Incidental Mutation 'R4725:Nudcd3'
ID 358416
Institutional Source Beutler Lab
Gene Symbol Nudcd3
Ensembl Gene ENSMUSG00000053838
Gene Name NudC domain containing 3
Synonyms
MMRRC Submission 041960-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.948) question?
Stock # R4725 (G1)
Quality Score 225
Status Validated
Chromosome 11
Chromosomal Location 6055705-6150190 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 6143475 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Aspartic acid at position 1 (V1D)
Ref Sequence ENSEMBL: ENSMUSP00000123108 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000066496] [ENSMUST00000135631]
AlphaFold Q8R1N4
Predicted Effect possibly damaging
Transcript: ENSMUST00000066496
AA Change: V65D

PolyPhen 2 Score 0.650 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000064668
Gene: ENSMUSG00000053838
AA Change: V65D

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 damaging
Transcript: ENSMUST00000135631
AA Change: V1D

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000123108
Gene: ENSMUSG00000053838
AA Change: V1D

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 0.6467 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.1%
Validation Efficiency 96% (64/67)
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: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
5830454E08Rik T C 9: 120,406,769 (GRCm39) probably benign Het
Adamts20 T C 15: 94,249,643 (GRCm39) E458G probably damaging Het
Adgrl3 T C 5: 81,914,052 (GRCm39) I1220T possibly damaging Het
Aldh1a1 T A 19: 20,617,445 (GRCm39) M459K probably benign Het
Bmal1 C A 7: 112,903,566 (GRCm39) P454Q possibly damaging Het
Camta1 A G 4: 151,232,953 (GRCm39) V240A probably benign Het
Ccdc88b C T 19: 6,834,481 (GRCm39) G149R probably damaging Het
Ceacam5 T C 7: 17,494,602 (GRCm39) V870A probably benign Het
Cep192 A C 18: 67,949,837 (GRCm39) Q307P probably benign Het
Cep63 T C 9: 102,467,755 (GRCm39) probably benign Het
Cldn12 A G 5: 5,558,385 (GRCm39) F14S probably damaging Het
Ctdsp1 G A 1: 74,433,823 (GRCm39) V135I possibly damaging Het
Dcaf10 G A 4: 45,372,769 (GRCm39) R394Q possibly damaging Het
Dchs1 T C 7: 105,404,460 (GRCm39) D2694G probably damaging Het
Dchs1 C G 7: 105,414,759 (GRCm39) G761A probably damaging Het
Dennd5b A G 6: 148,946,277 (GRCm39) Y445H probably damaging Het
Dock1 T A 7: 134,346,743 (GRCm39) L225* probably null Het
Drd3 G T 16: 43,643,164 (GRCm39) E467* probably null Het
Dysf A T 6: 84,074,738 (GRCm39) N527I probably damaging Het
Erbb2 A G 11: 98,315,970 (GRCm39) T358A possibly damaging Het
Fhad1 A T 4: 141,655,689 (GRCm39) probably null Het
Ganc T C 2: 120,265,754 (GRCm39) I434T probably damaging Het
Gm5830 T A 1: 78,945,549 (GRCm39) noncoding transcript Het
Gm6096 G T 7: 33,950,484 (GRCm39) E8* probably null Het
Gne A G 4: 44,066,806 (GRCm39) F63S probably benign Het
Gpat2 T C 2: 127,273,902 (GRCm39) V315A possibly damaging Het
Gpr33 A G 12: 52,070,892 (GRCm39) L49P probably damaging Het
Heatr1 C T 13: 12,439,543 (GRCm39) Q1374* probably null Het
Hivep1 A G 13: 42,316,887 (GRCm39) I2032V probably benign Het
Igkv2-112 A C 6: 68,197,450 (GRCm39) I40L probably benign Het
Kcnab3 A G 11: 69,221,294 (GRCm39) N204D probably benign Het
Kcnj10 T A 1: 172,196,726 (GRCm39) F80Y probably damaging Het
Lcmt2 C G 2: 120,969,911 (GRCm39) V171L probably benign Het
Loxhd1 T A 18: 77,483,153 (GRCm39) Y1245N probably damaging Het
Lrrc7 GAAGTTGTTTGGAGATTCTTATCTTA GA 3: 158,024,045 (GRCm39) probably benign Het
Mast1 A G 8: 85,655,635 (GRCm39) S170P possibly damaging Het
Mroh4 A G 15: 74,487,956 (GRCm39) L322P probably damaging Het
Npdc1 G A 2: 25,298,957 (GRCm39) D284N probably damaging Het
Pah T A 10: 87,390,238 (GRCm39) L25Q probably damaging Het
Pik3cg A T 12: 32,243,596 (GRCm39) probably null Het
Pira13 A C 7: 3,824,547 (GRCm39) S611A probably benign Het
Plekha6 C A 1: 133,211,058 (GRCm39) S625Y probably damaging Het
Rtn4 T A 11: 29,658,362 (GRCm39) S839T probably damaging Het
Rusc1 A G 3: 88,998,736 (GRCm39) S349P possibly damaging Het
Samsn1 A T 16: 75,742,217 (GRCm39) noncoding transcript Het
Scimp A G 11: 70,691,539 (GRCm39) V30A probably damaging Het
Serpinb13 C T 1: 106,910,574 (GRCm39) S66L probably damaging Het
Sgip1 A G 4: 102,823,419 (GRCm39) D680G probably damaging Het
Slc44a2 G A 9: 21,259,691 (GRCm39) V613M probably damaging Het
Smpdl3b T C 4: 132,472,489 (GRCm39) T95A probably damaging Het
Spag6l A T 16: 16,610,395 (GRCm39) L85H probably damaging Het
Sucla2 T A 14: 73,806,429 (GRCm39) Y167N possibly damaging Het
Svop G T 5: 114,203,546 (GRCm39) probably benign Het
Tnxb A T 17: 34,918,041 (GRCm39) D2318V probably damaging Het
Trbv14 A G 6: 41,112,332 (GRCm39) D43G probably benign Het
Ubn2 A G 6: 38,499,240 (GRCm39) probably benign Het
Ufsp1 T C 5: 137,293,569 (GRCm39) I173T probably damaging Het
Zbtb40 A G 4: 136,746,072 (GRCm39) 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
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
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'- CAGCAGCATCGATCTCTACC -3'
(R):5'- GGAAGAGCAATTCCTACCAGC -3'

Sequencing Primer
(F):5'- TACCTCCTGCACTGGGAC -3'
(R):5'- GGAAGAGCAATTCCTACCAGCTTTTG -3'
Posted On 2015-11-11