Incidental Mutation 'R1245:Smg8'
| ID |
152135 |
| 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 |
039312-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.429)
|
| Stock # |
R1245 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
86968558-86977600 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 86974436 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 632
(D632G)
|
| 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: D632G
PolyPhen 2
Score 0.910 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000020801
Gene: ENSMUSG00000020495
AA Change: D632G
| 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 |
possibly damaging
Transcript: ENSMUST00000143280
AA Change: D175G
PolyPhen 2
Score 0.611 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000119011
Gene: ENSMUSG00000020495
AA Change: D175G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF2146
|
1 |
269 |
2.9e-89 |
PFAM |
|
| Meta Mutation Damage Score |
0.2922 |
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.2%
- 10x: 95.9%
- 20x: 91.5%
|
| Validation Efficiency |
98% (41/42) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adcy1 |
T |
A |
11: 7,119,410 (GRCm39) |
|
probably benign |
Het |
| Ahnak |
A |
G |
19: 8,981,533 (GRCm39) |
N939S |
probably benign |
Het |
| Cblb |
C |
A |
16: 51,867,550 (GRCm39) |
|
probably benign |
Het |
| Cd22 |
A |
G |
7: 30,569,308 (GRCm39) |
S603P |
probably damaging |
Het |
| Col6a6 |
G |
A |
9: 105,626,109 (GRCm39) |
R1515C |
possibly damaging |
Het |
| Csf1r |
C |
A |
18: 61,247,884 (GRCm39) |
D317E |
probably benign |
Het |
| Dlg2 |
T |
C |
7: 92,091,803 (GRCm39) |
|
probably benign |
Het |
| Enpp3 |
G |
A |
10: 24,660,851 (GRCm39) |
|
probably benign |
Het |
| G530012D18Rik |
CAGAGAGA |
CAGAGAGAGA |
1: 85,504,945 (GRCm39) |
|
probably null |
Het |
| Gm5828 |
A |
T |
1: 16,839,353 (GRCm39) |
|
noncoding transcript |
Het |
| Gpr137c |
T |
C |
14: 45,516,522 (GRCm39) |
|
probably benign |
Het |
| Ibtk |
A |
G |
9: 85,602,795 (GRCm39) |
|
probably null |
Het |
| Kctd7 |
A |
G |
5: 130,177,058 (GRCm39) |
H96R |
possibly damaging |
Het |
| Lmcd1 |
T |
A |
6: 112,292,673 (GRCm39) |
V175E |
probably benign |
Het |
| Lrfn2 |
A |
T |
17: 49,403,277 (GRCm39) |
|
probably null |
Het |
| Ltbp1 |
C |
T |
17: 75,634,189 (GRCm39) |
|
probably benign |
Het |
| Myc |
A |
G |
15: 61,859,746 (GRCm39) |
I140V |
probably damaging |
Het |
| Nckap1l |
A |
G |
15: 103,364,352 (GRCm39) |
E100G |
probably damaging |
Het |
| Ncs1 |
A |
G |
2: 31,174,705 (GRCm39) |
N143S |
probably benign |
Het |
| Nmnat2 |
A |
G |
1: 152,987,949 (GRCm39) |
D238G |
probably benign |
Het |
| Or10ag57 |
T |
A |
2: 87,218,553 (GRCm39) |
V168E |
probably benign |
Het |
| Ppp2r3d |
G |
A |
9: 101,071,593 (GRCm39) |
T675I |
probably damaging |
Het |
| Psma2 |
A |
G |
13: 14,787,876 (GRCm39) |
Y6C |
probably damaging |
Het |
| Rspo4 |
G |
A |
2: 151,709,846 (GRCm39) |
E84K |
probably damaging |
Het |
| Shank2 |
G |
A |
7: 143,965,457 (GRCm39) |
V1015I |
probably benign |
Het |
| Slc35e1 |
T |
C |
8: 73,246,415 (GRCm39) |
|
probably benign |
Het |
| Sppl2a |
A |
T |
2: 126,755,441 (GRCm39) |
|
probably benign |
Het |
| Svep1 |
A |
G |
4: 58,066,427 (GRCm39) |
|
probably null |
Het |
| Ttn |
T |
A |
2: 76,776,044 (GRCm39) |
K1666M |
probably damaging |
Het |
| Ulk1 |
A |
G |
5: 110,937,206 (GRCm39) |
|
probably null |
Het |
| Unc80 |
A |
G |
1: 66,594,254 (GRCm39) |
D1211G |
possibly damaging |
Het |
| Vmn2r112 |
A |
G |
17: 22,822,228 (GRCm39) |
Q302R |
probably benign |
Het |
| Vmn2r6 |
A |
G |
3: 64,464,211 (GRCm39) |
S208P |
possibly damaging |
Het |
| Wnk1 |
C |
T |
6: 119,925,418 (GRCm39) |
V1847I |
probably benign |
Het |
| Zfp653 |
A |
T |
9: 21,967,718 (GRCm39) |
I529N |
probably damaging |
Het |
| Zfp948 |
T |
C |
17: 21,807,104 (GRCm39) |
S99P |
probably damaging |
Het |
| Zfyve9 |
A |
G |
4: 108,550,508 (GRCm39) |
|
probably benign |
Het |
| Zscan29 |
T |
C |
2: 120,996,984 (GRCm39) |
T246A |
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 |
|
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'- GTGGTGAATATAAGCACACGAATGCAAA -3'
(R):5'- GTTACACTTTCCAGGAGAAAAGCCAGA -3'
Sequencing Primer
(F):5'- cacccgactgctcttcc -3'
(R):5'- GAGGCAGATAGGAACCCTCC -3'
|
| Posted On |
2014-01-29 |
Incidental Mutation