Incidental Mutation 'R9719:Elp2'
| ID |
730689 |
| 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 |
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.960)
|
| Stock # |
R9719 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
18 |
| Chromosomal Location |
24737018-24771887 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 24755539 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 429
(T429A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000025120
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025120]
|
| AlphaFold |
Q91WG4 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000025120
AA Change: T429A
PolyPhen 2
Score 0.924 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000025120
Gene: ENSMUSG00000024271
AA Change: T429A
| 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: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
| 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: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Alppl2 |
T |
A |
1: 87,016,136 (GRCm39) |
Q241L |
probably benign |
Het |
| Apob |
T |
A |
12: 8,065,464 (GRCm39) |
N4144K |
probably benign |
Het |
| B4gat1 |
A |
G |
19: 5,090,516 (GRCm39) |
H413R |
probably benign |
Het |
| Ccdc179 |
T |
C |
7: 51,664,612 (GRCm39) |
T28A |
probably benign |
Het |
| Ceacam5 |
A |
C |
7: 17,491,835 (GRCm39) |
D735A |
probably damaging |
Het |
| Col18a1 |
C |
T |
10: 76,949,432 (GRCm39) |
D27N |
unknown |
Het |
| Colgalt1 |
A |
G |
8: 72,073,456 (GRCm39) |
E359G |
probably benign |
Het |
| Crybg2 |
T |
A |
4: 133,793,148 (GRCm39) |
I261N |
probably benign |
Het |
| Cyyr1 |
A |
T |
16: 85,219,203 (GRCm39) |
L68Q |
unknown |
Het |
| Dgkz |
T |
A |
2: 91,768,911 (GRCm39) |
|
probably null |
Het |
| Efcab3 |
A |
T |
11: 104,867,912 (GRCm39) |
E3947V |
unknown |
Het |
| Eif2ak2 |
C |
A |
17: 79,162,783 (GRCm39) |
D472Y |
probably damaging |
Het |
| Fen1 |
G |
A |
19: 10,178,016 (GRCm39) |
H143Y |
probably benign |
Het |
| Gm10518 |
C |
A |
1: 179,631,113 (GRCm39) |
R58S |
unknown |
Het |
| Hspa1b |
T |
C |
17: 35,176,467 (GRCm39) |
D506G |
probably damaging |
Het |
| Inhca |
G |
T |
9: 103,132,014 (GRCm39) |
P569H |
probably benign |
Het |
| Kcna7 |
A |
G |
7: 45,056,390 (GRCm39) |
D202G |
probably benign |
Het |
| Krt9 |
TCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCC |
TCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCC |
11: 100,079,903 (GRCm39) |
|
probably benign |
Het |
| Mal |
C |
T |
2: 127,498,025 (GRCm39) |
S10N |
possibly damaging |
Het |
| Mgat2 |
T |
A |
12: 69,232,115 (GRCm39) |
W230R |
probably damaging |
Het |
| Myo3a |
A |
T |
2: 22,436,493 (GRCm39) |
T883S |
probably benign |
Het |
| Ncaph2 |
T |
C |
15: 89,249,526 (GRCm39) |
S277P |
probably benign |
Het |
| Olfm3 |
G |
A |
3: 114,916,091 (GRCm39) |
W341* |
probably null |
Het |
| Or13c7e-ps1 |
A |
C |
4: 43,781,454 (GRCm39) |
M292R |
probably damaging |
Het |
| Or1p1 |
A |
C |
11: 74,180,146 (GRCm39) |
I225L |
probably damaging |
Het |
| Or5b119 |
A |
G |
19: 13,457,368 (GRCm39) |
S65P |
probably damaging |
Het |
| Or5d46 |
T |
A |
2: 88,169,928 (GRCm39) |
N6K |
|
Het |
| Or5g26 |
T |
A |
2: 85,494,608 (GRCm39) |
I57F |
probably benign |
Het |
| Or6z1 |
C |
A |
7: 6,504,999 (GRCm39) |
M75I |
probably benign |
Het |
| Pcnx4 |
T |
C |
12: 72,603,039 (GRCm39) |
Y434H |
probably damaging |
Het |
| Ptpn14 |
T |
A |
1: 189,583,484 (GRCm39) |
M777K |
probably benign |
Het |
| Rasef |
A |
G |
4: 73,688,102 (GRCm39) |
I17T |
possibly damaging |
Het |
| Rptor |
A |
T |
11: 119,781,940 (GRCm39) |
D1089V |
probably benign |
Het |
| Scel |
A |
T |
14: 103,809,442 (GRCm39) |
|
probably null |
Het |
| Scfd2 |
A |
T |
5: 74,386,004 (GRCm39) |
L605Q |
probably damaging |
Het |
| Son |
A |
G |
16: 91,456,440 (GRCm39) |
E1729G |
probably damaging |
Het |
| Spata31e2 |
C |
G |
1: 26,722,820 (GRCm39) |
E787Q |
probably benign |
Het |
| Spout1 |
A |
G |
2: 30,065,813 (GRCm39) |
Y243H |
probably benign |
Het |
| Syne1 |
A |
G |
10: 5,276,601 (GRCm39) |
F1765S |
possibly damaging |
Het |
| Tet2 |
A |
T |
3: 133,191,803 (GRCm39) |
V877E |
possibly damaging |
Het |
| Txn2 |
T |
C |
15: 77,812,289 (GRCm39) |
|
probably benign |
Het |
| Vmn1r158 |
T |
C |
7: 22,489,331 (GRCm39) |
I293V |
possibly damaging |
Het |
| Vmn1r81 |
G |
A |
7: 11,994,449 (GRCm39) |
T53I |
probably damaging |
Het |
| Vps18 |
T |
C |
2: 119,127,553 (GRCm39) |
F792S |
probably damaging |
Het |
| Vps25 |
A |
G |
11: 101,146,853 (GRCm39) |
D91G |
probably null |
Het |
| Wdr26 |
G |
A |
1: 181,015,224 (GRCm39) |
L396F |
possibly damaging |
Het |
| Zfp1005 |
T |
A |
2: 150,111,304 (GRCm39) |
C665S |
possibly damaging |
Het |
| Zfp26 |
T |
C |
9: 20,347,861 (GRCm39) |
E901G |
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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTCAGGCTGAGGCTACCATG -3'
(R):5'- GTCATGGCTCCCATAAAAGTCTATG -3'
Sequencing Primer
(F):5'- TACCATGGGACGTCACTGCAC -3'
(R):5'- ACAGAGCATGTGACTTAGTGACTGTC -3'
|
| Posted On |
2022-10-06 |
Incidental Mutation