Incidental Mutation 'R5284:Smg8'
ID |
402952 |
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 |
042841-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.429)
|
Stock # |
R5284 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
11 |
Chromosomal Location |
86968558-86977600 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 86971137 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Leucine
at position 878
(S878L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000020801
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020801]
[ENSMUST00000143280]
|
AlphaFold |
Q8VE18 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000020801
AA Change: S878L
PolyPhen 2
Score 0.939 (Sensitivity: 0.80; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000020801 Gene: ENSMUSG00000020495 AA Change: S878L
Domain | Start | End | E-Value | Type |
low complexity region
|
19 |
36 |
N/A |
INTRINSIC |
Pfam:DUF2146
|
41 |
985 |
N/A |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000120315
|
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 |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.7%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 49 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcc6 |
T |
A |
7: 45,630,483 (GRCm39) |
Q1259L |
probably benign |
Het |
Arhgef26 |
T |
C |
3: 62,327,052 (GRCm39) |
S522P |
probably damaging |
Het |
Asic5 |
C |
T |
3: 81,915,830 (GRCm39) |
P218L |
probably damaging |
Het |
Atad1 |
T |
C |
19: 32,664,671 (GRCm39) |
M248V |
probably benign |
Het |
Bank1 |
T |
C |
3: 135,769,915 (GRCm39) |
D522G |
probably damaging |
Het |
Bod1l |
G |
A |
5: 41,977,810 (GRCm39) |
S1168L |
probably benign |
Het |
Cactin |
A |
G |
10: 81,159,596 (GRCm39) |
D51G |
probably damaging |
Het |
Camkk1 |
A |
G |
11: 72,928,381 (GRCm39) |
D261G |
probably benign |
Het |
Cep152 |
A |
G |
2: 125,421,941 (GRCm39) |
S930P |
probably damaging |
Het |
Col4a4 |
C |
T |
1: 82,471,312 (GRCm39) |
G681E |
unknown |
Het |
Crim1 |
A |
T |
17: 78,620,695 (GRCm39) |
R378S |
possibly damaging |
Het |
Dcun1d4 |
T |
C |
5: 73,680,025 (GRCm39) |
|
probably null |
Het |
Dhdds |
A |
G |
4: 133,707,523 (GRCm39) |
V187A |
probably benign |
Het |
Ecpas |
C |
T |
4: 58,836,172 (GRCm39) |
E723K |
possibly damaging |
Het |
Egfem1 |
A |
G |
3: 29,704,936 (GRCm39) |
E251G |
possibly damaging |
Het |
Ehhadh |
T |
C |
16: 21,582,094 (GRCm39) |
|
probably null |
Het |
Ep400 |
A |
G |
5: 110,815,990 (GRCm39) |
V2724A |
probably damaging |
Het |
Epb41l4a |
T |
A |
18: 33,931,853 (GRCm39) |
T581S |
probably damaging |
Het |
Erg |
C |
T |
16: 95,260,102 (GRCm39) |
M1I |
probably null |
Het |
Fastkd1 |
T |
C |
2: 69,542,532 (GRCm39) |
T92A |
probably benign |
Het |
Gabpb1 |
T |
C |
2: 126,494,277 (GRCm39) |
H116R |
possibly damaging |
Het |
Gucy2c |
A |
G |
6: 136,740,041 (GRCm39) |
L262P |
possibly damaging |
Het |
Ifi203 |
C |
T |
1: 173,756,274 (GRCm39) |
|
probably benign |
Het |
Kcnk13 |
A |
C |
12: 100,027,548 (GRCm39) |
I208L |
probably benign |
Het |
Klhl7 |
A |
G |
5: 24,364,615 (GRCm39) |
T550A |
probably benign |
Het |
Krtap12-1 |
G |
T |
10: 77,556,799 (GRCm39) |
C114F |
possibly damaging |
Het |
Myh7b |
A |
G |
2: 155,474,234 (GRCm39) |
T1650A |
probably benign |
Het |
Myo19 |
T |
A |
11: 84,776,098 (GRCm39) |
|
probably null |
Het |
Nav1 |
C |
T |
1: 135,377,701 (GRCm39) |
W1656* |
probably null |
Het |
Nup188 |
A |
T |
2: 30,220,647 (GRCm39) |
S907C |
probably damaging |
Het |
Oplah |
A |
T |
15: 76,190,759 (GRCm39) |
H125Q |
probably benign |
Het |
Or6d12 |
T |
A |
6: 116,493,513 (GRCm39) |
Y258* |
probably null |
Het |
Pcnx1 |
A |
T |
12: 81,965,803 (GRCm39) |
T657S |
probably benign |
Het |
Phf14 |
C |
A |
6: 11,997,119 (GRCm39) |
Q796K |
probably damaging |
Het |
Plaa |
T |
C |
4: 94,457,874 (GRCm39) |
I699V |
probably benign |
Het |
Prex2 |
C |
A |
1: 11,336,314 (GRCm39) |
S1504* |
probably null |
Het |
Prpf18 |
G |
A |
2: 4,650,481 (GRCm39) |
Q50* |
probably null |
Het |
Rnf213 |
A |
G |
11: 119,349,692 (GRCm39) |
Y3851C |
possibly damaging |
Het |
Rpgrip1 |
A |
G |
14: 52,386,733 (GRCm39) |
D726G |
probably damaging |
Het |
Sacm1l |
T |
C |
9: 123,415,485 (GRCm39) |
S487P |
probably damaging |
Het |
Setdb1 |
G |
T |
3: 95,234,881 (GRCm39) |
R941S |
probably damaging |
Het |
Skint8 |
C |
A |
4: 111,807,390 (GRCm39) |
L359M |
probably damaging |
Het |
Trpc4 |
T |
A |
3: 54,187,368 (GRCm39) |
V440E |
probably damaging |
Het |
Tsen15 |
A |
G |
1: 152,247,624 (GRCm39) |
S123P |
probably damaging |
Het |
Tspan12 |
G |
T |
6: 21,835,466 (GRCm39) |
A69D |
probably damaging |
Het |
Ubiad1 |
G |
A |
4: 148,520,955 (GRCm39) |
T223M |
probably damaging |
Het |
Ubtfl1 |
A |
T |
9: 18,320,741 (GRCm39) |
K90* |
probably null |
Het |
Wdr19 |
C |
T |
5: 65,382,752 (GRCm39) |
T492I |
probably damaging |
Het |
Zfp423 |
C |
T |
8: 88,508,305 (GRCm39) |
D659N |
possibly 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 |
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'- AGGGAAGGGTTGCATTTCC -3'
(R):5'- GTCATCAGGACTAGAGCTGAAG -3'
Sequencing Primer
(F):5'- AAGGGTTGCATTTCCTACCTGAG -3'
(R):5'- TTAGACACGAACTCCTGGCCTG -3'
|
Posted On |
2016-07-22 |