Incidental Mutation 'R0993:Eri3'
| ID |
97836 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Eri3
|
| Ensembl Gene |
ENSMUSG00000033423 |
| Gene Name |
exoribonuclease 3 |
| Synonyms |
PINT1, Prnpip1 |
| MMRRC Submission |
039113-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0993 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
117407562-117531494 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 117421860 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Lysine
at position 46
(T46K)
|
| 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: T85K
PolyPhen 2
Score 0.225 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000042796
Gene: ENSMUSG00000033423
AA Change: T85K
| 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 |
possibly damaging
Transcript: ENSMUST00000144373
AA Change: T46K
PolyPhen 2
Score 0.848 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000117034
Gene: ENSMUSG00000033423
AA Change: T46K
| 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 |
- 1x: 98.9%
- 3x: 98.0%
- 10x: 95.2%
- 20x: 89.0%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 18 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| D6Ertd527e |
C |
G |
6: 87,088,506 (GRCm39) |
T223S |
unknown |
Het |
| Eml5 |
T |
C |
12: 98,827,442 (GRCm39) |
E596G |
probably benign |
Het |
| Etv1 |
C |
T |
12: 38,877,863 (GRCm39) |
P68S |
probably damaging |
Het |
| Fbxl8 |
C |
A |
8: 105,993,717 (GRCm39) |
D24E |
probably damaging |
Het |
| Gm19965 |
A |
T |
1: 116,749,555 (GRCm39) |
N412I |
probably benign |
Het |
| Lmbr1 |
T |
A |
5: 29,492,391 (GRCm39) |
H66L |
probably damaging |
Het |
| Nrbp1 |
T |
A |
5: 31,403,157 (GRCm39) |
I210N |
probably damaging |
Het |
| Or8j3b |
T |
G |
2: 86,205,222 (GRCm39) |
Y178S |
probably damaging |
Het |
| Polr1has |
TCACCACCACCACCACCACCACCAC |
TCACCACCACCACCACCACCAC |
17: 37,275,939 (GRCm39) |
|
probably benign |
Het |
| Prl2c2 |
G |
C |
13: 13,176,786 (GRCm39) |
T47R |
probably damaging |
Het |
| Samd8 |
T |
A |
14: 21,825,563 (GRCm39) |
V173D |
probably damaging |
Het |
| Shf |
G |
A |
2: 122,199,163 (GRCm39) |
P51S |
probably damaging |
Het |
| Slc2a9 |
T |
A |
5: 38,539,406 (GRCm39) |
T365S |
probably damaging |
Het |
| Slc32a1 |
T |
C |
2: 158,453,340 (GRCm39) |
M60T |
possibly damaging |
Het |
| Slx4 |
T |
C |
16: 3,803,689 (GRCm39) |
S1042G |
probably benign |
Het |
| Stard9 |
T |
C |
2: 120,535,650 (GRCm39) |
L193P |
probably damaging |
Het |
| Tln1 |
T |
C |
4: 43,549,825 (GRCm39) |
K529E |
probably benign |
Het |
| Vps13d |
G |
A |
4: 144,844,262 (GRCm39) |
R1342* |
probably null |
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 |
|
|
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CGGCTCTCTTTTGAACAAGTGCTCC -3'
(R):5'- CACCCAAGCTTTGCTGAAGCAATG -3'
Sequencing Primer
(F):5'- GTGCTCCATTTACAAAGGAAGC -3'
(R):5'- ATGTGGCCTCAAAGTCCAG -3'
|
| Posted On |
2014-01-05 |
Incidental Mutation