Incidental Mutation 'R5884:Eri2'
| ID |
454573 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Eri2
|
| Ensembl Gene |
ENSMUSG00000030929 |
| Gene Name |
exoribonuclease 2 |
| Synonyms |
Exod1, 4933424N09Rik |
| MMRRC Submission |
044087-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.285)
|
| Stock # |
R5884 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
119383049-119393283 bp(-) (GRCm39) |
| Type of Mutation |
makesense |
| DNA Base Change (assembly) |
A to C
at 119371552 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Stop codon to Glutamic Acid
at position 275
(*275E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000068633
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000063770]
[ENSMUST00000063902]
[ENSMUST00000106523]
[ENSMUST00000106526]
[ENSMUST00000106527]
[ENSMUST00000106528]
[ENSMUST00000106529]
|
| AlphaFold |
Q5BKS4 |
| 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 null
Transcript: ENSMUST00000063902
AA Change: *275E
|
| SMART Domains |
Protein: ENSMUSP00000068633
Gene: ENSMUSG00000030929
AA Change: *275E
| 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: 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 |
noncoding transcript
Transcript: ENSMUST00000149598
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149766
|
| Meta Mutation Damage Score |
0.9755 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.4%
- 10x: 95.6%
- 20x: 82.8%
|
| Validation Efficiency |
96% (66/69) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Bmp5 |
T |
C |
9: 75,805,836 (GRCm39) |
M446T |
probably damaging |
Het |
| Cacna1g |
C |
T |
11: 94,328,693 (GRCm39) |
A1052T |
probably damaging |
Het |
| Cand1 |
C |
T |
10: 119,049,670 (GRCm39) |
A359T |
possibly damaging |
Het |
| Ccne2 |
A |
T |
4: 11,199,411 (GRCm39) |
T271S |
probably benign |
Het |
| Cep112 |
A |
G |
11: 108,461,142 (GRCm39) |
T546A |
probably damaging |
Het |
| Ces1g |
A |
G |
8: 94,033,558 (GRCm39) |
S455P |
probably benign |
Het |
| Dnah11 |
A |
T |
12: 118,141,269 (GRCm39) |
C496S |
probably benign |
Het |
| Dtx3l |
C |
G |
16: 35,752,603 (GRCm39) |
E668Q |
probably benign |
Het |
| Dysf |
T |
A |
6: 84,163,063 (GRCm39) |
F1579I |
probably damaging |
Het |
| Emx2 |
T |
G |
19: 59,452,461 (GRCm39) |
D248E |
probably damaging |
Het |
| F5 |
G |
A |
1: 164,023,215 (GRCm39) |
R1591H |
probably benign |
Het |
| Fabp3 |
A |
G |
4: 130,206,131 (GRCm39) |
T41A |
probably benign |
Het |
| Fam89a |
C |
T |
8: 125,478,508 (GRCm39) |
R14H |
probably damaging |
Het |
| Gbe1 |
T |
A |
16: 70,325,763 (GRCm39) |
|
probably null |
Het |
| Golga3 |
A |
G |
5: 110,364,761 (GRCm39) |
E1211G |
probably damaging |
Het |
| Gpa33 |
T |
C |
1: 165,980,329 (GRCm39) |
S131P |
probably damaging |
Het |
| Hyal6 |
T |
C |
6: 24,743,368 (GRCm39) |
Y355H |
probably damaging |
Het |
| Ide |
A |
T |
19: 37,249,552 (GRCm39) |
|
probably null |
Het |
| Ighv5-21 |
A |
T |
12: 114,283,806 (GRCm39) |
|
probably benign |
Het |
| Iglc1 |
A |
T |
16: 18,880,741 (GRCm39) |
|
probably benign |
Het |
| Impa1 |
A |
T |
3: 10,381,284 (GRCm39) |
N199K |
probably damaging |
Het |
| Irx5 |
A |
C |
8: 93,087,258 (GRCm39) |
T397P |
possibly damaging |
Het |
| Lonp2 |
A |
G |
8: 87,368,254 (GRCm39) |
Y356C |
probably damaging |
Het |
| Matn4 |
A |
T |
2: 164,246,528 (GRCm39) |
|
probably benign |
Het |
| Mplkipl1 |
C |
T |
19: 61,164,364 (GRCm39) |
G24R |
unknown |
Het |
| Nav2 |
T |
A |
7: 49,246,917 (GRCm39) |
Y2147* |
probably null |
Het |
| Nek5 |
C |
T |
8: 22,578,817 (GRCm39) |
|
probably null |
Het |
| Omt2b |
A |
G |
9: 78,235,839 (GRCm39) |
M55V |
probably benign |
Het |
| Or5d37 |
A |
G |
2: 87,924,140 (GRCm39) |
Y47H |
probably damaging |
Het |
| Or6z1 |
C |
A |
7: 6,504,842 (GRCm39) |
V128L |
probably benign |
Het |
| Or9g8 |
T |
A |
2: 85,607,399 (GRCm39) |
I157K |
probably damaging |
Het |
| Parp4 |
T |
A |
14: 56,852,207 (GRCm39) |
H796Q |
probably damaging |
Het |
| Pex2 |
T |
C |
3: 5,626,359 (GRCm39) |
E150G |
probably benign |
Het |
| Poglut2 |
T |
C |
1: 44,156,260 (GRCm39) |
N109S |
probably benign |
Het |
| Psmb2 |
T |
A |
4: 126,578,014 (GRCm39) |
V64E |
possibly damaging |
Het |
| Psmd6 |
C |
T |
14: 14,116,526 (GRCm38) |
R63H |
probably damaging |
Het |
| Ptprd |
A |
G |
4: 75,900,927 (GRCm39) |
Y1061H |
probably damaging |
Het |
| Rab23 |
A |
G |
1: 33,763,967 (GRCm39) |
|
probably benign |
Het |
| Rad51ap2 |
GAAAAGGAAACTATTTAAAA |
GAAAA |
12: 11,507,534 (GRCm39) |
|
probably benign |
Het |
| Reg1 |
C |
T |
6: 78,405,200 (GRCm39) |
S141L |
possibly damaging |
Het |
| Rock1 |
A |
T |
18: 10,099,361 (GRCm39) |
I680K |
probably benign |
Het |
| Sez6l2 |
A |
G |
7: 126,569,328 (GRCm39) |
|
probably benign |
Het |
| Slc34a2 |
A |
T |
5: 53,226,722 (GRCm39) |
Q615L |
possibly damaging |
Het |
| Slu7 |
A |
G |
11: 43,334,245 (GRCm39) |
K424E |
probably benign |
Het |
| Tctn2 |
A |
T |
5: 124,741,895 (GRCm39) |
|
noncoding transcript |
Het |
| Tmem87a |
T |
A |
2: 120,234,605 (GRCm39) |
|
probably benign |
Het |
| Trappc4 |
A |
G |
9: 44,315,385 (GRCm39) |
F198L |
probably damaging |
Het |
| Usp33 |
C |
T |
3: 152,073,967 (GRCm39) |
T271I |
probably benign |
Het |
| Vmn1r15 |
T |
A |
6: 57,235,993 (GRCm39) |
I287K |
probably damaging |
Het |
| Vmn2r75 |
A |
C |
7: 85,814,578 (GRCm39) |
I305R |
probably benign |
Het |
| Wdr26 |
T |
C |
1: 181,015,106 (GRCm39) |
|
probably benign |
Het |
| Zzz3 |
T |
C |
3: 152,156,295 (GRCm39) |
S684P |
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 |
|
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 |
|
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'- GTTCAGTCCATGAGGCCGC -3'
(R):5'- GAGGAGTCAGTAGGTTGCGG -3'
Sequencing Primer
(F):5'- CGGATGTCTCAGCAAGTCTTCAG -3'
(R):5'- TCATCAACTTAAGGTAGGGAGTG -3'
|
| Posted On |
2017-02-10 |
Incidental Mutation