Incidental Mutation 'R1137:Elp3'
ID |
95213 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Elp3
|
Ensembl Gene |
ENSMUSG00000022031 |
Gene Name |
elongator acetyltransferase complex subunit 3 |
Synonyms |
KAT9, 2610507P14Rik |
MMRRC Submission |
039210-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.957)
|
Stock # |
R1137 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
14 |
Chromosomal Location |
65767898-65830524 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 65785370 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 477
(V477A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000153177
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022609]
[ENSMUST00000224743]
[ENSMUST00000225355]
|
AlphaFold |
Q9CZX0 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000022609
AA Change: V496A
PolyPhen 2
Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000022609 Gene: ENSMUSG00000022031 AA Change: V496A
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: V477A
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000225355
AA Change: V477A
PolyPhen 2
Score 0.701 (Sensitivity: 0.86; Specificity: 0.92)
|
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.7%
- 20x: 94.1%
|
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: 36 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2410002F23Rik |
T |
A |
7: 43,900,256 (GRCm39) |
S54T |
probably benign |
Het |
Ahdc1 |
A |
G |
4: 132,789,424 (GRCm39) |
T222A |
possibly damaging |
Het |
Akap8l |
C |
T |
17: 32,551,457 (GRCm39) |
R511H |
probably damaging |
Het |
Cep250 |
A |
G |
2: 155,832,760 (GRCm39) |
K1561E |
probably benign |
Het |
Chmp7 |
C |
T |
14: 69,956,899 (GRCm39) |
M336I |
probably benign |
Het |
Clca4a |
A |
G |
3: 144,676,446 (GRCm39) |
V78A |
probably damaging |
Het |
Clec4n |
G |
A |
6: 123,223,526 (GRCm39) |
M170I |
possibly damaging |
Het |
Cp |
G |
T |
3: 20,033,116 (GRCm39) |
A648S |
probably benign |
Het |
Creld2 |
G |
A |
15: 88,704,834 (GRCm39) |
W103* |
probably null |
Het |
Dnah8 |
A |
G |
17: 31,074,910 (GRCm39) |
D4543G |
probably damaging |
Het |
Exoc6b |
A |
G |
6: 84,885,205 (GRCm39) |
S245P |
probably benign |
Het |
Fkbp9 |
G |
T |
6: 56,837,682 (GRCm39) |
G312V |
probably damaging |
Het |
Htr4 |
A |
G |
18: 62,570,624 (GRCm39) |
I226M |
probably damaging |
Het |
Impa2 |
G |
A |
18: 67,451,497 (GRCm39) |
V264I |
probably benign |
Het |
Kif20b |
T |
C |
19: 34,914,486 (GRCm39) |
|
probably null |
Het |
Kmt2c |
C |
A |
5: 25,515,981 (GRCm39) |
V2621F |
possibly damaging |
Het |
Lif |
A |
G |
11: 4,219,237 (GRCm39) |
D172G |
probably damaging |
Het |
Llgl1 |
C |
A |
11: 60,595,559 (GRCm39) |
H82N |
probably benign |
Het |
Lrwd1 |
T |
C |
5: 136,162,273 (GRCm39) |
I162M |
probably benign |
Het |
Mdn1 |
T |
A |
4: 32,694,511 (GRCm39) |
I1078N |
probably damaging |
Het |
Muc1 |
A |
T |
3: 89,137,745 (GRCm39) |
T196S |
probably benign |
Het |
Myh7b |
T |
C |
2: 155,464,634 (GRCm39) |
L657P |
probably damaging |
Het |
Nup155 |
A |
T |
15: 8,187,244 (GRCm39) |
H1391L |
probably damaging |
Het |
Ppp1cb |
T |
C |
5: 32,645,015 (GRCm39) |
M55T |
probably damaging |
Het |
Ppp1r9a |
T |
C |
6: 5,159,697 (GRCm39) |
M1078T |
possibly damaging |
Het |
Rarg |
T |
C |
15: 102,149,595 (GRCm39) |
T125A |
probably damaging |
Het |
Rfwd3 |
C |
T |
8: 112,014,874 (GRCm39) |
R326Q |
probably damaging |
Het |
Slc5a7 |
G |
A |
17: 54,600,039 (GRCm39) |
R125C |
probably damaging |
Het |
Tedc2 |
T |
A |
17: 24,435,291 (GRCm39) |
E366V |
probably damaging |
Het |
Tedc2 |
C |
A |
17: 24,435,292 (GRCm39) |
E366* |
probably null |
Het |
Tigit |
G |
T |
16: 43,469,485 (GRCm39) |
T202N |
probably benign |
Het |
Tmem132b |
C |
T |
5: 125,860,606 (GRCm39) |
A617V |
possibly damaging |
Het |
Tpm1 |
T |
C |
9: 66,938,400 (GRCm39) |
|
probably null |
Het |
Ubr3 |
A |
G |
2: 69,768,659 (GRCm39) |
|
probably benign |
Het |
Vcan |
T |
A |
13: 89,852,422 (GRCm39) |
D846V |
probably damaging |
Het |
Vmn1r16 |
T |
G |
6: 57,300,221 (GRCm39) |
N134H |
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 |
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 |
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'- TTAGTCAGCACTCCATCGAGAGCC -3'
(R):5'- TATCCACCAGGTCGAGTTGGTACG -3'
Sequencing Primer
(F):5'- ATCCTTTGGAACCACATGGG -3'
(R):5'- CGGAGAGATTATGTTGCCAATGG -3'
|
Posted On |
2014-01-05 |