Incidental Mutation 'R5315:Eri2'
ID |
405800 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Eri2
|
Ensembl Gene |
ENSMUSG00000030929 |
Gene Name |
exoribonuclease 2 |
Synonyms |
Exod1, 4933424N09Rik |
MMRRC Submission |
042898-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.285)
|
Stock # |
R5315 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
7 |
Chromosomal Location |
119383049-119393283 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 119385241 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 420
(D420G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000120547
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000033224]
[ENSMUST00000063770]
[ENSMUST00000063902]
[ENSMUST00000106523]
[ENSMUST00000106526]
[ENSMUST00000106527]
[ENSMUST00000106528]
[ENSMUST00000150844]
[ENSMUST00000106529]
[ENSMUST00000139192]
|
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: D420G
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000120547 Gene: ENSMUSG00000030929 AA Change: D420G
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: 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 |
|
Coding Region Coverage |
- 1x: 99.5%
- 3x: 99.0%
- 10x: 98.1%
- 20x: 97.1%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 34 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ace3 |
T |
C |
11: 105,885,747 (GRCm39) |
V51A |
probably benign |
Het |
Ass1 |
A |
T |
2: 31,382,341 (GRCm39) |
I171F |
probably benign |
Het |
AU041133 |
T |
G |
10: 81,987,506 (GRCm39) |
Y386* |
probably null |
Het |
Bex6 |
A |
G |
16: 32,005,311 (GRCm39) |
N40D |
probably benign |
Het |
Cc2d2a |
A |
G |
5: 43,877,775 (GRCm39) |
Y1044C |
probably damaging |
Het |
Cflar |
C |
G |
1: 58,792,961 (GRCm39) |
D442E |
probably benign |
Het |
Dag1 |
A |
G |
9: 108,086,316 (GRCm39) |
V275A |
probably damaging |
Het |
Dnah17 |
G |
A |
11: 118,018,109 (GRCm39) |
R129W |
possibly damaging |
Het |
Epha4 |
C |
T |
1: 77,365,109 (GRCm39) |
|
probably null |
Het |
Gm42669 |
A |
T |
5: 107,656,103 (GRCm39) |
I1301F |
probably damaging |
Het |
Golga2 |
A |
G |
2: 32,193,773 (GRCm39) |
E463G |
probably damaging |
Het |
Grsf1 |
G |
A |
5: 88,821,634 (GRCm39) |
|
probably benign |
Het |
Igkv6-15 |
A |
C |
6: 70,383,957 (GRCm39) |
V7G |
possibly damaging |
Het |
Katnal2 |
A |
T |
18: 77,099,705 (GRCm39) |
V143D |
probably benign |
Het |
Mepce |
A |
C |
5: 137,780,955 (GRCm39) |
I617S |
probably damaging |
Het |
Mms19 |
C |
T |
19: 41,943,201 (GRCm39) |
R320Q |
possibly damaging |
Het |
Nt5c2 |
T |
C |
19: 46,880,682 (GRCm39) |
Y353C |
probably damaging |
Het |
Or5p76 |
A |
G |
7: 108,123,097 (GRCm39) |
L20S |
probably damaging |
Het |
Or8s5 |
G |
A |
15: 98,238,246 (GRCm39) |
A208V |
probably benign |
Het |
Pitpnm2 |
A |
T |
5: 124,259,996 (GRCm39) |
D1111E |
probably benign |
Het |
Plin5 |
C |
A |
17: 56,421,066 (GRCm39) |
V200L |
probably benign |
Het |
Rab3a |
T |
C |
8: 71,208,569 (GRCm39) |
F23L |
probably damaging |
Het |
Rrp8 |
T |
C |
7: 105,383,207 (GRCm39) |
K353R |
probably benign |
Het |
S100a7l2 |
G |
A |
3: 90,997,637 (GRCm39) |
T26M |
possibly damaging |
Het |
Senp7 |
A |
G |
16: 56,000,889 (GRCm39) |
D887G |
probably benign |
Het |
Sftpb |
G |
T |
6: 72,283,876 (GRCm39) |
A158S |
probably benign |
Het |
Sh2d2a |
A |
C |
3: 87,754,976 (GRCm39) |
T23P |
probably damaging |
Het |
Siglecf |
T |
C |
7: 43,004,532 (GRCm39) |
L287P |
probably benign |
Het |
Slc4a1 |
T |
A |
11: 102,249,080 (GRCm39) |
I233F |
possibly damaging |
Het |
Spef2 |
T |
C |
15: 9,596,777 (GRCm39) |
Q1424R |
probably damaging |
Het |
Tbc1d14 |
T |
C |
5: 36,664,932 (GRCm39) |
D567G |
probably damaging |
Het |
Tmem106b |
T |
G |
6: 13,081,559 (GRCm39) |
N155K |
probably damaging |
Het |
Vmn2r2 |
C |
A |
3: 64,024,377 (GRCm39) |
V735F |
probably benign |
Het |
Zfp850 |
T |
C |
7: 27,689,743 (GRCm39) |
K155R |
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 |
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 |
R5037:Eri2
|
UTSW |
7 |
119,384,897 (GRCm39) |
missense |
probably benign |
|
R5260:Eri2
|
UTSW |
7 |
119,387,069 (GRCm39) |
splice site |
probably benign |
|
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'- TTAAAAGCAGAGGCATCCGAAC -3'
(R):5'- TGAATGACAGCTCAAAGTCCTC -3'
Sequencing Primer
(F):5'- CATAGACTGTACTGTGAGGACTC -3'
(R):5'- TCAACACTTAACTCCAACTTAGTGC -3'
|
Posted On |
2016-07-22 |