Incidental Mutation 'R8177:Nudcd3'
ID 634429
Institutional Source Beutler Lab
Gene Symbol Nudcd3
Ensembl Gene ENSMUSG00000053838
Gene Name NudC domain containing 3
Synonyms
MMRRC Submission 067602-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.952) question?
Stock # R8177 (G1)
Quality Score 225.009
Status Not validated
Chromosome 11
Chromosomal Location 6055705-6150190 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 6143460 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 70 (D70G)
Ref Sequence ENSEMBL: ENSMUSP00000064668 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000066496] [ENSMUST00000135631]
AlphaFold Q8R1N4
Predicted Effect possibly damaging
Transcript: ENSMUST00000066496
AA Change: D70G

PolyPhen 2 Score 0.633 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000064668
Gene: ENSMUSG00000053838
AA Change: D70G

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: D6G

PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000123108
Gene: ENSMUSG00000053838
AA Change: D6G

DomainStartEndE-ValueType
coiled coil region 7 38 N/A INTRINSIC
PDB:1WGV|A 114 176 1e-29 PDB
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.9%
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: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9830107B12Rik A T 17: 48,439,174 (GRCm39) Y127* probably null Het
Abcb5 C T 12: 118,836,525 (GRCm39) V1129I possibly damaging Het
Abcc2 A G 19: 43,795,519 (GRCm39) D425G probably damaging Het
Adamts15 T A 9: 30,833,322 (GRCm39) D71V probably damaging Het
Add1 A G 5: 34,774,049 (GRCm39) H435R possibly damaging Het
Akr1c19 A G 13: 4,292,591 (GRCm39) N204S probably benign Het
Ankub1 C A 3: 57,597,837 (GRCm39) R44S possibly damaging Het
Ano3 T A 2: 110,496,801 (GRCm39) N783Y probably damaging Het
Bbs9 A G 9: 22,425,359 (GRCm39) M138V probably benign Het
Ccdc18 G A 5: 108,345,661 (GRCm39) E936K possibly damaging Het
Cit T G 5: 116,126,218 (GRCm39) L1604V probably benign Het
Col2a1 T A 15: 97,874,654 (GRCm39) S1396C unknown Het
Col3a1 G C 1: 45,374,924 (GRCm39) G653R unknown Het
Col6a1 T C 10: 76,560,863 (GRCm39) E45G probably damaging Het
Col9a3 T A 2: 180,249,450 (GRCm39) F271I probably damaging Het
Cyp2g1 C A 7: 26,518,578 (GRCm39) D364E probably damaging Het
Dmbt1 T A 7: 130,708,162 (GRCm39) V1457D possibly damaging Het
Dnah17 A T 11: 118,019,753 (GRCm39) I98N possibly damaging Het
Dyrk1b T A 7: 27,882,601 (GRCm39) M222K possibly damaging Het
Epha8 T C 4: 136,672,974 (GRCm39) D270G probably benign Het
Fbxw17 T C 13: 50,579,660 (GRCm39) L159P probably damaging Het
Fgl2 G A 5: 21,578,307 (GRCm39) probably null Het
Fmnl1 A T 11: 103,080,785 (GRCm39) M309L probably damaging Het
Fn1 T C 1: 71,648,746 (GRCm39) I1479V probably benign Het
Gm11939 A T 11: 99,450,124 (GRCm39) S57T possibly damaging Het
Gm9195 C T 14: 72,697,977 (GRCm39) A1268T possibly damaging Het
Gnpda1 A G 18: 38,466,348 (GRCm39) W90R possibly damaging Het
Igkv5-43 T A 6: 69,800,445 (GRCm39) R81W probably damaging Het
Mapk3 T A 7: 126,362,937 (GRCm39) W230R probably null Het
Mplkip A G 13: 17,870,205 (GRCm39) S46G probably benign Het
Mrs2 T C 13: 25,188,961 (GRCm39) T118A probably benign Het
Mst1r T A 9: 107,784,784 (GRCm39) H147Q probably damaging Het
Muc5ac G C 7: 141,361,068 (GRCm39) G1460R probably damaging Het
Myorg G T 4: 41,497,568 (GRCm39) Y687* probably null Het
Naip1 T C 13: 100,563,911 (GRCm39) H418R probably benign Het
Ncapg A G 5: 45,851,095 (GRCm39) T763A probably benign Het
Nr6a1 T C 2: 38,619,510 (GRCm39) I462V probably benign Het
Nup210 A G 6: 90,991,470 (GRCm39) S1858P probably benign Het
Or12e13 T A 2: 87,663,512 (GRCm39) I43N probably benign Het
Or5aq1 C A 2: 86,966,294 (GRCm39) V124L possibly damaging Het
Or6a2 G C 7: 106,600,663 (GRCm39) L135V probably damaging Het
Or6c205 A G 10: 129,086,790 (GRCm39) H129R probably benign Het
Or8k33 T A 2: 86,383,623 (GRCm39) I282F noncoding transcript Het
Pde4dip T C 3: 97,674,848 (GRCm39) T23A probably damaging Het
Pex6 A G 17: 47,024,988 (GRCm39) Q347R probably benign Het
Rbm27 A G 18: 42,457,175 (GRCm39) K694R probably damaging Het
Rnf40 T G 7: 127,195,322 (GRCm39) D549E probably benign Het
Rpl22 A G 4: 152,411,968 (GRCm39) K15E probably damaging Het
Rsph6a T A 7: 18,808,164 (GRCm39) D697E unknown Het
Sec23b C T 2: 144,427,543 (GRCm39) P590L probably benign Het
Semp2l1 T C 1: 32,585,457 (GRCm39) E151G probably benign Het
Slc17a7 T A 7: 44,824,356 (GRCm39) M524K probably benign Het
Slc28a1 G A 7: 80,814,164 (GRCm39) D454N probably benign Het
Slc6a13 C T 6: 121,301,987 (GRCm39) R190* probably null Het
Slc7a9 G A 7: 35,155,558 (GRCm39) V257I probably benign Het
Slco1a6 T A 6: 142,047,460 (GRCm39) M377L probably damaging Het
Slit3 A G 11: 35,469,919 (GRCm39) E307G probably damaging Het
Smchd1 A G 17: 71,697,448 (GRCm39) M1164T probably benign Het
Stk4 T C 2: 163,930,777 (GRCm39) I126T probably damaging Het
Syndig1 A T 2: 149,741,788 (GRCm39) S125C probably damaging Het
Synm T C 7: 67,383,813 (GRCm39) D1283G probably benign Het
Tmprss6 T C 15: 78,349,327 (GRCm39) M73V probably benign Het
Tmprss9 A G 10: 80,730,882 (GRCm39) I803V probably benign Het
Tmx4 A T 2: 134,485,822 (GRCm39) V35E probably damaging Het
Topbp1 T G 9: 103,197,740 (GRCm39) S440A probably benign Het
Twf1 T C 15: 94,482,276 (GRCm39) I157V possibly damaging Het
Vmn1r205 T C 13: 22,776,415 (GRCm39) N229S probably benign Het
Vmn1r27 T A 6: 58,192,759 (GRCm39) I82L probably benign Het
Vmn2r112 A G 17: 22,822,594 (GRCm39) N424S possibly damaging Het
Vmn2r68 A T 7: 84,871,422 (GRCm39) Y620* probably null Het
Zfp51 A G 17: 21,684,129 (GRCm39) D248G 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
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
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'- AACTGTTCCTGGAGCTTCCG -3'
(R):5'- GGAAGAGCAATTCCTACCAGC -3'

Sequencing Primer
(F):5'- CCATGGGTCACTGTGTGCTC -3'
(R):5'- GGAAGAGCAATTCCTACCAGCTTTTG -3'
Posted On 2020-07-13