Incidental Mutation 'R1117:Elp4'
ID |
97390 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Elp4
|
Ensembl Gene |
ENSMUSG00000027167 |
Gene Name |
elongator acetyltransferase complex subunit 4 |
Synonyms |
A330107A17Rik, Paxneb |
MMRRC Submission |
039190-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.963)
|
Stock # |
R1117 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
2 |
Chromosomal Location |
105531372-105734909 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 105672656 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 143
(D143G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000116575
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028588]
[ENSMUST00000122965]
|
AlphaFold |
Q9ER73 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000028588
AA Change: D25G
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
SMART Domains |
Protein: ENSMUSP00000028588 Gene: ENSMUSG00000027167 AA Change: D25G
Domain | Start | End | E-Value | Type |
Pfam:PAXNEB
|
2 |
270 |
9.1e-69 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000122965
AA Change: D143G
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
SMART Domains |
Protein: ENSMUSP00000116575 Gene: ENSMUSG00000027167 AA Change: D143G
Domain | Start | End | E-Value | Type |
Pfam:PAXNEB
|
28 |
422 |
4e-123 |
PFAM |
|
Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.1%
- 10x: 95.6%
- 20x: 90.1%
|
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: 30 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aldh1l2 |
G |
A |
10: 83,344,487 (GRCm39) |
T353I |
probably benign |
Het |
Arpc1b |
T |
C |
5: 145,062,564 (GRCm39) |
V226A |
possibly damaging |
Het |
Casz1 |
C |
A |
4: 149,019,052 (GRCm39) |
T451K |
probably damaging |
Het |
Ccr4 |
C |
T |
9: 114,321,085 (GRCm39) |
V327M |
probably benign |
Het |
Cntrl |
A |
G |
2: 35,017,985 (GRCm39) |
E465G |
probably damaging |
Het |
Cpa1 |
A |
G |
6: 30,645,260 (GRCm39) |
D412G |
probably benign |
Het |
Crispld1 |
T |
A |
1: 17,819,846 (GRCm39) |
N281K |
probably benign |
Het |
Cul3 |
T |
C |
1: 80,258,641 (GRCm39) |
Q465R |
probably damaging |
Het |
Cyp2c68 |
G |
A |
19: 39,700,903 (GRCm39) |
T305M |
probably damaging |
Het |
Etnppl |
A |
G |
3: 130,428,212 (GRCm39) |
I462M |
probably benign |
Het |
Fmo4 |
A |
G |
1: 162,631,232 (GRCm39) |
V245A |
probably benign |
Het |
Gm4076 |
A |
G |
13: 85,275,437 (GRCm39) |
|
noncoding transcript |
Het |
Gtf3c3 |
C |
T |
1: 54,456,937 (GRCm39) |
A488T |
probably damaging |
Het |
Kcnj15 |
G |
A |
16: 95,096,484 (GRCm39) |
M8I |
probably benign |
Het |
Klk1b22 |
A |
T |
7: 43,766,283 (GRCm39) |
M255L |
probably benign |
Het |
Mmrn1 |
T |
A |
6: 60,953,309 (GRCm39) |
I530K |
possibly damaging |
Het |
Muc21 |
T |
C |
17: 35,930,920 (GRCm39) |
|
probably benign |
Het |
Nid2 |
A |
C |
14: 19,813,732 (GRCm39) |
|
probably null |
Het |
Or10g6 |
T |
C |
9: 39,934,058 (GRCm39) |
F123S |
probably damaging |
Het |
Or10h28 |
C |
T |
17: 33,487,940 (GRCm39) |
R81* |
probably null |
Het |
Or9e1 |
A |
G |
11: 58,732,641 (GRCm39) |
K234E |
possibly damaging |
Het |
Peak1 |
G |
A |
9: 56,165,702 (GRCm39) |
T742M |
probably benign |
Het |
Sel1l3 |
T |
A |
5: 53,329,949 (GRCm39) |
T469S |
probably benign |
Het |
Sez6 |
A |
G |
11: 77,865,340 (GRCm39) |
Y659C |
probably damaging |
Het |
Slc19a2 |
A |
T |
1: 164,091,025 (GRCm39) |
I278F |
possibly damaging |
Het |
Slc36a3 |
T |
C |
11: 55,037,006 (GRCm39) |
I100V |
possibly damaging |
Het |
Tcerg1 |
A |
G |
18: 42,707,717 (GRCm39) |
D1079G |
probably damaging |
Het |
Trim43c |
T |
C |
9: 88,727,030 (GRCm39) |
S286P |
probably benign |
Het |
Umod |
T |
C |
7: 119,076,529 (GRCm39) |
N79S |
possibly damaging |
Het |
Wdr43 |
A |
G |
17: 71,923,382 (GRCm39) |
T43A |
probably benign |
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 |
|
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 |
|
Predicted Primers |
|
Posted On |
2014-01-05 |