Incidental Mutation 'R0044:Dctn1'
ID 32876
Institutional Source Beutler Lab
Gene Symbol Dctn1
Ensembl Gene ENSMUSG00000031865
Gene Name dynactin 1
Synonyms p150, Glued, p150
MMRRC Submission 038338-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0044 (G1)
Quality Score 176
Status Validated (trace)
Chromosome 6
Chromosomal Location 83142902-83177099 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 83168116 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Aspartic acid at position 386 (Y386D)
Ref Sequence ENSEMBL: ENSMUSP00000109540 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000077407] [ENSMUST00000113907] [ENSMUST00000113913] [ENSMUST00000113918] [ENSMUST00000113919] [ENSMUST00000141680] [ENSMUST00000130212]
AlphaFold O08788
Predicted Effect probably damaging
Transcript: ENSMUST00000077407
AA Change: Y483D

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000076623
Gene: ENSMUSG00000031865
AA Change: Y483D

DomainStartEndE-ValueType
CAP_GLY 12 78 5.52e-31 SMART
low complexity region 124 147 N/A INTRINSIC
low complexity region 148 177 N/A INTRINSIC
SCOP:d1fxkc_ 185 337 3e-3 SMART
low complexity region 363 379 N/A INTRINSIC
Pfam:Dynactin 489 768 8.2e-91 PFAM
low complexity region 800 820 N/A INTRINSIC
coiled coil region 914 1009 N/A INTRINSIC
low complexity region 1025 1043 N/A INTRINSIC
coiled coil region 1143 1172 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000113907
AA Change: Y386D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000109540
Gene: ENSMUSG00000031865
AA Change: Y386D

DomainStartEndE-ValueType
low complexity region 5 22 N/A INTRINSIC
low complexity region 27 50 N/A INTRINSIC
low complexity region 51 80 N/A INTRINSIC
low complexity region 93 106 N/A INTRINSIC
low complexity region 140 158 N/A INTRINSIC
SCOP:d1lxa__ 271 345 8e-3 SMART
Pfam:Dynactin 392 671 7.1e-91 PFAM
low complexity region 703 723 N/A INTRINSIC
coiled coil region 817 912 N/A INTRINSIC
low complexity region 928 946 N/A INTRINSIC
coiled coil region 1046 1075 N/A INTRINSIC
Predicted Effect unknown
Transcript: ENSMUST00000113913
AA Change: Y503D
SMART Domains Protein: ENSMUSP00000109546
Gene: ENSMUSG00000031865
AA Change: Y503D

DomainStartEndE-ValueType
CAP_GLY 12 78 5.52e-31 SMART
low complexity region 118 139 N/A INTRINSIC
low complexity region 144 167 N/A INTRINSIC
low complexity region 168 197 N/A INTRINSIC
SCOP:d1fxkc_ 205 357 3e-3 SMART
low complexity region 383 399 N/A INTRINSIC
Pfam:Dynactin 509 788 2.5e-90 PFAM
low complexity region 820 840 N/A INTRINSIC
coiled coil region 934 1029 N/A INTRINSIC
low complexity region 1051 1069 N/A INTRINSIC
coiled coil region 1168 1197 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000113918
AA Change: Y520D

PolyPhen 2 Score 0.861 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000109551
Gene: ENSMUSG00000031865
AA Change: Y520D

DomainStartEndE-ValueType
CAP_GLY 29 95 5.52e-31 SMART
low complexity region 135 156 N/A INTRINSIC
low complexity region 161 184 N/A INTRINSIC
low complexity region 185 214 N/A INTRINSIC
low complexity region 227 240 N/A INTRINSIC
low complexity region 274 292 N/A INTRINSIC
low complexity region 400 416 N/A INTRINSIC
Pfam:Dynactin 526 805 3.3e-90 PFAM
low complexity region 837 857 N/A INTRINSIC
coiled coil region 951 1046 N/A INTRINSIC
coiled coil region 1147 1176 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000113919
AA Change: Y520D

PolyPhen 2 Score 0.861 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000109552
Gene: ENSMUSG00000031865
AA Change: Y520D

DomainStartEndE-ValueType
CAP_GLY 29 95 5.52e-31 SMART
low complexity region 135 156 N/A INTRINSIC
low complexity region 161 184 N/A INTRINSIC
low complexity region 185 214 N/A INTRINSIC
SCOP:d1fxkc_ 222 374 3e-3 SMART
low complexity region 400 416 N/A INTRINSIC
Pfam:Dynactin 522 805 1.4e-103 PFAM
low complexity region 837 857 N/A INTRINSIC
coiled coil region 951 1046 N/A INTRINSIC
low complexity region 1068 1086 N/A INTRINSIC
coiled coil region 1185 1214 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000123313
Predicted Effect noncoding transcript
Transcript: ENSMUST00000127824
Predicted Effect noncoding transcript
Transcript: ENSMUST00000130917
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154420
Predicted Effect probably benign
Transcript: ENSMUST00000141680
SMART Domains Protein: ENSMUSP00000121538
Gene: ENSMUSG00000031865

DomainStartEndE-ValueType
CAP_GLY 12 78 5.52e-31 SMART
low complexity region 118 139 N/A INTRINSIC
low complexity region 144 159 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000130212
SMART Domains Protein: ENSMUSP00000115838
Gene: ENSMUSG00000031865

DomainStartEndE-ValueType
CAP_GLY 12 78 5.52e-31 SMART
low complexity region 124 147 N/A INTRINSIC
low complexity region 148 177 N/A INTRINSIC
Meta Mutation Damage Score 0.4587 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.4%
  • 10x: 96.6%
  • 20x: 93.6%
Validation Efficiency 100% (77/77)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes the largest 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. Dynactin is involved in a diverse array of cellular functions, including ER-to-Golgi transport, the centripetal movement of lysosomes and endosomes, spindle formation, chromosome movement, nuclear positioning, and axonogenesis. This subunit interacts with dynein intermediate chain by its domains directly binding to dynein and binds to microtubules via a highly conserved glycine-rich cytoskeleton-associated protein (CAP-Gly) domain in its N-terminus. Alternative splicing of this gene results in multiple transcript variants encoding distinct isoforms. Mutations in this gene cause distal hereditary motor neuronopathy type VIIB (HMN7B) which is also known as distal spinal and bulbar muscular atrophy (dSBMA). [provided by RefSeq, Oct 2008]
PHENOTYPE: Mice homozygous for a null allele exhibit embryonic lethality and developmental arrest at E7.5 associated with increased apoptosis. [provided by MGI curators]
Allele List at MGI

All alleles(20) : Targeted(4) Gene trapped(16)

Other mutations in this stock
Total: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
6430571L13Rik A C 9: 107,219,698 (GRCm39) R50S probably damaging Het
Actn2 G T 13: 12,290,013 (GRCm39) T176N possibly damaging Het
Adamts7 T C 9: 90,053,641 (GRCm39) V62A possibly damaging Het
Adcy2 A G 13: 68,876,018 (GRCm39) S495P possibly damaging Het
Agbl3 A T 6: 34,776,834 (GRCm39) M447L probably damaging Het
Asxl1 C T 2: 153,242,129 (GRCm39) T893I probably benign Het
Atp11b T A 3: 35,866,401 (GRCm39) I400N probably damaging Het
Bpifb2 C T 2: 153,724,599 (GRCm39) probably benign Het
Capn1 T A 19: 6,064,373 (GRCm39) Y42F probably benign Het
Cdk5rap2 A T 4: 70,279,138 (GRCm39) L190H probably damaging Het
Cfap54 T C 10: 92,871,295 (GRCm39) I594V probably null Het
Cpsf1 A G 15: 76,483,753 (GRCm39) V830A probably benign Het
Cyp2c70 T A 19: 40,153,815 (GRCm39) N258I possibly damaging Het
Degs2 T C 12: 108,658,413 (GRCm39) N189D probably damaging Het
Dido1 C T 2: 180,303,612 (GRCm39) A1431T probably damaging Het
Diras1 G T 10: 80,857,972 (GRCm39) S93* probably null Het
E130308A19Rik T A 4: 59,690,290 (GRCm39) H41Q possibly damaging Het
Ebf2 C T 14: 67,548,417 (GRCm39) probably benign Het
Fcho2 A G 13: 98,892,052 (GRCm39) probably benign Het
Gbe1 T A 16: 70,358,020 (GRCm39) Y681* probably null Het
Gm10036 A C 18: 15,965,873 (GRCm39) K8T probably benign Het
Herc1 T A 9: 66,355,457 (GRCm39) M2236K probably benign Het
Hmcn2 A T 2: 31,302,520 (GRCm39) Y2948F probably damaging Het
Jakmip2 A T 18: 43,715,170 (GRCm39) C119S probably benign Het
Kif1b A G 4: 149,348,058 (GRCm39) probably benign Het
Kif6 T C 17: 50,139,284 (GRCm39) probably benign Het
Lpin1 A T 12: 16,618,530 (GRCm39) probably benign Het
Lrp2 T C 2: 69,357,899 (GRCm39) I377V probably benign Het
Mavs C A 2: 131,083,944 (GRCm39) T147N probably damaging Het
Mcoln2 C T 3: 145,889,316 (GRCm39) T374M probably damaging Het
Mreg T G 1: 72,201,534 (GRCm39) T153P probably damaging Het
Naglu T C 11: 100,962,043 (GRCm39) I172T probably damaging Het
Odad4 A T 11: 100,457,827 (GRCm39) I477F probably damaging Het
Ogdhl T C 14: 32,061,285 (GRCm39) V492A possibly damaging Het
Or4a72 A G 2: 89,405,974 (GRCm39) I32T possibly damaging Het
Parvg A G 15: 84,222,083 (GRCm39) E323G probably benign Het
Pgap1 A G 1: 54,532,527 (GRCm39) L664S probably damaging Het
Pgm2l1 A G 7: 99,899,539 (GRCm39) N51S probably benign Het
Pik3r6 A G 11: 68,435,576 (GRCm39) T609A probably benign Het
Plcb4 T A 2: 135,813,776 (GRCm39) V705E probably damaging Het
Plppr5 T A 3: 117,465,538 (GRCm39) probably null Het
Prkg2 C A 5: 99,120,989 (GRCm39) D411Y probably damaging Het
Ptprd A G 4: 76,004,566 (GRCm39) V63A probably benign Het
Ptprz1 T A 6: 23,007,402 (GRCm39) I1655N probably damaging Het
Raf1 T A 6: 115,600,476 (GRCm39) D10V probably benign Het
Rexo1 T A 10: 80,380,212 (GRCm39) Q928L probably benign Het
Rpl7l1 A C 17: 47,089,456 (GRCm39) probably null Het
Rrm2b A G 15: 37,953,932 (GRCm39) S39P possibly damaging Het
Scn5a A G 9: 119,321,113 (GRCm39) probably null Het
Sgtb A G 13: 104,265,768 (GRCm39) T93A probably benign Het
Sigirr G T 7: 140,672,226 (GRCm39) probably null Het
Slc16a7 T C 10: 125,063,951 (GRCm39) D462G probably benign Het
Slc25a30 C T 14: 76,007,089 (GRCm39) A85T probably benign Het
Spata24 A G 18: 35,789,887 (GRCm39) S167P probably damaging Het
Spock3 C T 8: 63,597,041 (GRCm39) T115I possibly damaging Het
Srgap2 A G 1: 131,247,289 (GRCm39) I581T possibly damaging Het
Syn2 A T 6: 115,112,108 (GRCm39) M23L unknown Het
Synrg G A 11: 83,900,007 (GRCm39) V839I probably damaging Het
Tmtc1 A G 6: 148,314,327 (GRCm39) probably benign Het
Tnfaip3 C A 10: 18,887,374 (GRCm39) M50I probably damaging Het
Topbp1 T A 9: 103,202,972 (GRCm39) I721N possibly damaging Het
Ttc22 T G 4: 106,494,003 (GRCm39) V321G probably benign Het
Ubr2 A G 17: 47,303,911 (GRCm39) probably benign Het
Ubr4 T C 4: 139,164,369 (GRCm39) probably benign Het
Usp24 T C 4: 106,269,281 (GRCm39) probably benign Het
Vmn2r100 A T 17: 19,742,441 (GRCm39) I272L possibly damaging Het
Vrtn T A 12: 84,695,379 (GRCm39) L43H probably damaging Het
Wnk1 G T 6: 120,014,110 (GRCm39) R162S probably damaging Het
Xkr9 G A 1: 13,754,286 (GRCm39) W93* probably null Het
Zfp804b G T 5: 6,819,655 (GRCm39) P1136H probably damaging Het
Other mutations in Dctn1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01113:Dctn1 APN 6 83,156,879 (GRCm39) missense probably benign 0.00
IGL01450:Dctn1 APN 6 83,171,092 (GRCm39) unclassified probably benign
IGL01876:Dctn1 APN 6 83,174,903 (GRCm39) missense probably damaging 1.00
IGL01958:Dctn1 APN 6 83,168,326 (GRCm39) missense possibly damaging 0.95
IGL02554:Dctn1 APN 6 83,159,704 (GRCm39) missense probably damaging 1.00
IGL02668:Dctn1 APN 6 83,168,030 (GRCm39) missense possibly damaging 0.89
IGL02814:Dctn1 APN 6 83,166,896 (GRCm39) missense probably damaging 1.00
IGL02818:Dctn1 APN 6 83,169,496 (GRCm39) missense possibly damaging 0.86
IGL03007:Dctn1 APN 6 83,159,690 (GRCm39) missense probably damaging 1.00
IGL03065:Dctn1 APN 6 83,169,475 (GRCm39) missense probably damaging 0.99
IGL03083:Dctn1 APN 6 83,174,466 (GRCm39) splice site probably benign
IGL03394:Dctn1 APN 6 83,168,266 (GRCm39) missense possibly damaging 0.61
E0374:Dctn1 UTSW 6 83,171,156 (GRCm39) missense possibly damaging 0.93
IGL03014:Dctn1 UTSW 6 83,174,351 (GRCm39) intron probably benign
PIT4812001:Dctn1 UTSW 6 83,176,744 (GRCm39) missense possibly damaging 0.86
R0047:Dctn1 UTSW 6 83,159,614 (GRCm39) nonsense probably null
R0047:Dctn1 UTSW 6 83,159,614 (GRCm39) nonsense probably null
R0057:Dctn1 UTSW 6 83,156,874 (GRCm39) missense probably benign 0.14
R0731:Dctn1 UTSW 6 83,160,071 (GRCm39) missense probably damaging 0.98
R0738:Dctn1 UTSW 6 83,167,089 (GRCm39) critical splice donor site probably null
R0755:Dctn1 UTSW 6 83,166,059 (GRCm39) missense probably damaging 0.96
R0839:Dctn1 UTSW 6 83,167,459 (GRCm39) missense possibly damaging 0.53
R1035:Dctn1 UTSW 6 83,167,202 (GRCm39) missense probably damaging 1.00
R1454:Dctn1 UTSW 6 83,174,490 (GRCm39) missense possibly damaging 0.93
R1469:Dctn1 UTSW 6 83,169,871 (GRCm39) missense probably damaging 1.00
R1469:Dctn1 UTSW 6 83,169,871 (GRCm39) missense probably damaging 1.00
R1627:Dctn1 UTSW 6 83,172,064 (GRCm39) missense probably damaging 0.99
R1631:Dctn1 UTSW 6 83,174,578 (GRCm39) missense possibly damaging 0.56
R1812:Dctn1 UTSW 6 83,169,500 (GRCm39) missense possibly damaging 0.85
R1928:Dctn1 UTSW 6 83,176,166 (GRCm39) splice site probably benign
R2008:Dctn1 UTSW 6 83,166,938 (GRCm39) missense probably damaging 0.99
R2242:Dctn1 UTSW 6 83,176,687 (GRCm39) missense probably damaging 0.99
R2259:Dctn1 UTSW 6 83,174,568 (GRCm39) missense possibly damaging 0.46
R2422:Dctn1 UTSW 6 83,176,782 (GRCm39) missense possibly damaging 0.92
R2483:Dctn1 UTSW 6 83,171,169 (GRCm39) missense probably damaging 1.00
R4455:Dctn1 UTSW 6 83,172,031 (GRCm39) missense probably damaging 1.00
R4724:Dctn1 UTSW 6 83,166,920 (GRCm39) missense possibly damaging 0.53
R4812:Dctn1 UTSW 6 83,166,919 (GRCm39) missense probably benign 0.24
R4819:Dctn1 UTSW 6 83,167,501 (GRCm39) missense probably damaging 0.97
R4831:Dctn1 UTSW 6 83,176,753 (GRCm39) missense possibly damaging 0.46
R4928:Dctn1 UTSW 6 83,166,189 (GRCm39) missense possibly damaging 0.73
R5087:Dctn1 UTSW 6 83,168,621 (GRCm39) missense probably damaging 1.00
R5354:Dctn1 UTSW 6 83,160,108 (GRCm39) missense possibly damaging 0.93
R5372:Dctn1 UTSW 6 83,167,192 (GRCm39) missense probably damaging 0.96
R5493:Dctn1 UTSW 6 83,159,546 (GRCm39) missense possibly damaging 0.89
R5494:Dctn1 UTSW 6 83,159,546 (GRCm39) missense possibly damaging 0.89
R5732:Dctn1 UTSW 6 83,174,931 (GRCm39) critical splice donor site probably null
R5856:Dctn1 UTSW 6 83,174,847 (GRCm39) missense probably damaging 1.00
R6025:Dctn1 UTSW 6 83,170,673 (GRCm39) splice site probably null
R6999:Dctn1 UTSW 6 83,168,263 (GRCm39) missense possibly damaging 0.89
R7052:Dctn1 UTSW 6 83,172,262 (GRCm39) splice site probably null
R7133:Dctn1 UTSW 6 83,157,026 (GRCm39) splice site probably null
R7485:Dctn1 UTSW 6 83,166,887 (GRCm39) missense possibly damaging 0.85
R7607:Dctn1 UTSW 6 83,172,051 (GRCm39) nonsense probably null
R7729:Dctn1 UTSW 6 83,160,042 (GRCm39) missense probably damaging 1.00
R7749:Dctn1 UTSW 6 83,163,123 (GRCm39) intron probably benign
R8282:Dctn1 UTSW 6 83,176,738 (GRCm39) missense possibly damaging 0.91
R8750:Dctn1 UTSW 6 83,160,108 (GRCm39) missense possibly damaging 0.93
R9126:Dctn1 UTSW 6 83,169,835 (GRCm39) missense probably damaging 0.99
R9208:Dctn1 UTSW 6 83,176,684 (GRCm39) missense probably benign 0.33
R9422:Dctn1 UTSW 6 83,170,691 (GRCm39) missense possibly damaging 0.71
Predicted Primers PCR Primer
(F):5'- TGTGCCATCCAGGAAGCCATGAAC -3'
(R):5'- GCATGAGCCTTGGTCTCAGCAAAC -3'

Sequencing Primer
(F):5'- CGAGATGAACGATGAGCTGC -3'
(R):5'- ATCAAAAGTCTCTGGCGGC -3'
Posted On 2013-05-09