Incidental Mutation 'IGL03175:Smg9'
| ID |
411981 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Smg9
|
| Ensembl Gene |
ENSMUSG00000002210 |
| Gene Name |
SMG9 nonsense mediated mRNA decay factor |
| Synonyms |
smg-9 homolog, nonsense mediated mRNA decay factor (C. elegans), 1500002O20Rik, N28092 |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL03175
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
24099106-24122197 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 24121730 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Arginine
at position 497
(H497R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000002280
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000002280]
|
| AlphaFold |
Q9DB90 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000002280
AA Change: H497R
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000002280
Gene: ENSMUSG00000002210
AA Change: H497R
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
79 |
93 |
N/A |
INTRINSIC |
|
low complexity region
|
112 |
135 |
N/A |
INTRINSIC |
|
Pfam:DUF2146
|
199 |
373 |
3.7e-8 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000123188
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146686
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148288
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a regulatory subunit of the SMG1 complex, which plays a critical role in nonsense-mediated mRNA decay (NMD). Binding of the encoded protein to the SMG1 complex kinase scaffold protein results in the inhibition of its kinase activity. Mutations in this gene cause a multiple congenital anomaly syndrome in human patients, characterized by brain malformation, congenital heart disease and other features. [provided by RefSeq, Jul 2016]
PHENOTYPE: Mice homozygous for a severe hypomorphic allele exhibit edema, hemorrhage, exencephaly, preaxial polydactyly, reduced size and growth, decreased mid- and hindrain size, microphthalmia, thin myocardium and atrioventricular septal defect. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 22 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acot5 |
T |
C |
12: 84,122,103 (GRCm39) |
L229P |
probably damaging |
Het |
| Adamts20 |
C |
T |
15: 94,171,136 (GRCm39) |
W1862* |
probably null |
Het |
| Adgrg6 |
A |
G |
10: 14,315,502 (GRCm39) |
S601P |
probably benign |
Het |
| Bpifb3 |
T |
C |
2: 153,761,568 (GRCm39) |
Y6H |
unknown |
Het |
| Calr3 |
A |
G |
8: 73,197,449 (GRCm39) |
F27L |
probably damaging |
Het |
| Ckap2l |
T |
C |
2: 129,127,437 (GRCm39) |
Q247R |
probably benign |
Het |
| Cldn20 |
T |
C |
17: 3,583,409 (GRCm39) |
I194T |
probably benign |
Het |
| Col22a1 |
G |
A |
15: 71,840,952 (GRCm39) |
P468S |
possibly damaging |
Het |
| Cyp2c54 |
T |
A |
19: 40,058,672 (GRCm39) |
E253D |
probably benign |
Het |
| Efemp1 |
A |
T |
11: 28,876,259 (GRCm39) |
T475S |
probably benign |
Het |
| Fam98b |
A |
G |
2: 117,089,719 (GRCm39) |
S79G |
probably benign |
Het |
| Galnt14 |
C |
A |
17: 73,829,649 (GRCm39) |
D299Y |
probably damaging |
Het |
| Hecw2 |
T |
C |
1: 53,965,416 (GRCm39) |
E470G |
possibly damaging |
Het |
| Hmmr |
T |
C |
11: 40,605,636 (GRCm39) |
M318V |
probably benign |
Het |
| Il17rd |
T |
A |
14: 26,821,963 (GRCm39) |
I419K |
probably damaging |
Het |
| Lyl1 |
C |
T |
8: 85,429,300 (GRCm39) |
P3L |
possibly damaging |
Het |
| Nlrp4f |
A |
G |
13: 65,342,410 (GRCm39) |
F412L |
probably damaging |
Het |
| Or5p4 |
C |
A |
7: 107,680,925 (GRCm39) |
T308K |
probably benign |
Het |
| Sel1l3 |
A |
G |
5: 53,279,199 (GRCm39) |
Y955H |
probably damaging |
Het |
| Slc4a10 |
A |
G |
2: 62,127,304 (GRCm39) |
I916V |
probably damaging |
Het |
| Tpp2 |
T |
C |
1: 44,012,671 (GRCm39) |
I635T |
probably benign |
Het |
| Usp34 |
T |
C |
11: 23,438,686 (GRCm39) |
V3416A |
probably benign |
Het |
|
| Other mutations in Smg9 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01100:Smg9
|
APN |
7 |
24,116,376 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01432:Smg9
|
APN |
7 |
24,120,691 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL01869:Smg9
|
APN |
7 |
24,115,949 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02376:Smg9
|
APN |
7 |
24,114,455 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL03204:Smg9
|
APN |
7 |
24,120,337 (GRCm39) |
missense |
probably benign |
0.02 |
|
R0318:Smg9
|
UTSW |
7 |
24,120,313 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R0578:Smg9
|
UTSW |
7 |
24,114,468 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0786:Smg9
|
UTSW |
7 |
24,120,289 (GRCm39) |
missense |
probably benign |
0.03 |
|
R2043:Smg9
|
UTSW |
7 |
24,105,001 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R2355:Smg9
|
UTSW |
7 |
24,119,546 (GRCm39) |
critical splice donor site |
probably null |
|
|
R3033:Smg9
|
UTSW |
7 |
24,115,949 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4091:Smg9
|
UTSW |
7 |
24,120,292 (GRCm39) |
missense |
probably null |
0.01 |
|
R4773:Smg9
|
UTSW |
7 |
24,107,019 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R5023:Smg9
|
UTSW |
7 |
24,105,297 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R5517:Smg9
|
UTSW |
7 |
24,114,338 (GRCm39) |
unclassified |
probably benign |
|
|
R6320:Smg9
|
UTSW |
7 |
24,120,286 (GRCm39) |
missense |
probably benign |
|
|
R6394:Smg9
|
UTSW |
7 |
24,121,732 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7156:Smg9
|
UTSW |
7 |
24,120,286 (GRCm39) |
missense |
probably benign |
|
|
R7269:Smg9
|
UTSW |
7 |
24,105,495 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R7311:Smg9
|
UTSW |
7 |
24,120,058 (GRCm39) |
missense |
probably benign |
0.14 |
|
R8972:Smg9
|
UTSW |
7 |
24,120,055 (GRCm39) |
missense |
probably benign |
0.04 |
|
R9323:Smg9
|
UTSW |
7 |
24,114,465 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9589:Smg9
|
UTSW |
7 |
24,120,246 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9707:Smg9
|
UTSW |
7 |
24,102,869 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2016-08-02 |
Incidental Mutation