Incidental Mutation 'R5229:Nudcd3'
ID 403667
Institutional Source Beutler Lab
Gene Symbol Nudcd3
Ensembl Gene ENSMUSG00000053838
Gene Name NudC domain containing 3
Synonyms
MMRRC Submission 042802-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.948) question?
Stock # R5229 (G1)
Quality Score 225
Status Validated
Chromosome 11
Chromosomal Location 6055705-6150190 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 6143238 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 80 (V80A)
Ref Sequence ENSEMBL: ENSMUSP00000123108 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000066496] [ENSMUST00000135631]
AlphaFold Q8R1N4
Predicted Effect probably benign
Transcript: ENSMUST00000066496
AA Change: V144A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000064668
Gene: ENSMUSG00000053838
AA Change: V144A

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 probably benign
Transcript: ENSMUST00000135631
AA Change: V80A

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000123108
Gene: ENSMUSG00000053838
AA Change: V80A

DomainStartEndE-ValueType
coiled coil region 7 38 N/A INTRINSIC
PDB:1WGV|A 114 176 1e-29 PDB
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140700
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.1%
Validation Efficiency 98% (62/63)
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: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930444P10Rik T C 1: 16,151,183 (GRCm39) probably benign Het
4930562C15Rik A G 16: 4,667,915 (GRCm39) I435M possibly damaging Het
Adcy5 A G 16: 35,089,440 (GRCm39) I546V probably damaging Het
Apob A G 12: 8,027,806 (GRCm39) T10A probably benign Het
Brwd1 C A 16: 95,803,409 (GRCm39) D2254Y possibly damaging Het
Bub1b C A 2: 118,460,470 (GRCm39) D600E probably damaging Het
Cnga1 A G 5: 72,766,843 (GRCm39) S199P probably damaging Het
Cyp3a11 G T 5: 145,791,945 (GRCm39) L483I probably benign Het
Depp1 T C 6: 116,628,992 (GRCm39) S112P possibly damaging Het
Dpysl3 C A 18: 43,466,016 (GRCm39) G457V probably damaging Het
Eif4g3 C A 4: 137,824,105 (GRCm39) P36T possibly damaging Het
Epb41 C A 4: 131,706,246 (GRCm39) G415C probably damaging Het
Erap1 G A 13: 74,808,494 (GRCm39) V69M possibly damaging Het
F2 A T 2: 91,460,586 (GRCm39) Y301* probably null Het
F2rl2 A T 13: 95,837,195 (GRCm39) N80I possibly damaging Het
Fam237b A T 5: 5,625,565 (GRCm39) Y87F possibly damaging Het
Gm15446 T G 5: 110,091,036 (GRCm39) H429Q probably damaging Het
Gpat3 G A 5: 101,031,290 (GRCm39) G148D probably damaging Het
Gpr26 A T 7: 131,585,976 (GRCm39) R315S probably damaging Het
Hdac9 A C 12: 34,487,163 (GRCm39) H100Q probably damaging Het
Heatr5a A T 12: 51,994,761 (GRCm39) V457D probably benign Het
Igkv10-96 A G 6: 68,609,223 (GRCm39) M24T possibly damaging Het
Igkv2-95-2 A G 6: 68,625,095 (GRCm39) noncoding transcript Het
Kdm4a G A 4: 118,003,802 (GRCm39) S758F probably damaging Het
Lrg1 A G 17: 56,427,154 (GRCm39) W273R probably damaging Het
Man2a1 A T 17: 65,017,729 (GRCm39) Q658H probably benign Het
Mapkapk5 T C 5: 121,671,454 (GRCm39) probably null Het
Mcm6 T C 1: 128,261,321 (GRCm39) D761G possibly damaging Het
Myh8 A T 11: 67,175,310 (GRCm39) Y286F probably damaging Het
Nbn C T 4: 15,963,893 (GRCm39) T98I probably damaging Het
Nrdc T C 4: 108,906,305 (GRCm39) S685P probably damaging Het
Or10al5 A G 17: 38,063,192 (GRCm39) H149R probably benign Het
Or5p54 A G 7: 107,554,376 (GRCm39) H176R probably damaging Het
Pdcd6ip A T 9: 113,507,401 (GRCm39) M390K probably damaging Het
Pon1 C T 6: 5,177,295 (GRCm39) V205I possibly damaging Het
Ppp4r2 C A 6: 100,842,176 (GRCm39) H212Q probably benign Het
Pramel32 T C 4: 88,548,372 (GRCm39) D11G possibly damaging Het
Prl2c5 G A 13: 13,360,441 (GRCm39) C33Y probably damaging Het
Rbak A G 5: 143,159,917 (GRCm39) F379L probably damaging Het
Rcc2 G A 4: 140,444,340 (GRCm39) D344N probably damaging Het
Rgs3 T C 4: 62,620,424 (GRCm39) L550P probably damaging Het
Rnasek A T 11: 70,130,486 (GRCm39) M25K probably damaging Het
Scgb1b24 A T 7: 33,443,520 (GRCm39) T60S possibly damaging Het
Scn5a A G 9: 119,365,042 (GRCm39) F392S probably damaging Het
Scpep1 A T 11: 88,827,871 (GRCm39) V209E probably damaging Het
Slc35g1 A G 19: 38,391,080 (GRCm39) probably null Het
Sorbs1 A G 19: 40,329,151 (GRCm39) I554T probably damaging Het
Spats1 A G 17: 45,777,059 (GRCm39) probably benign Het
Tdp1 A G 12: 99,859,919 (GRCm39) Q202R probably damaging Het
Trav6-5 T G 14: 53,729,045 (GRCm39) S102A probably damaging Het
Tspan2 T C 3: 102,676,215 (GRCm39) M208T probably damaging Het
Ube4b A G 4: 149,471,635 (GRCm39) S84P probably damaging Het
Vmn1r237 C A 17: 21,534,633 (GRCm39) Q119K probably benign Het
Vmn2r125 C T 4: 156,703,333 (GRCm39) T237I probably benign Het
Zfp65 A T 13: 67,856,929 (GRCm39) S117T probably benign 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
R5393:Nudcd3 UTSW 11 6,063,274 (GRCm39) missense probably damaging 1.00
R5770:Nudcd3 UTSW 11 6,063,286 (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'- CACTAAGGTGTTTGAGTGCTGC -3'
(R):5'- ACATTTGATCACATGGCCCG -3'

Sequencing Primer
(F):5'- GGCTGTCTGCAAACCACTGATAG -3'
(R):5'- GCCCGCCAGGATGATGAG -3'
Posted On 2016-07-22