Incidental Mutation 'R5617:Dctn3'
ID 439571
Institutional Source Beutler Lab
Gene Symbol Dctn3
Ensembl Gene ENSMUSG00000028447
Gene Name dynactin 3
Synonyms p24
MMRRC Submission 043276-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.963) question?
Stock # R5617 (G1)
Quality Score 225
Status Validated
Chromosome 4
Chromosomal Location 41714798-41723170 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 41716407 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 134 (I134V)
Ref Sequence ENSEMBL: ENSMUSP00000130988 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030158] [ENSMUST00000038434] [ENSMUST00000108041] [ENSMUST00000171641]
AlphaFold Q9Z0Y1
Predicted Effect probably benign
Transcript: ENSMUST00000030158
AA Change: I134V

PolyPhen 2 Score 0.120 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000030158
Gene: ENSMUSG00000028447
AA Change: I134V

DomainStartEndE-ValueType
Pfam:Dynactin_p22 6 170 2.8e-61 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000038434
SMART Domains Protein: ENSMUSP00000041477
Gene: ENSMUSG00000036114

DomainStartEndE-ValueType
Pfam:Alba 26 90 8.2e-16 PFAM
low complexity region 144 163 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000108041
SMART Domains Protein: ENSMUSP00000103676
Gene: ENSMUSG00000073889

DomainStartEndE-ValueType
signal peptide 1 22 N/A INTRINSIC
IG 33 108 5.75e-4 SMART
FN3 112 204 2.18e-2 SMART
FN3 218 304 4.93e-1 SMART
low complexity region 354 365 N/A INTRINSIC
transmembrane domain 369 391 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147120
Predicted Effect possibly damaging
Transcript: ENSMUST00000171641
AA Change: I134V

PolyPhen 2 Score 0.700 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000130988
Gene: ENSMUSG00000028447
AA Change: I134V

DomainStartEndE-ValueType
Pfam:Dynactin_p22 1 149 1.4e-63 PFAM
Meta Mutation Damage Score 0.2599 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.6%
Validation Efficiency 100% (59/59)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes the smallest subunit of dynactin, a macromolecular complex consisting of 10 subunits ranging in size from 22 to 150 kD. Dynactin binds to both microtubules and cytoplasmic dynein. It is involved in a diverse array of cellular functions, including ER-to-Golgi transport, the centripetal movement of lysosomes and endosomes, spindle formation, cytokinesis, chromosome movement, nuclear positioning, and axonogenesis. This subunit, like most other dynactin subunits, exists only as a part of the dynactin complex. It is primarily an alpha-helical protein with very little coiled coil, and binds directly to the largest subunit (p150) of dynactin. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]
Allele List at MGI
Other mutations in this stock
Total: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 C T 11: 9,227,891 (GRCm39) L645F probably benign Het
Acss3 T C 10: 106,787,851 (GRCm39) Y522C probably damaging Het
Asb18 A G 1: 89,882,184 (GRCm39) V118A possibly damaging Het
Aste1 T A 9: 105,275,034 (GRCm39) C8S probably benign Het
Atp10a A G 7: 58,453,423 (GRCm39) S834G probably benign Het
Cdh18 A G 15: 23,226,854 (GRCm39) D105G probably damaging Het
Cenpb T C 2: 131,020,934 (GRCm39) E288G probably damaging Het
Clcnka C T 4: 141,116,628 (GRCm39) G541D probably null Het
Dennd4b T C 3: 90,182,933 (GRCm39) S917P probably benign Het
Fam135b A T 15: 71,493,865 (GRCm39) D21E probably damaging Het
Fam174a T C 1: 95,241,972 (GRCm39) V144A probably damaging Het
Fbxo38 A G 18: 62,639,042 (GRCm39) Y1087H probably damaging Het
Gm7275 A T 16: 47,894,527 (GRCm39) noncoding transcript Het
Gm9271 G T 7: 39,013,076 (GRCm39) noncoding transcript Het
Grm2 T C 9: 106,528,275 (GRCm39) probably null Het
Htt T A 5: 35,028,150 (GRCm39) V1802D possibly damaging Het
Ighv1-75 C A 12: 115,797,874 (GRCm39) G16V probably benign Het
Krt78 G A 15: 101,856,044 (GRCm39) T589I probably damaging Het
Lama3 T C 18: 12,631,993 (GRCm39) probably benign Het
Lbr A T 1: 181,656,467 (GRCm39) V227D probably benign Het
Lsamp T C 16: 41,954,786 (GRCm39) V211A probably damaging Het
Map3k19 G A 1: 127,750,703 (GRCm39) R883C probably damaging Het
Marchf8 A C 6: 116,380,481 (GRCm39) I111L possibly damaging Het
Mrps10 T A 17: 47,689,167 (GRCm39) M187K probably benign Het
Ncdn G A 4: 126,638,840 (GRCm39) R660C probably damaging Het
Notum A T 11: 120,547,171 (GRCm39) Y332* probably null Het
Nr1h5 A T 3: 102,855,145 (GRCm39) L319I probably damaging Het
Or51q1 A T 7: 103,628,921 (GRCm39) H180L possibly damaging Het
Or8k35 T A 2: 86,424,345 (GRCm39) I276L probably benign Het
Osbpl5 T C 7: 143,246,684 (GRCm39) D765G possibly damaging Het
Parp3 C T 9: 106,351,704 (GRCm39) V170M possibly damaging Het
Pcdh15 A G 10: 74,471,504 (GRCm39) probably benign Het
Pcdha9 T G 18: 37,131,869 (GRCm39) S313A probably benign Het
Pfkm A G 15: 98,020,107 (GRCm39) R201G possibly damaging Het
Pgm5 G A 19: 24,727,765 (GRCm39) R375* probably null Het
Phactr2 A G 10: 13,349,809 (GRCm39) S72P possibly damaging Het
Plaat1 A T 16: 29,039,162 (GRCm39) R81* probably null Het
Plec A G 15: 76,058,732 (GRCm39) L3600P probably damaging Het
Pou6f1 G A 15: 100,483,874 (GRCm39) T208M possibly damaging Het
Rabep1 C T 11: 70,808,355 (GRCm39) S394L probably damaging Het
Ranbp2 T G 10: 58,301,489 (GRCm39) F687C probably damaging Het
Ranbp6 A G 19: 29,789,863 (GRCm39) F163S probably damaging Het
Rcor3 T C 1: 191,804,430 (GRCm39) N240D probably benign Het
Samd13 C A 3: 146,352,065 (GRCm39) K95N probably benign Het
Slc25a17 G T 15: 81,244,975 (GRCm39) probably benign Het
Slfn8 G T 11: 82,895,547 (GRCm39) H420N probably benign Het
Sptbn5 G A 2: 119,876,965 (GRCm39) probably benign Het
Stim2 G A 5: 54,267,075 (GRCm39) E21K probably damaging Het
Tmem163 A G 1: 127,479,067 (GRCm39) Y151H possibly damaging Het
Trio A G 15: 27,902,834 (GRCm39) I209T probably benign Het
Tubal3 T A 13: 3,983,432 (GRCm39) L404H probably damaging Het
Ubqln3 A G 7: 103,791,640 (GRCm39) F150S probably damaging Het
Ubr5 T C 15: 38,030,901 (GRCm39) S425G possibly damaging Het
Vmn2r52 T A 7: 9,904,861 (GRCm39) H326L probably damaging Het
Other mutations in Dctn3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01462:Dctn3 APN 4 41,719,854 (GRCm39) nonsense probably null
IGL03000:Dctn3 APN 4 41,719,912 (GRCm39) missense possibly damaging 0.94
R1687:Dctn3 UTSW 4 41,715,407 (GRCm39) missense probably damaging 1.00
R1835:Dctn3 UTSW 4 41,720,813 (GRCm39) missense probably damaging 1.00
R2164:Dctn3 UTSW 4 41,723,065 (GRCm39) nonsense probably null
R3427:Dctn3 UTSW 4 41,719,858 (GRCm39) missense probably damaging 1.00
R4801:Dctn3 UTSW 4 41,719,904 (GRCm39) nonsense probably null
R4802:Dctn3 UTSW 4 41,719,904 (GRCm39) nonsense probably null
R5979:Dctn3 UTSW 4 41,715,393 (GRCm39) splice site probably null
R6545:Dctn3 UTSW 4 41,723,084 (GRCm39) missense probably damaging 0.97
R6819:Dctn3 UTSW 4 41,715,259 (GRCm39) missense possibly damaging 0.79
R8951:Dctn3 UTSW 4 41,719,845 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- ACCAAAGGTCTAGGACTCTTGG -3'
(R):5'- AAGCCTGGCGTTTGTTTAGC -3'

Sequencing Primer
(F):5'- TGACAGTGGGCCATGGG -3'
(R):5'- GGCGTTTGTTTAGCTTCTCTAC -3'
Posted On 2016-11-08