Incidental Mutation 'R4196:Elp3'
ID |
318575 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Elp3
|
Ensembl Gene |
ENSMUSG00000022031 |
Gene Name |
elongator acetyltransferase complex subunit 3 |
Synonyms |
KAT9, 2610507P14Rik |
MMRRC Submission |
041027-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.957)
|
Stock # |
R4196 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
14 |
Chromosomal Location |
65767898-65830524 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 65785451 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Proline
at position 450
(L450P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000153462
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022609]
[ENSMUST00000224743]
[ENSMUST00000225355]
|
AlphaFold |
Q9CZX0 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000022609
AA Change: L469P
PolyPhen 2
Score 0.909 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000022609 Gene: ENSMUSG00000022031 AA Change: L469P
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 damaging
Transcript: ENSMUST00000224743
AA Change: L450P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000225355
AA Change: L450P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
Meta Mutation Damage Score |
0.9681 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.8%
|
Validation Efficiency |
100% (39/39) |
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: 35 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acmsd |
T |
G |
1: 127,676,931 (GRCm39) |
L152R |
probably damaging |
Het |
Ankle2 |
A |
G |
5: 110,392,409 (GRCm39) |
K472E |
possibly damaging |
Het |
Aup1 |
T |
C |
6: 83,032,211 (GRCm39) |
V126A |
probably damaging |
Het |
Baz1a |
T |
C |
12: 54,958,200 (GRCm39) |
Y1014C |
probably damaging |
Het |
Bcl9 |
A |
T |
3: 97,123,684 (GRCm39) |
|
probably benign |
Het |
Bltp2 |
A |
G |
11: 78,154,382 (GRCm39) |
|
probably benign |
Het |
Cnot2 |
A |
T |
10: 116,337,209 (GRCm39) |
N221K |
possibly damaging |
Het |
Col19a1 |
G |
A |
1: 24,573,133 (GRCm39) |
S213L |
unknown |
Het |
Eif4enif1 |
T |
C |
11: 3,193,186 (GRCm39) |
V675A |
possibly damaging |
Het |
Elp1 |
A |
T |
4: 56,755,353 (GRCm39) |
N1295K |
probably damaging |
Het |
Erbb4 |
C |
T |
1: 68,383,014 (GRCm39) |
D328N |
possibly damaging |
Het |
Fbll1 |
T |
A |
11: 35,688,699 (GRCm39) |
H188L |
possibly damaging |
Het |
Frem2 |
A |
G |
3: 53,446,689 (GRCm39) |
F2360L |
possibly damaging |
Het |
Gm2396 |
A |
G |
9: 88,799,715 (GRCm39) |
|
noncoding transcript |
Het |
Gulo |
G |
T |
14: 66,225,702 (GRCm39) |
P375T |
possibly damaging |
Het |
Hspd1 |
T |
C |
1: 55,126,068 (GRCm39) |
M11V |
probably benign |
Het |
Itgav |
A |
G |
2: 83,598,671 (GRCm39) |
T243A |
probably benign |
Het |
Lipg |
C |
T |
18: 75,078,902 (GRCm39) |
R450H |
probably damaging |
Het |
Lrp3 |
T |
A |
7: 34,902,835 (GRCm39) |
S504C |
probably damaging |
Het |
Mrps9 |
T |
G |
1: 42,940,254 (GRCm39) |
|
probably benign |
Het |
Nlgn1 |
A |
G |
3: 25,488,556 (GRCm39) |
V564A |
probably damaging |
Het |
Ntf3 |
T |
C |
6: 126,079,138 (GRCm39) |
T110A |
probably benign |
Het |
Pkd1l1 |
T |
A |
11: 8,859,929 (GRCm39) |
I560F |
probably damaging |
Het |
Prepl |
T |
C |
17: 85,388,582 (GRCm39) |
T174A |
probably benign |
Het |
Ptprg |
A |
T |
14: 12,122,002 (GRCm38) |
T289S |
possibly damaging |
Het |
Rab11fip2 |
T |
C |
19: 59,924,213 (GRCm39) |
T222A |
probably damaging |
Het |
Rhbdd3 |
G |
T |
11: 5,049,460 (GRCm39) |
|
probably benign |
Het |
Septin4 |
C |
A |
11: 87,479,598 (GRCm39) |
D239E |
probably damaging |
Het |
Shprh |
A |
G |
10: 11,083,604 (GRCm39) |
|
probably benign |
Het |
Slc3a1 |
T |
A |
17: 85,368,306 (GRCm39) |
W525R |
probably damaging |
Het |
Trim75 |
A |
G |
8: 65,435,416 (GRCm39) |
S345P |
probably damaging |
Het |
Usp5 |
C |
T |
6: 124,801,901 (GRCm39) |
E72K |
possibly damaging |
Het |
Vmn1r225 |
T |
A |
17: 20,723,237 (GRCm39) |
M226K |
probably benign |
Het |
Wnk4 |
T |
A |
11: 101,160,457 (GRCm39) |
V697E |
probably damaging |
Het |
Zbtb9 |
C |
T |
17: 27,192,853 (GRCm39) |
T86I |
probably benign |
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 |
R4400:Elp3
|
UTSW |
14 |
65,785,539 (GRCm39) |
missense |
possibly damaging |
0.89 |
R4420:Elp3
|
UTSW |
14 |
65,818,240 (GRCm39) |
missense |
probably damaging |
1.00 |
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'- AACATGGAGAAGGACTGCCC -3'
(R):5'- TGTGCTACTTGAGAGGAGGC -3'
Sequencing Primer
(F):5'- TGGAGAAGGACTGCCCCAAAAC -3'
(R):5'- GTTCCTAGCTGAACATTAGCCTAAAC -3'
|
Posted On |
2015-06-10 |