Incidental Mutation 'R6651:Smg8'
ID |
527801 |
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 |
044772-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.429)
|
Stock # |
R6651 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
11 |
Chromosomal Location |
86968558-86977600 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 86977372 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 70
(T70A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000020801
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020801]
[ENSMUST00000051395]
[ENSMUST00000143280]
|
AlphaFold |
Q8VE18 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000020801
AA Change: T70A
PolyPhen 2
Score 0.301 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000020801 Gene: ENSMUSG00000020495 AA Change: T70A
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 |
0.0622 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.1%
- 20x: 94.7%
|
Validation Efficiency |
98% (50/51) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 50 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4931406B18Rik |
A |
C |
7: 43,147,496 (GRCm39) |
S198A |
possibly damaging |
Het |
Adamts15 |
A |
T |
9: 30,833,448 (GRCm39) |
I29N |
probably damaging |
Het |
Ankrd61 |
A |
T |
5: 143,830,438 (GRCm39) |
I33N |
probably damaging |
Het |
Arl6ip1 |
C |
T |
7: 117,728,708 (GRCm39) |
R7H |
probably benign |
Het |
Atp8a2 |
A |
T |
14: 60,011,470 (GRCm39) |
D946E |
probably benign |
Het |
Cc2d2b |
A |
T |
19: 40,766,573 (GRCm39) |
Q114L |
probably damaging |
Het |
Ccdc163 |
T |
A |
4: 116,566,261 (GRCm39) |
S16R |
possibly damaging |
Het |
Chil6 |
C |
T |
3: 106,311,576 (GRCm39) |
C68Y |
probably damaging |
Het |
Cngb3 |
G |
T |
4: 19,375,231 (GRCm39) |
R287L |
probably benign |
Het |
Crem |
C |
T |
18: 3,325,428 (GRCm39) |
R16H |
probably benign |
Het |
Cyp4f16 |
C |
T |
17: 32,763,118 (GRCm39) |
R188C |
probably benign |
Het |
Dap |
A |
G |
15: 31,273,353 (GRCm39) |
D46G |
probably damaging |
Het |
Dnah7c |
C |
A |
1: 46,688,500 (GRCm39) |
T1890K |
probably benign |
Het |
Dnah7c |
A |
G |
1: 46,688,511 (GRCm39) |
S1894G |
probably benign |
Het |
Enam |
T |
C |
5: 88,650,776 (GRCm39) |
Y687H |
probably damaging |
Het |
Fzd4 |
A |
T |
7: 89,054,010 (GRCm39) |
D39V |
possibly damaging |
Het |
Ggta1 |
G |
T |
2: 35,292,306 (GRCm39) |
H334N |
probably benign |
Het |
Golga3 |
C |
T |
5: 110,365,996 (GRCm39) |
R1254* |
probably null |
Het |
Gpt2 |
G |
A |
8: 86,244,681 (GRCm39) |
E325K |
probably benign |
Het |
Helz2 |
C |
T |
2: 180,881,350 (GRCm39) |
W377* |
probably null |
Het |
Hfm1 |
T |
C |
5: 106,995,553 (GRCm39) |
D1286G |
probably benign |
Het |
Hhatl |
T |
C |
9: 121,613,768 (GRCm39) |
R425G |
probably damaging |
Het |
Hivep3 |
G |
A |
4: 119,980,146 (GRCm39) |
R1728H |
probably damaging |
Het |
Hyal1 |
A |
G |
9: 107,456,570 (GRCm39) |
Y419C |
probably damaging |
Het |
Ighv8-12 |
A |
T |
12: 115,611,644 (GRCm39) |
D84E |
possibly damaging |
Het |
Itln1 |
A |
G |
1: 171,345,940 (GRCm39) |
F271L |
possibly damaging |
Het |
Klra7 |
C |
A |
6: 130,206,908 (GRCm39) |
L64F |
probably benign |
Het |
Kmt2a |
A |
T |
9: 44,740,108 (GRCm39) |
C1878* |
probably null |
Het |
Mia2 |
C |
A |
12: 59,201,148 (GRCm39) |
Q825K |
possibly damaging |
Het |
Mmp12 |
C |
A |
9: 7,355,345 (GRCm39) |
P294Q |
possibly damaging |
Het |
Nedd4 |
A |
G |
9: 72,638,553 (GRCm39) |
N480S |
possibly damaging |
Het |
Or4c12b |
A |
T |
2: 89,647,240 (GRCm39) |
E190V |
probably benign |
Het |
Or4e5 |
C |
T |
14: 52,728,250 (GRCm39) |
R57Q |
probably benign |
Het |
Pax6 |
T |
A |
2: 105,516,175 (GRCm39) |
M151K |
probably benign |
Het |
Pgm2 |
A |
G |
5: 64,269,437 (GRCm39) |
Y508C |
probably benign |
Het |
Ptpn20 |
T |
C |
14: 33,354,897 (GRCm39) |
F324S |
probably damaging |
Het |
Recql |
A |
G |
6: 142,310,160 (GRCm39) |
|
probably null |
Het |
Rerg |
A |
G |
6: 137,033,384 (GRCm39) |
V97A |
probably damaging |
Het |
Rffl |
C |
A |
11: 82,703,605 (GRCm39) |
C106F |
probably damaging |
Het |
Scaper |
T |
G |
9: 55,765,788 (GRCm39) |
N499T |
probably benign |
Het |
Sfxn3 |
G |
A |
19: 45,038,354 (GRCm39) |
|
probably null |
Het |
Slc36a4 |
A |
G |
9: 15,634,874 (GRCm39) |
S139G |
probably benign |
Het |
Slco2b1 |
T |
A |
7: 99,316,376 (GRCm39) |
M385L |
probably benign |
Het |
Spats2l |
A |
T |
1: 57,985,336 (GRCm39) |
K463M |
probably damaging |
Het |
Thbs4 |
T |
C |
13: 92,893,044 (GRCm39) |
I715V |
probably benign |
Het |
Tmem234 |
T |
A |
4: 129,501,264 (GRCm39) |
M113K |
possibly damaging |
Het |
Vmn2r10 |
T |
C |
5: 109,143,488 (GRCm39) |
I821V |
probably null |
Het |
Vmn2r116 |
A |
T |
17: 23,607,805 (GRCm39) |
K458* |
probably null |
Het |
Vmn2r76 |
T |
A |
7: 85,878,059 (GRCm39) |
N446I |
possibly damaging |
Het |
Vmn2r95 |
T |
A |
17: 18,660,622 (GRCm39) |
Y345N |
probably damaging |
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 |
|
R0218:Smg8
|
UTSW |
11 |
86,976,948 (GRCm39) |
missense |
probably damaging |
1.00 |
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 |
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'- CTGCAAAAGACTGAAGTCCTGGG -3'
(R):5'- AAGCTCTTTCTCCGCCATGG -3'
Sequencing Primer
(F):5'- ACCTGGCTCAGCTCGGTTAC -3'
(R):5'- CGAGCTGCTCATGGGGG -3'
|
Posted On |
2018-07-23 |