Incidental Mutation 'R5389:Elp2'
ID |
425498 |
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 |
042961-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.960)
|
Stock # |
R5389 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
18 |
Chromosomal Location |
24737018-24771887 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 24739960 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Serine
at position 62
(N62S)
|
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: N62S
PolyPhen 2
Score 0.868 (Sensitivity: 0.83; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000025120 Gene: ENSMUSG00000024271 AA Change: N62S
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 |
0.0731 |
Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.7%
|
Validation Efficiency |
98% (65/66) |
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: 64 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4921524L21Rik |
T |
C |
18: 6,638,795 (GRCm39) |
V398A |
probably benign |
Het |
A430033K04Rik |
T |
A |
5: 138,644,559 (GRCm39) |
V148E |
probably benign |
Het |
Acyp2 |
C |
T |
11: 30,456,354 (GRCm39) |
E98K |
possibly damaging |
Het |
Ankrd26 |
T |
A |
6: 118,485,536 (GRCm39) |
Q1446L |
possibly damaging |
Het |
Anks6 |
A |
T |
4: 47,038,900 (GRCm39) |
|
probably benign |
Het |
Arrb2 |
T |
C |
11: 70,329,484 (GRCm39) |
S265P |
probably damaging |
Het |
Baiap2 |
T |
C |
11: 119,887,496 (GRCm39) |
S264P |
probably damaging |
Het |
Cadps2 |
A |
G |
6: 23,329,103 (GRCm39) |
V938A |
probably damaging |
Het |
Cavin4 |
G |
T |
4: 48,663,907 (GRCm39) |
V96F |
probably damaging |
Het |
Cenpe |
T |
C |
3: 134,965,149 (GRCm39) |
|
probably null |
Het |
Crocc2 |
C |
A |
1: 93,143,363 (GRCm39) |
Q1322K |
probably benign |
Het |
Cryzl2 |
T |
A |
1: 157,289,546 (GRCm39) |
C61* |
probably null |
Het |
Dazl |
T |
C |
17: 50,595,718 (GRCm39) |
I56V |
probably benign |
Het |
Dnah12 |
A |
T |
14: 26,456,904 (GRCm39) |
D890V |
probably damaging |
Het |
Dnah9 |
C |
A |
11: 65,986,140 (GRCm39) |
E1165* |
probably null |
Het |
Dnmt3l |
T |
A |
10: 77,892,665 (GRCm39) |
|
probably null |
Het |
Entr1 |
T |
C |
2: 26,275,559 (GRCm39) |
D244G |
probably damaging |
Het |
Fam216b |
T |
A |
14: 78,322,503 (GRCm39) |
H26L |
possibly damaging |
Het |
Fbxw25 |
T |
A |
9: 109,481,954 (GRCm39) |
Q244L |
possibly damaging |
Het |
G530012D18Rik |
G |
C |
1: 85,504,923 (GRCm39) |
|
probably benign |
Het |
Gvin3 |
T |
C |
7: 106,197,442 (GRCm39) |
|
noncoding transcript |
Het |
Igf2r |
T |
C |
17: 12,944,303 (GRCm39) |
Y400C |
probably damaging |
Het |
Iqcc |
A |
G |
4: 129,512,413 (GRCm39) |
F20L |
probably benign |
Het |
Klhl5 |
T |
A |
5: 65,298,625 (GRCm39) |
L135M |
possibly damaging |
Het |
Klk1b16 |
A |
T |
7: 43,790,412 (GRCm39) |
M196L |
possibly damaging |
Het |
Ltf |
T |
C |
9: 110,858,719 (GRCm39) |
M489T |
possibly damaging |
Het |
Mctp2 |
G |
T |
7: 71,863,835 (GRCm39) |
R343S |
possibly damaging |
Het |
Nbas |
T |
A |
12: 13,584,578 (GRCm39) |
|
probably null |
Het |
Ncr1 |
A |
T |
7: 4,343,932 (GRCm39) |
M177L |
probably benign |
Het |
Net1 |
C |
T |
13: 3,936,170 (GRCm39) |
E305K |
probably damaging |
Het |
Nfx1 |
T |
C |
4: 40,985,000 (GRCm39) |
F375L |
probably damaging |
Het |
Notch3 |
T |
A |
17: 32,358,163 (GRCm39) |
I1687L |
probably benign |
Het |
Obsl1 |
A |
T |
1: 75,479,905 (GRCm39) |
|
probably benign |
Het |
Or2ag16 |
A |
T |
7: 106,352,290 (GRCm39) |
F102I |
probably damaging |
Het |
Or2t46 |
C |
G |
11: 58,471,825 (GRCm39) |
L52V |
possibly damaging |
Het |
Or51v14 |
G |
T |
7: 103,260,797 (GRCm39) |
Y254* |
probably null |
Het |
Or5g23 |
A |
G |
2: 85,438,627 (GRCm39) |
F209S |
probably benign |
Het |
Or5j3 |
G |
A |
2: 86,128,561 (GRCm39) |
V134M |
possibly damaging |
Het |
Or5p79 |
A |
C |
7: 108,221,924 (GRCm39) |
I302L |
probably damaging |
Het |
Orai1 |
A |
T |
5: 123,167,564 (GRCm39) |
M246L |
probably benign |
Het |
Pcdhga12 |
G |
A |
18: 37,899,785 (GRCm39) |
A206T |
probably damaging |
Het |
Plxdc2 |
C |
A |
2: 16,654,998 (GRCm39) |
T199K |
probably damaging |
Het |
Prkd1 |
T |
A |
12: 50,389,920 (GRCm39) |
I819F |
probably damaging |
Het |
Ptpn9 |
T |
C |
9: 56,964,121 (GRCm39) |
|
probably benign |
Het |
Rabl6 |
T |
C |
2: 25,478,666 (GRCm39) |
E255G |
probably damaging |
Het |
Sema3e |
T |
C |
5: 14,286,099 (GRCm39) |
|
probably benign |
Het |
Serpina3c |
T |
C |
12: 104,115,699 (GRCm39) |
M282V |
possibly damaging |
Het |
Slco1a7 |
A |
G |
6: 141,686,193 (GRCm39) |
F216L |
probably benign |
Het |
Slco2b1 |
A |
G |
7: 99,335,132 (GRCm39) |
I216T |
probably damaging |
Het |
Slco6b1 |
T |
C |
1: 96,916,309 (GRCm39) |
|
noncoding transcript |
Het |
Slco6d1 |
A |
T |
1: 98,371,369 (GRCm39) |
I285F |
probably benign |
Het |
Sp110 |
C |
G |
1: 85,516,839 (GRCm39) |
E219D |
probably damaging |
Het |
Sp9 |
C |
A |
2: 73,104,641 (GRCm39) |
N398K |
probably damaging |
Het |
Sycp2 |
A |
C |
2: 178,019,495 (GRCm39) |
|
probably null |
Het |
Tbc1d23 |
T |
C |
16: 57,019,291 (GRCm39) |
D219G |
probably damaging |
Het |
Tdpoz3 |
A |
G |
3: 93,734,179 (GRCm39) |
R285G |
probably benign |
Het |
Trim2 |
T |
A |
3: 84,074,960 (GRCm39) |
Q694L |
probably null |
Het |
Trim23 |
T |
A |
13: 104,328,541 (GRCm39) |
V293D |
probably damaging |
Het |
Ttn |
A |
G |
2: 76,665,183 (GRCm39) |
|
probably benign |
Het |
Vmn2r12 |
T |
A |
5: 109,238,261 (GRCm39) |
Y493F |
probably benign |
Het |
Vps41 |
T |
A |
13: 19,046,708 (GRCm39) |
I753N |
probably damaging |
Het |
Vps51 |
T |
G |
19: 6,121,063 (GRCm39) |
E283D |
probably benign |
Het |
Yme1l1 |
G |
A |
2: 23,083,246 (GRCm39) |
G571R |
probably damaging |
Het |
Zfp322a |
A |
T |
13: 23,541,149 (GRCm39) |
C198S |
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 |
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'- CGTGTATGGTTTGAAATGCAAC -3'
(R):5'- TCCATGCTTCACCTGAGGTC -3'
Sequencing Primer
(F):5'- GCAACTCTATTGATGGAATTCTGCTC -3'
(R):5'- GCTTCACCTGAGGTCATGTAAAAAC -3'
|
Posted On |
2016-08-04 |