Incidental Mutation 'IGL03299:Nmd3'
ID416173
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Nmd3
Ensembl Gene ENSMUSG00000027787
Gene NameNMD3 ribosome export adaptor
SynonymsC87860
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.961) question?
Stock #IGL03299
Quality Score
Status
Chromosome3
Chromosomal Location69721985-69756373 bp(+) (GRCm38)
Type of Mutationsplice site (4020 bp from exon)
DNA Base Change (assembly) C to T at 69730429 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000115736 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029358] [ENSMUST00000135266] [ENSMUST00000143041] [ENSMUST00000143249]
Predicted Effect probably null
Transcript: ENSMUST00000029358
AA Change: Q128*
SMART Domains Protein: ENSMUSP00000029358
Gene: ENSMUSG00000027787
AA Change: Q128*

DomainStartEndE-ValueType
Pfam:NMD3 17 246 6.6e-82 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000127211
Predicted Effect probably benign
Transcript: ENSMUST00000135266
SMART Domains Protein: ENSMUSP00000142290
Gene: ENSMUSG00000027787

DomainStartEndE-ValueType
Pfam:NMD3 17 128 2e-31 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000143041
Predicted Effect probably null
Transcript: ENSMUST00000143249
SMART Domains Protein: ENSMUSP00000115736
Gene: ENSMUSG00000027787

DomainStartEndE-ValueType
Pfam:NMD3 17 76 1.3e-19 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000194168
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Ribosomal 40S and 60S subunits associate in the nucleolus and are exported to the cytoplasm. The protein encoded by this gene is involved in the passage of the 60S subunit through the nuclear pore complex and into the cytoplasm. Several transcript variants exist for this gene, but the full-length natures of only two have been described to date. [provided by RefSeq, Feb 2016]
Allele List at MGI
Other mutations in this stock
Total: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921511C20Rik A G X: 127,395,853 probably benign Het
Abca17 A T 17: 24,265,591 C1566S probably damaging Het
Akr1cl A T 1: 65,024,715 L105H probably damaging Het
Ano1 A G 7: 144,654,256 F256S probably damaging Het
Arfip2 C T 7: 105,637,943 R138H probably damaging Het
Cers6 T A 2: 68,861,784 M50K probably benign Het
Dnah1 G A 14: 31,315,122 Q256* probably null Het
Dync1h1 G A 12: 110,619,210 E852K possibly damaging Het
Fars2 C T 13: 36,537,410 Q443* probably null Het
Glb1l3 T C 9: 26,859,452 N106S probably damaging Het
Haus7 T C X: 73,453,064 probably null Het
Hectd1 C T 12: 51,800,888 probably benign Het
Hyal5 G T 6: 24,877,882 G326C probably damaging Het
Ibtk A T 9: 85,721,136 D605E probably benign Het
Kif26b T C 1: 178,821,560 L415P probably benign Het
Lrrc37a C T 11: 103,497,673 E2309K unknown Het
Muc5b A G 7: 141,841,380 D41G unknown Het
Mxra7 A G 11: 116,804,534 probably benign Het
Ncoa6 T C 2: 155,407,287 T1366A probably damaging Het
Olfr776 T C 10: 129,261,327 V122A probably benign Het
Pla2g4a T C 1: 149,851,367 N546S probably damaging Het
Prkcz T C 4: 155,286,790 T139A possibly damaging Het
Rarb T C 14: 16,434,168 K337E probably damaging Het
Rps6ka4 C T 19: 6,832,247 probably benign Het
Scamp2 A G 9: 57,577,740 probably null Het
Scn3a T A 2: 65,497,516 M877L probably benign Het
Sh3pxd2b T C 11: 32,411,448 probably benign Het
Slc17a2 T C 13: 23,821,111 probably null Het
Slc22a29 C T 19: 8,162,648 probably null Het
Srbd1 A T 17: 86,120,659 I382N possibly damaging Het
Tm7sf2 T C 19: 6,062,928 I387M probably benign Het
Wfs1 C A 5: 36,968,387 E311* probably null Het
Zc3h13 G A 14: 75,293,941 R93H probably damaging Het
Other mutations in Nmd3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00402:Nmd3 APN 3 69745240 missense possibly damaging 0.63
IGL01014:Nmd3 APN 3 69726386 missense probably benign 0.00
IGL01289:Nmd3 APN 3 69724287 missense possibly damaging 0.85
IGL02566:Nmd3 APN 3 69739914 unclassified probably benign
IGL03259:Nmd3 APN 3 69745243 missense possibly damaging 0.49
IGL03382:Nmd3 APN 3 69735088 missense probably damaging 0.99
R0017:Nmd3 UTSW 3 69736092 splice site probably null
R0025:Nmd3 UTSW 3 69748321 missense probably damaging 1.00
R0350:Nmd3 UTSW 3 69743574 missense probably damaging 1.00
R1136:Nmd3 UTSW 3 69746716 splice site probably benign
R1635:Nmd3 UTSW 3 69739984 missense probably benign 0.03
R3081:Nmd3 UTSW 3 69724399 splice site probably benign
R3686:Nmd3 UTSW 3 69746762 missense probably damaging 1.00
R3758:Nmd3 UTSW 3 69724308 nonsense probably null
R4384:Nmd3 UTSW 3 69724398 splice site probably benign
R4774:Nmd3 UTSW 3 69745236 missense probably benign 0.11
R4778:Nmd3 UTSW 3 69731591 nonsense probably null
R4953:Nmd3 UTSW 3 69731637 missense possibly damaging 0.92
R5000:Nmd3 UTSW 3 69717402 unclassified probably benign
R5182:Nmd3 UTSW 3 69722468 critical splice donor site probably null
R6043:Nmd3 UTSW 3 69745247 missense probably benign
R6355:Nmd3 UTSW 3 69729347 missense probably benign 0.22
R6760:Nmd3 UTSW 3 69746837 critical splice donor site probably null
R7869:Nmd3 UTSW 3 69726417 missense probably damaging 1.00
R8024:Nmd3 UTSW 3 69729965 unclassified probably benign
Posted On2016-08-02