Incidental Mutation 'R4507:Elp2'
| ID |
332077 |
| 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 |
041756-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.960)
|
| Stock # |
R4507 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
18 |
| Chromosomal Location |
24737018-24771887 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
A to G
at 24759177 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000025120
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025120]
[ENSMUST00000025120]
|
| AlphaFold |
Q91WG4 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000025120
|
| SMART Domains |
Protein: ENSMUSP00000025120
Gene: ENSMUSG00000024271
| 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 null
Transcript: ENSMUST00000025120
|
| SMART Domains |
Protein: ENSMUSP00000025120
Gene: ENSMUSG00000024271
| 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 |
|
| Meta Mutation Damage Score |
0.9755 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.6%
|
| Validation Efficiency |
100% (41/41) |
| 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 |
|---|
| 4933402N03Rik |
T |
C |
7: 130,747,601 (GRCm39) |
Y83C |
probably damaging |
Het |
| Abca8a |
A |
T |
11: 109,953,851 (GRCm39) |
I863N |
probably benign |
Het |
| Abr |
A |
G |
11: 76,342,683 (GRCm39) |
I608T |
possibly damaging |
Het |
| Aebp1 |
A |
G |
11: 5,820,565 (GRCm39) |
Y485C |
probably damaging |
Het |
| Akap5 |
A |
G |
12: 76,374,681 (GRCm39) |
K38E |
possibly damaging |
Het |
| Bhlhe22 |
T |
C |
3: 18,109,123 (GRCm39) |
S58P |
probably benign |
Het |
| Bmp3 |
A |
T |
5: 99,027,633 (GRCm39) |
I418L |
probably damaging |
Het |
| Carmil3 |
GGACGA |
GGA |
14: 55,736,933 (GRCm39) |
|
probably benign |
Het |
| Catsperb |
T |
A |
12: 101,447,087 (GRCm39) |
|
probably null |
Het |
| Clasrp |
C |
A |
7: 19,319,165 (GRCm39) |
|
probably benign |
Het |
| Clic1 |
A |
G |
17: 35,271,761 (GRCm39) |
T52A |
probably benign |
Het |
| Dnah7c |
C |
T |
1: 46,805,771 (GRCm39) |
R3407C |
probably damaging |
Het |
| Epha10 |
A |
G |
4: 124,809,480 (GRCm39) |
|
probably benign |
Het |
| Fbh1 |
A |
G |
2: 11,753,828 (GRCm39) |
V838A |
possibly damaging |
Het |
| Folh1 |
T |
C |
7: 86,406,216 (GRCm39) |
T286A |
probably benign |
Het |
| H2-T5 |
A |
T |
17: 36,472,372 (GRCm39) |
|
probably benign |
Het |
| Hcn2 |
T |
A |
10: 79,560,620 (GRCm39) |
I317N |
probably damaging |
Het |
| Hectd1 |
A |
T |
12: 51,837,276 (GRCm39) |
L760I |
probably damaging |
Het |
| Hoxc10 |
A |
T |
15: 102,875,387 (GRCm39) |
Y32F |
probably damaging |
Het |
| Krtcap2 |
A |
G |
3: 89,153,563 (GRCm39) |
|
probably benign |
Het |
| Lhx5 |
C |
A |
5: 120,578,073 (GRCm39) |
H298N |
possibly damaging |
Het |
| Mdh1 |
C |
T |
11: 21,508,470 (GRCm39) |
V291M |
probably benign |
Het |
| Myh14 |
T |
C |
7: 44,279,415 (GRCm39) |
T963A |
probably benign |
Het |
| Mylk |
T |
C |
16: 34,774,065 (GRCm39) |
F1305L |
probably benign |
Het |
| Or4c10 |
C |
T |
2: 89,760,695 (GRCm39) |
P181S |
possibly damaging |
Het |
| Or8b9 |
T |
C |
9: 37,766,201 (GRCm39) |
F29S |
possibly damaging |
Het |
| Parp11 |
A |
G |
6: 127,451,246 (GRCm39) |
R99G |
probably damaging |
Het |
| Phactr1 |
C |
A |
13: 43,250,270 (GRCm39) |
T522N |
probably damaging |
Het |
| Ptprs |
T |
C |
17: 56,726,014 (GRCm39) |
T1423A |
probably damaging |
Het |
| Ralgapa2 |
T |
C |
2: 146,195,168 (GRCm39) |
I1253V |
probably benign |
Het |
| Ric8a |
A |
G |
7: 140,438,429 (GRCm39) |
I223V |
probably benign |
Het |
| Samd4b |
A |
G |
7: 28,106,925 (GRCm39) |
M329T |
probably benign |
Het |
| Srrm4 |
T |
C |
5: 116,584,612 (GRCm39) |
Y486C |
probably damaging |
Het |
| Taar3 |
A |
G |
10: 23,825,471 (GRCm39) |
I6V |
possibly damaging |
Het |
| Tec |
T |
C |
5: 72,917,701 (GRCm39) |
D506G |
probably damaging |
Het |
| Trabd |
A |
G |
15: 88,969,833 (GRCm39) |
I316V |
probably damaging |
Het |
| Ubr5 |
A |
T |
15: 38,013,786 (GRCm39) |
F952I |
probably damaging |
Het |
| Vat1l |
T |
C |
8: 114,932,556 (GRCm39) |
L34P |
probably benign |
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 |
|
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'- ACCAGTGAGATTGTGAGCAAC -3'
(R):5'- GTCCCCAATCACAGAGTAGACTG -3'
Sequencing Primer
(F):5'- AACAGACCATATATGTGTGTGTGTG -3'
(R):5'- CTGTGTGGGCTAAGGATTTCATTAAC -3'
|
| Posted On |
2015-07-21 |
Incidental Mutation