Incidental Mutation 'IGL00902:Smg5'
| ID |
27071 |
| 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 # |
IGL00902
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
3 |
| Chromosomal Location |
88243567-88269645 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 88260392 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Isoleucine
at position 661
(V661I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000001451
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000001451]
|
| AlphaFold |
Q6ZPY2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000001451
AA Change: V661I
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000001451
Gene: ENSMUSG00000001415
AA Change: V661I
| 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: 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: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts7 |
T |
G |
9: 90,070,847 (GRCm39) |
|
probably null |
Het |
| Akap11 |
A |
G |
14: 78,733,278 (GRCm39) |
S1876P |
probably benign |
Het |
| Bltp1 |
G |
A |
3: 37,095,494 (GRCm39) |
G1001D |
probably damaging |
Het |
| Capn10 |
A |
G |
1: 92,870,281 (GRCm39) |
I256V |
probably benign |
Het |
| Catsperg2 |
T |
A |
7: 29,400,568 (GRCm39) |
H262L |
possibly damaging |
Het |
| Col22a1 |
C |
A |
15: 71,836,508 (GRCm39) |
G509V |
probably damaging |
Het |
| Dab2ip |
T |
C |
2: 35,607,124 (GRCm39) |
F523S |
probably damaging |
Het |
| Dbnl |
G |
T |
11: 5,748,105 (GRCm39) |
A313S |
probably benign |
Het |
| Ddo |
T |
C |
10: 40,523,550 (GRCm39) |
V180A |
probably damaging |
Het |
| Enox1 |
A |
G |
14: 77,819,844 (GRCm39) |
M200V |
possibly damaging |
Het |
| Fabp6 |
G |
A |
11: 43,489,543 (GRCm39) |
R33C |
probably damaging |
Het |
| Gm9104 |
T |
C |
17: 45,776,940 (GRCm39) |
|
probably benign |
Het |
| Gspt1 |
C |
T |
16: 11,050,443 (GRCm39) |
V303I |
probably damaging |
Het |
| Igf2r |
C |
T |
17: 12,919,245 (GRCm39) |
C1469Y |
probably damaging |
Het |
| Igflr1 |
T |
C |
7: 30,266,700 (GRCm39) |
S183P |
possibly damaging |
Het |
| Itga6 |
T |
C |
2: 71,679,738 (GRCm39) |
V1001A |
probably benign |
Het |
| Itih1 |
G |
A |
14: 30,654,439 (GRCm39) |
|
probably benign |
Het |
| Itprid2 |
G |
A |
2: 79,490,822 (GRCm39) |
R980Q |
probably damaging |
Het |
| Krt86 |
C |
T |
15: 101,371,741 (GRCm39) |
H104Y |
probably benign |
Het |
| Lrp5 |
T |
C |
19: 3,650,774 (GRCm39) |
N1220S |
probably damaging |
Het |
| Marchf6 |
A |
G |
15: 31,485,124 (GRCm39) |
Y434H |
probably damaging |
Het |
| Mbd1 |
A |
G |
18: 74,408,310 (GRCm39) |
Y211C |
possibly damaging |
Het |
| Mpeg1 |
C |
A |
19: 12,439,133 (GRCm39) |
A197D |
probably damaging |
Het |
| Mroh2b |
T |
A |
15: 4,944,704 (GRCm39) |
L435Q |
probably damaging |
Het |
| Mss51 |
A |
C |
14: 20,536,235 (GRCm39) |
M160R |
probably damaging |
Het |
| Ndufs7 |
T |
G |
10: 80,091,839 (GRCm39) |
Y190* |
probably null |
Het |
| Or6c38 |
T |
A |
10: 128,929,265 (GRCm39) |
I193L |
probably benign |
Het |
| Or9g4b |
T |
C |
2: 85,616,461 (GRCm39) |
M202T |
probably benign |
Het |
| Pcdh17 |
A |
G |
14: 84,684,289 (GRCm39) |
E252G |
probably damaging |
Het |
| Ric1 |
T |
C |
19: 29,544,631 (GRCm39) |
V151A |
probably benign |
Het |
| Sgo2a |
A |
G |
1: 58,055,258 (GRCm39) |
T481A |
probably benign |
Het |
| Slc5a8 |
A |
G |
10: 88,755,323 (GRCm39) |
T477A |
probably benign |
Het |
| Snx19 |
A |
T |
9: 30,340,028 (GRCm39) |
I389F |
possibly damaging |
Het |
| Spem1 |
A |
T |
11: 69,712,643 (GRCm39) |
I64N |
probably damaging |
Het |
| Thada |
A |
T |
17: 84,755,404 (GRCm39) |
M262K |
probably damaging |
Het |
| Uox |
A |
G |
3: 146,316,161 (GRCm39) |
D32G |
possibly damaging |
Het |
| Usp42 |
A |
T |
5: 143,705,629 (GRCm39) |
|
probably benign |
Het |
| Usp43 |
G |
A |
11: 67,782,245 (GRCm39) |
P391L |
probably benign |
Het |
| Vmn2r56 |
T |
C |
7: 12,449,426 (GRCm39) |
S271G |
probably benign |
Het |
| Wdr64 |
T |
A |
1: 175,556,391 (GRCm39) |
C213S |
probably damaging |
Het |
| Zfp26 |
A |
T |
9: 20,350,844 (GRCm39) |
S194T |
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 |
|
|
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 |
2013-04-17 |
Incidental Mutation