Incidental Mutation 'R8373:Eri2'
| ID |
646541 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Eri2
|
| Ensembl Gene |
ENSMUSG00000030929 |
| Gene Name |
exoribonuclease 2 |
| Synonyms |
4933424N09Rik, Exod1 |
| MMRRC Submission |
067741-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.269)
|
| Stock # |
R8373 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
119768679-119794058 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 119772597 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Serine
at position 252
(I252S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000068633
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000063770]
[ENSMUST00000063902]
[ENSMUST00000106523]
[ENSMUST00000106526]
[ENSMUST00000106527]
[ENSMUST00000106528]
[ENSMUST00000106529]
|
| AlphaFold |
Q5BKS4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000063770
|
| SMART Domains |
Protein: ENSMUSP00000068803
Gene: ENSMUSG00000030935
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:AMP-binding
|
65 |
478 |
3.7e-86 |
PFAM |
|
Pfam:AMP-binding_C
|
486 |
566 |
1.8e-21 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000063902
AA Change: I252S
PolyPhen 2
Score 0.022 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000068633
Gene: ENSMUSG00000030929
AA Change: I252S
| Domain | Start | End | E-Value | Type |
|---|
|
EXOIII
|
36 |
235 |
1.41e-13 |
SMART |
|
transmembrane domain
|
245 |
262 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000106523
|
| SMART Domains |
Protein: ENSMUSP00000102133
Gene: ENSMUSG00000030929
| Domain | Start | End | E-Value | Type |
|---|
|
EXOIII
|
36 |
235 |
1.41e-13 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000106526
|
| SMART Domains |
Protein: ENSMUSP00000102136
Gene: ENSMUSG00000030935
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:AMP-binding
|
65 |
478 |
3.7e-86 |
PFAM |
|
Pfam:AMP-binding_C
|
486 |
566 |
1.8e-21 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000106527
|
| SMART Domains |
Protein: ENSMUSP00000102137
Gene: ENSMUSG00000030935
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:AMP-binding
|
65 |
478 |
3.7e-86 |
PFAM |
|
Pfam:AMP-binding_C
|
486 |
566 |
1.8e-21 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000106528
|
| SMART Domains |
Protein: ENSMUSP00000102138
Gene: ENSMUSG00000030935
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:AMP-binding
|
65 |
478 |
3.7e-86 |
PFAM |
|
Pfam:AMP-binding_C
|
486 |
566 |
1.8e-21 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000106529
|
| SMART Domains |
Protein: ENSMUSP00000102139
Gene: ENSMUSG00000030935
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:AMP-binding
|
65 |
478 |
1.1e-78 |
PFAM |
|
Pfam:AMP-binding_C
|
486 |
566 |
9.3e-23 |
PFAM |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.8%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrg6 |
T |
C |
10: 14,467,334 (GRCm38) |
T290A |
probably benign |
Het |
| Aff4 |
C |
T |
11: 53,400,267 (GRCm38) |
Q685* |
probably null |
Het |
| Ankmy1 |
A |
G |
1: 92,896,094 (GRCm38) |
M150T |
probably damaging |
Het |
| Armc1 |
T |
C |
3: 19,149,567 (GRCm38) |
Y65C |
probably damaging |
Het |
| Armc8 |
A |
G |
9: 99,527,099 (GRCm38) |
V222A |
probably benign |
Het |
| Bcar1 |
A |
T |
8: 111,715,738 (GRCm38) |
Y228* |
probably null |
Het |
| Cct2 |
T |
C |
10: 117,060,824 (GRCm38) |
D158G |
possibly damaging |
Het |
| Cul1 |
T |
A |
6: 47,515,063 (GRCm38) |
C426S |
possibly damaging |
Het |
| Deup1 |
G |
T |
9: 15,592,375 (GRCm38) |
L297M |
possibly damaging |
Het |
| Dpp10 |
A |
G |
1: 123,854,229 (GRCm38) |
S74P |
possibly damaging |
Het |
| Epha4 |
A |
G |
1: 77,507,079 (GRCm38) |
Y98H |
possibly damaging |
Het |
| Epn3 |
T |
G |
11: 94,492,936 (GRCm38) |
D296A |
probably damaging |
Het |
| Gp9 |
C |
T |
6: 87,779,012 (GRCm38) |
T3I |
probably benign |
Het |
| H2-Q5 |
T |
A |
17: 35,394,456 (GRCm38) |
V55E |
|
Het |
| Kif3c |
G |
T |
12: 3,366,089 (GRCm38) |
V37L |
probably benign |
Het |
| Lct |
A |
T |
1: 128,303,840 (GRCm38) |
N757K |
probably damaging |
Het |
| Lhx8 |
A |
C |
3: 154,324,658 (GRCm38) |
N112K |
probably damaging |
Het |
| Loxl3 |
T |
A |
6: 83,048,891 (GRCm38) |
S373R |
possibly damaging |
Het |
| Mettl4 |
G |
A |
17: 94,733,649 (GRCm38) |
T359I |
probably damaging |
Het |
| Mpp7 |
A |
G |
18: 7,444,096 (GRCm38) |
S109P |
probably damaging |
Het |
| Nckap5 |
A |
G |
1: 126,026,295 (GRCm38) |
V840A |
probably benign |
Het |
| Ncoa4 |
T |
A |
14: 32,176,936 (GRCm38) |
L571Q |
probably damaging |
Het |
| Or13a18 |
A |
T |
7: 140,610,295 (GRCm38) |
Y35F |
possibly damaging |
Het |
| Or2f1 |
T |
C |
6: 42,744,346 (GRCm38) |
F103S |
probably damaging |
Het |
| Phgdh |
G |
A |
3: 98,321,245 (GRCm38) |
T204I |
probably damaging |
Het |
| Pla2g4d |
C |
T |
2: 120,277,499 (GRCm38) |
V310M |
probably null |
Het |
| Prss3b |
T |
G |
6: 41,031,688 (GRCm38) |
T231P |
possibly damaging |
Het |
| Psmd12 |
C |
T |
11: 107,497,624 (GRCm38) |
P421L |
probably damaging |
Het |
| Ptch1 |
A |
G |
13: 63,541,168 (GRCm38) |
Y432H |
probably damaging |
Het |
| Rapgef1 |
G |
A |
2: 29,710,231 (GRCm38) |
G655S |
probably damaging |
Het |
| Rilpl2 |
C |
A |
5: 124,478,034 (GRCm38) |
A18S |
probably damaging |
Het |
| Srsf7 |
T |
C |
17: 80,205,386 (GRCm38) |
R88G |
probably benign |
Het |
| St6galnac1 |
T |
C |
11: 116,769,233 (GRCm38) |
K85E |
possibly damaging |
Het |
| Trip12 |
A |
T |
1: 84,795,767 (GRCm38) |
S49R |
probably damaging |
Het |
| Vinac1 |
T |
A |
2: 129,038,171 (GRCm38) |
I612F |
|
Het |
| Wdr48 |
A |
G |
9: 119,905,494 (GRCm38) |
T160A |
probably damaging |
Het |
| Zfp704 |
G |
A |
3: 9,609,442 (GRCm38) |
T93M |
unknown |
Het |
|
| Other mutations in Eri2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00417:Eri2
|
APN |
7 |
119,787,741 (GRCm38) |
missense |
probably benign |
0.44 |
|
IGL00987:Eri2
|
APN |
7 |
119,791,166 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01139:Eri2
|
APN |
7 |
119,786,737 (GRCm38) |
critical splice donor site |
probably null |
|
|
IGL01476:Eri2
|
APN |
7 |
119,790,249 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02019:Eri2
|
APN |
7 |
119,786,080 (GRCm38) |
nonsense |
probably null |
|
|
IGL02208:Eri2
|
APN |
7 |
119,785,935 (GRCm38) |
missense |
probably benign |
0.00 |
|
IGL02395:Eri2
|
APN |
7 |
119,787,810 (GRCm38) |
missense |
probably damaging |
0.98 |
|
IGL02405:Eri2
|
APN |
7 |
119,785,482 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02646:Eri2
|
APN |
7 |
119,786,108 (GRCm38) |
missense |
possibly damaging |
0.87 |
|
IGL02659:Eri2
|
APN |
7 |
119,787,442 (GRCm38) |
missense |
probably damaging |
0.98 |
|
alien
|
UTSW |
7 |
119,791,174 (GRCm38) |
missense |
probably damaging |
1.00 |
|
extraterrestrial
|
UTSW |
7 |
119,793,916 (GRCm38) |
critical splice donor site |
probably null |
|
|
G5030:Eri2
|
UTSW |
7 |
119,786,378 (GRCm38) |
missense |
possibly damaging |
0.58 |
|
K7894:Eri2
|
UTSW |
7 |
119,785,271 (GRCm38) |
missense |
probably benign |
0.39 |
|
PIT4434001:Eri2
|
UTSW |
7 |
119,786,301 (GRCm38) |
missense |
probably benign |
0.00 |
|
R0152:Eri2
|
UTSW |
7 |
119,790,383 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0378:Eri2
|
UTSW |
7 |
119,793,916 (GRCm38) |
critical splice donor site |
probably null |
|
|
R0532:Eri2
|
UTSW |
7 |
119,785,983 (GRCm38) |
missense |
probably benign |
0.22 |
|
R0630:Eri2
|
UTSW |
7 |
119,786,417 (GRCm38) |
missense |
probably benign |
0.27 |
|
R1192:Eri2
|
UTSW |
7 |
119,792,317 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1416:Eri2
|
UTSW |
7 |
119,791,174 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1884:Eri2
|
UTSW |
7 |
119,791,123 (GRCm38) |
missense |
probably benign |
0.12 |
|
R2173:Eri2
|
UTSW |
7 |
119,786,543 (GRCm38) |
missense |
possibly damaging |
0.67 |
|
R2961:Eri2
|
UTSW |
7 |
119,785,344 (GRCm38) |
missense |
probably benign |
|
|
R3805:Eri2
|
UTSW |
7 |
119,786,008 (GRCm38) |
nonsense |
probably null |
|
|
R3807:Eri2
|
UTSW |
7 |
119,786,008 (GRCm38) |
nonsense |
probably null |
|
|
R4534:Eri2
|
UTSW |
7 |
119,790,243 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4738:Eri2
|
UTSW |
7 |
119,787,732 (GRCm38) |
critical splice donor site |
probably null |
|
|
R4776:Eri2
|
UTSW |
7 |
119,784,946 (GRCm38) |
utr 3 prime |
probably benign |
|
|
R4780:Eri2
|
UTSW |
7 |
119,785,680 (GRCm38) |
missense |
probably benign |
0.43 |
|
R5037:Eri2
|
UTSW |
7 |
119,785,674 (GRCm38) |
missense |
probably benign |
|
|
R5260:Eri2
|
UTSW |
7 |
119,787,846 (GRCm38) |
splice site |
probably benign |
|
|
R5315:Eri2
|
UTSW |
7 |
119,786,018 (GRCm38) |
missense |
probably benign |
0.00 |
|
R5884:Eri2
|
UTSW |
7 |
119,772,329 (GRCm38) |
makesense |
probably null |
|
|
R5927:Eri2
|
UTSW |
7 |
119,786,068 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6937:Eri2
|
UTSW |
7 |
119,786,789 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R7296:Eri2
|
UTSW |
7 |
119,786,516 (GRCm38) |
nonsense |
probably null |
|
|
R7302:Eri2
|
UTSW |
7 |
119,786,786 (GRCm38) |
missense |
probably benign |
0.38 |
|
R7480:Eri2
|
UTSW |
7 |
119,786,511 (GRCm38) |
nonsense |
probably null |
|
|
R7494:Eri2
|
UTSW |
7 |
119,786,081 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R7524:Eri2
|
UTSW |
7 |
119,785,749 (GRCm38) |
missense |
probably benign |
0.00 |
|
R8187:Eri2
|
UTSW |
7 |
119,785,544 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8551:Eri2
|
UTSW |
7 |
119,787,839 (GRCm38) |
splice site |
probably null |
|
|
R9710:Eri2
|
UTSW |
7 |
119,785,601 (GRCm38) |
missense |
probably benign |
|
|
R9720:Eri2
|
UTSW |
7 |
119,787,753 (GRCm38) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CTAGGCTGCCACCAGAGG -3'
(R):5'- AGTTCCCACCCCTAGACAAGG -3'
Sequencing Primer
(F):5'- GCCCAAATTTCAGGTGGATC -3'
(R):5'- TAGCCCCTCCCAGGAATGAG -3'
|
| Posted On |
2020-09-02 |
Incidental Mutation