Incidental Mutation 'R2043:Smg9'
ID |
225189 |
Institutional Source |
Beutler Lab
|
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 |
MMRRC Submission |
040050-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R2043 (G1)
|
Quality Score |
189 |
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
24099106-24122197 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 24105001 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Asparagine
at position 67
(I67N)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000104073
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000002280]
[ENSMUST00000108434]
|
AlphaFold |
Q9DB90 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000002280
AA Change: I67N
PolyPhen 2
Score 0.461 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000002280 Gene: ENSMUSG00000002210 AA Change: I67N
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 |
possibly damaging
Transcript: ENSMUST00000108434
AA Change: I67N
PolyPhen 2
Score 0.924 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000104073 Gene: ENSMUSG00000002210 AA Change: I67N
Domain | Start | End | E-Value | Type |
low complexity region
|
79 |
93 |
N/A |
INTRINSIC |
low complexity region
|
112 |
135 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139481
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146381
|
Meta Mutation Damage Score |
0.4503 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.9%
|
Validation Efficiency |
96% (47/49) |
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: 48 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam9 |
A |
G |
8: 25,486,669 (GRCm39) |
|
probably null |
Het |
Adnp2 |
A |
C |
18: 80,171,541 (GRCm39) |
M956R |
probably damaging |
Het |
Aldh1l1 |
T |
A |
6: 90,534,314 (GRCm39) |
D36E |
probably benign |
Het |
Ankmy1 |
T |
C |
1: 92,804,249 (GRCm39) |
|
probably benign |
Het |
Apaf1 |
T |
C |
10: 90,872,890 (GRCm39) |
D718G |
probably damaging |
Het |
Ascc3 |
C |
T |
10: 50,576,616 (GRCm39) |
P857L |
probably damaging |
Het |
Atp8b1 |
T |
C |
18: 64,738,271 (GRCm39) |
K60R |
possibly damaging |
Het |
Bub1 |
A |
T |
2: 127,646,140 (GRCm39) |
C947S |
probably damaging |
Het |
Cacna1c |
C |
T |
6: 118,573,049 (GRCm39) |
G2017D |
probably benign |
Het |
Capn3 |
A |
G |
2: 120,322,382 (GRCm39) |
N414S |
possibly damaging |
Het |
Ccdc110 |
T |
C |
8: 46,395,864 (GRCm39) |
M585T |
probably benign |
Het |
Cep85l |
A |
T |
10: 53,234,224 (GRCm39) |
N51K |
possibly damaging |
Het |
Cftr |
T |
C |
6: 18,320,934 (GRCm39) |
F1415L |
probably benign |
Het |
Cln5 |
T |
C |
14: 103,313,380 (GRCm39) |
S211P |
probably damaging |
Het |
Dcaf5 |
A |
T |
12: 80,386,991 (GRCm39) |
D378E |
probably benign |
Het |
Dhx57 |
A |
G |
17: 80,560,509 (GRCm39) |
|
probably benign |
Het |
Dsn1 |
G |
A |
2: 156,847,273 (GRCm39) |
S55L |
possibly damaging |
Het |
Eif5b |
T |
C |
1: 38,080,900 (GRCm39) |
F747S |
probably damaging |
Het |
Entrep3 |
A |
G |
3: 89,092,874 (GRCm39) |
Y251C |
probably damaging |
Het |
Fbxo25 |
A |
G |
8: 13,971,905 (GRCm39) |
I86V |
probably damaging |
Het |
Fpr-rs4 |
CAGGAA |
CA |
17: 18,242,596 (GRCm39) |
|
probably null |
Het |
Glcci1 |
T |
A |
6: 8,582,590 (GRCm39) |
I130K |
probably damaging |
Het |
Gm5424 |
A |
G |
10: 61,906,990 (GRCm39) |
|
noncoding transcript |
Het |
Gsdma |
G |
A |
11: 98,557,046 (GRCm39) |
V54M |
possibly damaging |
Het |
H3c3 |
A |
G |
13: 23,929,278 (GRCm39) |
F68S |
probably damaging |
Het |
Heatr3 |
T |
A |
8: 88,874,322 (GRCm39) |
|
probably benign |
Het |
Hspa13 |
A |
G |
16: 75,555,156 (GRCm39) |
L310S |
probably benign |
Het |
Il6st |
A |
C |
13: 112,616,753 (GRCm39) |
Q100P |
probably benign |
Het |
Ly6g6e |
G |
A |
17: 35,296,840 (GRCm39) |
R27Q |
possibly damaging |
Het |
Mis18bp1 |
A |
T |
12: 65,196,192 (GRCm39) |
I524K |
probably damaging |
Het |
Myo18a |
T |
C |
11: 77,714,189 (GRCm39) |
I761T |
probably damaging |
Het |
Mypop |
T |
C |
7: 18,734,944 (GRCm39) |
|
probably benign |
Het |
Or51ag1 |
A |
G |
7: 103,156,150 (GRCm39) |
M1T |
probably null |
Het |
Pcdh20 |
G |
A |
14: 88,704,591 (GRCm39) |
T903I |
probably benign |
Het |
Pdk4 |
A |
T |
6: 5,485,502 (GRCm39) |
C396S |
probably benign |
Het |
Piwil2 |
A |
G |
14: 70,628,919 (GRCm39) |
V699A |
probably benign |
Het |
Plekha5 |
T |
C |
6: 140,498,530 (GRCm39) |
|
probably benign |
Het |
Ralgapa1 |
T |
A |
12: 55,723,811 (GRCm39) |
I1572L |
probably damaging |
Het |
Rasgrf2 |
T |
A |
13: 92,167,351 (GRCm39) |
M241L |
possibly damaging |
Het |
Ryr1 |
C |
T |
7: 28,759,056 (GRCm39) |
R3374H |
probably damaging |
Het |
Slc24a2 |
A |
T |
4: 86,914,882 (GRCm39) |
M519K |
probably damaging |
Het |
Spart |
G |
A |
3: 55,034,969 (GRCm39) |
A452T |
probably damaging |
Het |
Ush2a |
T |
A |
1: 188,648,453 (GRCm39) |
F4686Y |
probably benign |
Het |
Zfp146 |
T |
C |
7: 29,861,664 (GRCm39) |
K126R |
possibly damaging |
Het |
Zfp386 |
T |
A |
12: 116,022,781 (GRCm39) |
D131E |
probably benign |
Het |
Zfp423 |
T |
C |
8: 88,509,246 (GRCm39) |
D366G |
probably damaging |
Het |
Zfp729a |
T |
C |
13: 67,769,291 (GRCm39) |
K313E |
probably damaging |
Het |
Zfp955a |
G |
A |
17: 33,461,527 (GRCm39) |
H202Y |
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 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- GCGTGGTACCAGCATCTG -3'
(R):5'- GGTTTCTCCAGTGGGGCC -3'
Sequencing Primer
(F):5'- GTCCCACAGTCTATAGGGTCATAG -3'
(R):5'- ACTCGGGAGACCTCCTA -3'
|
Posted On |
2014-08-25 |