Incidental Mutation 'IGL01869:Smg9'
ID178636
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Smg9
Ensembl Gene ENSMUSG00000002210
Gene Namesmg-9 homolog, nonsense mediated mRNA decay factor (C. elegans)
Synonyms1500002O20Rik, N28092
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL01869
Quality Score
Status
Chromosome7
Chromosomal Location24399619-24422778 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 24416524 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glycine at position 280 (D280G)
Ref Sequence ENSEMBL: ENSMUSP00000002280 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000002280]
Predicted Effect probably damaging
Transcript: ENSMUST00000002280
AA Change: D280G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000002280
Gene: ENSMUSG00000002210
AA Change: D280G

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 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: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700026F02Rik A G 8: 71,043,045 noncoding transcript Het
Adam29 T C 8: 55,871,697 H574R probably damaging Het
Arap1 C A 7: 101,400,283 T984K probably damaging Het
Ccdc146 A T 5: 21,316,839 S396T probably benign Het
Col6a3 T C 1: 90,773,048 K2587E unknown Het
Cyp3a44 A G 5: 145,790,686 S278P probably damaging Het
Daw1 T G 1: 83,182,244 probably benign Het
Dnah17 T C 11: 118,052,676 K3200R probably benign Het
Efhd2 A G 4: 141,874,602 F89S probably damaging Het
Fras1 A G 5: 96,708,783 probably benign Het
Ggps1 T C 13: 14,054,394 D68G probably damaging Het
Gm10718 A T 9: 3,025,118 Y194F probably benign Het
Gm21738 G A 14: 19,416,979 S144L probably benign Het
Gm3604 A T 13: 62,370,140 C134S probably damaging Het
Gpaa1 A G 15: 76,332,998 T178A probably benign Het
Lama3 A G 18: 12,524,763 N312S possibly damaging Het
Npepps T C 11: 97,236,122 I437M probably damaging Het
Olfr1495 A G 19: 13,769,170 D276G probably benign Het
Olfr266 C T 3: 106,822,026 D178N probably benign Het
Rcor1 C A 12: 111,103,759 T330K possibly damaging Het
Sbno2 A G 10: 80,060,392 probably null Het
Sema3g A G 14: 31,223,667 E478G probably damaging Het
Smtnl1 A T 2: 84,811,397 *460R probably null Het
Syde1 A G 10: 78,588,919 C360R possibly damaging Het
Szt2 A G 4: 118,399,071 V197A possibly damaging Het
Tnrc6c T C 11: 117,755,448 V1405A possibly damaging Het
Ttbk1 A G 17: 46,447,063 S882P probably damaging Het
Tubgcp4 T A 2: 121,175,788 H116Q possibly damaging Het
Vmn1r192 T A 13: 22,187,580 N157Y probably damaging Het
Vmn1r60 C T 7: 5,544,229 V291M probably benign Het
Vmn2r-ps159 C T 4: 156,338,254 noncoding transcript Het
Xpo5 C T 17: 46,242,207 P1184L possibly damaging Het
Zfp946 T G 17: 22,454,703 I146S probably benign 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
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
R0578:Smg9 UTSW 7 24415043 missense probably damaging 1.00
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
Posted On2014-05-07