Incidental Mutation 'R6384:Elp3'
| ID |
515517 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Elp3
|
| Ensembl Gene |
ENSMUSG00000022031 |
| Gene Name |
elongator acetyltransferase complex subunit 3 |
| Synonyms |
KAT9, 2610507P14Rik |
| MMRRC Submission |
044533-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.956)
|
| Stock # |
R6384 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
14 |
| Chromosomal Location |
65530449-65593075 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 65560211 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 337
(Y337C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000153462
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022609]
[ENSMUST00000224743]
[ENSMUST00000225355]
|
| AlphaFold |
Q9CZX0 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000022609
AA Change: Y356C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000022609
Gene: ENSMUSG00000022031
AA Change: Y356C
| 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: Y337C
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000225355
AA Change: Y337C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 98.2%
|
| 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: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acad10 |
T |
A |
5: 121,652,003 (GRCm38) |
T97S |
probably benign |
Het |
| Adam34 |
T |
A |
8: 43,650,799 (GRCm38) |
D603V |
probably benign |
Het |
| Adamts5 |
C |
T |
16: 85,862,828 (GRCm38) |
V859I |
probably benign |
Het |
| Alb |
T |
A |
5: 90,472,640 (GRCm38) |
D536E |
possibly damaging |
Het |
| Amz2 |
A |
G |
11: 109,429,034 (GRCm38) |
Y82C |
probably damaging |
Het |
| Asxl1 |
T |
C |
2: 153,391,824 (GRCm38) |
|
probably null |
Het |
| Bach1 |
C |
T |
16: 87,719,857 (GRCm38) |
Q429* |
probably null |
Het |
| Bcl6 |
A |
G |
16: 23,974,865 (GRCm38) |
Y111H |
probably damaging |
Het |
| Ccnj |
T |
C |
19: 40,846,007 (GRCm38) |
V338A |
probably benign |
Het |
| Cdca3 |
C |
T |
6: 124,832,419 (GRCm38) |
P174L |
probably damaging |
Het |
| Cdk17 |
T |
C |
10: 93,211,965 (GRCm38) |
L25P |
probably damaging |
Het |
| Cdr2 |
G |
A |
7: 120,982,128 (GRCm38) |
|
probably null |
Het |
| Cyp2c38 |
A |
T |
19: 39,392,293 (GRCm38) |
|
probably null |
Het |
| Ednra |
T |
C |
8: 77,689,094 (GRCm38) |
N175D |
probably damaging |
Het |
| Eml2 |
G |
A |
7: 19,201,163 (GRCm38) |
V432I |
probably damaging |
Het |
| Eps15l1 |
A |
T |
8: 72,368,710 (GRCm38) |
|
probably null |
Het |
| F11r |
A |
G |
1: 171,460,940 (GRCm38) |
N117S |
probably benign |
Het |
| Foxp2 |
C |
T |
6: 15,437,948 (GRCm38) |
T716I |
probably damaging |
Het |
| Gnaq |
A |
G |
19: 16,316,013 (GRCm38) |
|
probably null |
Het |
| Gpat2 |
G |
C |
2: 127,431,918 (GRCm38) |
G294R |
possibly damaging |
Het |
| Gpr158 |
T |
C |
2: 21,826,288 (GRCm38) |
M733T |
probably damaging |
Het |
| Hdac7 |
G |
A |
15: 97,811,506 (GRCm38) |
Q48* |
probably null |
Het |
| Hmga2 |
G |
A |
10: 120,370,707 (GRCm38) |
|
probably benign |
Het |
| Itgb7 |
A |
G |
15: 102,224,451 (GRCm38) |
V142A |
probably benign |
Het |
| Kif5a |
T |
C |
10: 127,242,775 (GRCm38) |
N334D |
probably damaging |
Het |
| Lrrc47 |
T |
C |
4: 154,015,860 (GRCm38) |
S298P |
probably benign |
Het |
| Map3k1 |
A |
T |
13: 111,750,530 (GRCm38) |
S1415R |
probably damaging |
Het |
| Mdn1 |
T |
A |
4: 32,670,607 (GRCm38) |
L424Q |
probably damaging |
Het |
| Numb |
A |
C |
12: 83,803,974 (GRCm38) |
L154R |
probably damaging |
Het |
| Olfr1076 |
A |
G |
2: 86,509,037 (GRCm38) |
K193E |
probably benign |
Het |
| Olfr944 |
T |
C |
9: 39,217,978 (GRCm38) |
V207A |
probably benign |
Het |
| Pdcd5 |
G |
T |
7: 35,646,909 (GRCm38) |
A92E |
possibly damaging |
Het |
| Pdcl2 |
C |
T |
5: 76,331,008 (GRCm38) |
|
probably null |
Het |
| Rbfa |
T |
C |
18: 80,192,781 (GRCm38) |
Y251C |
probably damaging |
Het |
| Rgsl1 |
G |
A |
1: 153,827,545 (GRCm38) |
T120I |
possibly damaging |
Het |
| Serpina3g |
A |
G |
12: 104,240,396 (GRCm38) |
Q152R |
probably null |
Het |
| Setx |
T |
C |
2: 29,173,558 (GRCm38) |
S2289P |
probably damaging |
Het |
| Slc6a16 |
A |
G |
7: 45,257,593 (GRCm38) |
|
probably null |
Het |
| Slco1a6 |
C |
T |
6: 142,109,379 (GRCm38) |
D280N |
probably benign |
Het |
| Syde2 |
T |
A |
3: 145,998,813 (GRCm38) |
Y240N |
probably damaging |
Het |
| Synpo2 |
G |
A |
3: 123,113,049 (GRCm38) |
Q873* |
probably null |
Het |
| Tlr2 |
A |
G |
3: 83,836,994 (GRCm38) |
V594A |
probably benign |
Het |
| Ttc16 |
C |
T |
2: 32,767,549 (GRCm38) |
A512T |
probably damaging |
Het |
| Tubb5 |
T |
C |
17: 35,838,046 (GRCm38) |
E3G |
probably damaging |
Het |
| Vmn2r112 |
T |
C |
17: 22,605,155 (GRCm38) |
Y464H |
probably damaging |
Het |
| Xcr1 |
T |
A |
9: 123,855,782 (GRCm38) |
H305L |
probably damaging |
Het |
| Yars |
T |
G |
4: 129,196,978 (GRCm38) |
|
probably null |
Het |
|
| Other mutations in Elp3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02477:Elp3
|
APN |
14 |
65,563,311 (GRCm38) |
missense |
probably benign |
|
|
R0052:Elp3
|
UTSW |
14 |
65,531,526 (GRCm38) |
makesense |
probably null |
|
|
R0333:Elp3
|
UTSW |
14 |
65,590,593 (GRCm38) |
missense |
probably benign |
0.05 |
|
R0513:Elp3
|
UTSW |
14 |
65,563,246 (GRCm38) |
splice site |
probably null |
|
|
R0980:Elp3
|
UTSW |
14 |
65,577,953 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1137:Elp3
|
UTSW |
14 |
65,547,921 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R1259:Elp3
|
UTSW |
14 |
65,547,939 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R1378:Elp3
|
UTSW |
14 |
65,592,931 (GRCm38) |
missense |
probably benign |
|
|
R1722:Elp3
|
UTSW |
14 |
65,551,397 (GRCm38) |
missense |
probably benign |
0.02 |
|
R1789:Elp3
|
UTSW |
14 |
65,547,919 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3843:Elp3
|
UTSW |
14 |
65,565,483 (GRCm38) |
splice site |
probably null |
|
|
R4125:Elp3
|
UTSW |
14 |
65,560,181 (GRCm38) |
missense |
possibly damaging |
0.64 |
|
R4196:Elp3
|
UTSW |
14 |
65,548,002 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4400:Elp3
|
UTSW |
14 |
65,548,090 (GRCm38) |
missense |
possibly damaging |
0.89 |
|
R4420:Elp3
|
UTSW |
14 |
65,580,791 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4516:Elp3
|
UTSW |
14 |
65,547,877 (GRCm38) |
missense |
possibly damaging |
0.46 |
|
R4764:Elp3
|
UTSW |
14 |
65,582,929 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4838:Elp3
|
UTSW |
14 |
65,547,864 (GRCm38) |
critical splice donor site |
probably null |
|
|
R5052:Elp3
|
UTSW |
14 |
65,577,940 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5111:Elp3
|
UTSW |
14 |
65,560,236 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5665:Elp3
|
UTSW |
14 |
65,551,402 (GRCm38) |
missense |
possibly damaging |
0.80 |
|
R5702:Elp3
|
UTSW |
14 |
65,577,982 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5754:Elp3
|
UTSW |
14 |
65,547,990 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5927:Elp3
|
UTSW |
14 |
65,582,177 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5999:Elp3
|
UTSW |
14 |
65,531,540 (GRCm38) |
missense |
probably benign |
0.01 |
|
R6378:Elp3
|
UTSW |
14 |
65,592,971 (GRCm38) |
nonsense |
probably null |
|
|
R6601:Elp3
|
UTSW |
14 |
65,547,039 (GRCm38) |
makesense |
probably null |
|
|
R7263:Elp3
|
UTSW |
14 |
65,565,333 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R7857:Elp3
|
UTSW |
14 |
65,563,310 (GRCm38) |
missense |
probably benign |
0.14 |
|
R8504:Elp3
|
UTSW |
14 |
65,547,911 (GRCm38) |
missense |
probably benign |
0.03 |
|
R8789:Elp3
|
UTSW |
14 |
65,565,421 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8853:Elp3
|
UTSW |
14 |
65,577,941 (GRCm38) |
missense |
probably benign |
0.31 |
|
R9056:Elp3
|
UTSW |
14 |
65,560,133 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R9234:Elp3
|
UTSW |
14 |
65,551,471 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9311:Elp3
|
UTSW |
14 |
65,586,339 (GRCm38) |
missense |
probably benign |
0.02 |
|
R9551:Elp3
|
UTSW |
14 |
65,560,185 (GRCm38) |
missense |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TCCTACACATGGCATTCCTG -3'
(R):5'- CCCCTGTACACTTGACAGAAGG -3'
Sequencing Primer
(F):5'- ACACATGGCATTCCTGATATTCTAC -3'
(R):5'- CCTGTACACTTGACAGAAGGGACAG -3'
|
| Posted On |
2018-05-04 |
Incidental Mutation