Incidental Mutation 'R4420:Elp3'
| ID |
327068 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Elp3
|
| Ensembl Gene |
ENSMUSG00000022031 |
| Gene Name |
elongator acetyltransferase complex subunit 3 |
| Synonyms |
KAT9, 2610507P14Rik |
| MMRRC Submission |
041141-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.957)
|
| Stock # |
R4420 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
14 |
| Chromosomal Location |
65767898-65830524 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 65818240 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Valine
at position 140
(A140V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000153462
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022609]
[ENSMUST00000224743]
[ENSMUST00000225355]
|
| AlphaFold |
Q9CZX0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000022609
AA Change: A159V
PolyPhen 2
Score 0.403 (Sensitivity: 0.89; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000022609
Gene: ENSMUSG00000022031
AA Change: A159V
| Domain | Start | End | E-Value | Type |
|---|
|
Elp3
|
108 |
370 |
1.36e-37 |
SMART |
|
Blast:Elp3
|
387 |
431 |
2e-19 |
BLAST |
|
Pfam:Acetyltransf_1
|
460 |
555 |
1.1e-6 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000224743
AA Change: A140V
PolyPhen 2
Score 0.116 (Sensitivity: 0.93; Specificity: 0.86)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000225355
AA Change: A140V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Meta Mutation Damage Score |
0.1863 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.3%
|
| Validation Efficiency |
96% (53/55) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] ELP3 is the catalytic subunit of the histone acetyltransferase elongator complex, which contributes to transcript elongation and also regulates the maturation of projection neurons (Creppe et al., 2009 [PubMed 19185337]).[supplied by OMIM, Apr 2009]
PHENOTYPE: Embryos homozygous for a null gene trap mutation show severe growth retardation and die prior to E12.5. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arhgef17 |
G |
A |
7: 100,531,515 (GRCm39) |
|
probably benign |
Het |
| Atp1b1 |
T |
C |
1: 164,281,127 (GRCm39) |
T53A |
probably damaging |
Het |
| Carmil3 |
A |
G |
14: 55,731,045 (GRCm39) |
Q104R |
probably damaging |
Het |
| Casz1 |
T |
G |
4: 149,033,375 (GRCm39) |
N1382K |
possibly damaging |
Het |
| Chfr |
T |
A |
5: 110,318,746 (GRCm39) |
C585* |
probably null |
Het |
| Chp2 |
T |
C |
7: 121,821,161 (GRCm39) |
F174S |
probably damaging |
Het |
| Dclre1c |
A |
T |
2: 3,434,782 (GRCm39) |
|
probably null |
Het |
| Dnah6 |
A |
G |
6: 73,168,462 (GRCm39) |
V487A |
probably benign |
Het |
| Dnah9 |
T |
C |
11: 66,009,575 (GRCm39) |
R771G |
probably benign |
Het |
| Duox1 |
G |
A |
2: 122,157,607 (GRCm39) |
A578T |
probably benign |
Het |
| Fbrsl1 |
T |
C |
5: 110,526,852 (GRCm39) |
H387R |
possibly damaging |
Het |
| Gnat3 |
T |
C |
5: 18,204,799 (GRCm39) |
S151P |
probably damaging |
Het |
| Gucy1a2 |
T |
A |
9: 3,634,640 (GRCm39) |
L228H |
probably damaging |
Het |
| Gzmn |
A |
T |
14: 56,403,463 (GRCm39) |
H215Q |
probably benign |
Het |
| Heg1 |
A |
T |
16: 33,547,805 (GRCm39) |
E864V |
probably benign |
Het |
| Hoxb9 |
T |
C |
11: 96,162,807 (GRCm39) |
V147A |
probably benign |
Het |
| Hsf5 |
T |
G |
11: 87,548,130 (GRCm39) |
H604Q |
probably benign |
Het |
| Hus1 |
T |
C |
11: 8,950,133 (GRCm39) |
E196G |
probably damaging |
Het |
| Il12rb2 |
G |
T |
6: 67,293,394 (GRCm39) |
|
probably null |
Het |
| Irs1 |
T |
C |
1: 82,266,171 (GRCm39) |
S682G |
possibly damaging |
Het |
| Jcad |
T |
C |
18: 4,676,032 (GRCm39) |
S1265P |
probably benign |
Het |
| Kdm1b |
C |
T |
13: 47,216,553 (GRCm39) |
R308W |
probably damaging |
Het |
| Matk |
A |
G |
10: 81,098,291 (GRCm39) |
S361G |
possibly damaging |
Het |
| Mroh5 |
TGGAG |
TG |
15: 73,654,923 (GRCm39) |
|
probably benign |
Het |
| Nceh1 |
A |
G |
3: 27,295,798 (GRCm39) |
D353G |
probably damaging |
Het |
| Nqo1 |
C |
T |
8: 108,118,749 (GRCm39) |
|
probably null |
Het |
| Or5t7 |
A |
G |
2: 86,507,263 (GRCm39) |
V138A |
possibly damaging |
Het |
| Pcdh7 |
T |
C |
5: 58,286,512 (GRCm39) |
I1196T |
probably benign |
Het |
| Pla2g4d |
A |
G |
2: 120,114,644 (GRCm39) |
V29A |
probably benign |
Het |
| Ppfibp1 |
T |
A |
6: 146,927,736 (GRCm39) |
Y794* |
probably null |
Het |
| Prdx5 |
C |
A |
19: 6,885,332 (GRCm39) |
|
probably null |
Het |
| Psme4 |
C |
T |
11: 30,762,028 (GRCm39) |
T456I |
possibly damaging |
Het |
| Ptprd |
A |
T |
4: 75,957,614 (GRCm39) |
S923R |
possibly damaging |
Het |
| Samd12 |
G |
A |
15: 53,723,655 (GRCm39) |
R13W |
probably damaging |
Het |
| Slc35f4 |
A |
T |
14: 49,551,034 (GRCm39) |
|
probably benign |
Het |
| Smc1b |
A |
G |
15: 84,997,031 (GRCm39) |
Y530H |
probably damaging |
Het |
| Spata2l |
T |
C |
8: 123,960,768 (GRCm39) |
T174A |
possibly damaging |
Het |
| Sugct |
C |
T |
13: 17,627,130 (GRCm39) |
C241Y |
probably damaging |
Het |
| Tarbp1 |
G |
T |
8: 127,173,819 (GRCm39) |
A965D |
possibly damaging |
Het |
| Tas1r3 |
A |
G |
4: 155,946,789 (GRCm39) |
V272A |
probably damaging |
Het |
| Tas2r117 |
T |
A |
6: 132,780,312 (GRCm39) |
L150* |
probably null |
Het |
| Trip10 |
C |
T |
17: 57,562,448 (GRCm39) |
P322L |
probably benign |
Het |
| Wdfy3 |
A |
C |
5: 102,058,850 (GRCm39) |
H1487Q |
probably damaging |
Het |
| Wdr95 |
G |
A |
5: 149,456,131 (GRCm39) |
V8M |
probably damaging |
Het |
| Zc3h15 |
C |
A |
2: 83,488,356 (GRCm39) |
A98E |
probably damaging |
Het |
| Zfp763 |
T |
G |
17: 33,237,455 (GRCm39) |
K563N |
probably benign |
Het |
| Zmym2 |
G |
A |
14: 57,194,335 (GRCm39) |
D1198N |
probably damaging |
Het |
| Zp1 |
C |
T |
19: 10,892,124 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in Elp3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02477:Elp3
|
APN |
14 |
65,800,760 (GRCm39) |
missense |
probably benign |
|
|
R0052:Elp3
|
UTSW |
14 |
65,768,975 (GRCm39) |
makesense |
probably null |
|
|
R0333:Elp3
|
UTSW |
14 |
65,828,042 (GRCm39) |
missense |
probably benign |
0.05 |
|
R0513:Elp3
|
UTSW |
14 |
65,800,695 (GRCm39) |
splice site |
probably null |
|
|
R0980:Elp3
|
UTSW |
14 |
65,815,402 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1137:Elp3
|
UTSW |
14 |
65,785,370 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1259:Elp3
|
UTSW |
14 |
65,785,388 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R1378:Elp3
|
UTSW |
14 |
65,830,380 (GRCm39) |
missense |
probably benign |
|
|
R1722:Elp3
|
UTSW |
14 |
65,788,846 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1789:Elp3
|
UTSW |
14 |
65,785,368 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3843:Elp3
|
UTSW |
14 |
65,802,932 (GRCm39) |
splice site |
probably null |
|
|
R4125:Elp3
|
UTSW |
14 |
65,797,630 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R4196:Elp3
|
UTSW |
14 |
65,785,451 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4400:Elp3
|
UTSW |
14 |
65,785,539 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R4516:Elp3
|
UTSW |
14 |
65,785,326 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R4764:Elp3
|
UTSW |
14 |
65,820,378 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4838:Elp3
|
UTSW |
14 |
65,785,313 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5052:Elp3
|
UTSW |
14 |
65,815,389 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5111:Elp3
|
UTSW |
14 |
65,797,685 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5665:Elp3
|
UTSW |
14 |
65,788,851 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R5702:Elp3
|
UTSW |
14 |
65,815,431 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5754:Elp3
|
UTSW |
14 |
65,785,439 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5927:Elp3
|
UTSW |
14 |
65,819,626 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5999:Elp3
|
UTSW |
14 |
65,768,989 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6378:Elp3
|
UTSW |
14 |
65,830,420 (GRCm39) |
nonsense |
probably null |
|
|
R6384:Elp3
|
UTSW |
14 |
65,797,660 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6601:Elp3
|
UTSW |
14 |
65,784,488 (GRCm39) |
makesense |
probably null |
|
|
R7263:Elp3
|
UTSW |
14 |
65,802,782 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7857:Elp3
|
UTSW |
14 |
65,800,759 (GRCm39) |
missense |
probably benign |
0.14 |
|
R8504:Elp3
|
UTSW |
14 |
65,785,360 (GRCm39) |
missense |
probably benign |
0.03 |
|
R8789:Elp3
|
UTSW |
14 |
65,802,870 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8853:Elp3
|
UTSW |
14 |
65,815,390 (GRCm39) |
missense |
probably benign |
0.31 |
|
R9056:Elp3
|
UTSW |
14 |
65,797,582 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9234:Elp3
|
UTSW |
14 |
65,788,920 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9311:Elp3
|
UTSW |
14 |
65,823,788 (GRCm39) |
missense |
probably benign |
0.02 |
|
R9551:Elp3
|
UTSW |
14 |
65,797,634 (GRCm39) |
missense |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- ACACAACAGTCTCTAAGCAGTG -3'
(R):5'- CTCGGCACCTTGTTAAGACAG -3'
Sequencing Primer
(F):5'- GTCTCTAAGCAGTGTAAGTCTGACC -3'
(R):5'- GCACCTTGTTAAGACAGGCTAG -3'
|
| Posted On |
2015-07-07 |
Incidental Mutation