Incidental Mutation 'R7480:Eri2'
ID |
579740 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Eri2
|
Ensembl Gene |
ENSMUSG00000030929 |
Gene Name |
exoribonuclease 2 |
Synonyms |
Exod1, 4933424N09Rik |
MMRRC Submission |
045554-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.251)
|
Stock # |
R7480 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
119383049-119393283 bp(-) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
T to A
at 119385734 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Stop codon
at position 256
(R256*)
|
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 null
Transcript: ENSMUST00000150844
AA Change: R256*
|
SMART Domains |
Protein: ENSMUSP00000120547 Gene: ENSMUSG00000030929 AA Change: R256*
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 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 |
|
Meta Mutation Damage Score |
0.9755 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.2%
|
Validation Efficiency |
100% (64/64) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 68 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Alg9 |
T |
G |
9: 50,733,928 (GRCm39) |
M542R |
probably benign |
Het |
Apol10b |
G |
T |
15: 77,472,988 (GRCm39) |
A22D |
probably benign |
Het |
Arhgap45 |
T |
A |
10: 79,862,936 (GRCm39) |
L704* |
probably null |
Het |
Bicc1 |
T |
C |
10: 70,779,306 (GRCm39) |
D694G |
probably damaging |
Het |
C1ql3 |
A |
T |
2: 13,015,150 (GRCm39) |
I170N |
probably damaging |
Het |
Casz1 |
T |
C |
4: 149,029,043 (GRCm39) |
F1163L |
probably damaging |
Het |
Ces2f |
A |
G |
8: 105,681,338 (GRCm39) |
K559R |
possibly damaging |
Het |
Col19a1 |
C |
T |
1: 24,356,788 (GRCm39) |
G632R |
probably damaging |
Het |
Cr2 |
C |
T |
1: 194,836,484 (GRCm39) |
C893Y |
probably damaging |
Het |
Csf1r |
T |
G |
18: 61,250,610 (GRCm39) |
D440E |
probably benign |
Het |
Cul9 |
A |
T |
17: 46,848,738 (GRCm39) |
M666K |
probably benign |
Het |
Dapk1 |
A |
G |
13: 60,905,311 (GRCm39) |
D1007G |
probably benign |
Het |
Dlk1 |
T |
A |
12: 109,421,540 (GRCm39) |
C85S |
probably damaging |
Het |
Epb41l3 |
A |
C |
17: 69,568,867 (GRCm39) |
|
probably null |
Het |
Fshr |
A |
C |
17: 89,292,802 (GRCm39) |
Y625* |
probably null |
Het |
Galk2 |
A |
G |
2: 125,788,845 (GRCm39) |
I300V |
probably benign |
Het |
Garin1a |
G |
A |
6: 29,281,435 (GRCm39) |
|
probably null |
Het |
Gm3409 |
T |
A |
5: 146,476,311 (GRCm39) |
V154E |
probably damaging |
Het |
Gm7356 |
A |
G |
17: 14,221,327 (GRCm39) |
I234T |
possibly damaging |
Het |
Gtf3c1 |
T |
C |
7: 125,241,713 (GRCm39) |
Y1995C |
probably benign |
Het |
Herc6 |
C |
T |
6: 57,558,206 (GRCm39) |
T62I |
possibly damaging |
Het |
Hif3a |
G |
A |
7: 16,776,560 (GRCm39) |
T462I |
possibly damaging |
Het |
Hmcn1 |
A |
T |
1: 150,552,985 (GRCm39) |
|
probably null |
Het |
Iqca1l |
T |
G |
5: 24,751,904 (GRCm39) |
E498A |
probably damaging |
Het |
Jrk |
G |
T |
15: 74,578,902 (GRCm39) |
P128T |
probably benign |
Het |
Kctd14 |
T |
C |
7: 97,107,431 (GRCm39) |
F229L |
probably benign |
Het |
Kif27 |
A |
T |
13: 58,436,025 (GRCm39) |
V1256E |
probably benign |
Het |
Klk13 |
T |
C |
7: 43,370,846 (GRCm39) |
S133P |
probably benign |
Het |
Mpzl1 |
A |
G |
1: 165,432,257 (GRCm39) |
V176A |
possibly damaging |
Het |
Mxi1 |
A |
G |
19: 53,360,066 (GRCm39) |
T263A |
possibly damaging |
Het |
Nfxl1 |
C |
T |
5: 72,716,595 (GRCm39) |
W5* |
probably null |
Het |
Nt5dc1 |
C |
T |
10: 34,200,450 (GRCm39) |
G190R |
probably damaging |
Het |
Nt5dc1 |
C |
A |
10: 34,200,449 (GRCm39) |
G190V |
probably damaging |
Het |
Oprd1 |
A |
G |
4: 131,844,492 (GRCm39) |
I172T |
possibly damaging |
Het |
Or1f19 |
A |
T |
16: 3,410,493 (GRCm39) |
T78S |
probably benign |
Het |
Or4k38 |
A |
G |
2: 111,165,737 (GRCm39) |
S229P |
probably benign |
Het |
Or6f1 |
A |
G |
7: 85,970,888 (GRCm39) |
S91P |
probably benign |
Het |
Or7e173 |
C |
T |
9: 19,939,230 (GRCm39) |
M1I |
probably null |
Het |
Pafah1b1 |
A |
C |
11: 74,576,740 (GRCm39) |
C184G |
probably damaging |
Het |
Pde5a |
A |
T |
3: 122,596,797 (GRCm39) |
N495Y |
possibly damaging |
Het |
Piezo1 |
A |
T |
8: 123,225,234 (GRCm39) |
Y588* |
probably null |
Het |
Plekha7 |
A |
T |
7: 115,736,403 (GRCm39) |
|
probably null |
Het |
Pramel11 |
T |
C |
4: 143,622,065 (GRCm39) |
D430G |
probably benign |
Het |
Prdm11 |
T |
C |
2: 92,805,669 (GRCm39) |
K427R |
probably benign |
Het |
Rai14 |
C |
A |
15: 10,571,622 (GRCm39) |
E940D |
probably benign |
Het |
Rasl11b |
T |
A |
5: 74,358,771 (GRCm39) |
V92E |
possibly damaging |
Het |
Rassf8 |
T |
A |
6: 145,765,757 (GRCm39) |
I29K |
unknown |
Het |
Reg3a |
C |
T |
6: 78,359,330 (GRCm39) |
T110I |
probably damaging |
Het |
Scaf1 |
C |
T |
7: 44,657,073 (GRCm39) |
G602D |
unknown |
Het |
Senp6 |
T |
C |
9: 80,029,199 (GRCm39) |
C521R |
probably damaging |
Het |
Senp7 |
G |
A |
16: 55,975,589 (GRCm39) |
V432I |
possibly damaging |
Het |
Skint8 |
A |
T |
4: 111,785,784 (GRCm39) |
R77* |
probably null |
Het |
Slamf9 |
G |
A |
1: 172,305,040 (GRCm39) |
C218Y |
probably damaging |
Het |
Slc8a1 |
T |
C |
17: 81,956,649 (GRCm39) |
T130A |
probably damaging |
Het |
Smpdl3a |
A |
G |
10: 57,678,574 (GRCm39) |
I126V |
possibly damaging |
Het |
Taar9 |
T |
A |
10: 23,984,843 (GRCm39) |
N197I |
possibly damaging |
Het |
Tango6 |
A |
T |
8: 107,423,359 (GRCm39) |
D378V |
possibly damaging |
Het |
Tfb2m |
A |
G |
1: 179,356,747 (GRCm39) |
F396L |
probably benign |
Het |
Thbs4 |
G |
A |
13: 92,903,729 (GRCm39) |
P429L |
probably benign |
Het |
Tnxb |
A |
G |
17: 34,934,747 (GRCm39) |
D2452G |
probably damaging |
Het |
Ulk3 |
C |
T |
9: 57,498,523 (GRCm39) |
R131* |
probably null |
Het |
Vmn1r179 |
A |
T |
7: 23,628,558 (GRCm39) |
R250* |
probably null |
Het |
Vmn1r54 |
A |
G |
6: 90,246,160 (GRCm39) |
I25V |
possibly damaging |
Het |
Wnt7a |
C |
A |
6: 91,371,395 (GRCm39) |
R189L |
probably benign |
Het |
Wrap73 |
A |
G |
4: 154,237,043 (GRCm39) |
D210G |
probably benign |
Het |
Xpo6 |
G |
A |
7: 125,701,505 (GRCm39) |
R1112* |
probably null |
Het |
Zfp114 |
T |
A |
7: 23,881,307 (GRCm39) |
V552D |
probably damaging |
Het |
Zfp764l1 |
C |
T |
7: 126,992,496 (GRCm39) |
C38Y |
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 |
|
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 |
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'- CACAGATGTCGACGACTTGG -3'
(R):5'- TCCTCGGGTAGTAGTCATGTTC -3'
Sequencing Primer
(F):5'- ACAGATGTCGACGACTTGGTAGTG -3'
(R):5'- GCACCAATGACATTTTTCC -3'
|
Posted On |
2019-10-07 |