Incidental Mutation 'IGL02019:Eri2'
| ID |
183888 |
| 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 # |
IGL02019
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
119383049-119393283 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
A to T
at 119385303 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Stop codon
at position 399
(C399*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000120547
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000033224]
[ENSMUST00000063770]
[ENSMUST00000063902]
[ENSMUST00000106523]
[ENSMUST00000106526]
[ENSMUST00000106527]
[ENSMUST00000106528]
[ENSMUST00000150844]
[ENSMUST00000106529]
[ENSMUST00000139192]
|
| 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 null
Transcript: ENSMUST00000150844
AA Change: C399*
|
| SMART Domains |
Protein: ENSMUSP00000120547
Gene: ENSMUSG00000030929
AA Change: C399*
| 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: ENSMUST00000133926
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000125595
|
| 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 benign
Transcript: ENSMUST00000139192
|
| SMART Domains |
Protein: ENSMUSP00000117940
Gene: ENSMUSG00000030929
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:RNase_T
|
21 |
160 |
1.2e-13 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930519G04Rik |
C |
T |
5: 115,017,645 (GRCm39) |
A178V |
possibly damaging |
Het |
| Acad11 |
A |
G |
9: 103,992,544 (GRCm39) |
I495M |
probably damaging |
Het |
| Adgrd1 |
T |
C |
5: 129,192,202 (GRCm39) |
S91P |
probably benign |
Het |
| Agk |
A |
G |
6: 40,353,160 (GRCm39) |
I175V |
probably damaging |
Het |
| Ascc3 |
A |
T |
10: 50,566,235 (GRCm39) |
N727Y |
probably damaging |
Het |
| Atrnl1 |
A |
T |
19: 57,680,195 (GRCm39) |
|
probably benign |
Het |
| B4galt3 |
G |
A |
1: 171,099,362 (GRCm39) |
G42D |
probably damaging |
Het |
| Brd10 |
A |
T |
19: 29,694,463 (GRCm39) |
S976T |
probably benign |
Het |
| Brip1 |
C |
T |
11: 86,088,775 (GRCm39) |
C42Y |
possibly damaging |
Het |
| Camkk1 |
T |
C |
11: 72,928,027 (GRCm39) |
F233L |
probably damaging |
Het |
| Cd300ld |
A |
T |
11: 114,878,227 (GRCm39) |
M95K |
probably damaging |
Het |
| Cdv3 |
A |
G |
9: 103,237,224 (GRCm39) |
|
probably benign |
Het |
| Cog3 |
G |
T |
14: 75,968,044 (GRCm39) |
Q430K |
possibly damaging |
Het |
| D6Wsu163e |
G |
A |
6: 126,932,184 (GRCm39) |
G308S |
probably damaging |
Het |
| Dnah2 |
A |
G |
11: 69,365,111 (GRCm39) |
M1951T |
probably damaging |
Het |
| Elavl3 |
G |
A |
9: 21,948,014 (GRCm39) |
T51I |
probably damaging |
Het |
| Ezh2 |
A |
T |
6: 47,528,835 (GRCm39) |
|
probably null |
Het |
| Fgd6 |
C |
A |
10: 93,969,216 (GRCm39) |
T1161K |
probably damaging |
Het |
| Gbf1 |
A |
T |
19: 46,267,731 (GRCm39) |
H1193L |
possibly damaging |
Het |
| Gbp2b |
T |
A |
3: 142,312,751 (GRCm39) |
F378Y |
possibly damaging |
Het |
| Hectd2 |
G |
A |
19: 36,592,916 (GRCm39) |
V694M |
possibly damaging |
Het |
| Hook1 |
T |
A |
4: 95,910,434 (GRCm39) |
S683T |
probably benign |
Het |
| Ifi202b |
G |
A |
1: 173,802,550 (GRCm39) |
R95C |
possibly damaging |
Het |
| Kdm8 |
G |
T |
7: 125,051,658 (GRCm39) |
V84L |
probably damaging |
Het |
| Kifc3 |
G |
A |
8: 95,834,168 (GRCm39) |
|
probably benign |
Het |
| Krt26 |
C |
T |
11: 99,224,471 (GRCm39) |
R349Q |
probably benign |
Het |
| Lrig1 |
G |
T |
6: 94,593,410 (GRCm39) |
Q424K |
probably damaging |
Het |
| Lrriq1 |
A |
T |
10: 103,014,661 (GRCm39) |
M1049K |
probably benign |
Het |
| Mcidas |
A |
G |
13: 113,133,377 (GRCm39) |
N103D |
probably benign |
Het |
| Mdn1 |
T |
C |
4: 32,749,948 (GRCm39) |
L4377S |
possibly damaging |
Het |
| Mrpl41 |
T |
C |
2: 24,864,429 (GRCm39) |
D81G |
possibly damaging |
Het |
| Mug2 |
G |
A |
6: 122,024,394 (GRCm39) |
V489I |
probably benign |
Het |
| P2rx5 |
G |
T |
11: 73,058,803 (GRCm39) |
|
probably benign |
Het |
| Pfas |
A |
T |
11: 68,884,289 (GRCm39) |
|
probably benign |
Het |
| Pknox2 |
A |
G |
9: 36,834,929 (GRCm39) |
L180P |
probably damaging |
Het |
| Psmd5 |
C |
A |
2: 34,744,286 (GRCm39) |
C412F |
probably benign |
Het |
| Rbks |
T |
A |
5: 31,817,361 (GRCm39) |
D136V |
probably damaging |
Het |
| Rgl1 |
A |
G |
1: 152,404,220 (GRCm39) |
|
probably benign |
Het |
| Scube3 |
A |
G |
17: 28,386,658 (GRCm39) |
D721G |
probably damaging |
Het |
| Snrnp200 |
T |
A |
2: 127,074,825 (GRCm39) |
V1466D |
possibly damaging |
Het |
| Stambp |
A |
T |
6: 83,529,013 (GRCm39) |
L344Q |
probably damaging |
Het |
| Tctn1 |
A |
T |
5: 122,396,912 (GRCm39) |
I157N |
probably damaging |
Het |
| Top2b |
T |
A |
14: 16,409,965 (GRCm38) |
D877E |
probably benign |
Het |
| Vmn1r78 |
G |
A |
7: 11,886,634 (GRCm39) |
G82S |
probably damaging |
Het |
| Vnn1 |
T |
C |
10: 23,779,449 (GRCm39) |
F453L |
possibly damaging |
Het |
| Wdr38 |
A |
T |
2: 38,888,424 (GRCm39) |
N7I |
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 |
|
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 |
2014-05-07 |
Incidental Mutation