Incidental Mutation 'IGL01371:Smg5'
ID |
76163 |
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 # |
IGL01371
|
Quality Score |
|
Status
|
|
Chromosome |
3 |
Chromosomal Location |
88243567-88269645 bp(+) (GRCm39) |
Type of Mutation |
unclassified |
DNA Base Change (assembly) |
A to G
at 88266951 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000114166
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000001451]
[ENSMUST00000147948]
[ENSMUST00000147991]
|
AlphaFold |
Q6ZPY2 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000001451
|
SMART Domains |
Protein: ENSMUSP00000001451 Gene: ENSMUSG00000001415
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 |
noncoding transcript
Transcript: ENSMUST00000123200
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000147948
|
SMART Domains |
Protein: ENSMUSP00000119656 Gene: ENSMUSG00000041423
Domain | Start | End | E-Value | Type |
Pfam:HlyIII
|
59 |
161 |
6.8e-18 |
PFAM |
transmembrane domain
|
180 |
202 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000147991
|
SMART Domains |
Protein: ENSMUSP00000114166 Gene: ENSMUSG00000041423
Domain | Start | End | E-Value | Type |
Pfam:HlyIII
|
43 |
271 |
5.5e-51 |
PFAM |
transmembrane domain
|
292 |
314 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149640
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000192377
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000193224
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000194359
|
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: 31 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcc9 |
C |
T |
6: 142,602,340 (GRCm39) |
R691Q |
probably benign |
Het |
Ambra1 |
G |
T |
2: 91,655,631 (GRCm39) |
G700W |
probably damaging |
Het |
Atp6v1c1 |
A |
G |
15: 38,683,204 (GRCm39) |
I198V |
probably benign |
Het |
Bptf |
T |
C |
11: 106,946,733 (GRCm39) |
N2353S |
probably benign |
Het |
Cd84 |
A |
T |
1: 171,713,937 (GRCm39) |
T312S |
probably benign |
Het |
Chl1 |
G |
T |
6: 103,692,325 (GRCm39) |
C1064F |
probably damaging |
Het |
Clca4a |
T |
C |
3: 144,666,433 (GRCm39) |
D473G |
probably damaging |
Het |
Dsp |
A |
G |
13: 38,377,593 (GRCm39) |
R1793G |
probably benign |
Het |
Dync1h1 |
A |
G |
12: 110,605,285 (GRCm39) |
N2374S |
probably benign |
Het |
Ecpas |
A |
G |
4: 58,809,718 (GRCm39) |
L1583P |
probably damaging |
Het |
Gm43191 |
A |
T |
3: 116,439,112 (GRCm39) |
I130N |
probably damaging |
Het |
Gm5134 |
T |
G |
10: 75,840,581 (GRCm39) |
L475R |
probably damaging |
Het |
Grm1 |
A |
G |
10: 10,595,783 (GRCm39) |
V615A |
probably benign |
Het |
Inhca |
T |
C |
9: 103,131,975 (GRCm39) |
E504G |
possibly damaging |
Het |
Loxl1 |
T |
A |
9: 58,201,705 (GRCm39) |
Q462L |
possibly damaging |
Het |
Nwd1 |
T |
C |
8: 73,401,743 (GRCm39) |
W755R |
probably damaging |
Het |
Or10j27 |
A |
G |
1: 172,958,098 (GRCm39) |
S229P |
possibly damaging |
Het |
Or5b106 |
G |
A |
19: 13,123,192 (GRCm39) |
T277I |
possibly damaging |
Het |
Or5t17 |
A |
T |
2: 86,833,267 (GRCm39) |
K318M |
probably benign |
Het |
Otud4 |
T |
C |
8: 80,400,390 (GRCm39) |
F1034L |
probably damaging |
Het |
Pakap |
C |
A |
4: 57,856,325 (GRCm39) |
D551E |
probably benign |
Het |
Panx3 |
T |
G |
9: 37,572,771 (GRCm39) |
T260P |
probably benign |
Het |
Ppfia4 |
A |
T |
1: 134,255,824 (GRCm39) |
S194T |
probably benign |
Het |
Rnf135 |
T |
A |
11: 80,080,081 (GRCm39) |
I124N |
probably benign |
Het |
Rpf1 |
T |
C |
3: 146,213,302 (GRCm39) |
N283S |
probably damaging |
Het |
Stard9 |
A |
G |
2: 120,531,849 (GRCm39) |
E2702G |
probably benign |
Het |
Tbk1 |
A |
T |
10: 121,395,776 (GRCm39) |
M439K |
probably benign |
Het |
Tmem235 |
T |
C |
11: 117,753,132 (GRCm39) |
L85P |
possibly damaging |
Het |
Trhde |
A |
T |
10: 114,424,405 (GRCm39) |
V460E |
possibly damaging |
Het |
Ttn |
T |
C |
2: 76,620,608 (GRCm39) |
|
probably benign |
Het |
Vmn1r83 |
A |
G |
7: 12,055,160 (GRCm39) |
F299S |
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 |
|
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 |
2013-10-07 |