Incidental Mutation 'R1259:Elp3'
| ID |
151559 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Elp3
|
| Ensembl Gene |
ENSMUSG00000022031 |
| Gene Name |
elongator acetyltransferase complex subunit 3 |
| Synonyms |
KAT9, 2610507P14Rik |
| MMRRC Submission |
039326-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.957)
|
| Stock # |
R1259 (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 T
at 65785388 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Lysine
at position 471
(I471K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000153177
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022609]
[ENSMUST00000224743]
[ENSMUST00000225355]
|
| AlphaFold |
Q9CZX0 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000022609
AA Change: I490K
PolyPhen 2
Score 0.929 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000022609
Gene: ENSMUSG00000022031
AA Change: I490K
| 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: I471K
PolyPhen 2
Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000225355
AA Change: I471K
PolyPhen 2
Score 0.878 (Sensitivity: 0.82; Specificity: 0.94)
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.9%
- 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: 25 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam26a |
T |
A |
8: 44,021,684 (GRCm39) |
D602V |
probably benign |
Het |
| Adam26a |
T |
C |
8: 44,021,750 (GRCm39) |
D580G |
possibly damaging |
Het |
| B4galt6 |
T |
G |
18: 20,839,559 (GRCm39) |
E125A |
possibly damaging |
Het |
| Dnm1l |
A |
G |
16: 16,141,870 (GRCm39) |
I292T |
possibly damaging |
Het |
| Fbxw13 |
A |
T |
9: 109,014,439 (GRCm39) |
V83E |
probably damaging |
Het |
| Gm5422 |
T |
C |
10: 31,125,111 (GRCm39) |
|
noncoding transcript |
Het |
| Krtap6-5 |
C |
T |
16: 88,844,607 (GRCm39) |
R42H |
unknown |
Het |
| Lpcat2b |
C |
T |
5: 107,581,763 (GRCm39) |
A364V |
probably damaging |
Het |
| Ltbp1 |
A |
G |
17: 75,532,280 (GRCm39) |
Q118R |
possibly damaging |
Het |
| Lypd9 |
A |
G |
11: 58,338,296 (GRCm39) |
I32T |
probably benign |
Het |
| Med7 |
C |
G |
11: 46,331,460 (GRCm39) |
I18M |
probably damaging |
Het |
| Muc6 |
T |
A |
7: 141,226,464 (GRCm39) |
|
probably benign |
Het |
| Or8b42 |
T |
A |
9: 38,342,169 (GRCm39) |
L197Q |
probably damaging |
Het |
| Or8k16 |
T |
A |
2: 85,519,875 (GRCm39) |
I34N |
probably damaging |
Het |
| Pbrm1 |
T |
C |
14: 30,796,771 (GRCm39) |
F871L |
probably damaging |
Het |
| Pgbd5 |
T |
A |
8: 125,097,324 (GRCm39) |
D493V |
probably damaging |
Het |
| Pik3cd |
G |
A |
4: 149,735,105 (GRCm39) |
R1046* |
probably null |
Het |
| Pom121l2 |
G |
A |
13: 22,166,297 (GRCm39) |
W189* |
probably null |
Het |
| Prex2 |
C |
A |
1: 11,359,494 (GRCm39) |
N1567K |
probably damaging |
Het |
| Prl |
A |
G |
13: 27,245,472 (GRCm39) |
|
probably null |
Het |
| Ptpro |
T |
C |
6: 137,369,739 (GRCm39) |
V517A |
probably damaging |
Het |
| Rfwd3 |
C |
T |
8: 112,014,874 (GRCm39) |
R326Q |
probably damaging |
Het |
| Tenm2 |
C |
T |
11: 35,954,004 (GRCm39) |
G1236R |
possibly damaging |
Het |
| Vmn2r12 |
T |
A |
5: 109,239,763 (GRCm39) |
I267F |
probably damaging |
Het |
| Wasf3 |
T |
C |
5: 146,388,786 (GRCm39) |
V80A |
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 |
|
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'- TTCGATTCCACAGGAAGTGAACCAG -3'
(R):5'- GTTTCATGGCTCCTTATCCACCAGG -3'
Sequencing Primer
(F):5'- ATCCTTTGGAACCACATGGG -3'
(R):5'- TTATCCACCAGGTCGAGTTG -3'
|
| Posted On |
2014-01-29 |
Incidental Mutation