Incidental Mutation 'R2355:Smg9'
| ID |
246870 |
| 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 |
040337-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R2355 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
24099106-24122197 bp(+) (GRCm39) |
| Type of Mutation |
critical splice donor site (1 bp from exon) |
| DNA Base Change (assembly) |
G to A
at 24119546 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000002280]
|
| AlphaFold |
Q9DB90 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000002280
|
| SMART Domains |
Protein: ENSMUSP00000002280
Gene: ENSMUSG00000002210
| 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 null
Transcript: ENSMUST00000123188
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000123188
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146686
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148288
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.5%
|
| 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: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb9 |
CGG |
CG |
5: 124,215,368 (GRCm39) |
|
probably null |
Het |
| Ahcyl1 |
A |
G |
3: 107,577,533 (GRCm39) |
S296P |
probably damaging |
Het |
| Alas1 |
A |
G |
9: 106,113,673 (GRCm39) |
V524A |
probably damaging |
Het |
| Amn |
C |
A |
12: 111,238,246 (GRCm39) |
D53E |
probably damaging |
Het |
| Bbof1 |
A |
G |
12: 84,470,223 (GRCm39) |
E33G |
probably damaging |
Het |
| Ccdc149 |
T |
C |
5: 52,578,114 (GRCm39) |
E106G |
probably damaging |
Het |
| Ceacam5 |
T |
A |
7: 17,479,560 (GRCm39) |
S226T |
probably damaging |
Het |
| Chd7 |
G |
T |
4: 8,801,350 (GRCm39) |
S698I |
possibly damaging |
Het |
| Chst2 |
A |
G |
9: 95,288,148 (GRCm39) |
L66P |
probably damaging |
Het |
| Cps1 |
C |
T |
1: 67,195,383 (GRCm39) |
P268L |
probably damaging |
Het |
| Csmd3 |
CCTTTGCGCTT |
CCTT |
15: 47,604,632 (GRCm39) |
|
probably null |
Het |
| Cyp3a59 |
A |
T |
5: 146,036,622 (GRCm39) |
M275L |
probably benign |
Het |
| Ddx41 |
T |
G |
13: 55,682,113 (GRCm39) |
M232L |
probably benign |
Het |
| Dnah6 |
C |
A |
6: 73,133,404 (GRCm39) |
A1068S |
possibly damaging |
Het |
| Dnah7a |
T |
C |
1: 53,621,661 (GRCm39) |
I1155V |
probably benign |
Het |
| Dop1b |
G |
A |
16: 93,567,565 (GRCm39) |
V611I |
probably damaging |
Het |
| Epyc |
A |
G |
10: 97,512,875 (GRCm39) |
Y243C |
probably damaging |
Het |
| Fam171a1 |
C |
T |
2: 3,226,570 (GRCm39) |
Q568* |
probably null |
Het |
| Gm5930 |
A |
G |
14: 44,573,918 (GRCm39) |
S105P |
probably damaging |
Het |
| Golga4 |
A |
G |
9: 118,389,810 (GRCm39) |
D2032G |
probably benign |
Het |
| Gps2 |
AGTGCT |
A |
11: 69,806,207 (GRCm39) |
|
probably null |
Het |
| H2-DMb1 |
A |
G |
17: 34,376,289 (GRCm39) |
Y136C |
probably damaging |
Het |
| Il12b |
A |
G |
11: 44,301,039 (GRCm39) |
E185G |
probably benign |
Het |
| Kat7 |
A |
C |
11: 95,182,407 (GRCm39) |
I231R |
probably benign |
Het |
| Kcmf1 |
A |
T |
6: 72,827,466 (GRCm39) |
I58N |
probably damaging |
Het |
| Lmf2 |
A |
T |
15: 89,235,966 (GRCm39) |
V646E |
possibly damaging |
Het |
| Lmo7 |
A |
G |
14: 102,126,121 (GRCm39) |
Q409R |
probably damaging |
Het |
| Lmod1 |
T |
A |
1: 135,292,253 (GRCm39) |
H369Q |
probably benign |
Het |
| M1ap |
G |
A |
6: 82,933,484 (GRCm39) |
A13T |
probably benign |
Het |
| Mapk8ip2 |
G |
T |
15: 89,343,168 (GRCm39) |
V637L |
probably benign |
Het |
| Mettl25 |
C |
A |
10: 105,599,316 (GRCm39) |
V570L |
probably benign |
Het |
| Mfsd1 |
T |
A |
3: 67,508,668 (GRCm39) |
N449K |
probably damaging |
Het |
| Or56a5 |
A |
T |
7: 104,793,020 (GRCm39) |
M166K |
probably benign |
Het |
| Or5b24 |
T |
C |
19: 12,912,383 (GRCm39) |
S94P |
possibly damaging |
Het |
| Or5d18 |
T |
A |
2: 87,865,379 (GRCm39) |
I35F |
probably damaging |
Het |
| Or6c209 |
G |
A |
10: 129,483,711 (GRCm39) |
C238Y |
probably benign |
Het |
| Pcdhb5 |
T |
A |
18: 37,455,169 (GRCm39) |
S516R |
probably benign |
Het |
| Plppr3 |
C |
T |
10: 79,701,194 (GRCm39) |
M549I |
possibly damaging |
Het |
| Ppl |
A |
G |
16: 4,912,361 (GRCm39) |
V740A |
probably benign |
Het |
| Rabgef1 |
C |
T |
5: 130,240,928 (GRCm39) |
T349M |
probably benign |
Het |
| Rad51ap2 |
T |
C |
12: 11,507,109 (GRCm39) |
C344R |
probably benign |
Het |
| Shank2 |
A |
G |
7: 143,611,455 (GRCm39) |
Q172R |
possibly damaging |
Het |
| Tectb |
C |
G |
19: 55,169,431 (GRCm39) |
|
probably benign |
Het |
| Trim42 |
A |
T |
9: 97,241,293 (GRCm39) |
N646K |
probably damaging |
Het |
| Usp32 |
T |
C |
11: 84,896,735 (GRCm39) |
I1181V |
probably benign |
Het |
| Vwa5b1 |
C |
A |
4: 138,319,221 (GRCm39) |
|
probably null |
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 |
|
R2043:Smg9
|
UTSW |
7 |
24,105,001 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
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'- TCAGAATCTCAAGGGGAGTCC -3'
(R):5'- AATCCTTGAAGAGGGGCATCAG -3'
Sequencing Primer
(F):5'- AGTCCTCCCCAGAAGGTG -3'
(R):5'- TCAGGGAGGACAGAGCATGC -3'
|
| Posted On |
2014-10-30 |
Incidental Mutation