Incidental Mutation 'IGL02208:Eri2'
| ID |
284590 |
| 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 # |
IGL02208
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
119383049-119393283 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 119385158 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Serine
at position 448
(P448S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000120547
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000033224]
[ENSMUST00000063770]
[ENSMUST00000063902]
[ENSMUST00000106523]
[ENSMUST00000106526]
[ENSMUST00000106527]
[ENSMUST00000106528]
[ENSMUST00000150844]
[ENSMUST00000139192]
[ENSMUST00000106529]
|
| AlphaFold |
Q5BKS4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000033224
|
| 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
|
| SMART Domains |
Protein: ENSMUSP00000068633
Gene: ENSMUSG00000030929
| 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: ENSMUST00000150844
AA Change: P448S
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000120547
Gene: ENSMUSG00000030929
AA Change: P448S
| 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 |
noncoding transcript
Transcript: ENSMUST00000154828
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000125595
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133926
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149598
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000139192
|
| SMART Domains |
Protein: ENSMUSP00000117940
Gene: ENSMUSG00000030929
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:RNase_T
|
21 |
160 |
1.2e-13 |
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 |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca8a |
A |
G |
11: 109,950,772 (GRCm39) |
Y898H |
probably damaging |
Het |
| Abr |
T |
C |
11: 76,346,471 (GRCm39) |
T484A |
probably damaging |
Het |
| Ahsg |
G |
A |
16: 22,711,060 (GRCm39) |
V66I |
possibly damaging |
Het |
| Arhgef5 |
T |
G |
6: 43,252,064 (GRCm39) |
D938E |
probably benign |
Het |
| Asap1 |
T |
A |
15: 63,993,882 (GRCm39) |
E731V |
probably damaging |
Het |
| Cdca2 |
C |
T |
14: 67,950,589 (GRCm39) |
R114Q |
probably damaging |
Het |
| Dock5 |
A |
G |
14: 68,065,899 (GRCm39) |
I368T |
probably benign |
Het |
| Dse |
T |
A |
10: 34,028,433 (GRCm39) |
M886L |
probably benign |
Het |
| Efcab11 |
A |
G |
12: 99,820,861 (GRCm39) |
|
probably benign |
Het |
| Iffo1 |
A |
G |
6: 125,122,329 (GRCm39) |
D37G |
possibly damaging |
Het |
| Lrrc39 |
A |
T |
3: 116,371,923 (GRCm39) |
Q230L |
probably damaging |
Het |
| Macrod2 |
C |
A |
2: 142,216,196 (GRCm39) |
S443Y |
possibly damaging |
Het |
| Map4 |
T |
A |
9: 109,807,938 (GRCm39) |
M1K |
probably null |
Het |
| Misfa |
T |
C |
7: 46,633,572 (GRCm39) |
|
probably benign |
Het |
| Myh4 |
G |
A |
11: 67,142,760 (GRCm39) |
A974T |
possibly damaging |
Het |
| Npm3 |
T |
C |
19: 45,737,299 (GRCm39) |
T72A |
probably benign |
Het |
| Or14j1 |
T |
C |
17: 38,146,415 (GRCm39) |
F175S |
probably damaging |
Het |
| P3h4 |
T |
C |
11: 100,304,901 (GRCm39) |
N162S |
probably damaging |
Het |
| Pcnx2 |
G |
T |
8: 126,478,894 (GRCm39) |
T2118N |
probably benign |
Het |
| Pla2r1 |
G |
T |
2: 60,258,932 (GRCm39) |
P1152Q |
possibly damaging |
Het |
| Pole2 |
C |
T |
12: 69,269,936 (GRCm39) |
E63K |
possibly damaging |
Het |
| Polr3e |
T |
A |
7: 120,531,363 (GRCm39) |
F151I |
probably damaging |
Het |
| Prdm2 |
T |
C |
4: 142,862,313 (GRCm39) |
T326A |
probably benign |
Het |
| Prdm8 |
G |
T |
5: 98,331,324 (GRCm39) |
A59S |
possibly damaging |
Het |
| Reps1 |
A |
G |
10: 17,994,770 (GRCm39) |
N538S |
probably damaging |
Het |
| Scube1 |
T |
C |
15: 83,587,741 (GRCm39) |
D76G |
probably damaging |
Het |
| Senp6 |
T |
C |
9: 80,021,225 (GRCm39) |
F302L |
probably damaging |
Het |
| Skic2 |
A |
T |
17: 35,060,651 (GRCm39) |
I822N |
probably damaging |
Het |
| Slc17a7 |
T |
C |
7: 44,820,367 (GRCm39) |
I299T |
probably damaging |
Het |
| Slc25a26 |
T |
A |
6: 94,484,520 (GRCm39) |
V20E |
probably damaging |
Het |
| Spem2 |
T |
C |
11: 69,708,089 (GRCm39) |
|
probably null |
Het |
| Stat5b |
A |
C |
11: 100,695,739 (GRCm39) |
F81C |
probably damaging |
Het |
| Taf6 |
A |
T |
5: 138,179,169 (GRCm39) |
V423E |
probably damaging |
Het |
| Tcaf2 |
T |
A |
6: 42,606,020 (GRCm39) |
Y551F |
probably damaging |
Het |
| Tgm6 |
A |
T |
2: 129,977,790 (GRCm39) |
D43V |
probably benign |
Het |
| Tubb3 |
G |
T |
8: 124,147,603 (GRCm39) |
V179L |
probably damaging |
Het |
| Ubr1 |
G |
A |
2: 120,776,830 (GRCm39) |
H304Y |
probably benign |
Het |
| Vmn2r56 |
T |
G |
7: 12,449,408 (GRCm39) |
M277L |
probably benign |
Het |
| Wdr72 |
G |
A |
9: 74,064,581 (GRCm39) |
V538M |
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 |
|
IGL00987:Eri2
|
APN |
7 |
119,390,389 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
|
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 |
2015-04-16 |
Incidental Mutation