Incidental Mutation 'R1658:Elp2'
| ID |
186557 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Elp2
|
| Ensembl Gene |
ENSMUSG00000024271 |
| Gene Name |
elongator acetyltransferase complex subunit 2 |
| Synonyms |
Statip1, Stat3-interacting protein, StIP1 |
| MMRRC Submission |
039694-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.962)
|
| Stock # |
R1658 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
18 |
| Chromosomal Location |
24737018-24771887 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 24750470 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Methionine
at position 269
(T269M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000025120
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025120]
|
| AlphaFold |
Q91WG4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000025120
AA Change: T269M
PolyPhen 2
Score 0.267 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000025120
Gene: ENSMUSG00000024271
AA Change: T269M
| 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 |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.4%
- 20x: 92.8%
|
| 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: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrd1 |
T |
G |
5: 129,255,164 (GRCm39) |
S604A |
probably benign |
Het |
| Apbb1 |
G |
A |
7: 105,223,291 (GRCm39) |
P107S |
probably damaging |
Het |
| Baz2a |
T |
A |
10: 127,960,252 (GRCm39) |
M1489K |
probably benign |
Het |
| Cd84 |
A |
G |
1: 171,700,317 (GRCm39) |
T145A |
possibly damaging |
Het |
| Cdca2 |
A |
G |
14: 67,915,148 (GRCm39) |
S704P |
possibly damaging |
Het |
| Cemip2 |
T |
C |
19: 21,779,243 (GRCm39) |
V351A |
probably damaging |
Het |
| Chfr |
T |
C |
5: 110,301,035 (GRCm39) |
I312T |
probably damaging |
Het |
| Csmd1 |
A |
G |
8: 16,131,739 (GRCm39) |
V1662A |
possibly damaging |
Het |
| Dgkd |
T |
A |
1: 87,853,990 (GRCm39) |
L611Q |
probably damaging |
Het |
| Dicer1 |
A |
G |
12: 104,666,673 (GRCm39) |
V1376A |
probably benign |
Het |
| Ephb6 |
T |
A |
6: 41,591,179 (GRCm39) |
V112E |
probably damaging |
Het |
| Fbxo11 |
A |
T |
17: 88,320,086 (GRCm39) |
Y209N |
probably benign |
Het |
| Frem1 |
C |
T |
4: 82,920,045 (GRCm39) |
R437Q |
probably damaging |
Het |
| G6pc2 |
A |
T |
2: 69,057,413 (GRCm39) |
K353M |
probably damaging |
Het |
| Gabbr1 |
A |
G |
17: 37,358,399 (GRCm39) |
T46A |
probably damaging |
Het |
| Gbp9 |
T |
A |
5: 105,242,334 (GRCm39) |
Q135L |
probably damaging |
Het |
| Gstp1 |
A |
T |
19: 4,087,375 (GRCm39) |
M20K |
probably damaging |
Het |
| Heatr6 |
A |
G |
11: 83,649,193 (GRCm39) |
R183G |
probably damaging |
Het |
| Ints11 |
A |
G |
4: 155,972,185 (GRCm39) |
K397E |
probably damaging |
Het |
| Intu |
A |
G |
3: 40,647,211 (GRCm39) |
T695A |
probably benign |
Het |
| Kif21b |
T |
C |
1: 136,099,023 (GRCm39) |
V1437A |
probably damaging |
Het |
| Klhl24 |
T |
A |
16: 19,925,842 (GRCm39) |
Y123* |
probably null |
Het |
| Lipm |
C |
T |
19: 34,093,847 (GRCm39) |
L255F |
probably benign |
Het |
| Max |
A |
T |
12: 76,985,355 (GRCm39) |
M121K |
probably benign |
Het |
| Mga |
A |
T |
2: 119,772,170 (GRCm39) |
I1677L |
possibly damaging |
Het |
| Msantd1 |
C |
A |
5: 35,078,905 (GRCm39) |
L147M |
probably damaging |
Het |
| Msantd1 |
T |
A |
5: 35,078,906 (GRCm39) |
L147Q |
probably benign |
Het |
| Mylk4 |
T |
C |
13: 32,896,772 (GRCm39) |
D363G |
possibly damaging |
Het |
| Naaa |
T |
C |
5: 92,420,300 (GRCm39) |
|
probably null |
Het |
| Ninl |
A |
G |
2: 150,806,079 (GRCm39) |
Y381H |
probably damaging |
Het |
| Nwd2 |
A |
G |
5: 63,964,589 (GRCm39) |
N1391S |
probably damaging |
Het |
| Or6k8-ps1 |
G |
A |
1: 173,979,789 (GRCm39) |
A236T |
probably damaging |
Het |
| Or8g18 |
C |
T |
9: 39,149,255 (GRCm39) |
C155Y |
probably benign |
Het |
| Phip |
A |
G |
9: 82,753,551 (GRCm39) |
V1731A |
probably benign |
Het |
| Plxnb1 |
T |
A |
9: 108,931,939 (GRCm39) |
C488* |
probably null |
Het |
| Rgs7 |
T |
C |
1: 174,907,120 (GRCm39) |
I374V |
probably benign |
Het |
| Rin2 |
A |
T |
2: 145,718,376 (GRCm39) |
M574L |
probably benign |
Het |
| Rps18 |
A |
T |
17: 34,171,392 (GRCm39) |
D92E |
probably benign |
Het |
| Scrn1 |
T |
A |
6: 54,497,791 (GRCm39) |
I267L |
probably benign |
Het |
| Stard9 |
T |
C |
2: 120,532,023 (GRCm39) |
V67A |
probably benign |
Het |
| Syne1 |
T |
G |
10: 5,317,616 (GRCm39) |
M493L |
probably benign |
Het |
| Tbc1d2 |
G |
A |
4: 46,614,207 (GRCm39) |
R625C |
probably damaging |
Het |
| Tcerg1l |
A |
G |
7: 137,995,909 (GRCm39) |
S200P |
probably damaging |
Het |
| Tet3 |
A |
T |
6: 83,346,039 (GRCm39) |
V1331E |
probably benign |
Het |
| Ticrr |
A |
T |
7: 79,345,297 (GRCm39) |
I1721F |
possibly damaging |
Het |
| Tjp2 |
T |
C |
19: 24,090,311 (GRCm39) |
D577G |
probably damaging |
Het |
| Tmem38b |
A |
G |
4: 53,840,713 (GRCm39) |
M43V |
probably benign |
Het |
| Trabd |
T |
A |
15: 88,970,069 (GRCm39) |
|
probably null |
Het |
| Trpv5 |
C |
A |
6: 41,651,216 (GRCm39) |
D277Y |
probably damaging |
Het |
| Tubb1 |
A |
C |
2: 174,298,416 (GRCm39) |
D67A |
probably damaging |
Het |
| Ubxn7 |
A |
G |
16: 32,200,054 (GRCm39) |
|
probably null |
Het |
| Ugp2 |
G |
A |
11: 21,283,774 (GRCm39) |
P98S |
probably benign |
Het |
| Vmn2r66 |
G |
T |
7: 84,656,955 (GRCm39) |
P150Q |
probably benign |
Het |
| Zbtb11 |
A |
T |
16: 55,794,588 (GRCm39) |
H55L |
possibly 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 |
|
|
IGL03380:Elp2
|
APN |
18 |
24,755,537 (GRCm39) |
missense |
probably benign |
0.05 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CACACTATGGATGGAAGCCAGACTG -3'
(R):5'- GATTACACAGGTCAAGACGCCTCAC -3'
Sequencing Primer
(F):5'- agattaaacccagggcttcac -3'
(R):5'- GTCAAGACGCCTCACTTTTATGAAC -3'
|
| Posted On |
2014-05-09 |
Incidental Mutation