Incidental Mutation 'K7894:Eri2'
| ID |
26523 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Eri2
|
| Ensembl Gene |
ENSMUSG00000030929 |
| Gene Name |
exoribonuclease 2 |
| Synonyms |
Exod1, 4933424N09Rik |
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.285)
|
| Stock # |
K7894 ()
of strain
468
|
| Quality Score |
225 |
|
Status
|
Validated
(trace)
|
| Chromosome |
7 |
| Chromosomal Location |
119383049-119393283 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 119384494 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 669
(D669G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000120547
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000033224]
[ENSMUST00000063770]
[ENSMUST00000063902]
[ENSMUST00000106523]
[ENSMUST00000106526]
[ENSMUST00000106527]
[ENSMUST00000106528]
[ENSMUST00000150844]
[ENSMUST00000139192]
[ENSMUST00000106529]
|
| 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 benign
Transcript: ENSMUST00000150844
AA Change: D669G
PolyPhen 2
Score 0.394 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000120547
Gene: ENSMUSG00000030929
AA Change: D669G
| 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: ENSMUST00000154828
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149598
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133926
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000125595
|
| 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 |
|
| 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 |
|
| Meta Mutation Damage Score |
0.1055 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.9%
- 20x: 95.4%
|
| Validation Efficiency |
88% (22/25) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 14 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca4 |
C |
CAA |
3: 121,941,517 (GRCm39) |
|
probably null |
Het |
| Acsl4 |
C |
T |
X: 141,111,056 (GRCm39) |
V632I |
probably benign |
Het |
| Adcy8 |
T |
C |
15: 64,694,083 (GRCm39) |
H398R |
probably benign |
Het |
| Catsperg1 |
C |
T |
7: 28,896,579 (GRCm39) |
|
probably benign |
Het |
| Ccpg1 |
T |
C |
9: 72,909,159 (GRCm39) |
|
probably null |
Het |
| Clk4 |
G |
T |
11: 51,166,593 (GRCm39) |
|
probably benign |
Het |
| Ehbp1 |
C |
T |
11: 22,039,683 (GRCm39) |
|
probably benign |
Het |
| Nlrp9c |
A |
G |
7: 26,084,323 (GRCm39) |
S419P |
possibly damaging |
Het |
| Or52h7 |
A |
G |
7: 104,213,739 (GRCm39) |
T104A |
probably benign |
Het |
| Pde8a |
C |
A |
7: 80,956,513 (GRCm39) |
P304H |
probably damaging |
Het |
| Prmt3 |
A |
G |
7: 49,476,459 (GRCm39) |
Y356C |
probably damaging |
Het |
| Rsph10b |
A |
G |
5: 143,881,338 (GRCm39) |
D151G |
probably damaging |
Het |
| Spryd3 |
A |
G |
15: 102,026,576 (GRCm39) |
V365A |
probably benign |
Het |
| Vmn1r58 |
T |
C |
7: 5,413,702 (GRCm39) |
N176S |
probably benign |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATGCTGAGGCTGCGTAAGGTAAAC -3'
(R):5'- AAAGATGACACCGCCTCTATGCAAG -3'
Sequencing Primer
(F):5'- TGCGTAAGGTAAACCCCACTG -3'
(R):5'- CCTCTATGCAAGTGTGGCAG -3'
|
| Posted On |
2013-04-16 |
Incidental Mutation