Incidental Mutation 'IGL01591:Smg8'
| ID |
91587 |
| 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: 0.429)
|
| Stock # |
IGL01591
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
86968558-86977600 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 86975979 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 77
(V77A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000119011
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020801]
[ENSMUST00000051395]
[ENSMUST00000143280]
|
| AlphaFold |
Q8VE18 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000020801
AA Change: V534A
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000020801
Gene: ENSMUSG00000020495
AA Change: V534A
| 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 damaging
Transcript: ENSMUST00000143280
AA Change: V77A
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000119011
Gene: ENSMUSG00000020495
AA Change: V77A
| 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: 24 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acaca |
G |
T |
11: 84,134,146 (GRCm39) |
G420W |
probably damaging |
Het |
| Adamts17 |
G |
A |
7: 66,654,144 (GRCm39) |
R458H |
probably damaging |
Het |
| Adprs |
T |
C |
4: 126,212,274 (GRCm39) |
T82A |
probably damaging |
Het |
| Ccdc158 |
T |
A |
5: 92,809,900 (GRCm39) |
I203L |
probably benign |
Het |
| Commd10 |
C |
A |
18: 47,096,735 (GRCm39) |
S47R |
probably benign |
Het |
| Crb1 |
T |
C |
1: 139,165,077 (GRCm39) |
T1016A |
probably damaging |
Het |
| Crhbp |
T |
A |
13: 95,580,295 (GRCm39) |
I95F |
probably damaging |
Het |
| Cyp3a11 |
A |
T |
5: 145,812,291 (GRCm39) |
|
probably benign |
Het |
| Dsel |
A |
G |
1: 111,787,425 (GRCm39) |
Y1037H |
probably benign |
Het |
| Epha1 |
T |
C |
6: 42,337,485 (GRCm39) |
D898G |
probably damaging |
Het |
| Esr2 |
T |
A |
12: 76,168,498 (GRCm39) |
|
probably benign |
Het |
| Exosc10 |
T |
A |
4: 148,647,344 (GRCm39) |
|
probably benign |
Het |
| Fat4 |
A |
T |
3: 39,064,524 (GRCm39) |
R4827* |
probably null |
Het |
| Gm11596 |
A |
T |
11: 99,683,624 (GRCm39) |
C165* |
probably null |
Het |
| Heatr5b |
A |
G |
17: 79,115,901 (GRCm39) |
S852P |
probably benign |
Het |
| Mcm3ap |
C |
T |
10: 76,306,639 (GRCm39) |
P251S |
probably benign |
Het |
| Nmur2 |
A |
G |
11: 55,917,825 (GRCm39) |
V388A |
probably benign |
Het |
| Parp14 |
T |
C |
16: 35,678,877 (GRCm39) |
T364A |
possibly damaging |
Het |
| Rarb |
T |
A |
14: 16,434,207 (GRCm38) |
I370F |
possibly damaging |
Het |
| Rnf32 |
T |
A |
5: 29,429,272 (GRCm39) |
I283N |
probably damaging |
Het |
| Tnn |
T |
C |
1: 159,953,144 (GRCm39) |
E632G |
probably damaging |
Het |
| Trip11 |
A |
T |
12: 101,849,604 (GRCm39) |
S1487T |
probably damaging |
Het |
| Vmn2r58 |
T |
C |
7: 41,514,753 (GRCm39) |
K72R |
probably benign |
Het |
| Vmn2r92 |
A |
G |
17: 18,405,423 (GRCm39) |
I856V |
unknown |
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 |
|
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 |
2013-12-09 |
Incidental Mutation