Incidental Mutation 'IGL03204:Smg9'
ID |
413087 |
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 # |
IGL03204
|
Quality Score |
|
Status
|
|
Chromosome |
7 |
Chromosomal Location |
24099106-24122197 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 24120337 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Glycine
at position 437
(E437G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000002280
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000002280]
|
AlphaFold |
Q9DB90 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000002280
AA Change: E437G
PolyPhen 2
Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)
|
SMART Domains |
Protein: ENSMUSP00000002280 Gene: ENSMUSG00000002210 AA Change: E437G
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 |
unknown
Transcript: ENSMUST00000123188
AA Change: E112G
|
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: 30 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abhd14a |
A |
T |
9: 106,317,834 (GRCm39) |
F191I |
probably damaging |
Het |
Actc1 |
A |
T |
2: 113,880,011 (GRCm39) |
S201T |
possibly damaging |
Het |
Ankrd36 |
T |
A |
11: 5,534,023 (GRCm39) |
D291E |
possibly damaging |
Het |
Bltp1 |
A |
G |
3: 37,105,083 (GRCm39) |
|
probably benign |
Het |
Btbd7 |
T |
A |
12: 102,774,239 (GRCm39) |
R510* |
probably null |
Het |
Cfap20dc |
A |
G |
14: 8,644,436 (GRCm38) |
I80T |
possibly damaging |
Het |
Eif4a3 |
A |
T |
11: 119,184,442 (GRCm39) |
D249E |
possibly damaging |
Het |
Elovl6 |
A |
G |
3: 129,426,993 (GRCm39) |
M220V |
probably benign |
Het |
Ets1 |
C |
T |
9: 32,644,308 (GRCm39) |
S156L |
possibly damaging |
Het |
Gja8 |
C |
T |
3: 96,827,408 (GRCm39) |
V85I |
probably damaging |
Het |
Glipr2 |
T |
A |
4: 43,970,507 (GRCm39) |
D7E |
probably benign |
Het |
Il22 |
C |
T |
10: 118,041,085 (GRCm39) |
|
probably benign |
Het |
Itln1 |
A |
G |
1: 171,358,172 (GRCm39) |
V80A |
probably damaging |
Het |
Kdr |
A |
T |
5: 76,133,042 (GRCm39) |
C79S |
possibly damaging |
Het |
Kif26a |
A |
T |
12: 112,141,213 (GRCm39) |
H672L |
probably damaging |
Het |
Klhl40 |
A |
T |
9: 121,611,696 (GRCm39) |
T570S |
probably benign |
Het |
Macf1 |
A |
G |
4: 123,249,070 (GRCm39) |
|
probably benign |
Het |
Magi3 |
T |
A |
3: 104,013,151 (GRCm39) |
N112I |
probably damaging |
Het |
Moxd2 |
T |
C |
6: 40,864,239 (GRCm39) |
T64A |
probably benign |
Het |
Myh4 |
T |
C |
11: 67,141,122 (GRCm39) |
V728A |
possibly damaging |
Het |
Or8u10 |
G |
T |
2: 85,916,015 (GRCm39) |
Y35* |
probably null |
Het |
Prkdc |
A |
G |
16: 15,587,665 (GRCm39) |
I2517V |
probably benign |
Het |
Ralgapb |
A |
G |
2: 158,307,832 (GRCm39) |
I1047V |
possibly damaging |
Het |
Snx4 |
A |
G |
16: 33,090,039 (GRCm39) |
K188R |
probably benign |
Het |
Sox14 |
A |
G |
9: 99,757,110 (GRCm39) |
S210P |
probably benign |
Het |
Spata1 |
A |
G |
3: 146,194,434 (GRCm39) |
F77L |
probably benign |
Het |
Spata18 |
G |
T |
5: 73,828,449 (GRCm39) |
|
probably benign |
Het |
Stard9 |
G |
A |
2: 120,536,283 (GRCm39) |
D4151N |
probably damaging |
Het |
Wdr59 |
T |
C |
8: 112,212,002 (GRCm39) |
H356R |
probably benign |
Het |
Zfp462 |
A |
G |
4: 55,080,785 (GRCm39) |
D1380G |
possibly damaging |
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 |
IGL03175:Smg9
|
APN |
7 |
24,121,730 (GRCm39) |
missense |
probably damaging |
1.00 |
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 |