Incidental Mutation 'R5770:Nudcd3'
ID 446506
Institutional Source Beutler Lab
Gene Symbol Nudcd3
Ensembl Gene ENSMUSG00000053838
Gene Name NudC domain containing 3
Synonyms
MMRRC Submission 043370-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.948) question?
Stock # R5770 (G1)
Quality Score 225
Status Validated
Chromosome 11
Chromosomal Location 6055705-6150190 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 6063286 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 201 (D201G)
Ref Sequence ENSEMBL: ENSMUSP00000123108 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000066496] [ENSMUST00000135631]
AlphaFold Q8R1N4
Predicted Effect probably damaging
Transcript: ENSMUST00000066496
AA Change: D313G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000064668
Gene: ENSMUSG00000053838
AA Change: D313G

DomainStartEndE-ValueType
Pfam:Nudc_N 8 67 2.8e-26 PFAM
coiled coil region 71 102 N/A INTRINSIC
Pfam:CS 190 269 7.7e-17 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000109805
SMART Domains Protein: ENSMUSP00000105430
Gene: ENSMUSG00000053838

DomainStartEndE-ValueType
PDB:1WGV|A 14 37 2e-9 PDB
SCOP:d1ejfa_ 18 43 2e-3 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000135631
AA Change: D201G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000123108
Gene: ENSMUSG00000053838
AA Change: D201G

DomainStartEndE-ValueType
coiled coil region 7 38 N/A INTRINSIC
PDB:1WGV|A 114 176 1e-29 PDB
Meta Mutation Damage Score 0.9013 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.8%
  • 10x: 97.5%
  • 20x: 95.9%
Validation Efficiency 93% (64/69)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The product of this gene functions to maintain the stability of dynein intermediate chain. Depletion of this gene product results in aggregation and degradation of dynein intermediate chain, mislocalization of the dynein complex from kinetochores, spindle microtubules, and spindle poles, and loss of gamma-tubulin from spindle poles. The protein localizes to the Golgi apparatus during interphase, and levels of the protein increase after the G1/S transition. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700030C10Rik T C 12: 20,865,460 (GRCm39) noncoding transcript Het
Abhd8 A G 8: 71,909,972 (GRCm39) V392A probably benign Het
Alpk3 A G 7: 80,728,310 (GRCm39) E480G probably benign Het
Ankfy1 C G 11: 72,651,082 (GRCm39) H1011D probably damaging Het
Aoc3 T G 11: 101,222,578 (GRCm39) Y271* probably null Het
Bcl9 T C 3: 97,122,491 (GRCm39) I103V probably benign Het
Cgnl1 C T 9: 71,552,769 (GRCm39) probably null Het
Cyp2c23 T A 19: 44,010,018 (GRCm39) D109V probably damaging Het
Cyp2j13 A T 4: 95,965,669 (GRCm39) W13R probably benign Het
D630003M21Rik T C 2: 158,037,500 (GRCm39) probably benign Het
Desi2 A T 1: 178,084,061 (GRCm39) probably benign Het
Dll3 T C 7: 27,998,434 (GRCm39) E177G possibly damaging Het
Ern2 C T 7: 121,779,130 (GRCm39) G238D possibly damaging Het
Gm11595 G A 11: 99,663,381 (GRCm39) R100C unknown Het
Gm6133 A G 18: 78,393,464 (GRCm39) K153E probably benign Het
Gpr68 A T 12: 100,845,080 (GRCm39) Y155N probably benign Het
Hcrtr2 T A 9: 76,166,948 (GRCm39) I130F probably damaging Het
Hk1 T C 10: 62,122,228 (GRCm39) K489R probably benign Het
Ints13 T C 6: 146,456,571 (GRCm39) N425S probably damaging Het
Itpkc T C 7: 26,912,413 (GRCm39) D578G probably damaging Het
Kcns3 A G 12: 11,142,250 (GRCm39) S150P probably benign Het
Khdrbs3 T A 15: 68,921,312 (GRCm39) probably null Het
Kif11 A G 19: 37,379,313 (GRCm39) I335V probably benign Het
Lrrn4 C G 2: 132,714,076 (GRCm39) C290S probably damaging Het
Macrod2 T C 2: 141,074,102 (GRCm39) probably benign Het
Mgam A G 6: 40,646,738 (GRCm39) N688S probably benign Het
Myh8 G A 11: 67,188,026 (GRCm39) E933K probably damaging Het
Nat8f5 T C 6: 85,794,657 (GRCm39) Y101C probably damaging Het
Nhlrc1 A G 13: 47,168,188 (GRCm39) V23A probably benign Het
Nkx2-3 T A 19: 43,602,972 (GRCm39) F193I probably damaging Het
Nlrp4b T A 7: 10,449,414 (GRCm39) V172E probably benign Het
Nmrk1 G T 19: 18,622,438 (GRCm39) R172S probably benign Het
Oprm1 G A 10: 6,739,026 (GRCm39) G51D probably damaging Het
Or10g9b C T 9: 39,917,634 (GRCm39) V204I probably benign Het
Or13a18 A G 7: 140,190,856 (GRCm39) Y259C probably damaging Het
Or2t44 G A 11: 58,677,420 (GRCm39) R120H probably benign Het
Or2y14 A G 11: 49,405,419 (GRCm39) E318G unknown Het
Or4c12b T A 2: 89,646,893 (GRCm39) D68E probably damaging Het
Or56a3 A T 7: 104,740,102 (GRCm39) I248N probably damaging Het
Or5ac23 A T 16: 59,149,514 (GRCm39) Y119* probably null Het
Pcdh15 T A 10: 74,021,177 (GRCm39) Y130* probably null Het
Pcdh9 G A 14: 94,124,379 (GRCm39) T597I probably damaging Het
Pcdhb19 A G 18: 37,631,090 (GRCm39) N295S possibly damaging Het
Pcnx3 T C 19: 5,731,607 (GRCm39) probably benign Het
Pdzph1 A T 17: 59,186,146 (GRCm39) I1215N probably damaging Het
Phf21a C T 2: 92,182,199 (GRCm39) T405I possibly damaging Het
Pkd1l2 C A 8: 117,781,757 (GRCm39) G763W probably damaging Het
Prox2 A G 12: 85,134,154 (GRCm39) F591L probably benign Het
Robo3 T A 9: 37,330,497 (GRCm39) H1033L possibly damaging Het
Sdha A T 13: 74,471,239 (GRCm39) C222* probably null Het
Sec16a T C 2: 26,304,402 (GRCm39) D2303G probably damaging Het
Shoc1 T C 4: 59,092,466 (GRCm39) I238M probably benign Het
Slc16a5 A G 11: 115,363,604 (GRCm39) K422E possibly damaging Het
Slc22a30 A T 19: 8,363,891 (GRCm39) M232K probably damaging Het
Slc35b3 A T 13: 39,121,734 (GRCm39) F300I probably damaging Het
Spata2l A G 8: 123,962,459 (GRCm39) V34A probably damaging Het
Susd2 C T 10: 75,473,853 (GRCm39) A581T probably damaging Het
Tecta T A 9: 42,256,885 (GRCm39) Q1597L possibly damaging Het
Tgfb1i1 A T 7: 127,847,719 (GRCm39) probably benign Het
Ticam1 TCACACA TCACA 17: 56,577,629 (GRCm39) probably null Het
Tpm3-rs7 A G 14: 113,552,807 (GRCm39) T234A probably benign Het
Usp20 A G 2: 30,907,520 (GRCm39) Y684C probably damaging Het
Zc3h4 T A 7: 16,163,536 (GRCm39) M585K unknown Het
Zfp292 A G 4: 34,806,747 (GRCm39) I2099T probably damaging Het
Other mutations in Nudcd3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01369:Nudcd3 APN 11 6,100,551 (GRCm39) missense probably damaging 1.00
IGL01762:Nudcd3 APN 11 6,100,560 (GRCm39) missense probably damaging 1.00
IGL02818:Nudcd3 APN 11 6,100,635 (GRCm39) splice site probably benign
R4725:Nudcd3 UTSW 11 6,143,475 (GRCm39) missense probably damaging 0.99
R5229:Nudcd3 UTSW 11 6,143,238 (GRCm39) missense probably benign 0.00
R5393:Nudcd3 UTSW 11 6,063,274 (GRCm39) missense probably damaging 1.00
R7826:Nudcd3 UTSW 11 6,100,581 (GRCm39) missense possibly damaging 0.47
R8177:Nudcd3 UTSW 11 6,143,460 (GRCm39) missense possibly damaging 0.63
R8816:Nudcd3 UTSW 11 6,100,587 (GRCm39) missense probably damaging 1.00
R8974:Nudcd3 UTSW 11 6,143,163 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- AATTCCCTAGCTAAGCAGGAC -3'
(R):5'- AATGTTCTTTCCCAGAGGCTTG -3'

Sequencing Primer
(F):5'- AGGACACTGCAGAACTAAAGC -3'
(R):5'- GTCTCCTGCCATACTTGATACAGG -3'
Posted On 2016-11-21