Incidental Mutation 'R0786:Smg9'
ID |
76856 |
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 |
038966-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R0786 (G1)
|
Quality Score |
187 |
Status
|
Not validated
|
Chromosome |
7 |
Chromosomal Location |
24099106-24122197 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 24120289 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Serine
at position 421
(F421S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000002280
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000002280]
|
AlphaFold |
Q9DB90 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000002280
AA Change: F421S
PolyPhen 2
Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)
|
SMART Domains |
Protein: ENSMUSP00000002280 Gene: ENSMUSG00000002210 AA Change: F421S
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: F96S
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146686
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148288
|
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 96.6%
- 20x: 92.6%
|
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: 42 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adrb3 |
T |
C |
8: 27,716,880 (GRCm39) |
|
probably benign |
Het |
Atg2b |
T |
C |
12: 105,602,767 (GRCm39) |
H1592R |
probably benign |
Het |
Bpifb1 |
C |
T |
2: 154,044,581 (GRCm39) |
A16V |
probably benign |
Het |
Cep57 |
T |
A |
9: 13,721,166 (GRCm39) |
Y271F |
probably damaging |
Het |
Cfap54 |
A |
T |
10: 92,803,397 (GRCm39) |
N1548K |
possibly damaging |
Het |
Chrna6 |
A |
T |
8: 27,898,408 (GRCm39) |
D103E |
probably benign |
Het |
Clec12b |
T |
C |
6: 129,357,651 (GRCm39) |
N69S |
probably benign |
Het |
Col27a1 |
T |
C |
4: 63,209,815 (GRCm39) |
|
probably null |
Het |
Cwh43 |
T |
A |
5: 73,565,526 (GRCm39) |
Y30* |
probably null |
Het |
Dnai7 |
A |
G |
6: 145,127,483 (GRCm39) |
|
probably null |
Het |
Dsg4 |
T |
C |
18: 20,582,429 (GRCm39) |
|
probably null |
Het |
Efna3 |
T |
C |
3: 89,223,880 (GRCm39) |
N103S |
probably damaging |
Het |
Efr3a |
A |
G |
15: 65,725,400 (GRCm39) |
D532G |
possibly damaging |
Het |
Fam227a |
A |
T |
15: 79,510,469 (GRCm39) |
V395D |
probably benign |
Het |
Fes |
T |
A |
7: 80,036,668 (GRCm39) |
D93V |
probably damaging |
Het |
Gbp3 |
T |
A |
3: 142,276,732 (GRCm39) |
M510K |
possibly damaging |
Het |
Gpr12 |
A |
T |
5: 146,520,314 (GRCm39) |
S44T |
probably damaging |
Het |
Gpr179 |
T |
C |
11: 97,234,100 (GRCm39) |
N583S |
probably damaging |
Het |
Hipk1 |
T |
C |
3: 103,651,620 (GRCm39) |
T1093A |
probably benign |
Het |
Hspb1 |
T |
C |
5: 135,918,097 (GRCm39) |
L148P |
probably damaging |
Het |
Kirrel3 |
A |
G |
9: 34,946,161 (GRCm39) |
N640S |
probably damaging |
Het |
Mak |
G |
T |
13: 41,199,545 (GRCm39) |
Q365K |
probably benign |
Het |
Melk |
A |
G |
4: 44,303,649 (GRCm39) |
Y14C |
unknown |
Het |
Myh7 |
T |
C |
14: 55,230,330 (GRCm39) |
M1V |
probably null |
Het |
Nsmf |
A |
G |
2: 24,950,522 (GRCm39) |
Y330C |
probably damaging |
Het |
Parp14 |
A |
G |
16: 35,661,172 (GRCm39) |
F1592S |
possibly damaging |
Het |
Pnpla6 |
A |
T |
8: 3,573,317 (GRCm39) |
I394F |
probably benign |
Het |
Ppl |
T |
C |
16: 4,906,918 (GRCm39) |
R1126G |
probably damaging |
Het |
Prss8 |
C |
T |
7: 127,525,646 (GRCm39) |
R291Q |
probably benign |
Het |
Ptpro |
T |
A |
6: 137,420,592 (GRCm39) |
V1007D |
probably damaging |
Het |
Rasgrp1 |
G |
T |
2: 117,130,980 (GRCm39) |
D155E |
probably benign |
Het |
Recql5 |
T |
C |
11: 115,786,628 (GRCm39) |
I563V |
probably benign |
Het |
Rhbg |
C |
T |
3: 88,151,875 (GRCm39) |
M394I |
probably benign |
Het |
Rnf130 |
A |
G |
11: 49,978,264 (GRCm39) |
D275G |
probably damaging |
Het |
Tgm2 |
T |
C |
2: 157,966,301 (GRCm39) |
E451G |
probably damaging |
Het |
Tle1 |
T |
A |
4: 72,117,598 (GRCm39) |
T21S |
probably damaging |
Het |
Tmc5 |
T |
C |
7: 118,226,433 (GRCm39) |
I266T |
possibly damaging |
Het |
Tmigd3 |
T |
A |
3: 105,824,318 (GRCm39) |
C96S |
probably damaging |
Het |
Trdn |
A |
T |
10: 33,181,077 (GRCm39) |
T361S |
probably benign |
Het |
Vgll3 |
A |
T |
16: 65,657,568 (GRCm39) |
Q261L |
probably benign |
Het |
Vmn2r104 |
A |
T |
17: 20,262,987 (GRCm39) |
I158K |
probably benign |
Het |
Zfp964 |
A |
G |
8: 70,116,731 (GRCm39) |
K444E |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- TGATTGACCAGCTCATGGCACAC -3'
(R):5'- TGCTTCAGACCAGCTTTTCCCAAAC -3'
Sequencing Primer
(F):5'- CTACAAGGGTGAGCATCTCTG -3'
(R):5'- GTGCTGAAACACACAGCC -3'
|
Posted On |
2013-10-16 |