Incidental Mutation 'R0152:Eri2'
| ID |
32171 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Eri2
|
| Ensembl Gene |
ENSMUSG00000030929 |
| Gene Name |
exoribonuclease 2 |
| Synonyms |
Exod1, 4933424N09Rik |
| MMRRC Submission |
038435-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.251)
|
| Stock # |
R0152 (G1)
|
| Quality Score |
65 |
|
Status
|
Validated
(trace)
|
| Chromosome |
7 |
| Chromosomal Location |
119383049-119393283 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 119389606 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 104
(V104A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000120547
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000033218]
[ENSMUST00000033224]
[ENSMUST00000063902]
[ENSMUST00000084644]
[ENSMUST00000106520]
[ENSMUST00000106523]
[ENSMUST00000106529]
[ENSMUST00000150844]
[ENSMUST00000139192]
[ENSMUST00000133758]
|
| AlphaFold |
Q5BKS4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000033218
|
| SMART Domains |
Protein: ENSMUSP00000033218
Gene: ENSMUSG00000030924
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
105 |
116 |
N/A |
INTRINSIC |
|
low complexity region
|
123 |
134 |
N/A |
INTRINSIC |
|
Pfam:RNase_T
|
225 |
330 |
1.4e-12 |
PFAM |
|
Blast:RRM
|
424 |
463 |
5e-17 |
BLAST |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000033224
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000063902
AA Change: V104A
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000068633
Gene: ENSMUSG00000030929
AA Change: V104A
| 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: ENSMUST00000084644
|
| SMART Domains |
Protein: ENSMUSP00000081694
Gene: ENSMUSG00000030924
| Domain | Start | End | E-Value | Type |
|---|
|
EXOIII
|
31 |
189 |
2.72e-29 |
SMART |
|
RRM
|
298 |
367 |
3.23e-9 |
SMART |
|
Blast:RRM
|
393 |
437 |
2e-22 |
BLAST |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000106520
|
| SMART Domains |
Protein: ENSMUSP00000102130
Gene: ENSMUSG00000030924
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
105 |
116 |
N/A |
INTRINSIC |
|
low complexity region
|
123 |
134 |
N/A |
INTRINSIC |
|
EXOIII
|
223 |
381 |
2.72e-29 |
SMART |
|
RRM
|
491 |
560 |
3.23e-9 |
SMART |
|
RRM
|
586 |
661 |
3.28e-2 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000106523
AA Change: V104A
PolyPhen 2
Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000102133
Gene: ENSMUSG00000030929
AA Change: V104A
| Domain | Start | End | E-Value | Type |
|---|
|
EXOIII
|
36 |
235 |
1.41e-13 |
SMART |
|
| 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 damaging
Transcript: ENSMUST00000150844
AA Change: V104A
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000120547
Gene: ENSMUSG00000030929
AA Change: V104A
| 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 |
probably damaging
Transcript: ENSMUST00000139192
AA Change: V76A
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000117940
Gene: ENSMUSG00000030929
AA Change: V76A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:RNase_T
|
21 |
160 |
1.2e-13 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133926
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000125595
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000137015
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000133758
|
| Meta Mutation Damage Score |
0.6819 |
| Coding Region Coverage |
- 1x: 98.9%
- 3x: 97.9%
- 10x: 95.3%
- 20x: 89.5%
|
| Validation Efficiency |
87% (40/46) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aass |
T |
C |
6: 23,074,688 (GRCm39) |
D834G |
probably damaging |
Het |
| Abca13 |
T |
A |
11: 9,531,724 (GRCm39) |
H4650Q |
probably damaging |
Het |
| Aqr |
T |
A |
2: 113,989,491 (GRCm39) |
T111S |
probably benign |
Het |
| Arfip2 |
G |
A |
7: 105,286,430 (GRCm39) |
T124M |
probably damaging |
Het |
| Arhgap44 |
G |
T |
11: 64,902,745 (GRCm39) |
A574E |
probably benign |
Het |
| Arhgef26 |
T |
C |
3: 62,330,965 (GRCm39) |
S560P |
probably damaging |
Het |
| Car5a |
T |
A |
8: 122,643,185 (GRCm39) |
N273I |
probably damaging |
Het |
| Cd4 |
G |
A |
6: 124,844,709 (GRCm39) |
Q359* |
probably null |
Het |
| Cgrrf1 |
G |
A |
14: 47,091,370 (GRCm39) |
C298Y |
probably damaging |
Het |
| Clip3 |
G |
A |
7: 30,002,857 (GRCm39) |
A416T |
probably benign |
Het |
| Dst |
C |
T |
1: 34,228,200 (GRCm39) |
P1606L |
probably damaging |
Het |
| Eif3e |
G |
A |
15: 43,115,632 (GRCm39) |
A378V |
possibly damaging |
Het |
| Ercc6 |
C |
G |
14: 32,268,862 (GRCm39) |
|
probably benign |
Het |
| Exph5 |
T |
A |
9: 53,264,504 (GRCm39) |
|
probably null |
Het |
| Hmcn1 |
A |
T |
1: 150,539,630 (GRCm39) |
Y2954N |
probably benign |
Het |
| Itga2 |
C |
T |
13: 115,002,850 (GRCm39) |
G547R |
probably benign |
Het |
| Kbtbd11 |
T |
C |
8: 15,077,428 (GRCm39) |
V9A |
probably damaging |
Het |
| Ldb2 |
T |
C |
5: 44,699,141 (GRCm39) |
D99G |
possibly damaging |
Het |
| Mfsd12 |
G |
T |
10: 81,193,633 (GRCm39) |
D68Y |
probably damaging |
Het |
| Mgarp |
T |
C |
3: 51,296,384 (GRCm39) |
D228G |
probably benign |
Het |
| Myh14 |
A |
T |
7: 44,272,605 (GRCm39) |
L1441Q |
probably damaging |
Het |
| Obscn |
T |
C |
11: 58,943,402 (GRCm39) |
D4810G |
probably benign |
Het |
| Or10ak9 |
T |
A |
4: 118,726,083 (GRCm39) |
I34N |
possibly damaging |
Het |
| Or14c40 |
A |
T |
7: 86,313,719 (GRCm39) |
Y283F |
probably damaging |
Het |
| Or2z8 |
C |
T |
8: 72,812,244 (GRCm39) |
T240M |
probably damaging |
Het |
| Or5b12 |
A |
G |
19: 12,897,472 (GRCm39) |
V67A |
possibly damaging |
Het |
| Or8g30 |
A |
G |
9: 39,230,757 (GRCm39) |
I51T |
probably benign |
Het |
| Pdhx |
A |
G |
2: 102,858,625 (GRCm39) |
V393A |
probably benign |
Het |
| Pdpk1 |
C |
T |
17: 24,325,920 (GRCm39) |
R92H |
possibly damaging |
Het |
| Pgr |
A |
T |
9: 8,965,023 (GRCm39) |
I889F |
probably benign |
Het |
| Pum2 |
T |
A |
12: 8,778,754 (GRCm39) |
I468K |
possibly damaging |
Het |
| Recql5 |
A |
G |
11: 115,785,499 (GRCm39) |
S666P |
probably benign |
Het |
| Rims4 |
C |
T |
2: 163,705,849 (GRCm39) |
V262M |
possibly damaging |
Het |
| Slc17a3 |
C |
T |
13: 24,039,841 (GRCm39) |
S293F |
probably damaging |
Het |
| Slc26a4 |
T |
C |
12: 31,579,497 (GRCm39) |
I588M |
probably damaging |
Het |
| Slc9a2 |
A |
G |
1: 40,781,964 (GRCm39) |
T398A |
probably damaging |
Het |
| Snapc1 |
C |
T |
12: 74,021,806 (GRCm39) |
R81C |
probably damaging |
Het |
| Tub |
A |
T |
7: 108,620,134 (GRCm39) |
N93Y |
probably damaging |
Het |
| Usp3 |
T |
C |
9: 66,447,432 (GRCm39) |
T181A |
probably damaging |
Het |
| Vars2 |
A |
G |
17: 35,970,919 (GRCm39) |
L637P |
probably damaging |
Het |
| Vmn2r1 |
T |
C |
3: 63,989,240 (GRCm39) |
S60P |
possibly damaging |
Het |
| Wdcp |
A |
G |
12: 4,901,583 (GRCm39) |
S480G |
probably benign |
Het |
| Zbtb38 |
T |
C |
9: 96,568,333 (GRCm39) |
Y917C |
probably damaging |
Het |
| Zfp68 |
T |
C |
5: 138,604,875 (GRCm39) |
K445E |
probably damaging |
Het |
| Zmynd10 |
A |
G |
9: 107,428,144 (GRCm39) |
|
probably null |
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 |
|
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGCATCAGTCATGCTTTACCTGACC -3'
(R):5'- GTGTCCCCTCTAAAAGTCCACTGC -3'
Sequencing Primer
(F):5'- GTCATGCTTTACCTGACCATGTAAC -3'
(R):5'- cacaaccatccttaatgagatctaac -3'
|
| Posted On |
2013-04-24 |
Incidental Mutation