het |
| Fndc3b |
A |
C |
3: 27,523,021 (GRCm39) |
D519E |
probably benign |
Het |
| Gbp9 |
T |
A |
5: 105,230,635 (GRCm39) |
I430F |
probably benign |
Het |
| Lgr4 |
A |
T |
2: 109,833,862 (GRCm39) |
E369D |
probably benign |
Het |
| Lrguk |
T |
A |
6: 34,050,697 (GRCm39) |
V385D |
probably damaging |
Het |
| Mier1 |
T |
A |
4: 102,988,233 (GRCm39) |
D52E |
probably damaging |
Het |
| Mthfd1 |
G |
T |
12: 76,361,810 (GRCm39) |
V139F |
probably benign |
Het |
| Myg1 |
G |
T |
15: 102,245,945 (GRCm39) |
R315L |
probably null |
Het |
| Pcare |
ACTGCTGCTGCTGCTGCTGCTGC |
ACTGCTGCTGCTGCTGCTGC |
17: 72,051,706 (GRCm39) |
|
probably benign |
Het |
| Tchh |
CACGCGAGGAACGCGAGGAAC |
CACGCGAGGAAC |
3: 93,355,057 (GRCm39) |
|
probably benign |
Het |
| Ttn |
A |
G |
2: 76,716,350 (GRCm39) |
|
probably benign |
Het |
| Tyw5 |
T |
C |
1: 57,427,800 (GRCm39) |
D268G |
probably damaging |
Het |
|
| Other mutations in Elp4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00648:Elp4
|
APN |
2 |
105,672,711 (GRCm39) |
splice site |
probably benign |
|
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTTTGTGTGCATCCTGAGAATC -3'
(R):5'- GTCAGAAACTAAGTAACTGACCCTC -3'
Sequencing Primer
(F):5'- GTGCATCCTGAGAATCTAGTAAAAAC -3'
(R):5'- CATACTGACTTCATGTTTGAA -3'
|
| Posted On |
2015-01-11 |
Incidental Mutation