Incidental Mutation 'IGL01762:Nudcd3'
ID 153274
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Nudcd3
Ensembl Gene ENSMUSG00000053838
Gene Name NudC domain containing 3
Synonyms
Accession Numbers
Essential gene? Probably essential (E-score: 0.948) question?
Stock # IGL01762
Quality Score
Status
Chromosome 11
Chromosomal Location 6055705-6150190 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 6100560 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 195 (S195P)
Ref Sequence ENSEMBL: ENSMUSP00000064668 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000066496] [ENSMUST00000135631]
AlphaFold Q8R1N4
Predicted Effect probably damaging
Transcript: ENSMUST00000066496
AA Change: S195P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000064668
Gene: ENSMUSG00000053838
AA Change: S195P

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: S131P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000123108
Gene: ENSMUSG00000053838
AA Change: S131P

DomainStartEndE-ValueType
coiled coil region 7 38 N/A INTRINSIC
PDB:1WGV|A 114 176 1e-29 PDB
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140700
Coding Region Coverage
Validation Efficiency
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: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9030612E09Rik T A 10: 43,050,847 (GRCm39) L47* probably null Het
Abca13 A T 11: 9,265,423 (GRCm39) T3033S probably benign Het
Atp1a2 C A 1: 172,112,480 (GRCm39) V503L possibly damaging Het
Cacna1e T A 1: 154,347,119 (GRCm39) D770V possibly damaging Het
Camkk1 A G 11: 72,921,627 (GRCm39) probably null Het
Cd34 T A 1: 194,621,341 (GRCm39) M23K probably benign Het
Cndp1 T A 18: 84,640,411 (GRCm39) I265F probably damaging Het
Cux2 A G 5: 122,011,208 (GRCm39) I574T probably damaging Het
Fhdc1 G A 3: 84,352,042 (GRCm39) A1061V possibly damaging Het
Galk1 A G 11: 115,900,834 (GRCm39) Y236H probably damaging Het
Gbp11 T C 5: 105,475,473 (GRCm39) I292V probably benign Het
Gprc5c A G 11: 114,754,850 (GRCm39) I176V probably benign Het
Hrob T C 11: 102,146,422 (GRCm39) C233R probably benign Het
Myh6 T C 14: 55,199,538 (GRCm39) K258E probably benign Het
Niban1 T C 1: 151,512,242 (GRCm39) V48A probably damaging Het
Nlrp9c T A 7: 26,084,850 (GRCm39) D243V probably damaging Het
Nobox T G 6: 43,280,927 (GRCm39) K516Q probably damaging Het
Pde10a T C 17: 9,161,750 (GRCm39) I477T possibly damaging Het
Pgbd5 C T 8: 125,097,349 (GRCm39) A394T probably damaging Het
Piezo1 G A 8: 123,214,668 (GRCm39) R1553* probably null Het
Prkd1 T C 12: 50,434,013 (GRCm39) I577V probably benign Het
Prss34 T C 17: 25,518,786 (GRCm39) I256T probably benign Het
Ptprg A G 14: 12,037,386 (GRCm38) T189A probably benign Het
Ptprr C T 10: 116,072,638 (GRCm39) T200I probably damaging Het
Samd8 C T 14: 21,830,168 (GRCm39) P198L probably damaging Het
Sema3c T C 5: 17,899,849 (GRCm39) L447P possibly damaging Het
Slc22a23 A T 13: 34,387,984 (GRCm39) F371I possibly damaging Het
Slc2a2 A G 3: 28,771,621 (GRCm39) R184G probably damaging Het
Slitrk6 T A 14: 110,989,056 (GRCm39) D217V probably damaging Het
Tlr2 A G 3: 83,744,301 (GRCm39) V594A probably benign Het
Vmn2r109 A G 17: 20,774,654 (GRCm39) F234L probably benign Het
Vmn2r12 A C 5: 109,234,430 (GRCm39) L594R probably damaging Het
Vmn2r124 A G 17: 18,283,434 (GRCm39) Q376R possibly damaging Het
Vmn2r7 T C 3: 64,598,856 (GRCm39) D567G probably benign Het
Other mutations in Nudcd3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01369:Nudcd3 APN 11 6,100,551 (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
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
Posted On 2014-02-04