Incidental Mutation 'R4362:Edc3'
| ID |
324953 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Edc3
|
| Ensembl Gene |
ENSMUSG00000038957 |
| Gene Name |
enhancer of mRNA decapping 3 |
| Synonyms |
Lsm16, Yjdc |
| MMRRC Submission |
041671-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4362 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
57615823-57659782 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 57620829 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Leucine
at position 50
(P50L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000123317
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000043990]
[ENSMUST00000137245]
[ENSMUST00000142807]
|
| AlphaFold |
Q8K2D3 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000043990
AA Change: P50L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000049146
Gene: ENSMUSG00000038957
AA Change: P50L
| Domain | Start | End | E-Value | Type |
|---|
|
LSM14
|
1 |
80 |
9.12e-20 |
SMART |
|
Pfam:Edc3_linker
|
102 |
197 |
1.9e-47 |
PFAM |
|
FDF
|
198 |
301 |
1.84e-15 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000137245
AA Change: P50L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000123317
Gene: ENSMUSG00000038957
AA Change: P50L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:LSM14
|
1 |
56 |
3e-11 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000142807
AA Change: P50L
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000123505
Gene: ENSMUSG00000038957
AA Change: P50L
| Domain | Start | End | E-Value | Type |
|---|
|
LSM14
|
1 |
65 |
3.41e-10 |
SMART |
|
| Meta Mutation Damage Score |
0.8989 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.8%
|
| Validation Efficiency |
100% (39/39) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] EDC3 is associated with an mRNA-decapping complex required for removal of the 5-prime cap from mRNA prior to its degradation from the 5-prime end (Fenger-Gron et al., 2005 [PubMed 16364915]).[supplied by OMIM, Mar 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2200002D01Rik |
C |
T |
7: 28,947,687 (GRCm39) |
|
probably benign |
Het |
| Abcc6 |
A |
G |
7: 45,648,256 (GRCm39) |
|
probably benign |
Het |
| Adamts13 |
G |
A |
2: 26,894,794 (GRCm39) |
C1034Y |
probably damaging |
Het |
| Atp2b4 |
G |
T |
1: 133,667,669 (GRCm39) |
P125Q |
possibly damaging |
Het |
| Atp8b1 |
C |
T |
18: 64,697,608 (GRCm39) |
R412H |
probably damaging |
Het |
| Bicc1 |
ATGTG |
ATG |
10: 70,779,204 (GRCm39) |
|
probably null |
Het |
| Cap1 |
G |
A |
4: 122,756,780 (GRCm39) |
P302S |
probably benign |
Het |
| Chodl |
G |
T |
16: 78,741,546 (GRCm39) |
|
probably null |
Het |
| Cplane1 |
T |
A |
15: 8,300,229 (GRCm39) |
S3179T |
unknown |
Het |
| Cplx2 |
A |
T |
13: 54,526,630 (GRCm39) |
T13S |
probably benign |
Het |
| Dennd5a |
G |
A |
7: 109,495,550 (GRCm39) |
R1194W |
probably damaging |
Het |
| Dsc2 |
T |
A |
18: 20,183,214 (GRCm39) |
D68V |
probably damaging |
Het |
| Dus4l |
A |
C |
12: 31,698,827 (GRCm39) |
I59R |
probably damaging |
Het |
| Ext1 |
G |
A |
15: 52,970,987 (GRCm39) |
|
probably benign |
Het |
| Fam219a |
C |
T |
4: 41,518,844 (GRCm39) |
|
probably benign |
Het |
| Fbxl3 |
A |
T |
14: 103,329,749 (GRCm39) |
D106E |
probably damaging |
Het |
| Garem1 |
T |
C |
18: 21,369,172 (GRCm39) |
N50D |
possibly damaging |
Het |
| Gins1 |
G |
A |
2: 150,751,682 (GRCm39) |
R15H |
probably damaging |
Het |
| Glrx2 |
A |
G |
1: 143,617,418 (GRCm39) |
K44R |
possibly damaging |
Het |
| Icam1 |
A |
G |
9: 20,937,608 (GRCm39) |
D215G |
possibly damaging |
Het |
| Nedd9 |
A |
T |
13: 41,471,429 (GRCm39) |
I184N |
probably damaging |
Het |
| Or10a2 |
T |
C |
7: 106,673,799 (GRCm39) |
S255P |
probably damaging |
Het |
| Or1e21 |
T |
C |
11: 73,344,391 (GRCm39) |
M216V |
probably benign |
Het |
| Otulinl |
C |
T |
15: 27,664,429 (GRCm39) |
|
probably null |
Het |
| Rhot2 |
A |
G |
17: 26,061,065 (GRCm39) |
C147R |
probably damaging |
Het |
| Saxo4 |
T |
C |
19: 10,452,385 (GRCm39) |
Y375C |
probably damaging |
Het |
| Setd4 |
T |
C |
16: 93,380,574 (GRCm39) |
|
probably null |
Het |
| Slc6a4 |
A |
G |
11: 76,907,904 (GRCm39) |
N356S |
probably damaging |
Het |
| Tas2r136 |
C |
A |
6: 132,754,972 (GRCm39) |
V52L |
probably damaging |
Het |
| Tmem168 |
A |
C |
6: 13,595,072 (GRCm39) |
I381S |
probably benign |
Het |
| Tnfrsf11b |
T |
A |
15: 54,119,555 (GRCm39) |
T140S |
possibly damaging |
Het |
| Ttpa |
G |
T |
4: 20,023,827 (GRCm39) |
E130* |
probably null |
Het |
| Ubr5 |
A |
G |
15: 38,078,647 (GRCm39) |
V8A |
probably damaging |
Het |
| Vmn2r18 |
C |
T |
5: 151,496,368 (GRCm39) |
C450Y |
probably damaging |
Het |
| Vmn2r32 |
A |
T |
7: 7,482,857 (GRCm39) |
L39* |
probably null |
Het |
|
| Other mutations in Edc3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
trojaning
|
UTSW |
9 |
57,620,711 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Trojans
|
UTSW |
9 |
57,620,829 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0265:Edc3
|
UTSW |
9 |
57,634,621 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1720:Edc3
|
UTSW |
9 |
57,655,462 (GRCm39) |
splice site |
probably null |
|
|
R1802:Edc3
|
UTSW |
9 |
57,634,598 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2192:Edc3
|
UTSW |
9 |
57,620,826 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3911:Edc3
|
UTSW |
9 |
57,655,686 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R4819:Edc3
|
UTSW |
9 |
57,655,680 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R5841:Edc3
|
UTSW |
9 |
57,651,885 (GRCm39) |
missense |
probably benign |
0.04 |
|
R5969:Edc3
|
UTSW |
9 |
57,620,711 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6353:Edc3
|
UTSW |
9 |
57,623,520 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7705:Edc3
|
UTSW |
9 |
57,647,197 (GRCm39) |
missense |
probably benign |
0.36 |
|
R8011:Edc3
|
UTSW |
9 |
57,620,659 (GRCm39) |
splice site |
probably benign |
|
|
R8769:Edc3
|
UTSW |
9 |
57,634,678 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8878:Edc3
|
UTSW |
9 |
57,623,484 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R9055:Edc3
|
UTSW |
9 |
57,623,360 (GRCm39) |
missense |
probably benign |
0.01 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCACTGAGTATAGAGCCTGACAG -3'
(R):5'- ACAGCACTGTCTCCACTGAG -3'
Sequencing Primer
(F):5'- ATAGAGCCTGACAGACTTGGTTGC -3'
(R):5'- TGAGAACAACAGAACTCTATCTAAGG -3'
|
| Posted On |
2015-07-06 |
Incidental Mutation