Incidental Mutation 'R0218:Smg8'
ID |
33673 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Smg8
|
Ensembl Gene |
ENSMUSG00000020495 |
Gene Name |
SMG8 nonsense mediated mRNA decay factor |
Synonyms |
1200011M11Rik, smg-8 homolog, nonsense mediated mRNA decay factor (C. elegans) |
MMRRC Submission |
038467-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.429)
|
Stock # |
R0218 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
11 |
Chromosomal Location |
86968558-86977600 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 86976948 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Proline
at position 211
(L211P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000020801
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020801]
[ENSMUST00000051395]
[ENSMUST00000143280]
|
AlphaFold |
Q8VE18 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000020801
AA Change: L211P
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000020801 Gene: ENSMUSG00000020495 AA Change: L211P
Domain | Start | End | E-Value | Type |
low complexity region
|
19 |
36 |
N/A |
INTRINSIC |
Pfam:DUF2146
|
41 |
985 |
N/A |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000051395
|
SMART Domains |
Protein: ENSMUSP00000060803 Gene: ENSMUSG00000020493
Domain | Start | End | E-Value | Type |
low complexity region
|
3 |
25 |
N/A |
INTRINSIC |
low complexity region
|
28 |
42 |
N/A |
INTRINSIC |
low complexity region
|
135 |
152 |
N/A |
INTRINSIC |
low complexity region
|
184 |
212 |
N/A |
INTRINSIC |
low complexity region
|
350 |
363 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000143280
|
SMART Domains |
Protein: ENSMUSP00000119011 Gene: ENSMUSG00000020495
Domain | Start | End | E-Value | Type |
Pfam:DUF2146
|
1 |
269 |
2.9e-89 |
PFAM |
|
Meta Mutation Damage Score |
0.2181 |
Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.2%
- 10x: 96.0%
- 20x: 91.7%
|
Validation Efficiency |
98% (53/54) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 52 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam34l |
T |
G |
8: 44,079,477 (GRCm39) |
Q249P |
probably benign |
Het |
Adgrv1 |
C |
T |
13: 81,255,017 (GRCm39) |
|
probably null |
Het |
Ccdc110 |
A |
G |
8: 46,387,761 (GRCm39) |
|
probably benign |
Het |
Cd200r1 |
T |
A |
16: 44,609,106 (GRCm39) |
|
probably benign |
Het |
Cdkl1 |
A |
T |
12: 69,836,809 (GRCm39) |
D40E |
probably benign |
Het |
Cdx1 |
A |
G |
18: 61,153,436 (GRCm39) |
|
probably benign |
Het |
Cenpp |
T |
A |
13: 49,801,108 (GRCm39) |
K103N |
possibly damaging |
Het |
Cep162 |
A |
G |
9: 87,093,862 (GRCm39) |
Y839H |
possibly damaging |
Het |
Chac1 |
T |
A |
2: 119,183,941 (GRCm39) |
L181* |
probably null |
Het |
Ciapin1 |
G |
T |
8: 95,554,938 (GRCm39) |
Q173K |
probably damaging |
Het |
Cmklr2 |
T |
A |
1: 63,222,690 (GRCm39) |
N182Y |
probably benign |
Het |
Dgcr2 |
A |
G |
16: 17,667,650 (GRCm39) |
C270R |
probably damaging |
Het |
Dlc1 |
A |
G |
8: 37,317,383 (GRCm39) |
S431P |
probably benign |
Het |
Efcab12 |
T |
C |
6: 115,791,611 (GRCm39) |
|
probably benign |
Het |
Ehbp1 |
A |
T |
11: 22,181,992 (GRCm39) |
|
probably benign |
Het |
Enpp3 |
A |
T |
10: 24,652,767 (GRCm39) |
V730D |
possibly damaging |
Het |
Fam174b |
A |
G |
7: 73,390,512 (GRCm39) |
T88A |
probably benign |
Het |
Fancl |
A |
G |
11: 26,421,337 (GRCm39) |
K364E |
probably benign |
Het |
Fbp2 |
A |
T |
13: 63,001,862 (GRCm39) |
F118I |
probably damaging |
Het |
Galc |
A |
G |
12: 98,188,906 (GRCm39) |
Y402H |
probably damaging |
Het |
Gga2 |
T |
C |
7: 121,598,123 (GRCm39) |
N324D |
possibly damaging |
Het |
Hc |
G |
T |
2: 34,918,086 (GRCm39) |
F732L |
probably damaging |
Het |
Heca |
T |
C |
10: 17,791,463 (GRCm39) |
M198V |
probably benign |
Het |
Herc6 |
C |
A |
6: 57,596,586 (GRCm39) |
H509N |
probably benign |
Het |
Irf2bpl |
A |
T |
12: 86,929,398 (GRCm39) |
M425K |
probably benign |
Het |
Mael |
C |
T |
1: 166,066,159 (GRCm39) |
G26D |
probably damaging |
Het |
Map1a |
A |
G |
2: 121,135,906 (GRCm39) |
T2241A |
probably benign |
Het |
Mcc |
C |
G |
18: 44,652,583 (GRCm39) |
|
probably benign |
Het |
Mdga2 |
A |
G |
12: 66,701,894 (GRCm39) |
S505P |
probably damaging |
Het |
Mdm1 |
A |
G |
10: 117,992,783 (GRCm39) |
|
probably benign |
Het |
Mex3b |
A |
T |
7: 82,518,312 (GRCm39) |
E209V |
probably damaging |
Het |
Mrgprx3-ps |
T |
C |
7: 46,959,154 (GRCm39) |
E279G |
possibly damaging |
Het |
Ms4a20 |
A |
T |
19: 11,093,801 (GRCm39) |
Y10* |
probably null |
Het |
Nfe2l1 |
A |
T |
11: 96,718,439 (GRCm39) |
L32Q |
probably damaging |
Het |
Npas1 |
C |
T |
7: 16,195,818 (GRCm39) |
V285I |
probably benign |
Het |
Or5e1 |
T |
A |
7: 108,354,781 (GRCm39) |
C239* |
probably null |
Het |
Or5h19 |
C |
T |
16: 58,856,456 (GRCm39) |
V215I |
probably benign |
Het |
Or9i14 |
T |
C |
19: 13,792,342 (GRCm39) |
N204S |
probably benign |
Het |
Osr1 |
A |
G |
12: 9,629,639 (GRCm39) |
T171A |
probably benign |
Het |
Ppp3cb |
A |
T |
14: 20,574,044 (GRCm39) |
C265S |
probably damaging |
Het |
Pramel27 |
A |
G |
4: 143,578,401 (GRCm39) |
I220M |
probably damaging |
Het |
Sephs1 |
A |
G |
2: 4,904,371 (GRCm39) |
T250A |
probably benign |
Het |
Simc1 |
T |
C |
13: 54,674,417 (GRCm39) |
Y922H |
probably damaging |
Het |
Slc25a39 |
A |
G |
11: 102,297,056 (GRCm39) |
F56L |
probably benign |
Het |
Sncaip |
A |
G |
18: 53,040,400 (GRCm39) |
S805G |
probably benign |
Het |
Sra1 |
T |
C |
18: 36,809,662 (GRCm39) |
|
probably benign |
Het |
Tas2r104 |
T |
G |
6: 131,662,055 (GRCm39) |
D218A |
probably damaging |
Het |
Unc45b |
A |
G |
11: 82,802,686 (GRCm39) |
|
probably benign |
Het |
Unc79 |
A |
G |
12: 103,075,040 (GRCm39) |
|
probably null |
Het |
Washc2 |
T |
A |
6: 116,225,007 (GRCm39) |
L785* |
probably null |
Het |
Zfp30 |
A |
G |
7: 29,493,063 (GRCm39) |
E439G |
probably damaging |
Het |
Zfp518a |
A |
G |
19: 40,901,072 (GRCm39) |
T334A |
probably benign |
Het |
|
Other mutations in Smg8 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00765:Smg8
|
APN |
11 |
86,968,867 (GRCm39) |
missense |
probably damaging |
0.96 |
IGL01591:Smg8
|
APN |
11 |
86,975,979 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01844:Smg8
|
APN |
11 |
86,971,102 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02634:Smg8
|
APN |
11 |
86,977,498 (GRCm39) |
missense |
probably benign |
|
IGL03170:Smg8
|
APN |
11 |
86,977,434 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03206:Smg8
|
APN |
11 |
86,976,814 (GRCm39) |
splice site |
probably null |
|
R0378:Smg8
|
UTSW |
11 |
86,971,249 (GRCm39) |
missense |
probably damaging |
1.00 |
R0497:Smg8
|
UTSW |
11 |
86,976,910 (GRCm39) |
missense |
possibly damaging |
0.95 |
R0522:Smg8
|
UTSW |
11 |
86,977,288 (GRCm39) |
missense |
probably benign |
|
R0546:Smg8
|
UTSW |
11 |
86,974,439 (GRCm39) |
missense |
possibly damaging |
0.69 |
R0634:Smg8
|
UTSW |
11 |
86,976,934 (GRCm39) |
missense |
possibly damaging |
0.86 |
R1245:Smg8
|
UTSW |
11 |
86,974,436 (GRCm39) |
missense |
possibly damaging |
0.91 |
R1710:Smg8
|
UTSW |
11 |
86,977,113 (GRCm39) |
missense |
probably damaging |
0.98 |
R1726:Smg8
|
UTSW |
11 |
86,971,439 (GRCm39) |
nonsense |
probably null |
|
R1747:Smg8
|
UTSW |
11 |
86,976,129 (GRCm39) |
missense |
possibly damaging |
0.93 |
R1748:Smg8
|
UTSW |
11 |
86,976,594 (GRCm39) |
missense |
probably damaging |
1.00 |
R1909:Smg8
|
UTSW |
11 |
86,971,439 (GRCm39) |
nonsense |
probably null |
|
R1981:Smg8
|
UTSW |
11 |
86,976,157 (GRCm39) |
missense |
probably benign |
0.00 |
R2356:Smg8
|
UTSW |
11 |
86,976,554 (GRCm39) |
missense |
probably benign |
0.00 |
R4459:Smg8
|
UTSW |
11 |
86,976,396 (GRCm39) |
missense |
probably benign |
0.09 |
R4724:Smg8
|
UTSW |
11 |
86,977,047 (GRCm39) |
missense |
probably benign |
0.39 |
R4914:Smg8
|
UTSW |
11 |
86,971,536 (GRCm39) |
missense |
probably damaging |
1.00 |
R5023:Smg8
|
UTSW |
11 |
86,976,963 (GRCm39) |
missense |
probably damaging |
1.00 |
R5284:Smg8
|
UTSW |
11 |
86,971,137 (GRCm39) |
missense |
possibly damaging |
0.94 |
R5368:Smg8
|
UTSW |
11 |
86,971,086 (GRCm39) |
missense |
probably benign |
0.21 |
R5534:Smg8
|
UTSW |
11 |
86,976,296 (GRCm39) |
missense |
probably benign |
0.06 |
R5689:Smg8
|
UTSW |
11 |
86,975,949 (GRCm39) |
missense |
probably damaging |
0.98 |
R6651:Smg8
|
UTSW |
11 |
86,977,372 (GRCm39) |
missense |
probably benign |
0.30 |
R6896:Smg8
|
UTSW |
11 |
86,968,787 (GRCm39) |
missense |
possibly damaging |
0.46 |
R7030:Smg8
|
UTSW |
11 |
86,975,919 (GRCm39) |
missense |
probably damaging |
1.00 |
R7317:Smg8
|
UTSW |
11 |
86,976,391 (GRCm39) |
missense |
possibly damaging |
0.76 |
R8154:Smg8
|
UTSW |
11 |
86,976,063 (GRCm39) |
missense |
possibly damaging |
0.93 |
R8362:Smg8
|
UTSW |
11 |
86,968,881 (GRCm39) |
nonsense |
probably null |
|
R8781:Smg8
|
UTSW |
11 |
86,971,147 (GRCm39) |
missense |
possibly damaging |
0.52 |
R9295:Smg8
|
UTSW |
11 |
86,968,789 (GRCm39) |
missense |
probably benign |
0.00 |
R9360:Smg8
|
UTSW |
11 |
86,968,956 (GRCm39) |
missense |
probably benign |
|
X0028:Smg8
|
UTSW |
11 |
86,976,948 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- GGTCTTTCACGGTACAATGGCTCC -3'
(R):5'- ACTCACAGCTTCTGCGTGCTTG -3'
Sequencing Primer
(F):5'- TACAATGGCTCCTAAGCTGG -3'
(R):5'- TCTGCGTGCTTGTCGGG -3'
|
Posted On |
2013-05-09 |