Incidental Mutation 'R5037:Eri2'
ID |
389574 |
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: 0.251)
|
Stock # |
R5037 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
7 |
Chromosomal Location |
119383049-119393283 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 119384897 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Phenylalanine
at position 535
(L535F)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000120547
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000033224]
[ENSMUST00000063770]
[ENSMUST00000063902]
[ENSMUST00000106523]
[ENSMUST00000106526]
[ENSMUST00000106527]
[ENSMUST00000150844]
[ENSMUST00000106529]
[ENSMUST00000139192]
[ENSMUST00000106528]
|
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: ENSMUST00000150844
AA Change: L535F
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000120547 Gene: ENSMUSG00000030929 AA Change: L535F
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: ENSMUST00000149598
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154828
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133926
|
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 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: 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 |
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.4%
- 10x: 96.6%
- 20x: 93.3%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 50 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Btaf1 |
T |
C |
19: 36,980,931 (GRCm39) |
V1584A |
probably damaging |
Het |
Ccdc136 |
A |
T |
6: 29,417,122 (GRCm39) |
S648C |
probably damaging |
Het |
Ccna2 |
A |
G |
3: 36,625,152 (GRCm39) |
|
probably benign |
Het |
Cdc23 |
C |
A |
18: 34,784,742 (GRCm39) |
V7L |
unknown |
Het |
Cenpf |
T |
C |
1: 189,416,043 (GRCm39) |
E94G |
probably damaging |
Het |
Clic1 |
G |
A |
17: 35,274,235 (GRCm39) |
V139I |
probably benign |
Het |
Coasy |
A |
G |
11: 100,975,648 (GRCm39) |
E327G |
probably damaging |
Het |
Col6a5 |
C |
T |
9: 105,805,337 (GRCm39) |
E1190K |
unknown |
Het |
Cyp2c70 |
A |
G |
19: 40,172,441 (GRCm39) |
V67A |
possibly damaging |
Het |
Dglucy |
A |
G |
12: 100,801,500 (GRCm39) |
S52G |
probably benign |
Het |
Dync1h1 |
A |
G |
12: 110,607,341 (GRCm39) |
N2644S |
probably benign |
Het |
Eif4g2 |
A |
T |
7: 110,676,239 (GRCm39) |
N347K |
probably benign |
Het |
Epha10 |
T |
C |
4: 124,809,178 (GRCm39) |
|
probably benign |
Het |
Epm2aip1 |
T |
C |
9: 111,101,218 (GRCm39) |
F64L |
probably benign |
Het |
Garin5b |
T |
G |
7: 4,761,575 (GRCm39) |
K379T |
possibly damaging |
Het |
Gm17430 |
T |
C |
18: 9,726,561 (GRCm39) |
E37G |
probably benign |
Het |
Heatr5b |
T |
A |
17: 79,131,939 (GRCm39) |
Q388L |
probably benign |
Het |
Htr1f |
A |
G |
16: 64,746,291 (GRCm39) |
W334R |
probably damaging |
Het |
Icam4 |
A |
T |
9: 20,940,937 (GRCm39) |
C717* |
probably null |
Het |
Iqgap1 |
A |
C |
7: 80,383,848 (GRCm39) |
L1072W |
probably damaging |
Het |
Kbtbd11 |
G |
T |
8: 15,077,886 (GRCm39) |
A162S |
probably benign |
Het |
Kif13b |
T |
G |
14: 64,996,038 (GRCm39) |
Y941* |
probably null |
Het |
Kndc1 |
T |
C |
7: 139,490,371 (GRCm39) |
V291A |
possibly damaging |
Het |
Lrrn3 |
A |
T |
12: 41,503,594 (GRCm39) |
I241N |
probably damaging |
Het |
Macf1 |
A |
G |
4: 123,349,312 (GRCm39) |
S2387P |
probably damaging |
Het |
Msh5 |
A |
G |
17: 35,251,369 (GRCm39) |
L451S |
possibly damaging |
Het |
Mthfd1 |
T |
G |
12: 76,340,914 (GRCm39) |
F258V |
probably damaging |
Het |
Ncstn |
C |
T |
1: 171,896,193 (GRCm39) |
R495H |
probably damaging |
Het |
Or4k2 |
T |
G |
14: 50,423,745 (GRCm39) |
T310P |
probably benign |
Het |
Pkd1l3 |
T |
A |
8: 110,392,268 (GRCm39) |
I1954N |
probably damaging |
Het |
Ppox |
C |
A |
1: 171,105,169 (GRCm39) |
V340L |
probably damaging |
Het |
Prkag1 |
T |
C |
15: 98,713,768 (GRCm39) |
T21A |
possibly damaging |
Het |
Pygo1 |
C |
A |
9: 72,852,199 (GRCm39) |
H129N |
probably damaging |
Het |
Rad9a |
A |
T |
19: 4,247,173 (GRCm39) |
C271S |
probably benign |
Het |
Raph1 |
T |
C |
1: 60,535,381 (GRCm39) |
|
probably null |
Het |
Reln |
A |
G |
5: 22,153,510 (GRCm39) |
F2265L |
probably damaging |
Het |
Shc4 |
A |
G |
2: 125,471,647 (GRCm39) |
I304T |
probably damaging |
Het |
Slc35f3 |
T |
A |
8: 127,116,011 (GRCm39) |
L313M |
probably damaging |
Het |
Spata31g1 |
T |
A |
4: 42,972,195 (GRCm39) |
H509Q |
probably benign |
Het |
Spef1l |
A |
T |
7: 139,558,587 (GRCm39) |
S3R |
possibly damaging |
Het |
Sycp2l |
T |
A |
13: 41,283,337 (GRCm39) |
M191K |
possibly damaging |
Het |
Tmem132c |
C |
A |
5: 127,630,199 (GRCm39) |
Q579K |
probably benign |
Het |
Trbj2-5 |
A |
G |
6: 41,520,394 (GRCm39) |
|
probably benign |
Het |
Ttc38 |
A |
G |
15: 85,728,741 (GRCm39) |
E231G |
probably benign |
Het |
Utp20 |
A |
G |
10: 88,611,192 (GRCm39) |
V1375A |
probably benign |
Het |
Vcan |
T |
A |
13: 89,852,096 (GRCm39) |
T955S |
probably damaging |
Het |
Vmn1r89 |
T |
C |
7: 12,953,314 (GRCm39) |
C17R |
possibly damaging |
Het |
Wnk1 |
A |
G |
6: 119,942,696 (GRCm39) |
|
probably benign |
Het |
Zfp667 |
T |
G |
7: 6,308,949 (GRCm39) |
I539S |
possibly damaging |
Het |
Zfp738 |
T |
A |
13: 67,818,320 (GRCm39) |
H557L |
probably damaging |
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 |
|
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 |
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'- AGAGGCGGTGTCATCTTTCC -3'
(R):5'- TGAAGACCTTCAGGAAACTCC -3'
Sequencing Primer
(F):5'- CAGTCTTCCAAGGCTCCTGTAG -3'
(R):5'- GTGTATAAGAGTCCTCACAGTACAG -3'
|
Posted On |
2016-06-06 |