Incidental Mutation 'IGL00402:Nmd3'
ID6877
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 #IGL00402
Quality Score
Status
Chromosome3
Chromosomal Location69721985-69756373 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 69745240 bp
ZygosityHeterozygous
Amino Acid Change Asparagine to Lysine at position 386 (N386K)
Ref Sequence ENSEMBL: ENSMUSP00000029358 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029358]
Predicted Effect possibly damaging
Transcript: ENSMUST00000029358
AA Change: N386K

PolyPhen 2 Score 0.626 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000029358
Gene: ENSMUSG00000027787
AA Change: N386K

DomainStartEndE-ValueType
Pfam:NMD3 17 246 6.6e-82 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150210
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: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca17 A T 17: 24,295,191 L846H probably benign Het
Abca6 A T 11: 110,184,709 L1319I probably damaging Het
Apob C T 12: 7,993,065 probably benign Het
Atg16l2 A C 7: 101,296,153 S268R probably benign Het
Atp1b3 T C 9: 96,333,703 probably benign Het
Atxn7 T G 14: 14,096,324 probably benign Het
Birc6 G A 17: 74,573,563 probably benign Het
C330027C09Rik T A 16: 49,001,815 H234Q probably damaging Het
C4b G A 17: 34,734,428 T1027I probably damaging Het
Caskin1 T C 17: 24,503,889 I577T probably damaging Het
Cbx6 A G 15: 79,828,929 V99A possibly damaging Het
Ccr9 A C 9: 123,780,044 I252L probably benign Het
Cdh8 A T 8: 99,279,690 D88E probably damaging Het
Cep135 T C 5: 76,601,459 S258P probably damaging Het
Cep57l1 T G 10: 41,721,551 probably benign Het
Col12a1 T C 9: 79,681,537 T1099A possibly damaging Het
Col4a4 C T 1: 82,491,641 G802D unknown Het
Ddx41 T C 13: 55,531,399 T545A probably damaging Het
Disc1 A T 8: 125,088,275 T293S probably benign Het
Fam13b A T 18: 34,454,718 V509D probably damaging Het
Ffar4 C T 19: 38,107,389 P192L probably benign Het
Fn1 C A 1: 71,641,163 C461F probably damaging Het
Gm14226 G T 2: 155,025,158 S345I probably damaging Het
Gopc T C 10: 52,349,230 K308E probably damaging Het
Hapln2 A T 3: 88,024,334 N28K possibly damaging Het
Hectd1 T C 12: 51,769,108 S1394G possibly damaging Het
Hectd1 T C 12: 51,759,432 H1807R probably benign Het
Ifnl2 A T 7: 28,508,865 V193D possibly damaging Het
Il1rap T A 16: 26,722,401 M464K possibly damaging Het
Krtap16-1 A T 11: 99,985,731 C282* probably null Het
Ltv1 C T 10: 13,190,583 V100I probably benign Het
Mcf2l T C 8: 13,000,857 S308P probably damaging Het
Narf G A 11: 121,238,518 probably null Het
Noxo1 C T 17: 24,698,936 probably benign Het
Olfr390 T A 11: 73,787,580 I214N probably damaging Het
Ppic C T 18: 53,409,294 G114D probably damaging Het
Ppp4r1 T C 17: 65,816,019 S339P probably benign Het
Ptprg T A 14: 12,215,992 L1147Q probably damaging Het
Qser1 A G 2: 104,786,981 V1072A probably benign Het
Rad54l2 T A 9: 106,700,561 M1054L probably benign Het
Scara5 A C 14: 65,738,415 probably benign Het
Smtnl2 C T 11: 72,403,259 probably benign Het
Spink8 A T 9: 109,819,219 I25F probably benign Het
Vit G A 17: 78,601,907 probably null Het
Vps13b A G 15: 35,926,226 D3891G possibly damaging Het
Zfp207 T A 11: 80,393,085 M277K probably benign Het
Zp2 T C 7: 120,133,400 D641G probably benign Het
Other mutations in Nmd3
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
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 On2012-04-20