Incidental Mutation 'R6855:Elp2'
ID |
535225 |
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 |
045024-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.962)
|
Stock # |
R6855 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
18 |
Chromosomal Location |
24737018-24771887 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 24739934 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Lysine
at position 53
(N53K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000025120
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025120]
[ENSMUST00000070726]
[ENSMUST00000152504]
[ENSMUST00000154205]
|
AlphaFold |
Q91WG4 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000025120
AA Change: N53K
PolyPhen 2
Score 0.479 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000025120 Gene: ENSMUSG00000024271 AA Change: N53K
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 |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000070726
|
SMART Domains |
Protein: ENSMUSP00000064667 Gene: ENSMUSG00000024270
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
low complexity region
|
94 |
141 |
N/A |
INTRINSIC |
low complexity region
|
187 |
198 |
N/A |
INTRINSIC |
Pfam:Zip
|
332 |
753 |
3e-104 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000152504
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000154205
|
SMART Domains |
Protein: ENSMUSP00000122151 Gene: ENSMUSG00000024270
Domain | Start | End | E-Value | Type |
Pfam:Zip
|
48 |
433 |
2e-94 |
PFAM |
|
Meta Mutation Damage Score |
0.1795 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.4%
|
Validation Efficiency |
100% (57/57) |
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: 59 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aass |
G |
A |
6: 23,114,844 (GRCm39) |
S228F |
probably damaging |
Het |
Cdh23 |
A |
T |
10: 60,141,901 (GRCm39) |
M3062K |
possibly damaging |
Het |
Cdh8 |
G |
C |
8: 99,916,849 (GRCm39) |
S422C |
probably damaging |
Het |
Col15a1 |
G |
T |
4: 47,245,544 (GRCm39) |
K98N |
probably damaging |
Het |
Cyp3a57 |
T |
A |
5: 145,309,376 (GRCm39) |
L238H |
probably damaging |
Het |
Dchs2 |
G |
A |
3: 83,255,501 (GRCm39) |
R2399H |
probably benign |
Het |
Dennd4c |
A |
C |
4: 86,754,694 (GRCm39) |
H1568P |
probably benign |
Het |
Dkk2 |
T |
G |
3: 131,883,683 (GRCm39) |
C194W |
probably damaging |
Het |
Dnm2 |
C |
T |
9: 21,387,881 (GRCm39) |
R369C |
probably damaging |
Het |
Efcab7 |
T |
G |
4: 99,757,777 (GRCm39) |
L308* |
probably null |
Het |
Eml6 |
T |
C |
11: 29,701,381 (GRCm39) |
|
probably null |
Het |
Erich3 |
G |
T |
3: 154,468,286 (GRCm39) |
E913* |
probably null |
Het |
Fam186a |
T |
A |
15: 99,852,756 (GRCm39) |
Y154F |
unknown |
Het |
Fhl3 |
G |
A |
4: 124,601,315 (GRCm39) |
D113N |
probably benign |
Het |
Fryl |
A |
T |
5: 73,216,843 (GRCm39) |
M2149K |
probably damaging |
Het |
Gbf1 |
T |
C |
19: 46,268,380 (GRCm39) |
Y1251H |
probably benign |
Het |
Ghitm |
C |
A |
14: 36,847,859 (GRCm39) |
G262W |
probably null |
Het |
Gm14325 |
T |
A |
2: 177,474,635 (GRCm39) |
H148L |
probably damaging |
Het |
Grxcr1 |
C |
A |
5: 68,189,437 (GRCm39) |
N69K |
possibly damaging |
Het |
Itprid2 |
C |
T |
2: 79,488,049 (GRCm39) |
R711C |
probably damaging |
Het |
Kcnma1 |
A |
G |
14: 23,417,679 (GRCm39) |
I846T |
probably damaging |
Het |
Lama1 |
A |
G |
17: 68,089,150 (GRCm39) |
Y1607C |
possibly damaging |
Het |
Lrp1b |
G |
C |
2: 40,518,708 (GRCm39) |
H175D |
possibly damaging |
Het |
Lrrc2 |
T |
A |
9: 110,782,250 (GRCm39) |
|
probably null |
Het |
Mpp3 |
A |
G |
11: 101,904,151 (GRCm39) |
F291L |
probably benign |
Het |
Nek7 |
C |
T |
1: 138,443,420 (GRCm39) |
G178R |
probably damaging |
Het |
Nfil3 |
T |
A |
13: 53,122,641 (GRCm39) |
K88* |
probably null |
Het |
Nit1 |
A |
C |
1: 171,171,130 (GRCm39) |
V194G |
probably damaging |
Het |
Nup210 |
T |
C |
6: 91,017,835 (GRCm39) |
M1052V |
probably benign |
Het |
Nup210l |
A |
G |
3: 90,044,231 (GRCm39) |
T511A |
probably benign |
Het |
Nwd2 |
G |
T |
5: 63,961,794 (GRCm39) |
M459I |
probably benign |
Het |
Or8k31-ps1 |
T |
C |
2: 86,356,513 (GRCm39) |
N3D |
probably benign |
Het |
Peg3 |
A |
C |
7: 6,711,797 (GRCm39) |
S1142A |
probably benign |
Het |
Phf3 |
T |
A |
1: 30,859,204 (GRCm39) |
K959N |
probably damaging |
Het |
Piezo2 |
C |
T |
18: 63,223,950 (GRCm39) |
|
probably null |
Het |
Pigz |
A |
G |
16: 31,764,036 (GRCm39) |
I365V |
possibly damaging |
Het |
Plec |
T |
A |
15: 76,070,818 (GRCm39) |
Q860L |
probably damaging |
Het |
Poglut2 |
C |
A |
1: 44,149,987 (GRCm39) |
E401* |
probably null |
Het |
Ppp5c |
T |
G |
7: 16,740,891 (GRCm39) |
D359A |
possibly damaging |
Het |
Pvr |
C |
T |
7: 19,643,139 (GRCm39) |
A365T |
possibly damaging |
Het |
Pygm |
G |
T |
19: 6,443,787 (GRCm39) |
G583C |
probably damaging |
Het |
Rasa3 |
A |
T |
8: 13,635,029 (GRCm39) |
L430Q |
probably damaging |
Het |
Rims2 |
T |
G |
15: 39,208,911 (GRCm39) |
V198G |
probably benign |
Het |
Rnf38 |
C |
T |
4: 44,149,224 (GRCm39) |
R41H |
probably damaging |
Het |
Rptn |
G |
A |
3: 93,305,558 (GRCm39) |
V964I |
probably benign |
Het |
Rrp1b |
A |
G |
17: 32,271,719 (GRCm39) |
D263G |
probably benign |
Het |
Sgip1 |
T |
C |
4: 102,819,573 (GRCm39) |
C560R |
probably damaging |
Het |
Shisal2b |
T |
C |
13: 105,000,214 (GRCm39) |
Q3R |
probably benign |
Het |
Sidt1 |
A |
C |
16: 44,065,706 (GRCm39) |
I734S |
probably null |
Het |
Ssh1 |
G |
T |
5: 114,080,636 (GRCm39) |
D931E |
probably damaging |
Het |
Thumpd2 |
C |
A |
17: 81,351,599 (GRCm39) |
R274I |
probably damaging |
Het |
Tpi1 |
T |
C |
6: 124,789,426 (GRCm39) |
D183G |
probably damaging |
Het |
Trnt1 |
T |
A |
6: 106,754,883 (GRCm39) |
Y205N |
probably damaging |
Het |
Tsc22d2 |
G |
A |
3: 58,324,235 (GRCm39) |
V376M |
probably damaging |
Het |
Usp34 |
T |
C |
11: 23,402,569 (GRCm39) |
V2454A |
possibly damaging |
Het |
Uspl1 |
C |
A |
5: 149,124,655 (GRCm39) |
S24Y |
probably damaging |
Het |
Vmn1r58 |
A |
C |
7: 5,413,451 (GRCm39) |
W260G |
possibly damaging |
Het |
Vmn2r62 |
T |
A |
7: 42,438,412 (GRCm39) |
L141F |
probably benign |
Het |
Zfp868 |
A |
C |
8: 70,064,230 (GRCm39) |
H368Q |
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 |
|
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 |
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 |
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'- AGTGAATGGGTGGCCTAAGC -3'
(R):5'- ACTAGTCAGCCATTTCACTGG -3'
Sequencing Primer
(F):5'- CCTAAGCTACAGTTAGACGTGTATGG -3'
(R):5'- AGTCAGCCATTTCACTGGGTACAC -3'
|
Posted On |
2018-09-12 |