Incidental Mutation 'IGL01392:Eri3'
| ID |
79270 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Eri3
|
| Ensembl Gene |
ENSMUSG00000033423 |
| Gene Name |
exoribonuclease 3 |
| Synonyms |
PINT1, Prnpip1 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL01392
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
117407562-117531494 bp(+) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
T to C
at 117446356 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000115520
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037127]
[ENSMUST00000125312]
|
| AlphaFold |
Q8C460 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000037127
|
| SMART Domains |
Protein: ENSMUSP00000042796
Gene: ENSMUSG00000033423
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
23 |
35 |
N/A |
INTRINSIC |
|
low complexity region
|
124 |
135 |
N/A |
INTRINSIC |
|
EXOIII
|
145 |
329 |
1.17e-42 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000125312
|
| SMART Domains |
Protein: ENSMUSP00000115520
Gene: ENSMUSG00000033423
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:RNase_T
|
1 |
100 |
3.5e-17 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134453
|
| SMART Domains |
Protein: ENSMUSP00000122891
Gene: ENSMUSG00000033423
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:RNase_T
|
1 |
68 |
9.5e-8 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146384
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acvr1 |
A |
G |
2: 58,390,558 (GRCm39) |
V2A |
probably benign |
Het |
| Adgrf5 |
A |
T |
17: 43,760,903 (GRCm39) |
Q866L |
probably benign |
Het |
| Ankrd13a |
A |
G |
5: 114,935,914 (GRCm39) |
E295G |
probably benign |
Het |
| Arid1a |
T |
C |
4: 133,408,348 (GRCm39) |
D2053G |
unknown |
Het |
| Calr4 |
A |
G |
4: 109,111,071 (GRCm39) |
E272G |
probably benign |
Het |
| Cmya5 |
T |
C |
13: 93,225,714 (GRCm39) |
S3125G |
probably damaging |
Het |
| Dnah7b |
T |
C |
1: 46,165,948 (GRCm39) |
Y538H |
probably damaging |
Het |
| Fmo6 |
T |
A |
1: 162,757,580 (GRCm39) |
R63* |
probably null |
Het |
| Gm7168 |
G |
A |
17: 14,169,169 (GRCm39) |
D179N |
probably benign |
Het |
| Got1l1 |
T |
C |
8: 27,688,019 (GRCm39) |
T337A |
probably damaging |
Het |
| Gvin-ps3 |
T |
C |
7: 105,682,962 (GRCm39) |
I98V |
probably benign |
Het |
| Igf2r |
A |
G |
17: 12,923,236 (GRCm39) |
M1191T |
probably benign |
Het |
| Ighv1-54 |
A |
G |
12: 115,157,557 (GRCm39) |
L30P |
probably damaging |
Het |
| Igkv8-30 |
A |
G |
6: 70,094,331 (GRCm39) |
S27P |
probably benign |
Het |
| Kcnab2 |
A |
T |
4: 152,478,254 (GRCm39) |
V335E |
possibly damaging |
Het |
| Klf12 |
A |
T |
14: 100,387,193 (GRCm39) |
I3N |
probably damaging |
Het |
| Megf8 |
T |
C |
7: 25,063,174 (GRCm39) |
V2510A |
probably benign |
Het |
| Mme |
A |
G |
3: 63,269,467 (GRCm39) |
D592G |
probably damaging |
Het |
| Myh1 |
A |
G |
11: 67,112,127 (GRCm39) |
N1727S |
probably benign |
Het |
| Ncor1 |
A |
G |
11: 62,231,420 (GRCm39) |
S796P |
probably damaging |
Het |
| Nlrp14 |
A |
G |
7: 106,797,120 (GRCm39) |
|
probably benign |
Het |
| Or51f23 |
T |
A |
7: 102,453,061 (GRCm39) |
Y125* |
probably null |
Het |
| Or5b95 |
T |
A |
19: 12,658,167 (GRCm39) |
Y232N |
probably benign |
Het |
| Or5p80 |
C |
T |
7: 108,229,885 (GRCm39) |
R229C |
probably benign |
Het |
| Plekhm2 |
A |
G |
4: 141,369,737 (GRCm39) |
V86A |
probably damaging |
Het |
| Popdc2 |
G |
T |
16: 38,194,493 (GRCm39) |
V305L |
probably benign |
Het |
| Prb1b |
T |
C |
6: 132,289,383 (GRCm39) |
N147S |
unknown |
Het |
| Rttn |
C |
T |
18: 89,013,737 (GRCm39) |
H469Y |
probably benign |
Het |
| Slc2a12 |
T |
C |
10: 22,540,583 (GRCm39) |
V146A |
probably damaging |
Het |
| Sptlc3 |
A |
G |
2: 139,388,341 (GRCm39) |
E111G |
possibly damaging |
Het |
| Zfp108 |
T |
C |
7: 23,957,872 (GRCm39) |
|
probably benign |
Het |
| Zfp719 |
T |
A |
7: 43,240,554 (GRCm39) |
F714Y |
probably damaging |
Het |
|
| Other mutations in Eri3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00678:Eri3
|
APN |
4 |
117,422,088 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01781:Eri3
|
APN |
4 |
117,421,874 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02737:Eri3
|
APN |
4 |
117,422,057 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02969:Eri3
|
APN |
4 |
117,506,508 (GRCm39) |
missense |
probably damaging |
1.00 |
|
chewed_out
|
UTSW |
4 |
117,506,604 (GRCm39) |
critical splice donor site |
probably null |
|
|
PIT4280001:Eri3
|
UTSW |
4 |
117,439,831 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0720:Eri3
|
UTSW |
4 |
117,410,242 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0993:Eri3
|
UTSW |
4 |
117,421,860 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R1331:Eri3
|
UTSW |
4 |
117,422,104 (GRCm39) |
splice site |
probably benign |
|
|
R1538:Eri3
|
UTSW |
4 |
117,439,836 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R1854:Eri3
|
UTSW |
4 |
117,506,562 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1971:Eri3
|
UTSW |
4 |
117,421,964 (GRCm39) |
missense |
probably benign |
0.10 |
|
R5340:Eri3
|
UTSW |
4 |
117,530,991 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5511:Eri3
|
UTSW |
4 |
117,472,386 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R5569:Eri3
|
UTSW |
4 |
117,506,553 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R6052:Eri3
|
UTSW |
4 |
117,421,825 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7140:Eri3
|
UTSW |
4 |
117,506,604 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7187:Eri3
|
UTSW |
4 |
117,446,343 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7268:Eri3
|
UTSW |
4 |
117,506,580 (GRCm39) |
missense |
probably benign |
|
|
R8083:Eri3
|
UTSW |
4 |
117,450,359 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8557:Eri3
|
UTSW |
4 |
117,472,520 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R9430:Eri3
|
UTSW |
4 |
117,439,868 (GRCm39) |
nonsense |
probably null |
|
|
R9563:Eri3
|
UTSW |
4 |
117,422,013 (GRCm39) |
missense |
probably benign |
0.15 |
|
R9565:Eri3
|
UTSW |
4 |
117,422,013 (GRCm39) |
missense |
probably benign |
0.15 |
|
| Posted On |
2013-11-05 |
Incidental Mutation