Incidental Mutation 'IGL00433:Smg5'
ID |
6845 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
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) |
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
IGL00433
|
Quality Score |
|
Status
|
|
Chromosome |
3 |
Chromosomal Location |
88243567-88269645 bp(+) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
C to T
at 88258735 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamine to Stop codon
at position 569
(Q569*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000001451
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000001451]
|
AlphaFold |
Q6ZPY2 |
Predicted Effect |
probably null
Transcript: ENSMUST00000001451
AA Change: Q569*
|
SMART Domains |
Protein: ENSMUSP00000001451 Gene: ENSMUSG00000001415 AA Change: Q569*
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 |
|
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: 36 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adamts20 |
G |
A |
15: 94,292,522 (GRCm39) |
A196V |
probably benign |
Het |
BC024139 |
A |
G |
15: 76,009,300 (GRCm39) |
V238A |
probably benign |
Het |
Bfar |
G |
A |
16: 13,516,827 (GRCm39) |
D350N |
probably benign |
Het |
C4b |
A |
T |
17: 34,961,015 (GRCm39) |
F217Y |
possibly damaging |
Het |
Camk1g |
T |
C |
1: 193,029,657 (GRCm39) |
|
probably benign |
Het |
Camkmt |
A |
G |
17: 85,404,094 (GRCm39) |
|
probably benign |
Het |
Cass4 |
T |
C |
2: 172,258,170 (GRCm39) |
L56P |
probably damaging |
Het |
Ccs |
A |
G |
19: 4,875,636 (GRCm39) |
I243T |
possibly damaging |
Het |
Cds2 |
T |
C |
2: 132,139,213 (GRCm39) |
V152A |
probably damaging |
Het |
Chd1l |
T |
C |
3: 97,497,921 (GRCm39) |
N307D |
probably damaging |
Het |
Cmtm2b |
T |
C |
8: 105,057,078 (GRCm39) |
I146T |
possibly damaging |
Het |
Cntnap3 |
T |
C |
13: 64,920,545 (GRCm39) |
Y608C |
probably damaging |
Het |
Cog5 |
A |
G |
12: 31,735,703 (GRCm39) |
R157G |
probably damaging |
Het |
Csmd1 |
A |
C |
8: 16,281,387 (GRCm39) |
F713V |
probably damaging |
Het |
Csrp3 |
T |
C |
7: 48,480,440 (GRCm39) |
N175D |
probably benign |
Het |
Exoc4 |
A |
G |
6: 33,273,723 (GRCm39) |
D176G |
probably damaging |
Het |
Fbxo10 |
T |
C |
4: 45,058,684 (GRCm39) |
D351G |
probably damaging |
Het |
Gm12185 |
A |
T |
11: 48,798,049 (GRCm39) |
S815T |
probably benign |
Het |
Gpld1 |
A |
G |
13: 25,170,905 (GRCm39) |
|
probably benign |
Het |
Hspa2 |
T |
C |
12: 76,453,123 (GRCm39) |
C606R |
possibly damaging |
Het |
Leo1 |
C |
T |
9: 75,357,762 (GRCm39) |
|
probably benign |
Het |
Mta3 |
C |
T |
17: 84,015,861 (GRCm39) |
P21L |
probably damaging |
Het |
Pkn1 |
T |
C |
8: 84,407,635 (GRCm39) |
E471G |
probably damaging |
Het |
Postn |
C |
T |
3: 54,281,149 (GRCm39) |
R425C |
probably damaging |
Het |
Reln |
A |
G |
5: 22,250,007 (GRCm39) |
L676P |
probably damaging |
Het |
Sin3a |
G |
A |
9: 57,005,185 (GRCm39) |
V362M |
probably damaging |
Het |
Slc6a7 |
C |
T |
18: 61,134,363 (GRCm39) |
|
probably null |
Het |
Smc6 |
A |
T |
12: 11,349,264 (GRCm39) |
D749V |
possibly damaging |
Het |
Sspo |
G |
A |
6: 48,466,970 (GRCm39) |
C4130Y |
probably damaging |
Het |
Tlcd3a |
T |
C |
11: 76,098,817 (GRCm39) |
F164L |
probably damaging |
Het |
Tnn |
A |
T |
1: 159,925,776 (GRCm39) |
|
probably benign |
Het |
Tomt |
C |
T |
7: 101,551,393 (GRCm39) |
R29H |
probably benign |
Het |
Uggt2 |
A |
T |
14: 119,250,899 (GRCm39) |
D1199E |
probably benign |
Het |
Usp33 |
A |
G |
3: 152,079,046 (GRCm39) |
K433E |
probably benign |
Het |
Vmn2r89 |
A |
G |
14: 51,692,422 (GRCm39) |
Y75C |
probably damaging |
Het |
Wnt7a |
C |
T |
6: 91,342,973 (GRCm39) |
G303D |
probably damaging |
Het |
|
Other mutations in Smg5 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
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 |
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 |
|
Posted On |
2012-04-20 |