Incidental Mutation 'IGL03366:Smg5'
| ID |
420095 |
| 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 # |
IGL03366
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
3 |
| Chromosomal Location |
88243567-88269645 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
T to A
at 88253759 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Stop codon
at position 126
(Y126*)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000001451]
|
| AlphaFold |
Q6ZPY2 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000001451
AA Change: Y184*
|
| SMART Domains |
Protein: ENSMUSP00000001451
Gene: ENSMUSG00000001415
AA Change: Y184*
| 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 null
Transcript: ENSMUST00000192009
AA Change: Y126*
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000192057
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000193007
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000194942
|
| 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: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ap2a2 |
T |
A |
7: 141,209,186 (GRCm39) |
S793T |
probably benign |
Het |
| Btnl6 |
T |
C |
17: 34,727,153 (GRCm39) |
D459G |
probably damaging |
Het |
| Cacna1g |
C |
A |
11: 94,347,977 (GRCm39) |
D704Y |
probably damaging |
Het |
| Cby2 |
A |
G |
14: 75,820,829 (GRCm39) |
S299P |
probably benign |
Het |
| Cry2 |
A |
G |
2: 92,244,060 (GRCm39) |
I371T |
probably damaging |
Het |
| Dock3 |
A |
T |
9: 106,882,632 (GRCm39) |
F384I |
probably benign |
Het |
| Dpp4 |
T |
C |
2: 62,187,301 (GRCm39) |
|
probably null |
Het |
| Hecw1 |
G |
T |
13: 14,552,382 (GRCm39) |
D72E |
probably damaging |
Het |
| Htt |
T |
A |
5: 35,064,924 (GRCm39) |
W3046R |
probably damaging |
Het |
| Hydin |
A |
T |
8: 110,993,995 (GRCm39) |
N10Y |
unknown |
Het |
| Ighv8-8 |
T |
A |
12: 115,257,760 (GRCm39) |
T94S |
probably benign |
Het |
| Igkv4-58 |
A |
G |
6: 69,477,538 (GRCm39) |
S20P |
probably damaging |
Het |
| Il4i1 |
T |
C |
7: 44,486,919 (GRCm39) |
|
probably benign |
Het |
| Kif13a |
A |
T |
13: 46,918,099 (GRCm39) |
S403T |
probably benign |
Het |
| Klhl40 |
T |
C |
9: 121,612,446 (GRCm39) |
L616P |
probably damaging |
Het |
| Krt7 |
T |
C |
15: 101,325,491 (GRCm39) |
L440P |
possibly damaging |
Het |
| Lpin1 |
A |
G |
12: 16,594,678 (GRCm39) |
L755P |
probably damaging |
Het |
| Magee2 |
C |
A |
X: 103,899,134 (GRCm39) |
E506* |
probably null |
Het |
| Mast3 |
G |
A |
8: 71,234,207 (GRCm39) |
R143* |
probably null |
Het |
| Med12 |
T |
A |
X: 100,321,695 (GRCm39) |
H459Q |
probably benign |
Het |
| Mmp3 |
T |
C |
9: 7,450,149 (GRCm39) |
S294P |
probably benign |
Het |
| Muc6 |
T |
C |
7: 141,234,349 (GRCm39) |
Y714C |
probably damaging |
Het |
| Myh2 |
T |
C |
11: 67,074,349 (GRCm39) |
L662S |
probably damaging |
Het |
| Notch4 |
G |
T |
17: 34,791,542 (GRCm39) |
C567F |
probably damaging |
Het |
| Nprl3 |
A |
G |
11: 32,200,256 (GRCm39) |
I20T |
probably damaging |
Het |
| Or10ag2 |
A |
T |
2: 87,248,587 (GRCm39) |
D65V |
possibly damaging |
Het |
| Pcdhb19 |
A |
G |
18: 37,631,665 (GRCm39) |
T487A |
possibly damaging |
Het |
| Phlpp2 |
A |
G |
8: 110,667,467 (GRCm39) |
E1332G |
probably benign |
Het |
| Pick1 |
T |
C |
15: 79,125,481 (GRCm39) |
S113P |
probably damaging |
Het |
| Ptpru |
T |
C |
4: 131,507,178 (GRCm39) |
E1023G |
probably damaging |
Het |
| Rspry1 |
A |
C |
8: 95,376,962 (GRCm39) |
I382L |
probably benign |
Het |
| Sf3b3 |
A |
C |
8: 111,566,586 (GRCm39) |
V248G |
probably damaging |
Het |
| Spin1 |
T |
C |
13: 51,281,973 (GRCm39) |
V22A |
probably benign |
Het |
| Stab1 |
C |
T |
14: 30,872,220 (GRCm39) |
R1189Q |
possibly damaging |
Het |
| Sytl5 |
A |
G |
X: 9,829,939 (GRCm39) |
D538G |
probably damaging |
Het |
| Taar7e |
T |
A |
10: 23,913,813 (GRCm39) |
M101K |
probably damaging |
Het |
| Taf4 |
A |
G |
2: 179,576,847 (GRCm39) |
V578A |
probably damaging |
Het |
| Tmem266 |
G |
T |
9: 55,344,517 (GRCm39) |
C383F |
probably benign |
Het |
| Trim34a |
T |
C |
7: 103,910,140 (GRCm39) |
|
probably null |
Het |
| Vmn2r104 |
T |
C |
17: 20,249,866 (GRCm39) |
T802A |
probably damaging |
Het |
| Vmn2r32 |
A |
C |
7: 7,467,029 (GRCm39) |
I833S |
probably damaging |
Het |
| Vmn2r85 |
T |
C |
10: 130,262,328 (GRCm39) |
D137G |
probably benign |
Het |
| Vps13c |
C |
T |
9: 67,853,308 (GRCm39) |
S2467L |
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 |
|
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 |
2016-08-02 |
Incidental Mutation