Incidental Mutation 'R4459:Smg8'
| ID |
330068 |
| 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 |
041579-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.429)
|
| Stock # |
R4459 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
86968558-86977600 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 86976396 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 395
(D395G)
|
| 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: D395G
PolyPhen 2
Score 0.092 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000020801
Gene: ENSMUSG00000020495
AA Change: D395G
| 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 |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.6%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc4 |
C |
T |
14: 118,836,805 (GRCm39) |
R652Q |
probably benign |
Het |
| Anks1b |
G |
A |
10: 90,346,706 (GRCm39) |
V669I |
probably damaging |
Het |
| Arsi |
G |
A |
18: 61,049,723 (GRCm39) |
G202E |
probably benign |
Het |
| Ash1l |
G |
A |
3: 88,873,541 (GRCm39) |
R108Q |
probably damaging |
Het |
| BC049715 |
G |
A |
6: 136,817,050 (GRCm39) |
A97T |
probably damaging |
Het |
| Cyp11b1 |
T |
A |
15: 74,708,208 (GRCm39) |
E422D |
probably damaging |
Het |
| Dmxl1 |
A |
T |
18: 50,094,283 (GRCm39) |
I2920F |
possibly damaging |
Het |
| Dnaaf6rt |
A |
G |
1: 31,262,405 (GRCm39) |
D129G |
probably damaging |
Het |
| Efcab6 |
C |
T |
15: 83,788,490 (GRCm39) |
G935S |
probably damaging |
Het |
| Esp3 |
C |
G |
17: 40,944,478 (GRCm39) |
T40S |
probably null |
Het |
| Gc |
T |
C |
5: 89,589,146 (GRCm39) |
M206V |
probably benign |
Het |
| Gm15446 |
A |
T |
5: 110,091,107 (GRCm39) |
H453L |
probably benign |
Het |
| Hes6 |
A |
G |
1: 91,340,061 (GRCm39) |
S132P |
probably damaging |
Het |
| Ighg2b |
T |
C |
12: 113,270,578 (GRCm39) |
Y184C |
unknown |
Het |
| Itga2 |
C |
G |
13: 114,980,019 (GRCm39) |
D1061H |
probably damaging |
Het |
| Kcnj5 |
A |
G |
9: 32,233,691 (GRCm39) |
I208T |
probably damaging |
Het |
| Klhl26 |
T |
C |
8: 70,904,194 (GRCm39) |
Y538C |
probably damaging |
Het |
| Letm2 |
A |
G |
8: 26,076,715 (GRCm39) |
C296R |
probably damaging |
Het |
| Lrfn4 |
C |
T |
19: 4,662,662 (GRCm39) |
V452I |
probably benign |
Het |
| Mypn |
A |
G |
10: 63,028,211 (GRCm39) |
V284A |
probably damaging |
Het |
| Or14j9 |
G |
A |
17: 37,874,365 (GRCm39) |
T279I |
probably damaging |
Het |
| Or2y1e |
A |
T |
11: 49,218,703 (GRCm39) |
N155I |
probably damaging |
Het |
| Or5aq1 |
T |
C |
2: 86,966,005 (GRCm39) |
H220R |
probably benign |
Het |
| Or8c20 |
T |
A |
9: 38,261,288 (GRCm39) |
V297D |
probably damaging |
Het |
| Pcdhgb6 |
C |
T |
18: 37,875,759 (GRCm39) |
P156S |
probably benign |
Het |
| Pou2f1 |
A |
G |
1: 165,722,575 (GRCm39) |
F337L |
probably damaging |
Het |
| Prl7a2 |
A |
G |
13: 27,849,979 (GRCm39) |
V31A |
probably benign |
Het |
| Rasal2 |
A |
G |
1: 157,003,402 (GRCm39) |
F419S |
possibly damaging |
Het |
| Rmnd5a |
C |
T |
6: 71,373,865 (GRCm39) |
G310R |
probably damaging |
Het |
| Rrm2b |
T |
A |
15: 37,945,397 (GRCm39) |
|
probably null |
Het |
| Snx30 |
A |
T |
4: 59,885,022 (GRCm39) |
R221* |
probably null |
Het |
| Tyk2 |
T |
C |
9: 21,035,711 (GRCm39) |
E157G |
probably damaging |
Het |
| Wdr90 |
T |
A |
17: 26,079,976 (GRCm39) |
T120S |
possibly damaging |
Het |
| Zfp747l1 |
A |
G |
7: 126,983,917 (GRCm39) |
L395P |
probably damaging |
Het |
| Zfp804b |
A |
T |
5: 6,821,481 (GRCm39) |
D491E |
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 |
|
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'- AGCCACTTCATACAACTTTGCTG -3'
(R):5'- CTTTACGGTACCTGCCAACC -3'
Sequencing Primer
(F):5'- TGCTGCAGAGATCCACTTCTGG -3'
(R):5'- TTTGTGTACATAGTCCCCGGAAGC -3'
|
| Posted On |
2015-07-21 |
Incidental Mutation