Incidental Mutation 'R4330:Eri1'
| ID |
324566 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Eri1
|
| Ensembl Gene |
ENSMUSG00000031527 |
| Gene Name |
exoribonuclease 1 |
| Synonyms |
Eri1, 3110010F15Rik, Thex1 |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R4330 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
35932419-35962687 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
G to A
at 35936383 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Stop codon
at position 313
(R313*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000033927
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000033927]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably null
Transcript: ENSMUST00000033927
AA Change: R313*
|
| SMART Domains |
Protein: ENSMUSP00000033927
Gene: ENSMUSG00000031527
AA Change: R313*
| Domain | Start | End | E-Value | Type |
|---|
|
SAP
|
72 |
106 |
1.24e-5 |
SMART |
|
EXOIII
|
125 |
311 |
4.63e-23 |
SMART |
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.8%
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Mice homozygous for a null allele exhibit postnatal lethality, decreased body size beginning at E15.5, and decreased proliferation of mouse embryonic fibroblasts. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 23 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam34l |
T |
A |
8: 44,079,287 (GRCm39) |
K312N |
probably benign |
Het |
| Arl6ip1 |
AAAATAAATAAATAAATAAATAAATA |
AAAATAAATAAATAAATAAATAAATAAATA |
7: 117,721,122 (GRCm39) |
|
probably benign |
Het |
| Cdh10 |
G |
A |
15: 19,000,045 (GRCm39) |
V497I |
probably damaging |
Het |
| Chd4 |
T |
C |
6: 125,078,565 (GRCm39) |
V229A |
probably benign |
Het |
| Cnr2 |
T |
A |
4: 135,644,237 (GRCm39) |
I105N |
possibly damaging |
Het |
| Dnai1 |
A |
G |
4: 41,637,966 (GRCm39) |
T701A |
probably damaging |
Het |
| Hrh3 |
T |
C |
2: 179,741,665 (GRCm39) |
|
probably benign |
Het |
| Hs3st5 |
T |
A |
10: 36,708,726 (GRCm39) |
V87D |
probably benign |
Het |
| Jmy |
G |
C |
13: 93,635,390 (GRCm39) |
P142R |
probably damaging |
Het |
| Jmy |
C |
A |
13: 93,635,781 (GRCm39) |
D12Y |
probably damaging |
Het |
| Mfsd4a |
A |
C |
1: 131,981,291 (GRCm39) |
M320R |
possibly damaging |
Het |
| Myocd |
A |
T |
11: 65,114,590 (GRCm39) |
H49Q |
probably benign |
Het |
| Nlk |
A |
G |
11: 78,481,774 (GRCm39) |
I229T |
possibly damaging |
Het |
| Rabl2 |
T |
C |
15: 89,471,137 (GRCm39) |
D66G |
probably benign |
Het |
| Ramp1 |
C |
T |
1: 91,151,067 (GRCm39) |
T144I |
possibly damaging |
Het |
| Rhbdf2 |
T |
C |
11: 116,492,782 (GRCm39) |
K413R |
probably benign |
Het |
| Scpep1 |
G |
A |
11: 88,826,729 (GRCm39) |
Q236* |
probably null |
Het |
| Stil |
A |
G |
4: 114,862,176 (GRCm39) |
R40G |
probably damaging |
Het |
| Syt7 |
T |
C |
19: 10,399,162 (GRCm39) |
V86A |
probably damaging |
Het |
| Ubr2 |
A |
T |
17: 47,278,204 (GRCm39) |
L711Q |
probably null |
Het |
| Vmn1r78 |
T |
A |
7: 11,886,386 (GRCm39) |
|
probably null |
Het |
| Zfp280d |
C |
T |
9: 72,203,261 (GRCm39) |
T3I |
possibly damaging |
Het |
| Zscan25 |
T |
A |
5: 145,227,361 (GRCm39) |
F342I |
probably damaging |
Het |
|
| Other mutations in Eri1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00990:Eri1
|
APN |
8 |
35,949,800 (GRCm39) |
missense |
probably benign |
|
|
IGL00990:Eri1
|
APN |
8 |
35,949,836 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
IGL01732:Eri1
|
APN |
8 |
35,958,397 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R1467:Eri1
|
UTSW |
8 |
35,936,284 (GRCm39) |
makesense |
probably null |
|
|
R1467:Eri1
|
UTSW |
8 |
35,936,284 (GRCm39) |
makesense |
probably null |
|
|
R1496:Eri1
|
UTSW |
8 |
35,936,335 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R2431:Eri1
|
UTSW |
8 |
35,943,632 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3862:Eri1
|
UTSW |
8 |
35,958,448 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R4831:Eri1
|
UTSW |
8 |
35,943,673 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R5524:Eri1
|
UTSW |
8 |
35,945,763 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6594:Eri1
|
UTSW |
8 |
35,949,687 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7043:Eri1
|
UTSW |
8 |
35,945,792 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7101:Eri1
|
UTSW |
8 |
35,949,777 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7626:Eri1
|
UTSW |
8 |
35,941,554 (GRCm39) |
nonsense |
probably null |
|
|
R8817:Eri1
|
UTSW |
8 |
35,945,792 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGCATACATACCCATCTATCTGTAAT -3'
(R):5'- CGAGTTCTTAATTACTTACTTGGTTCT -3'
Sequencing Primer
(F):5'- CTTAAATGTTTAAGGTGCTTGAAGG -3'
(R):5'- TTTGTTTTCTAGGTTCCCAGAAGC -3'
|
| Posted On |
2015-06-24 |
Incidental Mutation