Incidental Mutation 'IGL00765:Smg8'
| ID |
14158 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| 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) |
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.461)
|
| Stock # |
IGL00765
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
86968558-86977600 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 86968867 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 963
(E963G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000020801
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020801]
[ENSMUST00000020804]
[ENSMUST00000143280]
|
| AlphaFold |
Q8VE18 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000020801
AA Change: E963G
PolyPhen 2
Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000020801
Gene: ENSMUSG00000020495
AA Change: E963G
| 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: ENSMUST00000020804
|
| SMART Domains |
Protein: ENSMUSP00000020804
Gene: ENSMUSG00000061666
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
5 |
24 |
N/A |
INTRINSIC |
|
Pfam:GDPD
|
45 |
204 |
1.2e-26 |
PFAM |
|
low complexity region
|
206 |
217 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000120315
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134275
|
| 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 |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 22 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc1 |
C |
T |
16: 14,229,372 (GRCm39) |
T368I |
probably damaging |
Het |
| Bub1 |
T |
A |
2: 127,671,392 (GRCm39) |
N64I |
probably damaging |
Het |
| Ccdc97 |
A |
G |
7: 25,414,277 (GRCm39) |
L159P |
probably damaging |
Het |
| Chrnd |
T |
C |
1: 87,123,431 (GRCm39) |
V214A |
probably damaging |
Het |
| Csf2rb2 |
A |
G |
15: 78,176,916 (GRCm39) |
S185P |
probably benign |
Het |
| Dmxl2 |
A |
G |
9: 54,322,706 (GRCm39) |
|
probably benign |
Het |
| Eif3e |
A |
T |
15: 43,141,745 (GRCm39) |
M55K |
probably benign |
Het |
| Ercc6l2 |
T |
C |
13: 63,996,586 (GRCm39) |
V365A |
possibly damaging |
Het |
| Fndc1 |
A |
G |
17: 7,991,525 (GRCm39) |
S724P |
unknown |
Het |
| Htt |
T |
C |
5: 35,034,769 (GRCm39) |
|
probably benign |
Het |
| Ints4 |
C |
T |
7: 97,184,412 (GRCm39) |
T839I |
probably damaging |
Het |
| Lrp6 |
T |
G |
6: 134,518,817 (GRCm39) |
T83P |
probably benign |
Het |
| Lrrc8d |
C |
T |
5: 105,959,818 (GRCm39) |
T76I |
possibly damaging |
Het |
| Nae1 |
T |
C |
8: 105,244,582 (GRCm39) |
|
probably benign |
Het |
| Nlrp14 |
T |
C |
7: 106,789,346 (GRCm39) |
V45A |
possibly damaging |
Het |
| Nrp2 |
C |
A |
1: 62,743,410 (GRCm39) |
S16* |
probably null |
Het |
| Nup155 |
T |
C |
15: 8,182,712 (GRCm39) |
I1225T |
probably benign |
Het |
| Pnpla7 |
G |
T |
2: 24,870,236 (GRCm39) |
A43S |
probably damaging |
Het |
| Prcp |
T |
C |
7: 92,582,307 (GRCm39) |
S431P |
probably benign |
Het |
| Rbck1 |
A |
G |
2: 152,172,874 (GRCm39) |
|
probably benign |
Het |
| Tanc1 |
A |
C |
2: 59,636,645 (GRCm39) |
M836L |
probably benign |
Het |
| Tnpo1 |
A |
G |
13: 98,986,612 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Smg8 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
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 |
|
| Posted On |
2012-12-06 |
Incidental Mutation