Incidental Mutation 'IGL01762:Nudcd3'
ID153274
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Nudcd3
Ensembl Gene ENSMUSG00000053838
Gene NameNudC domain containing 3
Synonyms
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.950) question?
Stock #IGL01762
Quality Score
Status
Chromosome11
Chromosomal Location6105691-6200415 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 6150560 bp
ZygosityHeterozygous
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]
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: 43,174,851 L47* probably null Het
Abca13 A T 11: 9,315,423 T3033S probably benign Het
Atp1a2 C A 1: 172,284,913 V503L possibly damaging Het
BC030867 T C 11: 102,255,596 C233R probably benign Het
Cacna1e T A 1: 154,471,373 D770V possibly damaging Het
Camkk1 A G 11: 73,030,801 probably null Het
Cd34 T A 1: 194,939,033 M23K probably benign Het
Cndp1 T A 18: 84,622,286 I265F probably damaging Het
Cux2 A G 5: 121,873,145 I574T probably damaging Het
Fam129a T C 1: 151,636,491 V48A probably damaging Het
Fhdc1 G A 3: 84,444,735 A1061V possibly damaging Het
Galk1 A G 11: 116,010,008 Y236H probably damaging Het
Gbp11 T C 5: 105,327,607 I292V probably benign Het
Gprc5c A G 11: 114,864,024 I176V probably benign Het
Myh6 T C 14: 54,962,081 K258E probably benign Het
Nlrp9c T A 7: 26,385,425 D243V probably damaging Het
Nobox T G 6: 43,303,993 K516Q probably damaging Het
Pde10a T C 17: 8,942,918 I477T possibly damaging Het
Pgbd5 C T 8: 124,370,610 A394T probably damaging Het
Piezo1 G A 8: 122,487,929 R1553* probably null Het
Prkd1 T C 12: 50,387,230 I577V probably benign Het
Prss34 T C 17: 25,299,812 I256T probably benign Het
Ptprg A G 14: 12,037,386 T189A probably benign Het
Ptprr C T 10: 116,236,733 T200I probably damaging Het
Samd8 C T 14: 21,780,100 P198L probably damaging Het
Sema3c T C 5: 17,694,851 L447P possibly damaging Het
Slc22a23 A T 13: 34,204,001 F371I possibly damaging Het
Slc2a2 A G 3: 28,717,472 R184G probably damaging Het
Slitrk6 T A 14: 110,751,624 D217V probably damaging Het
Tlr2 A G 3: 83,836,994 V594A probably benign Het
Vmn2r109 A G 17: 20,554,392 F234L probably benign Het
Vmn2r12 A C 5: 109,086,564 L594R probably damaging Het
Vmn2r124 A G 17: 18,063,172 Q376R possibly damaging Het
Vmn2r7 T C 3: 64,691,435 D567G probably benign Het
Other mutations in Nudcd3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01369:Nudcd3 APN 11 6150551 missense probably damaging 1.00
IGL02818:Nudcd3 APN 11 6150635 splice site probably benign
R4725:Nudcd3 UTSW 11 6193475 missense probably damaging 0.99
R5229:Nudcd3 UTSW 11 6193238 missense probably benign 0.00
R5393:Nudcd3 UTSW 11 6113274 missense probably damaging 1.00
R5770:Nudcd3 UTSW 11 6113286 missense probably damaging 1.00
R7826:Nudcd3 UTSW 11 6150581 missense possibly damaging 0.47
Posted On2014-02-04