Incidental Mutation 'R6937:Eri2'
| ID |
540343 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Eri2
|
| Ensembl Gene |
ENSMUSG00000030929 |
| Gene Name |
exoribonuclease 2 |
| Synonyms |
Exod1, 4933424N09Rik |
| MMRRC Submission |
045051-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.251)
|
| Stock # |
R6937 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
119383049-119393283 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 119386012 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Glutamic Acid
at position 228
(K228E)
|
| 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 |
possibly damaging
Transcript: ENSMUST00000063902
AA Change: K228E
PolyPhen 2
Score 0.938 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000068633
Gene: ENSMUSG00000030929
AA Change: K228E
| Domain | Start | End | E-Value | Type |
|---|
|
EXOIII
|
36 |
235 |
1.41e-13 |
SMART |
|
transmembrane domain
|
245 |
262 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000106523
AA Change: K228E
PolyPhen 2
Score 0.819 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000102133
Gene: ENSMUSG00000030929
AA Change: K228E
| 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 damaging
Transcript: ENSMUST00000150844
AA Change: K228E
PolyPhen 2
Score 0.958 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000120547
Gene: ENSMUSG00000030929
AA Change: K228E
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.1%
- 20x: 97.1%
|
| Validation Efficiency |
98% (42/43) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ankrd52 |
T |
C |
10: 128,222,889 (GRCm39) |
V613A |
probably benign |
Het |
| Cdh23 |
A |
T |
10: 60,322,893 (GRCm39) |
L337Q |
probably damaging |
Het |
| Chrna6 |
A |
G |
8: 27,897,055 (GRCm39) |
L274P |
probably damaging |
Het |
| Ciita |
G |
A |
16: 10,330,355 (GRCm39) |
|
probably null |
Het |
| Csnka2ip |
A |
T |
16: 64,299,058 (GRCm39) |
|
probably benign |
Het |
| Ddx60 |
G |
A |
8: 62,490,103 (GRCm39) |
D1691N |
probably damaging |
Het |
| Dnah7b |
T |
C |
1: 46,234,280 (GRCm39) |
I1441T |
probably damaging |
Het |
| Dock4 |
T |
C |
12: 40,884,634 (GRCm39) |
S1713P |
probably benign |
Het |
| Ep400 |
T |
C |
5: 110,859,018 (GRCm39) |
|
probably benign |
Het |
| Epn1 |
T |
C |
7: 5,092,943 (GRCm39) |
I85T |
probably damaging |
Het |
| Garem1 |
C |
T |
18: 21,280,827 (GRCm39) |
A510T |
probably benign |
Het |
| Gfm2 |
T |
A |
13: 97,299,572 (GRCm39) |
|
probably null |
Het |
| Hnrnpd |
T |
C |
5: 100,111,629 (GRCm39) |
T321A |
probably benign |
Het |
| Htr2a |
A |
T |
14: 74,882,604 (GRCm39) |
I197F |
probably damaging |
Het |
| Krtap2-4 |
T |
A |
11: 99,505,299 (GRCm39) |
|
probably benign |
Het |
| Lcn3 |
C |
A |
2: 25,657,823 (GRCm39) |
Y179* |
probably null |
Het |
| Mak |
A |
T |
13: 41,201,578 (GRCm39) |
M261K |
probably damaging |
Het |
| Marchf7 |
A |
G |
2: 60,071,310 (GRCm39) |
T605A |
probably damaging |
Het |
| Mcm4 |
A |
C |
16: 15,454,199 (GRCm39) |
F83V |
probably benign |
Het |
| Myo18b |
T |
C |
5: 112,950,258 (GRCm39) |
N1546S |
probably benign |
Het |
| Nckap1 |
T |
A |
2: 80,339,060 (GRCm39) |
K989N |
probably damaging |
Het |
| Ndufaf5 |
A |
G |
2: 140,023,522 (GRCm39) |
D119G |
probably damaging |
Het |
| Or7g28 |
A |
T |
9: 19,271,985 (GRCm39) |
V222D |
probably damaging |
Het |
| Pcdh1 |
T |
C |
18: 38,336,528 (GRCm39) |
T36A |
possibly damaging |
Het |
| Pitpna |
C |
T |
11: 75,494,557 (GRCm39) |
T100I |
possibly damaging |
Het |
| Pmf1 |
A |
T |
3: 88,306,496 (GRCm39) |
L102Q |
probably damaging |
Het |
| Rftn2 |
T |
C |
1: 55,233,508 (GRCm39) |
|
probably null |
Het |
| Robo3 |
A |
G |
9: 37,341,176 (GRCm39) |
L10P |
probably benign |
Het |
| Serpinb6a |
T |
C |
13: 34,102,801 (GRCm39) |
I241V |
possibly damaging |
Het |
| St14 |
A |
T |
9: 31,040,956 (GRCm39) |
|
probably null |
Het |
| Stat6 |
T |
C |
10: 127,494,571 (GRCm39) |
|
probably null |
Het |
| Tdpoz6 |
T |
C |
3: 93,599,523 (GRCm39) |
N282S |
probably benign |
Het |
| Tdpoz8 |
A |
G |
3: 92,981,417 (GRCm39) |
H145R |
probably benign |
Het |
| Tenm4 |
G |
A |
7: 96,202,703 (GRCm39) |
R106H |
probably benign |
Het |
| Tgfbrap1 |
A |
T |
1: 43,091,064 (GRCm39) |
V687E |
probably damaging |
Het |
| Trim30d |
A |
T |
7: 104,132,634 (GRCm39) |
S68T |
probably damaging |
Het |
| Ttn |
A |
G |
2: 76,663,253 (GRCm39) |
|
probably benign |
Het |
| Ugt3a1 |
A |
T |
15: 9,292,158 (GRCm39) |
D97V |
probably benign |
Het |
| Ugt8a |
G |
A |
3: 125,709,250 (GRCm39) |
|
probably benign |
Het |
| Vmn1r184 |
A |
T |
7: 25,966,750 (GRCm39) |
K165N |
probably benign |
Het |
| Vmn2r86 |
T |
A |
10: 130,284,523 (GRCm39) |
I523F |
probably damaging |
Het |
| Wapl |
G |
A |
14: 34,444,311 (GRCm39) |
V588I |
probably benign |
Het |
| Wdr7 |
C |
T |
18: 63,924,938 (GRCm39) |
P974S |
probably benign |
Het |
| Zfp975 |
T |
C |
7: 42,314,480 (GRCm39) |
D31G |
possibly 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 |
|
R5884:Eri2
|
UTSW |
7 |
119,371,552 (GRCm39) |
makesense |
probably null |
|
|
R5927:Eri2
|
UTSW |
7 |
119,385,291 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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'- AAATCCATTGCTTTAGGAACCG -3'
(R):5'- TCCTCACAGGCCAATCATGATG -3'
Sequencing Primer
(F):5'- GAACATGACTACTACCCGA -3'
(R):5'- CAGGCCAATCATGATGATTAAAATC -3'
|
| Posted On |
2018-11-06 |
Incidental Mutation