Incidental Mutation 'R1416:Eri2'
| ID |
159590 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Eri2
|
| Ensembl Gene |
ENSMUSG00000030929 |
| Gene Name |
exoribonuclease 2 |
| Synonyms |
Exod1, 4933424N09Rik |
| MMRRC Submission |
039472-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.285)
|
| Stock # |
R1416 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
119383049-119393283 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 119390397 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Serine
at position 77
(F77S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000120547
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000033218]
[ENSMUST00000033224]
[ENSMUST00000063902]
[ENSMUST00000084644]
[ENSMUST00000106520]
[ENSMUST00000106523]
[ENSMUST00000106529]
[ENSMUST00000150844]
[ENSMUST00000139192]
[ENSMUST00000133758]
|
| AlphaFold |
Q5BKS4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000033218
|
| SMART Domains |
Protein: ENSMUSP00000033218
Gene: ENSMUSG00000030924
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
105 |
116 |
N/A |
INTRINSIC |
|
low complexity region
|
123 |
134 |
N/A |
INTRINSIC |
|
Pfam:RNase_T
|
225 |
330 |
1.4e-12 |
PFAM |
|
Blast:RRM
|
424 |
463 |
5e-17 |
BLAST |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000033224
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000063902
AA Change: F77S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000068633
Gene: ENSMUSG00000030929
AA Change: F77S
| 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: ENSMUST00000084644
|
| SMART Domains |
Protein: ENSMUSP00000081694
Gene: ENSMUSG00000030924
| Domain | Start | End | E-Value | Type |
|---|
|
EXOIII
|
31 |
189 |
2.72e-29 |
SMART |
|
RRM
|
298 |
367 |
3.23e-9 |
SMART |
|
Blast:RRM
|
393 |
437 |
2e-22 |
BLAST |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000106520
|
| SMART Domains |
Protein: ENSMUSP00000102130
Gene: ENSMUSG00000030924
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
105 |
116 |
N/A |
INTRINSIC |
|
low complexity region
|
123 |
134 |
N/A |
INTRINSIC |
|
EXOIII
|
223 |
381 |
2.72e-29 |
SMART |
|
RRM
|
491 |
560 |
3.23e-9 |
SMART |
|
RRM
|
586 |
661 |
3.28e-2 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000106523
AA Change: F77S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000102133
Gene: ENSMUSG00000030929
AA Change: F77S
| Domain | Start | End | E-Value | Type |
|---|
|
EXOIII
|
36 |
235 |
1.41e-13 |
SMART |
|
| 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 damaging
Transcript: ENSMUST00000150844
AA Change: F77S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000120547
Gene: ENSMUSG00000030929
AA Change: F77S
| 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 damaging
Transcript: ENSMUST00000139192
AA Change: F49S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000117940
Gene: ENSMUSG00000030929
AA Change: F49S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:RNase_T
|
21 |
160 |
1.2e-13 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000137015
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000125595
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133926
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000133758
|
| Meta Mutation Damage Score |
0.8800 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.2%
- 10x: 96.0%
- 20x: 92.1%
|
| Validation Efficiency |
94% (63/67) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acad11 |
T |
C |
9: 103,950,822 (GRCm39) |
S49P |
probably damaging |
Het |
| Afm |
T |
C |
5: 90,674,238 (GRCm39) |
I250T |
possibly damaging |
Het |
| Alox5 |
G |
A |
6: 116,400,106 (GRCm39) |
Q278* |
probably null |
Het |
| Anxa7 |
G |
A |
14: 20,512,775 (GRCm39) |
R253C |
probably damaging |
Het |
| Arfgef1 |
T |
A |
1: 10,243,164 (GRCm39) |
T1059S |
probably damaging |
Het |
| Arpp21 |
T |
C |
9: 112,008,197 (GRCm39) |
E101G |
probably damaging |
Het |
| Bcr |
A |
T |
10: 74,897,338 (GRCm39) |
I161F |
possibly damaging |
Het |
| Ccdc141 |
T |
C |
2: 76,845,140 (GRCm39) |
E1309G |
probably damaging |
Het |
| Ccdc39 |
T |
C |
3: 33,880,629 (GRCm39) |
K446R |
probably damaging |
Het |
| Cep41 |
C |
T |
6: 30,657,356 (GRCm39) |
S233N |
probably damaging |
Het |
| Col5a1 |
T |
G |
2: 27,812,076 (GRCm39) |
S53A |
unknown |
Het |
| Cplane1 |
C |
T |
15: 8,276,422 (GRCm39) |
Q2689* |
probably null |
Het |
| Efnb2 |
A |
G |
8: 8,672,329 (GRCm39) |
|
probably null |
Het |
| Epb41l5 |
T |
C |
1: 119,477,606 (GRCm39) |
|
probably benign |
Het |
| Ern1 |
C |
T |
11: 106,312,806 (GRCm39) |
|
probably benign |
Het |
| Eya3 |
T |
C |
4: 132,434,440 (GRCm39) |
|
probably benign |
Het |
| Icos |
T |
C |
1: 61,033,802 (GRCm39) |
L144P |
probably damaging |
Het |
| Ipo8 |
A |
G |
6: 148,690,591 (GRCm39) |
V717A |
probably benign |
Het |
| Lrp12 |
T |
C |
15: 39,742,019 (GRCm39) |
E232G |
probably damaging |
Het |
| Lrp1b |
A |
G |
2: 40,888,228 (GRCm39) |
I2344T |
probably damaging |
Het |
| Mettl5 |
A |
T |
2: 69,701,633 (GRCm39) |
F207I |
possibly damaging |
Het |
| Mtor |
G |
T |
4: 148,575,871 (GRCm39) |
E1342* |
probably null |
Het |
| Nrap |
A |
G |
19: 56,315,725 (GRCm39) |
Y1360H |
possibly damaging |
Het |
| Nsun7 |
T |
C |
5: 66,418,423 (GRCm39) |
V51A |
probably damaging |
Het |
| Or5an11 |
C |
A |
19: 12,246,258 (GRCm39) |
F221L |
probably benign |
Het |
| Or5p5 |
T |
C |
7: 107,414,469 (GRCm39) |
L228P |
probably damaging |
Het |
| Or8g18 |
G |
C |
9: 39,149,547 (GRCm39) |
P58A |
probably benign |
Het |
| Or8k27 |
T |
C |
2: 86,275,664 (GRCm39) |
I221V |
probably benign |
Het |
| Or9m1b |
T |
A |
2: 87,836,915 (GRCm39) |
Y60F |
probably damaging |
Het |
| Otud6b |
A |
C |
4: 14,818,473 (GRCm39) |
L143V |
probably damaging |
Het |
| Pabir2 |
T |
C |
X: 52,335,023 (GRCm39) |
*256W |
probably null |
Het |
| Pp2d1 |
T |
C |
17: 53,822,835 (GRCm39) |
N77S |
probably benign |
Het |
| Ppp4r3c2 |
A |
T |
X: 88,797,283 (GRCm39) |
M372L |
probably benign |
Het |
| Ptpro |
T |
A |
6: 137,420,592 (GRCm39) |
V1007D |
probably damaging |
Het |
| Pwwp4a |
G |
T |
X: 72,171,261 (GRCm39) |
G218C |
probably damaging |
Het |
| Raly |
G |
T |
2: 154,699,273 (GRCm39) |
G26* |
probably null |
Het |
| Rarb |
T |
C |
14: 16,435,177 (GRCm38) |
M290V |
possibly damaging |
Het |
| Rusc2 |
A |
G |
4: 43,421,617 (GRCm39) |
E679G |
possibly damaging |
Het |
| Scap |
T |
C |
9: 110,213,841 (GRCm39) |
V1268A |
probably damaging |
Het |
| Setd1b |
C |
T |
5: 123,298,748 (GRCm39) |
|
probably benign |
Het |
| Shisa3 |
C |
G |
5: 67,768,777 (GRCm39) |
P226A |
probably benign |
Het |
| Smox |
C |
T |
2: 131,364,051 (GRCm39) |
S481F |
probably damaging |
Het |
| Stard9 |
T |
C |
2: 120,531,453 (GRCm39) |
V2570A |
probably benign |
Het |
| Sucla2 |
C |
T |
14: 73,798,074 (GRCm39) |
|
probably benign |
Het |
| Sult4a1 |
C |
T |
15: 83,970,847 (GRCm39) |
R186Q |
probably benign |
Het |
| Taf2 |
G |
T |
15: 54,901,806 (GRCm39) |
A796E |
possibly damaging |
Het |
| Taf4b |
T |
C |
18: 14,954,484 (GRCm39) |
|
probably benign |
Het |
| Thbs4 |
G |
T |
13: 92,898,041 (GRCm39) |
Q593K |
probably benign |
Het |
| Tigd3 |
T |
C |
19: 5,941,753 (GRCm39) |
D459G |
probably benign |
Het |
| Tmem168 |
A |
T |
6: 13,591,400 (GRCm39) |
L472Q |
probably damaging |
Het |
| Tmem169 |
G |
T |
1: 72,339,875 (GRCm39) |
V102F |
probably damaging |
Het |
| Tmem241 |
T |
C |
18: 12,126,631 (GRCm39) |
T274A |
probably benign |
Het |
| Trip10 |
A |
G |
17: 57,557,800 (GRCm39) |
Y28C |
probably damaging |
Het |
| Ubp1 |
T |
C |
9: 113,799,239 (GRCm39) |
V398A |
probably benign |
Het |
| Ubr3 |
A |
G |
2: 69,775,415 (GRCm39) |
Y567C |
probably damaging |
Het |
| Uckl1 |
A |
T |
2: 181,211,362 (GRCm39) |
M489K |
possibly damaging |
Het |
| Ush2a |
C |
T |
1: 188,169,080 (GRCm39) |
P1074S |
probably damaging |
Het |
| Vmn1r62 |
T |
C |
7: 5,678,904 (GRCm39) |
V195A |
probably damaging |
Het |
| Vmn2r63 |
T |
A |
7: 42,577,339 (GRCm39) |
I400L |
probably benign |
Het |
| Vmn2r67 |
T |
A |
7: 84,800,824 (GRCm39) |
I371F |
probably benign |
Het |
| Wdr64 |
A |
G |
1: 175,633,568 (GRCm39) |
T940A |
probably benign |
Het |
| Zfp105 |
A |
T |
9: 122,759,742 (GRCm39) |
Y471F |
probably damaging |
Het |
| Zfp287 |
A |
T |
11: 62,605,166 (GRCm39) |
H580Q |
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 |
|
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 |
|
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'- GGGACACCATTTCTCCTAACACCTAATC -3'
(R):5'- GCTTCTCACTGCTTTGGGTATTGGA -3'
Sequencing Primer
(F):5'- CACCTAATCAACTTAATTTCAAGTGG -3'
(R):5'- ctcaaactcagaaatccgcc -3'
|
| Posted On |
2014-03-14 |
Incidental Mutation