Incidental Mutation 'IGL03380:Elp2'
| ID |
420641 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Elp2
|
| Ensembl Gene |
ENSMUSG00000024271 |
| Gene Name |
elongator acetyltransferase complex subunit 2 |
| Synonyms |
Statip1, Stat3-interacting protein, StIP1 |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.960)
|
| Stock # |
IGL03380
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
18 |
| Chromosomal Location |
24737018-24771887 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 24755537 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 428
(V428A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000025120
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025120]
|
| AlphaFold |
Q91WG4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000025120
AA Change: V428A
PolyPhen 2
Score 0.050 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000025120
Gene: ENSMUSG00000024271
AA Change: V428A
| Domain | Start | End | E-Value | Type |
|---|
|
WD40
|
47 |
91 |
1.06e-3 |
SMART |
|
WD40
|
94 |
143 |
2.24e-2 |
SMART |
|
WD40
|
196 |
237 |
4.69e-5 |
SMART |
|
WD40
|
271 |
319 |
2.44e-3 |
SMART |
|
Blast:WD40
|
329 |
368 |
1e-20 |
BLAST |
|
WD40
|
376 |
415 |
2.12e-3 |
SMART |
|
WD40
|
429 |
467 |
1.71e1 |
SMART |
|
WD40
|
556 |
600 |
7.43e-1 |
SMART |
|
WD40
|
603 |
642 |
1.93e-6 |
SMART |
|
WD40
|
661 |
697 |
1.55e-5 |
SMART |
|
Blast:WD40
|
709 |
753 |
7e-21 |
BLAST |
|
WD40
|
766 |
825 |
1.92e0 |
SMART |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a core subunit of the elongator complex, a histone acetyltransferase complex that associates with RNA polymerase II. In addition to histone acetylation, the encoded protein effects transcriptional elongation and may help remodel chromatin. [provided by RefSeq, May 2016]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
A |
G |
11: 9,248,574 (GRCm39) |
N2774D |
probably benign |
Het |
| Aldh1a2 |
T |
G |
9: 71,162,399 (GRCm39) |
Y149* |
probably null |
Het |
| Ank2 |
C |
A |
3: 126,749,519 (GRCm39) |
E503D |
probably damaging |
Het |
| Arhgap23 |
A |
G |
11: 97,343,344 (GRCm39) |
D542G |
probably damaging |
Het |
| Atp8a1 |
T |
C |
5: 67,889,529 (GRCm39) |
E582G |
probably benign |
Het |
| C4b |
A |
T |
17: 34,959,260 (GRCm39) |
V438D |
probably benign |
Het |
| Caps2 |
A |
G |
10: 112,036,601 (GRCm39) |
E345G |
probably benign |
Het |
| Cdk19 |
C |
T |
10: 40,352,908 (GRCm39) |
P308L |
probably benign |
Het |
| Drc3 |
A |
G |
11: 60,268,731 (GRCm39) |
E307G |
probably benign |
Het |
| Dst |
G |
A |
1: 34,296,881 (GRCm39) |
A1041T |
probably damaging |
Het |
| Eml5 |
G |
T |
12: 98,840,906 (GRCm39) |
|
probably benign |
Het |
| Fam120b |
G |
A |
17: 15,623,396 (GRCm39) |
|
probably benign |
Het |
| Fpr-rs6 |
G |
A |
17: 20,403,245 (GRCm39) |
L39F |
possibly damaging |
Het |
| Fsd1 |
T |
C |
17: 56,302,456 (GRCm39) |
I300T |
probably benign |
Het |
| Hsd17b6 |
T |
C |
10: 127,830,207 (GRCm39) |
|
probably null |
Het |
| Hspa1a |
T |
C |
17: 35,189,253 (GRCm39) |
K550R |
probably benign |
Het |
| Krba1 |
A |
G |
6: 48,380,387 (GRCm39) |
H37R |
possibly damaging |
Het |
| Lama2 |
T |
C |
10: 26,926,261 (GRCm39) |
D2117G |
probably damaging |
Het |
| Map4k2 |
T |
C |
19: 6,394,620 (GRCm39) |
F332S |
possibly damaging |
Het |
| Mindy1 |
T |
C |
3: 95,198,329 (GRCm39) |
|
probably benign |
Het |
| Nhsl1 |
T |
G |
10: 18,399,627 (GRCm39) |
Y284* |
probably null |
Het |
| Or5b109 |
T |
A |
19: 13,212,365 (GRCm39) |
F250L |
probably benign |
Het |
| Pkhd1 |
T |
A |
1: 20,270,894 (GRCm39) |
T3220S |
probably damaging |
Het |
| Pramel7 |
A |
T |
2: 87,321,716 (GRCm39) |
D106E |
probably benign |
Het |
| Psme3 |
T |
C |
11: 101,210,852 (GRCm39) |
|
probably null |
Het |
| Rsph1 |
T |
C |
17: 31,496,210 (GRCm39) |
E7G |
unknown |
Het |
| Slc13a2 |
T |
C |
11: 78,289,908 (GRCm39) |
T469A |
probably benign |
Het |
| Slc30a9 |
C |
T |
5: 67,473,054 (GRCm39) |
T46I |
probably benign |
Het |
| Slc37a4 |
T |
G |
9: 44,311,320 (GRCm39) |
S204A |
probably benign |
Het |
| Slc8b1 |
T |
C |
5: 120,657,800 (GRCm39) |
F88L |
probably damaging |
Het |
| Smpd3 |
C |
T |
8: 106,986,291 (GRCm39) |
V504I |
probably benign |
Het |
| Tbx4 |
A |
G |
11: 85,805,465 (GRCm39) |
N418S |
probably benign |
Het |
| Tmem132c |
A |
G |
5: 127,613,506 (GRCm39) |
T470A |
probably benign |
Het |
| Tmem207 |
A |
T |
16: 26,345,407 (GRCm39) |
C20S |
probably damaging |
Het |
| Usp43 |
G |
A |
11: 67,766,142 (GRCm39) |
A761V |
possibly damaging |
Het |
| Vmn1r191 |
C |
T |
13: 22,363,055 (GRCm39) |
S233N |
probably damaging |
Het |
| Vmn2r58 |
T |
A |
7: 41,513,874 (GRCm39) |
E256D |
probably benign |
Het |
| Zc3hav1 |
T |
C |
6: 38,313,493 (GRCm39) |
Y184C |
probably damaging |
Het |
|
| Other mutations in Elp2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01800:Elp2
|
APN |
18 |
24,750,548 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL01909:Elp2
|
APN |
18 |
24,752,576 (GRCm39) |
splice site |
probably benign |
|
|
IGL01974:Elp2
|
APN |
18 |
24,759,260 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02243:Elp2
|
APN |
18 |
24,755,663 (GRCm39) |
missense |
probably benign |
0.11 |
|
IGL03049:Elp2
|
APN |
18 |
24,764,516 (GRCm39) |
missense |
probably benign |
0.05 |
|
IGL03236:Elp2
|
APN |
18 |
24,755,300 (GRCm39) |
splice site |
probably benign |
|
|
Camelid
|
UTSW |
18 |
24,758,606 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT4283001:Elp2
|
UTSW |
18 |
24,755,187 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT4531001:Elp2
|
UTSW |
18 |
24,737,170 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0119:Elp2
|
UTSW |
18 |
24,767,466 (GRCm39) |
missense |
probably benign |
0.03 |
|
R0244:Elp2
|
UTSW |
18 |
24,764,528 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R0299:Elp2
|
UTSW |
18 |
24,767,466 (GRCm39) |
missense |
probably benign |
0.03 |
|
R0609:Elp2
|
UTSW |
18 |
24,759,213 (GRCm39) |
missense |
probably benign |
|
|
R0671:Elp2
|
UTSW |
18 |
24,745,499 (GRCm39) |
splice site |
probably benign |
|
|
R1531:Elp2
|
UTSW |
18 |
24,764,461 (GRCm39) |
missense |
probably benign |
0.06 |
|
R1658:Elp2
|
UTSW |
18 |
24,750,470 (GRCm39) |
missense |
probably benign |
0.27 |
|
R1673:Elp2
|
UTSW |
18 |
24,744,983 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R2012:Elp2
|
UTSW |
18 |
24,764,515 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3861:Elp2
|
UTSW |
18 |
24,739,977 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4038:Elp2
|
UTSW |
18 |
24,767,405 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4396:Elp2
|
UTSW |
18 |
24,742,707 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4507:Elp2
|
UTSW |
18 |
24,759,177 (GRCm39) |
splice site |
probably null |
|
|
R4901:Elp2
|
UTSW |
18 |
24,752,542 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5389:Elp2
|
UTSW |
18 |
24,739,960 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R5511:Elp2
|
UTSW |
18 |
24,745,507 (GRCm39) |
nonsense |
probably null |
|
|
R5633:Elp2
|
UTSW |
18 |
24,748,267 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5728:Elp2
|
UTSW |
18 |
24,750,509 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6585:Elp2
|
UTSW |
18 |
24,758,606 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6855:Elp2
|
UTSW |
18 |
24,739,934 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R6877:Elp2
|
UTSW |
18 |
24,768,033 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7145:Elp2
|
UTSW |
18 |
24,737,126 (GRCm39) |
missense |
probably benign |
0.42 |
|
R7163:Elp2
|
UTSW |
18 |
24,747,503 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7313:Elp2
|
UTSW |
18 |
24,742,716 (GRCm39) |
missense |
probably benign |
0.05 |
|
R7318:Elp2
|
UTSW |
18 |
24,739,956 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7403:Elp2
|
UTSW |
18 |
24,752,542 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7497:Elp2
|
UTSW |
18 |
24,744,985 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R8017:Elp2
|
UTSW |
18 |
24,739,920 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R8019:Elp2
|
UTSW |
18 |
24,739,920 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R9069:Elp2
|
UTSW |
18 |
24,765,833 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9402:Elp2
|
UTSW |
18 |
24,759,220 (GRCm39) |
missense |
probably benign |
|
|
R9427:Elp2
|
UTSW |
18 |
24,755,560 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9461:Elp2
|
UTSW |
18 |
24,765,869 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9719:Elp2
|
UTSW |
18 |
24,755,539 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
| Posted On |
2016-08-02 |
Incidental Mutation