Incidental Mutation 'IGL00987:Eri2'
ID |
27962 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Eri2
|
Ensembl Gene |
ENSMUSG00000030929 |
Gene Name |
exoribonuclease 2 |
Synonyms |
Exod1, 4933424N09Rik |
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.251)
|
Stock # |
IGL00987
|
Quality Score |
|
Status
|
|
Chromosome |
7 |
Chromosomal Location |
119383049-119393283 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 119390389 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Histidine
at position 80
(Y80H)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000068633
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000033218]
[ENSMUST00000033224]
[ENSMUST00000063902]
[ENSMUST00000084644]
[ENSMUST00000106520]
[ENSMUST00000106523]
[ENSMUST00000106529]
[ENSMUST00000150844]
[ENSMUST00000139192]
[ENSMUST00000133758]
|
AlphaFold |
Q5BKS4 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000033218
|
SMART Domains |
Protein: ENSMUSP00000033218 Gene: ENSMUSG00000030924
Domain | Start | End | E-Value | Type |
low complexity region
|
105 |
116 |
N/A |
INTRINSIC |
low complexity region
|
123 |
134 |
N/A |
INTRINSIC |
Pfam:RNase_T
|
225 |
330 |
1.4e-12 |
PFAM |
Blast:RRM
|
424 |
463 |
5e-17 |
BLAST |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000033224
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000063902
AA Change: Y80H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000068633 Gene: ENSMUSG00000030929 AA Change: Y80H
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: ENSMUST00000084644
|
SMART Domains |
Protein: ENSMUSP00000081694 Gene: ENSMUSG00000030924
Domain | Start | End | E-Value | Type |
EXOIII
|
31 |
189 |
2.72e-29 |
SMART |
RRM
|
298 |
367 |
3.23e-9 |
SMART |
Blast:RRM
|
393 |
437 |
2e-22 |
BLAST |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000106520
|
SMART Domains |
Protein: ENSMUSP00000102130 Gene: ENSMUSG00000030924
Domain | Start | End | E-Value | Type |
low complexity region
|
105 |
116 |
N/A |
INTRINSIC |
low complexity region
|
123 |
134 |
N/A |
INTRINSIC |
EXOIII
|
223 |
381 |
2.72e-29 |
SMART |
RRM
|
491 |
560 |
3.23e-9 |
SMART |
RRM
|
586 |
661 |
3.28e-2 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000106523
AA Change: Y80H
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000102133 Gene: ENSMUSG00000030929 AA Change: Y80H
Domain | Start | End | E-Value | Type |
EXOIII
|
36 |
235 |
1.41e-13 |
SMART |
|
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 |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000150844
AA Change: Y80H
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000120547 Gene: ENSMUSG00000030929 AA Change: Y80H
Domain | Start | End | E-Value | Type |
EXOIII
|
36 |
235 |
1.41e-13 |
SMART |
low complexity region
|
362 |
381 |
N/A |
INTRINSIC |
Pfam:zf-GRF
|
592 |
640 |
1.4e-21 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000139192
AA Change: Y52H
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000117940 Gene: ENSMUSG00000030929 AA Change: Y52H
Domain | Start | End | E-Value | Type |
Pfam:RNase_T
|
21 |
160 |
1.2e-13 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133926
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000125595
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000137015
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000133758
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 33 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acot9 |
T |
C |
X: 154,078,177 (GRCm39) |
I241T |
probably benign |
Het |
Atp5mc3 |
T |
A |
2: 73,740,270 (GRCm39) |
R19* |
probably null |
Het |
Celf4 |
T |
C |
18: 25,620,007 (GRCm39) |
D420G |
probably damaging |
Het |
Cideb |
C |
A |
14: 55,992,017 (GRCm39) |
R179L |
possibly damaging |
Het |
Cmtr1 |
G |
A |
17: 29,916,143 (GRCm39) |
R591H |
probably benign |
Het |
Dync1li2 |
A |
T |
8: 105,169,130 (GRCm39) |
S34T |
possibly damaging |
Het |
Eya2 |
A |
G |
2: 165,596,401 (GRCm39) |
E304G |
probably damaging |
Het |
Fam135a |
A |
C |
1: 24,094,979 (GRCm39) |
L130V |
probably damaging |
Het |
Fancb |
A |
T |
X: 163,774,594 (GRCm39) |
K410N |
probably damaging |
Het |
Gabpb2 |
A |
C |
3: 95,107,502 (GRCm39) |
V191G |
probably damaging |
Het |
Gfm1 |
A |
G |
3: 67,345,893 (GRCm39) |
H197R |
possibly damaging |
Het |
Gm11595 |
A |
G |
11: 99,663,365 (GRCm39) |
V105A |
unknown |
Het |
Hectd3 |
T |
A |
4: 116,856,840 (GRCm39) |
D462E |
probably damaging |
Het |
Herc1 |
G |
T |
9: 66,315,334 (GRCm39) |
V1139L |
probably benign |
Het |
Itgal |
T |
C |
7: 126,901,183 (GRCm39) |
F190L |
probably damaging |
Het |
Krt87 |
G |
A |
15: 101,336,327 (GRCm39) |
H109Y |
probably benign |
Het |
Lmf2 |
T |
C |
15: 89,238,771 (GRCm39) |
Y115C |
probably benign |
Het |
Papolg |
T |
A |
11: 23,826,377 (GRCm39) |
Y259F |
possibly damaging |
Het |
Parn |
T |
C |
16: 13,485,467 (GRCm39) |
I10V |
probably benign |
Het |
Pdcd11 |
T |
A |
19: 47,102,989 (GRCm39) |
|
probably benign |
Het |
Phldb2 |
T |
A |
16: 45,583,465 (GRCm39) |
Q1003L |
possibly damaging |
Het |
Pigg |
T |
A |
5: 108,489,944 (GRCm39) |
F850I |
probably damaging |
Het |
Pkp4 |
T |
C |
2: 59,138,701 (GRCm39) |
L317P |
probably damaging |
Het |
Polr2a |
T |
C |
11: 69,634,620 (GRCm39) |
|
probably benign |
Het |
Prdm16 |
G |
A |
4: 154,426,426 (GRCm39) |
T453M |
possibly damaging |
Het |
Rnf144b |
A |
T |
13: 47,360,969 (GRCm39) |
E36D |
possibly damaging |
Het |
Ryr2 |
G |
A |
13: 11,750,388 (GRCm39) |
T1961I |
probably damaging |
Het |
Sash1 |
T |
A |
10: 8,627,177 (GRCm39) |
K305I |
probably damaging |
Het |
Tbc1d7 |
A |
T |
13: 43,312,797 (GRCm39) |
I32N |
probably damaging |
Het |
Thop1 |
T |
C |
10: 80,917,529 (GRCm39) |
F623L |
probably damaging |
Het |
Thsd7b |
G |
A |
1: 129,541,016 (GRCm39) |
G297R |
probably damaging |
Het |
Tln1 |
C |
A |
4: 43,551,297 (GRCm39) |
|
probably benign |
Het |
Vmn1r183 |
A |
G |
7: 23,754,649 (GRCm39) |
N151D |
probably damaging |
Het |
|
Other mutations in Eri2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00417:Eri2
|
APN |
7 |
119,386,964 (GRCm39) |
missense |
probably benign |
0.44 |
IGL01139:Eri2
|
APN |
7 |
119,385,960 (GRCm39) |
critical splice donor site |
probably null |
|
IGL01476:Eri2
|
APN |
7 |
119,389,472 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02019:Eri2
|
APN |
7 |
119,385,303 (GRCm39) |
nonsense |
probably null |
|
IGL02208:Eri2
|
APN |
7 |
119,385,158 (GRCm39) |
missense |
probably benign |
0.00 |
IGL02395:Eri2
|
APN |
7 |
119,387,033 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL02405:Eri2
|
APN |
7 |
119,384,705 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02646:Eri2
|
APN |
7 |
119,385,331 (GRCm39) |
missense |
possibly damaging |
0.87 |
IGL02659:Eri2
|
APN |
7 |
119,386,665 (GRCm39) |
missense |
probably damaging |
0.98 |
alien
|
UTSW |
7 |
119,390,397 (GRCm39) |
missense |
probably damaging |
1.00 |
extraterrestrial
|
UTSW |
7 |
119,393,139 (GRCm39) |
critical splice donor site |
probably null |
|
G5030:Eri2
|
UTSW |
7 |
119,385,601 (GRCm39) |
missense |
possibly damaging |
0.58 |
K7894:Eri2
|
UTSW |
7 |
119,384,494 (GRCm39) |
missense |
probably benign |
0.39 |
PIT4434001:Eri2
|
UTSW |
7 |
119,385,524 (GRCm39) |
missense |
probably benign |
0.00 |
R0152:Eri2
|
UTSW |
7 |
119,389,606 (GRCm39) |
missense |
probably damaging |
1.00 |
R0378:Eri2
|
UTSW |
7 |
119,393,139 (GRCm39) |
critical splice donor site |
probably null |
|
R0532:Eri2
|
UTSW |
7 |
119,385,206 (GRCm39) |
missense |
probably benign |
0.22 |
R0630:Eri2
|
UTSW |
7 |
119,385,640 (GRCm39) |
missense |
probably benign |
0.27 |
R1192:Eri2
|
UTSW |
7 |
119,391,540 (GRCm39) |
missense |
probably damaging |
1.00 |
R1416:Eri2
|
UTSW |
7 |
119,390,397 (GRCm39) |
missense |
probably damaging |
1.00 |
R1884:Eri2
|
UTSW |
7 |
119,390,346 (GRCm39) |
missense |
probably benign |
0.12 |
R2173:Eri2
|
UTSW |
7 |
119,385,766 (GRCm39) |
missense |
possibly damaging |
0.67 |
R2961:Eri2
|
UTSW |
7 |
119,384,567 (GRCm39) |
missense |
probably benign |
|
R3805:Eri2
|
UTSW |
7 |
119,385,231 (GRCm39) |
nonsense |
probably null |
|
R3807:Eri2
|
UTSW |
7 |
119,385,231 (GRCm39) |
nonsense |
probably null |
|
R4534:Eri2
|
UTSW |
7 |
119,389,466 (GRCm39) |
missense |
probably damaging |
1.00 |
R4738:Eri2
|
UTSW |
7 |
119,386,955 (GRCm39) |
critical splice donor site |
probably null |
|
R4776:Eri2
|
UTSW |
7 |
119,384,169 (GRCm39) |
utr 3 prime |
probably benign |
|
R4780:Eri2
|
UTSW |
7 |
119,384,903 (GRCm39) |
missense |
probably benign |
0.43 |
R5037:Eri2
|
UTSW |
7 |
119,384,897 (GRCm39) |
missense |
probably benign |
|
R5260:Eri2
|
UTSW |
7 |
119,387,069 (GRCm39) |
splice site |
probably benign |
|
R5315:Eri2
|
UTSW |
7 |
119,385,241 (GRCm39) |
missense |
probably benign |
0.00 |
R5884:Eri2
|
UTSW |
7 |
119,371,552 (GRCm39) |
makesense |
probably null |
|
R5927:Eri2
|
UTSW |
7 |
119,385,291 (GRCm39) |
missense |
probably damaging |
1.00 |
R6937:Eri2
|
UTSW |
7 |
119,386,012 (GRCm39) |
missense |
probably damaging |
0.96 |
R7296:Eri2
|
UTSW |
7 |
119,385,739 (GRCm39) |
nonsense |
probably null |
|
R7302:Eri2
|
UTSW |
7 |
119,386,009 (GRCm39) |
missense |
probably benign |
0.38 |
R7480:Eri2
|
UTSW |
7 |
119,385,734 (GRCm39) |
nonsense |
probably null |
|
R7494:Eri2
|
UTSW |
7 |
119,385,304 (GRCm39) |
missense |
probably damaging |
0.99 |
R7524:Eri2
|
UTSW |
7 |
119,384,972 (GRCm39) |
missense |
probably benign |
0.00 |
R8187:Eri2
|
UTSW |
7 |
119,384,767 (GRCm39) |
missense |
probably damaging |
1.00 |
R8373:Eri2
|
UTSW |
7 |
119,371,820 (GRCm39) |
missense |
probably benign |
0.02 |
R8551:Eri2
|
UTSW |
7 |
119,387,062 (GRCm39) |
splice site |
probably null |
|
R9710:Eri2
|
UTSW |
7 |
119,384,824 (GRCm39) |
missense |
probably benign |
|
R9720:Eri2
|
UTSW |
7 |
119,386,976 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Posted On |
2013-04-17 |