Incidental Mutation 'R3805:Eri2'
ID |
274558 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Eri2
|
Ensembl Gene |
ENSMUSG00000030929 |
Gene Name |
exoribonuclease 2 |
Synonyms |
Exod1, 4933424N09Rik |
MMRRC Submission |
040762-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.251)
|
Stock # |
R3805 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
119383049-119393283 bp(-) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
A to T
at 119385231 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Cysteine to Stop codon
at position 423
(C423*)
|
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 null
Transcript: ENSMUST00000150844
AA Change: C423*
|
SMART Domains |
Protein: ENSMUSP00000120547 Gene: ENSMUSG00000030929 AA Change: C423*
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: ENSMUST00000125595
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133926
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149598
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154828
|
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 |
0.9645 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.7%
- 20x: 96.1%
|
Validation Efficiency |
100% (41/41) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 36 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700012B07Rik |
G |
T |
11: 109,684,980 (GRCm39) |
C172* |
probably null |
Het |
Aebp2 |
GCGGCC |
GCGGCCGGCC |
6: 140,589,675 (GRCm39) |
|
probably null |
Het |
Ano5 |
T |
C |
7: 51,226,398 (GRCm39) |
F584L |
probably benign |
Het |
Ap1b1 |
T |
A |
11: 4,983,225 (GRCm39) |
|
probably null |
Het |
Bicd1 |
T |
A |
6: 149,420,489 (GRCm39) |
L780M |
probably damaging |
Het |
Ccdc138 |
T |
C |
10: 58,397,819 (GRCm39) |
I553T |
possibly damaging |
Het |
Col1a2 |
G |
A |
6: 4,518,822 (GRCm39) |
|
probably benign |
Het |
Crct1 |
C |
A |
3: 92,922,014 (GRCm39) |
|
probably benign |
Het |
Ctu1 |
T |
C |
7: 43,326,097 (GRCm39) |
L252P |
probably damaging |
Het |
Dhrs2 |
A |
T |
14: 55,472,205 (GRCm39) |
N32I |
probably benign |
Het |
Dnah1 |
A |
T |
14: 31,016,720 (GRCm39) |
M1599K |
possibly damaging |
Het |
Fam169a |
G |
A |
13: 97,234,192 (GRCm39) |
V155I |
probably benign |
Het |
Get4 |
G |
T |
5: 139,238,286 (GRCm39) |
V23F |
probably damaging |
Het |
Hdac3 |
A |
G |
18: 38,078,745 (GRCm39) |
|
probably null |
Het |
Herc3 |
C |
A |
6: 58,893,835 (GRCm39) |
H970Q |
probably damaging |
Het |
Htt |
A |
G |
5: 35,034,548 (GRCm39) |
|
probably null |
Het |
Ifit1 |
A |
G |
19: 34,625,556 (GRCm39) |
I231V |
probably damaging |
Het |
Lingo4 |
A |
G |
3: 94,309,407 (GRCm39) |
D115G |
probably damaging |
Het |
Lrrc7 |
T |
C |
3: 157,891,130 (GRCm39) |
I346V |
probably benign |
Het |
Map7d1 |
A |
T |
4: 126,131,084 (GRCm39) |
|
probably null |
Het |
Morf4l1 |
A |
G |
9: 89,977,196 (GRCm39) |
S203P |
probably benign |
Het |
Naaladl1 |
A |
G |
19: 6,164,895 (GRCm39) |
T628A |
probably benign |
Het |
Nlrp9a |
T |
A |
7: 26,264,277 (GRCm39) |
C643* |
probably null |
Het |
Or4ac1-ps1 |
A |
T |
2: 88,370,700 (GRCm39) |
|
noncoding transcript |
Het |
Or4b1 |
T |
G |
2: 89,978,805 (GRCm39) |
|
probably benign |
Het |
Oxtr |
T |
C |
6: 112,454,147 (GRCm39) |
K39R |
probably benign |
Het |
Ppp4r4 |
T |
A |
12: 103,566,625 (GRCm39) |
M24K |
probably damaging |
Het |
Ppp6r2 |
T |
C |
15: 89,149,842 (GRCm39) |
F256L |
probably benign |
Het |
Robo4 |
A |
T |
9: 37,315,734 (GRCm39) |
D329V |
possibly damaging |
Het |
Rsph10b |
G |
A |
5: 143,895,206 (GRCm39) |
|
probably null |
Het |
Slc9b2 |
T |
C |
3: 135,030,349 (GRCm39) |
L222P |
probably damaging |
Het |
Speer4a1 |
C |
T |
5: 26,240,082 (GRCm39) |
E223K |
possibly damaging |
Het |
St18 |
T |
A |
1: 6,872,577 (GRCm39) |
L104H |
probably damaging |
Het |
Tmem184c |
C |
A |
8: 78,323,504 (GRCm39) |
D453Y |
unknown |
Het |
Trpv1 |
A |
T |
11: 73,143,879 (GRCm39) |
N237I |
probably damaging |
Het |
Vmn2r77 |
T |
A |
7: 86,444,368 (GRCm39) |
L7* |
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 |
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 |
|
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'- ACTTAAAAGCAGAGGCATCCG -3'
(R):5'- TGAATGACAGCTCAAAGTCCTC -3'
Sequencing Primer
(F):5'- CATCATAGACTGTACTGTGAGGACTC -3'
(R):5'- TCAACACTTAACTCCAACTTAGTGC -3'
|
Posted On |
2015-04-02 |