Incidental Mutation 'R0578:Smg9'
ID56309
Institutional Source Beutler Lab
Gene Symbol Smg9
Ensembl Gene ENSMUSG00000002210
Gene Namesmg-9 homolog, nonsense mediated mRNA decay factor (C. elegans)
Synonyms1500002O20Rik, N28092
MMRRC Submission 038768-MU
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #R0578 (G1)
Quality Score176
Status Validated
Chromosome7
Chromosomal Location24399619-24422778 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 24415043 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glycine at position 269 (D269G)
Ref Sequence ENSEMBL: ENSMUSP00000002280 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000002280]
Predicted Effect probably damaging
Transcript: ENSMUST00000002280
AA Change: D269G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000002280
Gene: ENSMUSG00000002210
AA Change: D269G

DomainStartEndE-ValueType
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: D23G
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148288
Meta Mutation Damage Score 0.49 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.9%
  • 10x: 97.5%
  • 20x: 95.0%
Validation Efficiency 100% (53/53)
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: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930407I10Rik A G 15: 82,059,355 Y56C possibly damaging Het
Abca5 A T 11: 110,276,489 C1500* probably null Het
Acr C G 15: 89,569,475 H72Q probably damaging Het
Adam18 T C 8: 24,641,847 D416G possibly damaging Het
Afap1l2 T A 19: 56,915,782 Y691F probably benign Het
Akna A G 4: 63,370,910 S1259P probably benign Het
Atad2 G A 15: 58,105,568 T525I probably damaging Het
Atp2a1 T G 7: 126,450,143 M576L probably benign Het
B4galt6 T C 18: 20,727,956 probably benign Het
Best3 A G 10: 117,008,999 D353G probably benign Het
Btg3 A T 16: 78,364,946 D125E probably benign Het
C87499 T A 4: 88,634,139 I2F probably benign Het
Cabin1 A T 10: 75,713,610 D1320E probably damaging Het
Cachd1 A C 4: 100,994,842 probably benign Het
Cad T C 5: 31,058,776 V151A probably benign Het
Capns1 A T 7: 30,194,028 probably benign Het
Catsperg2 T A 7: 29,704,691 T860S possibly damaging Het
Ccdc61 T C 7: 18,903,475 T76A probably benign Het
Cdipt T A 7: 126,979,530 probably null Het
Cyp2d12 G A 15: 82,556,383 probably benign Het
Dennd4c C A 4: 86,812,422 P852Q probably damaging Het
Dsg2 G A 18: 20,594,234 V613I probably benign Het
Dusp16 G C 6: 134,718,321 L516V probably damaging Het
Eif2ak4 T G 2: 118,474,991 probably benign Het
Faf2 C T 13: 54,621,845 A2V possibly damaging Het
Gas2l3 A G 10: 89,417,075 I236T probably damaging Het
Gm6605 C A 7: 38,448,275 noncoding transcript Het
Got1 G T 19: 43,515,783 S66R probably benign Het
Gpr149 T A 3: 62,602,689 H335L possibly damaging Het
Hadhb A G 5: 30,178,806 I342M probably benign Het
Helz T A 11: 107,686,400 V1859D unknown Het
Htr1a T A 13: 105,445,087 N278K probably damaging Het
Inppl1 T C 7: 101,831,588 E355G probably damaging Het
Isl2 A G 9: 55,545,035 Y297C probably damaging Het
Kat7 T C 11: 95,291,524 H250R probably benign Het
Klhl30 A T 1: 91,354,352 D225V probably benign Het
Mtch2 T C 2: 90,852,830 probably benign Het
Muc4 C A 16: 32,755,690 probably benign Het
Ncoa7 A C 10: 30,701,917 probably null Het
Nuf2 T A 1: 169,510,549 probably benign Het
Olfr767 A G 10: 129,079,193 Y257H probably damaging Het
Olfr994 T C 2: 85,430,673 D52G probably benign Het
Pced1a T A 2: 130,419,843 S297C probably damaging Het
Pi15 A T 1: 17,602,849 K91* probably null Het
Pla2g4e C T 2: 120,244,681 probably benign Het
Plce1 A T 19: 38,777,939 H2136L probably damaging Het
Plec A G 15: 76,176,884 L2973P probably damaging Het
Poln A G 5: 34,014,338 I695T probably damaging Het
R3hdm1 C T 1: 128,231,437 Q950* probably null Het
Rxra C T 2: 27,759,570 A429V probably damaging Het
Scnn1a G A 6: 125,322,244 G96S probably damaging Het
Senp5 T A 16: 31,989,345 T337S possibly damaging Het
Srsf11 C T 3: 158,012,067 probably benign Het
Tmtc1 C T 6: 148,355,218 probably benign Het
Vmn2r19 T C 6: 123,335,972 V667A probably damaging Het
Other mutations in Smg9
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01100:Smg9 APN 7 24416951 missense probably damaging 1.00
IGL01432:Smg9 APN 7 24421266 critical splice donor site probably null
IGL01869:Smg9 APN 7 24416524 missense probably damaging 1.00
IGL02376:Smg9 APN 7 24415030 missense probably benign 0.01
IGL03175:Smg9 APN 7 24422305 missense probably damaging 1.00
IGL03204:Smg9 APN 7 24420912 missense probably benign 0.02
R0318:Smg9 UTSW 7 24420888 missense possibly damaging 0.80
R0786:Smg9 UTSW 7 24420864 missense probably benign 0.03
R2043:Smg9 UTSW 7 24405576 missense possibly damaging 0.92
R2355:Smg9 UTSW 7 24420121 critical splice donor site probably null
R3033:Smg9 UTSW 7 24416524 missense probably damaging 1.00
R4091:Smg9 UTSW 7 24420867 missense probably null 0.01
R4773:Smg9 UTSW 7 24407594 missense possibly damaging 0.84
R5023:Smg9 UTSW 7 24405872 missense possibly damaging 0.94
R5517:Smg9 UTSW 7 24414913 unclassified probably benign
R6320:Smg9 UTSW 7 24420861 missense probably benign
R6394:Smg9 UTSW 7 24422307 missense probably damaging 1.00
R7156:Smg9 UTSW 7 24420861 missense probably benign
R7269:Smg9 UTSW 7 24406070 missense possibly damaging 0.88
R7311:Smg9 UTSW 7 24420633 missense probably benign 0.14
Predicted Primers PCR Primer
(F):5'- GAATCTCAGCTCCAGTGTCCACTTC -3'
(R):5'- GCCTGGACTGTTACAATGACTCCTC -3'

Sequencing Primer
(F):5'- CAGTGTCCACTTCTCAGGG -3'
(R):5'- TGTTACAATGACTCCTCAGAGC -3'
Posted On2013-07-11