Incidental Mutation 'R4400:Elp3'
ID |
326604 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Elp3
|
Ensembl Gene |
ENSMUSG00000022031 |
Gene Name |
elongator acetyltransferase complex subunit 3 |
Synonyms |
KAT9, 2610507P14Rik |
MMRRC Submission |
041131-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.957)
|
Stock # |
R4400 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
14 |
Chromosomal Location |
65767898-65830524 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 65785539 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Lysine
at position 421
(E421K)
|
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: E440K
PolyPhen 2
Score 0.024 (Sensitivity: 0.95; Specificity: 0.81)
|
SMART Domains |
Protein: ENSMUSP00000022609 Gene: ENSMUSG00000022031 AA Change: E440K
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: E421K
PolyPhen 2
Score 0.137 (Sensitivity: 0.92; Specificity: 0.86)
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000225355
AA Change: E421K
PolyPhen 2
Score 0.887 (Sensitivity: 0.82; Specificity: 0.94)
|
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.0%
- 20x: 94.3%
|
Validation Efficiency |
|
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: 42 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Atp4b |
A |
G |
8: 13,438,810 (GRCm39) |
F189L |
probably damaging |
Het |
Atp8a1 |
A |
T |
5: 67,922,221 (GRCm39) |
Y372N |
probably benign |
Het |
Bves |
T |
C |
10: 45,245,389 (GRCm39) |
V354A |
probably benign |
Het |
Cd79b |
A |
T |
11: 106,202,836 (GRCm39) |
Y195* |
probably null |
Het |
Cog6 |
A |
C |
3: 52,920,362 (GRCm39) |
D131E |
probably benign |
Het |
Fbxw28 |
A |
T |
9: 109,157,378 (GRCm39) |
F237Y |
probably damaging |
Het |
Fezf1 |
T |
C |
6: 23,247,709 (GRCm39) |
N122S |
probably benign |
Het |
Galnt2 |
A |
G |
8: 125,051,042 (GRCm39) |
K157E |
probably damaging |
Het |
Git2 |
T |
C |
5: 114,871,970 (GRCm39) |
E141G |
possibly damaging |
Het |
Gm26888 |
T |
C |
11: 119,044,853 (GRCm39) |
|
silent |
Het |
Gnrhr |
T |
C |
5: 86,330,108 (GRCm39) |
|
probably null |
Het |
Hoxd13 |
A |
T |
2: 74,500,359 (GRCm39) |
D300V |
probably damaging |
Het |
Hspg2 |
G |
A |
4: 137,275,433 (GRCm39) |
A2748T |
probably benign |
Het |
Hyal2 |
A |
G |
9: 107,448,052 (GRCm39) |
N235S |
probably damaging |
Het |
Itgam |
T |
G |
7: 127,680,830 (GRCm39) |
L253R |
probably damaging |
Het |
Kcnh8 |
GAGACCAACGAGCAGCTGATGCTTCAGA |
GAGA |
17: 53,032,934 (GRCm39) |
74 |
probably benign |
Het |
Matr3 |
A |
T |
18: 35,716,969 (GRCm39) |
K591N |
possibly damaging |
Het |
Mep1a |
T |
A |
17: 43,785,897 (GRCm39) |
I731F |
possibly damaging |
Het |
Mrtfa |
G |
A |
15: 80,905,124 (GRCm39) |
Q103* |
probably null |
Het |
Muc5b |
A |
G |
7: 141,415,124 (GRCm39) |
D2690G |
possibly damaging |
Het |
Nlrc5 |
A |
G |
8: 95,220,981 (GRCm39) |
Q1140R |
probably benign |
Het |
Or14c39 |
A |
G |
7: 86,343,798 (GRCm39) |
I45V |
probably benign |
Het |
Or5ac23 |
C |
T |
16: 59,148,961 (GRCm39) |
V304I |
probably benign |
Het |
Or6b6 |
A |
G |
7: 106,571,209 (GRCm39) |
L114P |
probably damaging |
Het |
Plcl1 |
T |
C |
1: 55,754,736 (GRCm39) |
F1028L |
probably damaging |
Het |
Plpp2 |
A |
G |
10: 79,363,327 (GRCm39) |
V106A |
possibly damaging |
Het |
Prpf8 |
A |
G |
11: 75,381,528 (GRCm39) |
T255A |
possibly damaging |
Het |
Shoc2 |
A |
G |
19: 54,019,660 (GRCm39) |
I568V |
probably benign |
Het |
Spopl |
C |
T |
2: 23,407,957 (GRCm39) |
V241M |
probably damaging |
Het |
Ssrp1 |
A |
T |
2: 84,868,285 (GRCm39) |
D9V |
probably damaging |
Het |
Strn3 |
A |
T |
12: 51,694,883 (GRCm39) |
D293E |
possibly damaging |
Het |
Tbx3 |
G |
T |
5: 119,818,636 (GRCm39) |
D404Y |
probably damaging |
Het |
Tdrd7 |
T |
C |
4: 46,005,540 (GRCm39) |
S416P |
possibly damaging |
Het |
Trim60 |
G |
T |
8: 65,453,864 (GRCm39) |
Y128* |
probably null |
Het |
Tspoap1 |
T |
C |
11: 87,666,429 (GRCm39) |
S947P |
probably damaging |
Het |
Ttn |
A |
T |
2: 76,612,739 (GRCm39) |
S17113R |
probably damaging |
Het |
Ubqln1 |
T |
A |
13: 58,341,202 (GRCm39) |
N183I |
probably damaging |
Het |
Ubr4 |
A |
G |
4: 139,189,167 (GRCm39) |
N3917D |
possibly damaging |
Het |
Ucp2 |
A |
G |
7: 100,148,557 (GRCm39) |
*310W |
probably null |
Het |
Wdr76 |
A |
G |
2: 121,359,314 (GRCm39) |
M218V |
probably damaging |
Het |
Zranb3 |
A |
C |
1: 127,884,392 (GRCm39) |
L998R |
possibly damaging |
Het |
Zxdc |
G |
A |
6: 90,346,792 (GRCm39) |
G51E |
probably damaging |
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 |
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'- TGATGCTGAAATTTAGTGGGATCC -3'
(R):5'- TAGCCCATGAACAATCCTGTGC -3'
Sequencing Primer
(F):5'- AAATTTAGTGGGATCCCGGCTG -3'
(R):5'- ACAATCCTGTGCTACTTGAGAGG -3'
|
Posted On |
2015-07-07 |