Incidental Mutation 'R5728:Elp2'
ID |
452630 |
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 |
043345-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.960)
|
Stock # |
R5728 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
18 |
Chromosomal Location |
24737018-24771887 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 24750509 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Glycine
at position 282
(E282G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000025120
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025120]
|
AlphaFold |
Q91WG4 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000025120
AA Change: E282G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000025120 Gene: ENSMUSG00000024271 AA Change: E282G
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: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.4%
|
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: 45 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A930018P22Rik |
T |
A |
2: 103,953,213 (GRCm39) |
M13K |
possibly damaging |
Het |
Abca13 |
T |
A |
11: 9,520,576 (GRCm39) |
V4493D |
probably damaging |
Het |
Ank1 |
A |
G |
8: 23,612,783 (GRCm39) |
|
probably null |
Het |
B4galnt4 |
A |
G |
7: 140,650,488 (GRCm39) |
D785G |
probably benign |
Het |
Chtop |
C |
T |
3: 90,407,399 (GRCm39) |
G187D |
probably damaging |
Het |
Cnih1 |
A |
G |
14: 47,017,648 (GRCm39) |
F78S |
probably damaging |
Het |
Cybb |
C |
G |
X: 9,316,989 (GRCm39) |
D246H |
probably benign |
Het |
Dcun1d4 |
T |
C |
5: 73,677,491 (GRCm39) |
F57L |
possibly damaging |
Het |
Dgkz |
A |
G |
2: 91,776,132 (GRCm39) |
S44P |
possibly damaging |
Het |
Dhps |
A |
G |
8: 85,799,964 (GRCm39) |
D138G |
probably damaging |
Het |
Exoc6b |
T |
C |
6: 84,837,173 (GRCm39) |
Y342C |
probably damaging |
Het |
Fasn |
A |
C |
11: 120,704,339 (GRCm39) |
S1386A |
probably benign |
Het |
Foxj3 |
A |
T |
4: 119,430,959 (GRCm39) |
N111Y |
probably damaging |
Het |
Gm5431 |
T |
C |
11: 48,779,440 (GRCm39) |
E772G |
probably damaging |
Het |
Gpbar1 |
A |
G |
1: 74,318,216 (GRCm39) |
N153S |
probably damaging |
Het |
Hspg2 |
T |
C |
4: 137,270,077 (GRCm39) |
I2345T |
possibly damaging |
Het |
Igkv6-29 |
C |
A |
6: 70,115,584 (GRCm39) |
G70V |
possibly damaging |
Het |
Lce1f |
A |
G |
3: 92,626,652 (GRCm39) |
S2P |
unknown |
Het |
Lrrk2 |
A |
G |
15: 91,659,177 (GRCm39) |
D1863G |
probably benign |
Het |
Lurap1 |
T |
C |
4: 116,001,585 (GRCm39) |
E36G |
possibly damaging |
Het |
Lysmd3 |
A |
G |
13: 81,817,380 (GRCm39) |
E119G |
probably damaging |
Het |
Map9 |
G |
A |
3: 82,270,642 (GRCm39) |
V69I |
probably benign |
Het |
Mfsd4b2 |
A |
C |
10: 39,799,791 (GRCm39) |
F37C |
possibly damaging |
Het |
Moxd1 |
A |
T |
10: 24,099,581 (GRCm39) |
H27L |
possibly damaging |
Het |
Myo15a |
A |
T |
11: 60,379,722 (GRCm39) |
K1476N |
probably damaging |
Het |
Mzf1 |
A |
G |
7: 12,777,985 (GRCm39) |
I552T |
probably benign |
Het |
Nfatc2 |
A |
G |
2: 168,322,169 (GRCm39) |
V910A |
probably benign |
Het |
Or52n2 |
C |
T |
7: 104,542,436 (GRCm39) |
R133Q |
possibly damaging |
Het |
Prss2 |
T |
C |
6: 41,500,851 (GRCm39) |
V88A |
probably benign |
Het |
Rhbdf1 |
A |
G |
11: 32,159,901 (GRCm39) |
|
probably null |
Het |
Slc10a4 |
A |
T |
5: 73,169,677 (GRCm39) |
Q434L |
probably damaging |
Het |
Slc4a3 |
A |
G |
1: 75,526,484 (GRCm39) |
T2A |
probably benign |
Het |
Sqor |
A |
G |
2: 122,651,320 (GRCm39) |
*194W |
probably null |
Het |
Stx16 |
G |
A |
2: 173,935,292 (GRCm39) |
G156R |
probably damaging |
Het |
Tagap1 |
A |
G |
17: 7,224,420 (GRCm39) |
V92A |
probably benign |
Het |
Tiam2 |
A |
G |
17: 3,465,231 (GRCm39) |
Y320C |
probably damaging |
Het |
Toporsl |
T |
C |
4: 52,611,469 (GRCm39) |
I454T |
probably benign |
Het |
Ttc23l |
G |
T |
15: 10,551,636 (GRCm39) |
T30K |
possibly damaging |
Het |
Ubap1l |
T |
C |
9: 65,276,570 (GRCm39) |
V24A |
probably benign |
Het |
Unc13c |
A |
T |
9: 73,466,238 (GRCm39) |
S1810T |
probably benign |
Het |
Vmn1r56 |
A |
T |
7: 5,199,122 (GRCm39) |
I165K |
probably benign |
Het |
Wnt8b |
A |
G |
19: 44,499,757 (GRCm39) |
T169A |
possibly damaging |
Het |
Wrap73 |
T |
C |
4: 154,239,099 (GRCm39) |
|
probably null |
Het |
Wwc2 |
A |
G |
8: 48,317,096 (GRCm39) |
I703T |
unknown |
Het |
Zfp354a |
T |
A |
11: 50,961,432 (GRCm39) |
C546S |
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 |
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'- TCTCTAGTGGGAGAGGTTAATGAAG -3'
(R):5'- ATGGCAGTGTTAGCACCTTG -3'
Sequencing Primer
(F):5'- AGAGGTTAATGAAGTATGGGGTTG -3'
(R):5'- CACCTTGCAGCAGCCGG -3'
|
Posted On |
2017-01-03 |