Incidental Mutation 'IGL01781:Eri3'
| ID |
153924 |
| 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 # |
IGL01781
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
117407562-117531494 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 117421874 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 51
(F51L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000117034
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037127]
[ENSMUST00000144373]
|
| AlphaFold |
Q8C460 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000037127
AA Change: F90L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000042796
Gene: ENSMUSG00000033423
AA Change: F90L
| 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 benign
Transcript: ENSMUST00000144373
AA Change: F51L
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000117034
Gene: ENSMUSG00000033423
AA Change: F51L
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
85 |
96 |
N/A |
INTRINSIC |
|
Pfam:RNase_T
|
108 |
163 |
3.7e-14 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146384
|
| 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 |
|---|
| Abca13 |
T |
A |
11: 9,349,280 (GRCm39) |
I3618N |
probably damaging |
Het |
| Acss1 |
A |
G |
2: 150,479,792 (GRCm39) |
L305P |
probably damaging |
Het |
| Alox12e |
A |
T |
11: 70,212,282 (GRCm39) |
L132Q |
probably damaging |
Het |
| Atp6v0a4 |
T |
C |
6: 38,051,095 (GRCm39) |
N428D |
possibly damaging |
Het |
| Ccdc80 |
C |
T |
16: 44,946,493 (GRCm39) |
H811Y |
probably damaging |
Het |
| Cgn |
T |
C |
3: 94,680,515 (GRCm39) |
M596V |
probably benign |
Het |
| Cpn1 |
T |
A |
19: 43,954,657 (GRCm39) |
E323V |
possibly damaging |
Het |
| Cul9 |
A |
G |
17: 46,850,230 (GRCm39) |
S447P |
probably benign |
Het |
| Cyp2f2 |
A |
T |
7: 26,829,846 (GRCm39) |
Y182F |
probably benign |
Het |
| Dnajc13 |
T |
C |
9: 104,039,558 (GRCm39) |
M2104V |
possibly damaging |
Het |
| Fgd5 |
A |
G |
6: 91,965,698 (GRCm39) |
S486G |
possibly damaging |
Het |
| Fhdc1 |
G |
A |
3: 84,352,042 (GRCm39) |
A1061V |
possibly damaging |
Het |
| Ifna4 |
T |
C |
4: 88,760,389 (GRCm39) |
S98P |
probably damaging |
Het |
| Impg2 |
A |
G |
16: 56,072,588 (GRCm39) |
K340R |
probably benign |
Het |
| Man2b2 |
T |
C |
5: 36,971,089 (GRCm39) |
N759S |
possibly damaging |
Het |
| Mfsd1 |
A |
G |
3: 67,495,244 (GRCm39) |
|
probably benign |
Het |
| Or2d36 |
T |
A |
7: 106,746,903 (GRCm39) |
C127S |
probably damaging |
Het |
| Pdcd6ip |
G |
T |
9: 113,520,566 (GRCm39) |
N139K |
probably damaging |
Het |
| Peak1 |
A |
T |
9: 56,167,349 (GRCm39) |
I193N |
possibly damaging |
Het |
| Pip4p2 |
T |
C |
4: 14,893,566 (GRCm39) |
L143S |
probably damaging |
Het |
| Pramel28 |
C |
A |
4: 143,692,299 (GRCm39) |
C234F |
probably benign |
Het |
| Psg27 |
T |
A |
7: 18,298,989 (GRCm39) |
T111S |
probably damaging |
Het |
| Ptprs |
G |
A |
17: 56,742,676 (GRCm39) |
L489F |
probably damaging |
Het |
| Rpgrip1l |
A |
G |
8: 91,996,846 (GRCm39) |
V76A |
probably benign |
Het |
| Scd1 |
A |
T |
19: 44,388,787 (GRCm39) |
M221K |
possibly damaging |
Het |
| Slc38a7 |
A |
G |
8: 96,570,386 (GRCm39) |
|
probably null |
Het |
| Spon2 |
T |
C |
5: 33,372,904 (GRCm39) |
D266G |
probably benign |
Het |
| Spry4 |
C |
T |
18: 38,723,478 (GRCm39) |
G95D |
probably damaging |
Het |
| Supt20 |
A |
G |
3: 54,602,626 (GRCm39) |
M1V |
probably null |
Het |
| Trappc11 |
A |
C |
8: 47,967,163 (GRCm39) |
F404V |
possibly damaging |
Het |
| Vmn1r178 |
C |
A |
7: 23,593,434 (GRCm39) |
Q161K |
probably damaging |
Het |
| Vmn2r25 |
T |
C |
6: 123,816,324 (GRCm39) |
E419G |
possibly damaging |
Het |
| Vstm5 |
A |
G |
9: 15,168,968 (GRCm39) |
H146R |
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 |
|
IGL01392:Eri3
|
APN |
4 |
117,446,356 (GRCm39) |
critical splice donor site |
probably null |
|
|
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 |
2014-02-04 |
Incidental Mutation