Incidental Mutation 'IGL03382:Nmd3'
ID420719
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: 0.962) question?
Stock #IGL03382
Quality Score
Status
Chromosome3
Chromosomal Location69721985-69756373 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 69735088 bp
ZygosityHeterozygous
Amino Acid Change Lysine to Arginine at position 207 (K207R)
Ref Sequence ENSEMBL: ENSMUSP00000029358 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029358] [ENSMUST00000135266] [ENSMUST00000143041]
Predicted Effect probably damaging
Transcript: ENSMUST00000029358
AA Change: K207R

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000029358
Gene: ENSMUSG00000027787
AA Change: K207R

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 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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9930021J03Rik C T 19: 29,717,276 G1606R probably damaging Het
Aff1 A G 5: 103,841,060 D831G possibly damaging Het
Amer2 A G 14: 60,379,882 K509E possibly damaging Het
Ankrd6 T C 4: 32,808,771 K449E probably damaging Het
Atp8b2 G A 3: 89,948,521 P459L probably benign Het
Atr C T 9: 95,920,822 R1846* probably null Het
Ccdc159 C A 9: 21,931,696 probably null Het
Ccna1 A C 3: 55,047,277 Y338D probably damaging Het
Cpq A T 15: 33,212,943 E36V probably damaging Het
Cyp2c23 A G 19: 44,014,932 I268T probably damaging Het
Dctn2 G T 10: 127,278,188 Q332H probably damaging Het
Dnah17 T A 11: 118,081,943 I2055F probably damaging Het
Dnmt3b A G 2: 153,686,359 H764R probably damaging Het
Gphn T A 12: 78,481,313 I135K probably damaging Het
Hnrnpul1 A G 7: 25,750,984 M1T probably null Het
Htra4 T C 8: 25,029,698 D406G probably benign Het
Klk10 G T 7: 43,784,459 probably benign Het
Lilrb4a T A 10: 51,491,520 W53R probably benign Het
Magel2 T C 7: 62,378,713 V455A probably benign Het
Mrgprb5 T C 7: 48,168,694 T98A probably benign Het
Mrps35 T A 6: 147,049,875 C76* probably null Het
Myh7b C T 2: 155,623,479 R701C probably damaging Het
Nbeal1 G A 1: 60,261,586 probably null Het
Neb T A 2: 52,325,708 M196L probably benign Het
Plxna4 C T 6: 32,202,194 R962Q probably benign Het
Pom121 T C 5: 135,392,407 K230E unknown Het
Psme4 A G 11: 30,807,788 D307G possibly damaging Het
Rnf41 T G 10: 128,438,280 M267R possibly damaging Het
Sis T C 3: 72,928,719 N846D probably benign Het
Slc22a19 T A 19: 7,681,862 I463L probably benign Het
Slc25a39 A T 11: 102,406,204 probably null Het
Slc35b2 C T 17: 45,566,645 R233C probably damaging Het
Slc4a4 T C 5: 89,228,836 L983P probably damaging Het
Sp110 A C 1: 85,577,329 F434C probably benign Het
Tbc1d10a A G 11: 4,209,984 Y123C probably damaging Het
Thbs4 A C 13: 92,769,548 I395S probably benign Het
Triml2 A G 8: 43,193,739 T422A probably benign Het
Ubn2 T C 6: 38,440,447 probably benign Het
Vmn1r15 T A 6: 57,258,570 M141K probably benign Het
Vmn2r80 A G 10: 79,169,528 E333G probably damaging Het
Zfp169 T C 13: 48,491,163 probably benign Het
Zfp942 G A 17: 21,929,102 P182L probably benign 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
IGL03299:Nmd3 APN 3 69730429 splice site probably null
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