Incidental Mutation 'IGL01100:Smg9'
ID |
51533 |
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 # |
IGL01100
|
Quality Score |
|
Status
|
|
Chromosome |
7 |
Chromosomal Location |
24099106-24122197 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 24116376 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Methionine
at position 314
(V314M)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000002280
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000002280]
|
AlphaFold |
Q9DB90 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000002280
AA Change: V314M
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000002280 Gene: ENSMUSG00000002210 AA Change: V314M
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: 31 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca13 |
T |
G |
11: 9,224,673 (GRCm39) |
|
probably null |
Het |
Abca8a |
C |
T |
11: 109,949,249 (GRCm39) |
|
probably null |
Het |
Acad11 |
A |
G |
9: 103,953,607 (GRCm39) |
T32A |
probably damaging |
Het |
Ak7 |
T |
A |
12: 105,679,833 (GRCm39) |
N122K |
probably benign |
Het |
Arrb1 |
A |
T |
7: 99,236,420 (GRCm39) |
|
probably null |
Het |
Csde1 |
C |
A |
3: 102,947,841 (GRCm39) |
R132S |
possibly damaging |
Het |
Emilin1 |
A |
G |
5: 31,075,748 (GRCm39) |
H663R |
probably benign |
Het |
Etaa1 |
A |
G |
11: 17,902,576 (GRCm39) |
|
probably null |
Het |
Fat3 |
A |
T |
9: 16,286,524 (GRCm39) |
F1000I |
probably damaging |
Het |
Foxj2 |
T |
C |
6: 122,805,350 (GRCm39) |
L74P |
probably damaging |
Het |
Gas6 |
C |
T |
8: 13,525,118 (GRCm39) |
V289M |
probably benign |
Het |
Gm10801 |
A |
T |
2: 98,494,328 (GRCm39) |
Y135F |
probably benign |
Het |
Ihh |
C |
T |
1: 74,985,601 (GRCm39) |
A295T |
probably damaging |
Het |
Ip6k2 |
G |
T |
9: 108,682,943 (GRCm39) |
S305I |
probably damaging |
Het |
Kcnk2 |
A |
G |
1: 189,072,133 (GRCm39) |
V65A |
probably damaging |
Het |
Kif26b |
G |
A |
1: 178,744,809 (GRCm39) |
C1635Y |
probably benign |
Het |
Klhdc4 |
G |
A |
8: 122,548,582 (GRCm39) |
Q44* |
probably null |
Het |
Madd |
C |
A |
2: 90,988,385 (GRCm39) |
R1216L |
probably damaging |
Het |
Myo15a |
T |
A |
11: 60,401,984 (GRCm39) |
C3076S |
probably damaging |
Het |
Or1l4 |
A |
T |
2: 37,091,652 (GRCm39) |
H133L |
possibly damaging |
Het |
Or52e18 |
T |
A |
7: 104,609,202 (GRCm39) |
I246F |
probably benign |
Het |
Polq |
C |
A |
16: 36,881,474 (GRCm39) |
P934T |
probably benign |
Het |
Prkaa1 |
A |
T |
15: 5,203,799 (GRCm39) |
K227M |
probably damaging |
Het |
Psap |
G |
A |
10: 60,135,708 (GRCm39) |
G388S |
probably benign |
Het |
Repin1 |
A |
G |
6: 48,573,839 (GRCm39) |
E200G |
probably damaging |
Het |
Samd9l |
C |
A |
6: 3,375,863 (GRCm39) |
S466I |
possibly damaging |
Het |
Slc5a3 |
A |
G |
16: 91,876,110 (GRCm39) |
|
probably benign |
Het |
Tktl1 |
G |
A |
X: 73,244,232 (GRCm39) |
R352H |
probably benign |
Het |
Ube2z |
A |
G |
11: 95,953,849 (GRCm39) |
V123A |
probably damaging |
Het |
Vmn1r176 |
A |
T |
7: 23,535,049 (GRCm39) |
F35I |
probably benign |
Het |
Zdhhc18 |
A |
T |
4: 133,340,269 (GRCm39) |
Y293N |
probably damaging |
Het |
|
Other mutations in Smg9 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
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 |
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 |
2013-06-21 |