Incidental Mutation 'R8327:Smg5'
| ID |
644144 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Smg5
|
| Ensembl Gene |
ENSMUSG00000001415 |
| Gene Name |
SMG5 nonsense mediated mRNA decay factor |
| Synonyms |
Smg-5 homolog, nonsense mediated mRNA decay factor (C. elegans) |
| MMRRC Submission |
067858-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R8327 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
88243567-88269645 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 88252714 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Serine
at position 167
(A167S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000001451
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000001451]
|
| AlphaFold |
Q6ZPY2 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000001451
AA Change: A167S
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000001451
Gene: ENSMUSG00000001415
AA Change: A167S
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
4 |
14 |
N/A |
INTRINSIC |
|
Pfam:EST1
|
77 |
189 |
1.1e-26 |
PFAM |
|
Pfam:EST1_DNA_bind
|
197 |
427 |
4.6e-53 |
PFAM |
|
low complexity region
|
447 |
468 |
N/A |
INTRINSIC |
|
low complexity region
|
481 |
501 |
N/A |
INTRINSIC |
|
Pfam:EST1_DNA_bind
|
611 |
745 |
3.7e-9 |
PFAM |
|
coiled coil region
|
801 |
842 |
N/A |
INTRINSIC |
|
PINc
|
856 |
979 |
3.23e-15 |
SMART |
|
low complexity region
|
990 |
999 |
N/A |
INTRINSIC |
|
| Predicted Effect |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] SMG5 is involved in nonsense-mediated mRNA decay (Ohnishi et al., 2003 [PubMed 14636577]).[supplied by OMIM, Mar 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2900026A02Rik |
T |
A |
5: 113,331,685 (GRCm39) |
D843V |
possibly damaging |
Het |
| 6330409D20Rik |
T |
A |
2: 32,627,623 (GRCm39) |
Q111L |
unknown |
Het |
| Abcc5 |
C |
A |
16: 20,241,068 (GRCm39) |
R39L |
probably benign |
Het |
| Acbd3 |
C |
A |
1: 180,566,158 (GRCm39) |
Q284K |
probably damaging |
Het |
| Adgrv1 |
C |
T |
13: 81,593,462 (GRCm39) |
R4175H |
probably damaging |
Het |
| Ankrd27 |
T |
C |
7: 35,300,985 (GRCm39) |
L95P |
probably damaging |
Het |
| Apc2 |
T |
G |
10: 80,137,764 (GRCm39) |
D68E |
probably damaging |
Het |
| Apob |
A |
T |
12: 8,051,015 (GRCm39) |
I1093F |
possibly damaging |
Het |
| Arid2 |
T |
A |
15: 96,260,485 (GRCm39) |
D411E |
probably damaging |
Het |
| Astn1 |
T |
A |
1: 158,436,850 (GRCm39) |
Y811N |
probably damaging |
Het |
| Calhm5 |
A |
C |
10: 33,972,064 (GRCm39) |
F124V |
probably damaging |
Het |
| Ccdc187 |
T |
C |
2: 26,170,630 (GRCm39) |
H616R |
probably benign |
Het |
| Ccdc198 |
C |
T |
14: 49,470,356 (GRCm39) |
G197S |
possibly damaging |
Het |
| Clca4b |
T |
C |
3: 144,627,762 (GRCm39) |
Y403C |
possibly damaging |
Het |
| Dagla |
C |
T |
19: 10,228,451 (GRCm39) |
V656I |
probably benign |
Het |
| Dguok |
A |
C |
6: 83,464,061 (GRCm39) |
W166G |
probably damaging |
Het |
| Dlg5 |
G |
A |
14: 24,196,388 (GRCm39) |
A1603V |
probably damaging |
Het |
| Fanca |
G |
A |
8: 124,039,984 (GRCm39) |
Q138* |
probably null |
Het |
| Fbxl19 |
T |
A |
7: 127,347,520 (GRCm39) |
C25* |
probably null |
Het |
| Gm49383 |
C |
A |
12: 69,243,643 (GRCm39) |
E79* |
probably null |
Het |
| Lcor |
C |
T |
19: 41,570,996 (GRCm39) |
S63L |
probably damaging |
Het |
| Lrp2 |
T |
C |
2: 69,322,268 (GRCm39) |
Y1887C |
probably damaging |
Het |
| Mast3 |
T |
C |
8: 71,232,062 (GRCm39) |
D1305G |
probably damaging |
Het |
| Mreg |
C |
A |
1: 72,203,257 (GRCm39) |
R107L |
possibly damaging |
Het |
| Nbn |
T |
A |
4: 15,981,470 (GRCm39) |
S521T |
probably benign |
Het |
| Nxpe2 |
C |
A |
9: 48,231,059 (GRCm39) |
V437L |
probably benign |
Het |
| Or2t49 |
T |
C |
11: 58,392,942 (GRCm39) |
M153V |
probably benign |
Het |
| Or51s1 |
A |
T |
7: 102,558,926 (GRCm39) |
I40N |
probably damaging |
Het |
| Or8c13 |
T |
C |
9: 38,091,186 (GRCm39) |
E311G |
possibly damaging |
Het |
| Pcdhb5 |
A |
C |
18: 37,453,953 (GRCm39) |
K111T |
probably benign |
Het |
| Pi4kb |
A |
G |
3: 94,906,192 (GRCm39) |
I580V |
probably benign |
Het |
| Plaat3 |
T |
C |
19: 7,556,514 (GRCm39) |
L105P |
probably benign |
Het |
| Rbm15b |
A |
G |
9: 106,761,646 (GRCm39) |
S841P |
probably benign |
Het |
| Reep2 |
A |
G |
18: 34,975,566 (GRCm39) |
N31S |
probably damaging |
Het |
| Scmh1 |
C |
T |
4: 120,379,699 (GRCm39) |
H505Y |
probably benign |
Het |
| Setd1a |
T |
A |
7: 127,390,669 (GRCm39) |
L1115H |
unknown |
Het |
| Slc26a3 |
A |
G |
12: 31,516,430 (GRCm39) |
D596G |
possibly damaging |
Het |
| Supv3l1 |
T |
C |
10: 62,277,004 (GRCm39) |
T255A |
probably damaging |
Het |
| Synrg |
G |
A |
11: 83,899,731 (GRCm39) |
A568T |
probably benign |
Het |
| Tmem132a |
G |
T |
19: 10,836,311 (GRCm39) |
P740T |
probably benign |
Het |
| Tmem181a |
T |
C |
17: 6,351,680 (GRCm39) |
L353P |
probably damaging |
Het |
| Tubgcp3 |
T |
C |
8: 12,704,343 (GRCm39) |
E242G |
probably benign |
Het |
| Vmn2r77 |
A |
T |
7: 86,450,680 (GRCm39) |
T189S |
probably benign |
Het |
| Zfp638 |
T |
G |
6: 83,905,679 (GRCm39) |
L44W |
probably damaging |
Het |
| Zfp715 |
G |
A |
7: 42,947,482 (GRCm39) |
T826I |
possibly damaging |
Het |
| Zfp865 |
G |
A |
7: 5,034,058 (GRCm39) |
S681N |
probably benign |
Het |
| Zscan5b |
C |
T |
7: 6,236,946 (GRCm39) |
P232S |
possibly damaging |
Het |
|
| Other mutations in Smg5 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00433:Smg5
|
APN |
3 |
88,258,735 (GRCm39) |
nonsense |
probably null |
|
|
IGL00902:Smg5
|
APN |
3 |
88,260,392 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL00990:Smg5
|
APN |
3 |
88,250,345 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL01371:Smg5
|
APN |
3 |
88,266,951 (GRCm39) |
unclassified |
probably benign |
|
|
IGL01536:Smg5
|
APN |
3 |
88,256,552 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
IGL02215:Smg5
|
APN |
3 |
88,260,305 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
IGL03366:Smg5
|
APN |
3 |
88,253,759 (GRCm39) |
nonsense |
probably null |
|
|
R0013:Smg5
|
UTSW |
3 |
88,256,540 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0017:Smg5
|
UTSW |
3 |
88,258,412 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0017:Smg5
|
UTSW |
3 |
88,258,412 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0129:Smg5
|
UTSW |
3 |
88,256,540 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0153:Smg5
|
UTSW |
3 |
88,261,179 (GRCm39) |
unclassified |
probably benign |
|
|
R1386:Smg5
|
UTSW |
3 |
88,262,978 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1941:Smg5
|
UTSW |
3 |
88,252,687 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R2185:Smg5
|
UTSW |
3 |
88,258,868 (GRCm39) |
missense |
probably benign |
|
|
R2282:Smg5
|
UTSW |
3 |
88,252,705 (GRCm39) |
missense |
probably benign |
0.02 |
|
R3615:Smg5
|
UTSW |
3 |
88,243,758 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R3616:Smg5
|
UTSW |
3 |
88,243,758 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R4008:Smg5
|
UTSW |
3 |
88,256,465 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4687:Smg5
|
UTSW |
3 |
88,249,776 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R4726:Smg5
|
UTSW |
3 |
88,243,758 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R4801:Smg5
|
UTSW |
3 |
88,262,999 (GRCm39) |
nonsense |
probably null |
|
|
R4802:Smg5
|
UTSW |
3 |
88,262,999 (GRCm39) |
nonsense |
probably null |
|
|
R4977:Smg5
|
UTSW |
3 |
88,263,032 (GRCm39) |
nonsense |
probably null |
|
|
R5384:Smg5
|
UTSW |
3 |
88,258,600 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5443:Smg5
|
UTSW |
3 |
88,261,896 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5779:Smg5
|
UTSW |
3 |
88,258,925 (GRCm39) |
unclassified |
probably benign |
|
|
R5860:Smg5
|
UTSW |
3 |
88,250,214 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R6080:Smg5
|
UTSW |
3 |
88,258,816 (GRCm39) |
missense |
probably benign |
|
|
R6263:Smg5
|
UTSW |
3 |
88,249,208 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R6431:Smg5
|
UTSW |
3 |
88,258,527 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6722:Smg5
|
UTSW |
3 |
88,260,332 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6847:Smg5
|
UTSW |
3 |
88,249,859 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6950:Smg5
|
UTSW |
3 |
88,256,576 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7091:Smg5
|
UTSW |
3 |
88,258,654 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7395:Smg5
|
UTSW |
3 |
88,268,378 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7678:Smg5
|
UTSW |
3 |
88,261,202 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R7796:Smg5
|
UTSW |
3 |
88,256,739 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R8209:Smg5
|
UTSW |
3 |
88,258,838 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8987:Smg5
|
UTSW |
3 |
88,267,714 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9345:Smg5
|
UTSW |
3 |
88,261,848 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9534:Smg5
|
UTSW |
3 |
88,252,759 (GRCm39) |
missense |
probably benign |
0.13 |
|
R9602:Smg5
|
UTSW |
3 |
88,250,214 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Smg5
|
UTSW |
3 |
88,260,297 (GRCm39) |
missense |
probably benign |
0.33 |
|
Z1177:Smg5
|
UTSW |
3 |
88,258,441 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GTTTCCTAAATGCGTGTCTGC -3'
(R):5'- CTCCATAGAGAACTGACTTGCAG -3'
Sequencing Primer
(F):5'- CGTGTCTGCTCAGTTCTATAAGACAG -3'
(R):5'- TTGCAGGCAGTGAAAGACAGAAC -3'
|
| Posted On |
2020-09-02 |
Incidental Mutation