Incidental Mutation 'IGL01371:Smg5'
ID76163
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Smg5
Ensembl Gene ENSMUSG00000001415
Gene NameSmg-5 homolog, nonsense mediated mRNA decay factor (C. elegans)
Synonyms
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL01371
Quality Score
Status
Chromosome3
Chromosomal Location88336260-88362338 bp(+) (GRCm38)
Type of Mutationunclassified
DNA Base Change (assembly) A to G at 88359644 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000114166 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000001451] [ENSMUST00000147948] [ENSMUST00000147991]
Predicted Effect probably benign
Transcript: ENSMUST00000001451
SMART Domains Protein: ENSMUSP00000001451
Gene: ENSMUSG00000001415

DomainStartEndE-ValueType
low complexity region 4 14 N/A INTRINSIC
Pfam:EST1 77 189 1.1e-26 PFAM
Pfam:EST1_DNA_bind 197 427 4.6e-53 PFAM
low complexity region 447 468 N/A INTRINSIC
low complexity region 481 501 N/A INTRINSIC
Pfam:EST1_DNA_bind 611 745 3.7e-9 PFAM
coiled coil region 801 842 N/A INTRINSIC
PINc 856 979 3.23e-15 SMART
low complexity region 990 999 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000123200
Predicted Effect probably benign
Transcript: ENSMUST00000147948
SMART Domains Protein: ENSMUSP00000119656
Gene: ENSMUSG00000041423

DomainStartEndE-ValueType
Pfam:HlyIII 59 161 6.8e-18 PFAM
transmembrane domain 180 202 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000147991
SMART Domains Protein: ENSMUSP00000114166
Gene: ENSMUSG00000041423

DomainStartEndE-ValueType
Pfam:HlyIII 43 271 5.5e-51 PFAM
transmembrane domain 292 314 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149640
Predicted Effect noncoding transcript
Transcript: ENSMUST00000192377
Predicted Effect noncoding transcript
Transcript: ENSMUST00000193224
Predicted Effect noncoding transcript
Transcript: ENSMUST00000194359
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] SMG5 is involved in nonsense-mediated mRNA decay (Ohnishi et al., 2003 [PubMed 14636577]).[supplied by OMIM, Mar 2008]
Allele List at MGI
Other mutations in this stock
Total: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1300017J02Rik T C 9: 103,254,776 E504G possibly damaging Het
Abcc9 C T 6: 142,656,614 R691Q probably benign Het
AI314180 A G 4: 58,809,718 L1583P probably damaging Het
Ambra1 G T 2: 91,825,286 G700W probably damaging Het
Atp6v1c1 A G 15: 38,682,960 I198V probably benign Het
Bptf T C 11: 107,055,907 N2353S probably benign Het
Cd84 A T 1: 171,886,370 T312S probably benign Het
Chl1 G T 6: 103,715,364 C1064F probably damaging Het
Clca4a T C 3: 144,960,672 D473G probably damaging Het
Dsp A G 13: 38,193,617 R1793G probably benign Het
Dync1h1 A G 12: 110,638,851 N2374S probably benign Het
Gm43191 A T 3: 116,645,463 I130N probably damaging Het
Gm5134 T G 10: 76,004,747 L475R probably damaging Het
Grm1 A G 10: 10,720,039 V615A probably benign Het
Loxl1 T A 9: 58,294,422 Q462L possibly damaging Het
Nwd1 T C 8: 72,675,115 W755R probably damaging Het
Olfr1102 A T 2: 87,002,923 K318M probably benign Het
Olfr1408 A G 1: 173,130,531 S229P possibly damaging Het
Olfr1459 G A 19: 13,145,828 T277I possibly damaging Het
Otud4 T C 8: 79,673,761 F1034L probably damaging Het
Pakap C A 4: 57,856,325 D551E probably benign Het
Panx3 T G 9: 37,661,475 T260P probably benign Het
Ppfia4 A T 1: 134,328,086 S194T probably benign Het
Rnf135 T A 11: 80,189,255 I124N probably benign Het
Rpf1 T C 3: 146,507,547 N283S probably damaging Het
Stard9 A G 2: 120,701,368 E2702G probably benign Het
Tbk1 A T 10: 121,559,871 M439K probably benign Het
Tmem235 T C 11: 117,862,306 L85P possibly damaging Het
Trhde A T 10: 114,588,500 V460E possibly damaging Het
Ttn T C 2: 76,790,264 probably benign Het
Vmn1r83 A G 7: 12,321,233 F299S probably benign Het
Other mutations in Smg5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00433:Smg5 APN 3 88351428 nonsense probably null
IGL00902:Smg5 APN 3 88353085 missense probably benign 0.00
IGL00990:Smg5 APN 3 88343038 critical splice donor site probably null
IGL01536:Smg5 APN 3 88349245 missense possibly damaging 0.58
IGL02215:Smg5 APN 3 88352998 missense possibly damaging 0.47
IGL03366:Smg5 APN 3 88346452 nonsense probably null
R0013:Smg5 UTSW 3 88349233 missense probably benign 0.00
R0017:Smg5 UTSW 3 88351105 missense probably damaging 1.00
R0017:Smg5 UTSW 3 88351105 missense probably damaging 1.00
R0129:Smg5 UTSW 3 88349233 missense probably benign 0.00
R0153:Smg5 UTSW 3 88353872 unclassified probably benign
R1386:Smg5 UTSW 3 88355671 missense probably damaging 1.00
R1941:Smg5 UTSW 3 88345380 missense possibly damaging 0.71
R2185:Smg5 UTSW 3 88351561 missense probably benign
R2282:Smg5 UTSW 3 88345398 missense probably benign 0.02
R3615:Smg5 UTSW 3 88336451 missense possibly damaging 0.94
R3616:Smg5 UTSW 3 88336451 missense possibly damaging 0.94
R4008:Smg5 UTSW 3 88349158 missense probably benign 0.01
R4687:Smg5 UTSW 3 88342469 missense possibly damaging 0.83
R4726:Smg5 UTSW 3 88336451 missense possibly damaging 0.94
R4801:Smg5 UTSW 3 88355692 nonsense probably null
R4802:Smg5 UTSW 3 88355692 nonsense probably null
R4977:Smg5 UTSW 3 88355725 nonsense probably null
R5384:Smg5 UTSW 3 88351293 missense probably damaging 1.00
R5443:Smg5 UTSW 3 88354589 missense probably damaging 0.99
R5779:Smg5 UTSW 3 88351618 unclassified probably benign
R5860:Smg5 UTSW 3 88342907 missense probably damaging 0.97
R6080:Smg5 UTSW 3 88351509 missense probably benign
R6263:Smg5 UTSW 3 88341901 missense possibly damaging 0.90
R6431:Smg5 UTSW 3 88351220 missense probably benign 0.00
R6722:Smg5 UTSW 3 88353025 missense probably damaging 0.99
R6847:Smg5 UTSW 3 88342552 missense probably damaging 1.00
R6950:Smg5 UTSW 3 88349269 critical splice donor site probably null
R7091:Smg5 UTSW 3 88351347 missense probably benign 0.00
R7395:Smg5 UTSW 3 88361071 missense probably damaging 0.99
Posted On2013-10-07