Incidental Mutation 'R6080:Smg5'
ID |
482878 |
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 |
044239-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R6080 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
3 |
Chromosomal Location |
88243567-88269645 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 88258816 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 596
(T596A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000001451
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000001451]
|
AlphaFold |
Q6ZPY2 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000001451
AA Change: T596A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000001451 Gene: ENSMUSG00000001415 AA Change: T596A
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 |
probably benign
Transcript: ENSMUST00000192009
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000192057
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000193007
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000193097
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.2%
- 20x: 95.0%
|
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: 31 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcc4 |
C |
T |
14: 118,906,462 (GRCm39) |
M44I |
possibly damaging |
Het |
Anks1b |
C |
A |
10: 90,802,211 (GRCm39) |
S1209* |
probably null |
Het |
Atp9b |
A |
G |
18: 80,782,023 (GRCm39) |
V1039A |
probably benign |
Het |
Bltp3a |
T |
C |
17: 28,099,271 (GRCm39) |
S278P |
probably benign |
Het |
Cep44 |
T |
C |
8: 56,992,876 (GRCm39) |
K246R |
possibly damaging |
Het |
Cfap54 |
A |
T |
10: 92,881,197 (GRCm39) |
D330E |
possibly damaging |
Het |
Dnah10 |
A |
T |
5: 124,882,961 (GRCm39) |
M2940L |
possibly damaging |
Het |
Gm14326 |
T |
A |
2: 177,578,339 (GRCm39) |
T68S |
probably benign |
Het |
Gm4922 |
A |
C |
10: 18,660,500 (GRCm39) |
I74S |
probably damaging |
Het |
Ints14 |
G |
A |
9: 64,874,044 (GRCm39) |
V99I |
probably benign |
Het |
Lrp4 |
T |
C |
2: 91,332,345 (GRCm39) |
S1681P |
probably benign |
Het |
Lrp5 |
T |
C |
19: 3,678,316 (GRCm39) |
E513G |
probably benign |
Het |
Myh14 |
T |
A |
7: 44,305,035 (GRCm39) |
N252I |
probably damaging |
Het |
Naga |
A |
G |
15: 82,219,048 (GRCm39) |
V233A |
probably benign |
Het |
Npc1 |
C |
T |
18: 12,352,408 (GRCm39) |
C97Y |
probably damaging |
Het |
Or4f15 |
T |
G |
2: 111,814,050 (GRCm39) |
Y123S |
probably damaging |
Het |
Or52n4 |
T |
C |
7: 104,294,517 (GRCm39) |
I19V |
probably benign |
Het |
Or56a3b |
T |
C |
7: 104,771,116 (GRCm39) |
F151L |
probably benign |
Het |
Or9i2 |
C |
A |
19: 13,816,464 (GRCm39) |
L24F |
possibly damaging |
Het |
Otx1 |
A |
T |
11: 21,949,406 (GRCm39) |
L24H |
probably damaging |
Het |
Plag1 |
T |
C |
4: 3,903,815 (GRCm39) |
T459A |
probably benign |
Het |
Rnase9 |
T |
C |
14: 51,276,727 (GRCm39) |
T84A |
probably benign |
Het |
Rps6kb2 |
T |
A |
19: 4,208,671 (GRCm39) |
I282F |
probably benign |
Het |
Ugcg |
T |
C |
4: 59,218,524 (GRCm39) |
V256A |
possibly damaging |
Het |
Vgll4 |
T |
C |
6: 114,898,299 (GRCm39) |
I21V |
probably benign |
Het |
Vipas39 |
T |
A |
12: 87,288,727 (GRCm39) |
H426L |
probably damaging |
Het |
Vmn1r224 |
A |
G |
17: 20,639,818 (GRCm39) |
T132A |
possibly damaging |
Het |
Zc3h18 |
A |
G |
8: 123,143,283 (GRCm39) |
|
probably benign |
Het |
Zfp606 |
T |
A |
7: 12,228,043 (GRCm39) |
N663K |
probably damaging |
Het |
Zfp819 |
A |
G |
7: 43,266,120 (GRCm39) |
H201R |
probably benign |
Het |
Zfp946 |
T |
A |
17: 22,674,090 (GRCm39) |
H281Q |
probably benign |
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 |
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 |
R8327:Smg5
|
UTSW |
3 |
88,252,714 (GRCm39) |
missense |
probably damaging |
1.00 |
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'- CCGGTCAGACCTGGAAGATATG -3'
(R):5'- TCTGGAGGCTGGAAATGAGTAC -3'
Sequencing Primer
(F):5'- GGACAAGATCTCCAGCCCAGG -3'
(R):5'- TACGTGCACAGGACAAGGATTCC -3'
|
Posted On |
2017-07-14 |