Incidental Mutation 'R7485:Dctn1'
ID 580062
Institutional Source Beutler Lab
Gene Symbol Dctn1
Ensembl Gene ENSMUSG00000031865
Gene Name dynactin 1
Synonyms p150, Glued, p150
MMRRC Submission 045559-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7485 (G1)
Quality Score 225.009
Status Validated
Chromosome 6
Chromosomal Location 83142902-83177099 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 83166887 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Valine at position 283 (A283V)
Ref Sequence ENSEMBL: ENSMUSP00000109552 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000077407] [ENSMUST00000113907] [ENSMUST00000113913] [ENSMUST00000113918] [ENSMUST00000113919] [ENSMUST00000130212] [ENSMUST00000141680]
AlphaFold O08788
Predicted Effect probably damaging
Transcript: ENSMUST00000077407
AA Change: A246V

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000076623
Gene: ENSMUSG00000031865
AA Change: A246V

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: A149V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000109540
Gene: ENSMUSG00000031865
AA Change: A149V

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 possibly damaging
Transcript: ENSMUST00000113913
AA Change: A266V

PolyPhen 2 Score 0.845 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000109546
Gene: ENSMUSG00000031865
AA Change: A266V

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: A283V

PolyPhen 2 Score 0.904 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000109551
Gene: ENSMUSG00000031865
AA Change: A283V

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: A283V

PolyPhen 2 Score 0.845 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000109552
Gene: ENSMUSG00000031865
AA Change: A283V

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 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
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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 99% (99/100)
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: 100 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adat3 C T 10: 80,442,234 (GRCm39) A24V probably benign Het
Agbl1 A T 7: 76,239,241 (GRCm39) E832D unknown Het
Akap8l G A 17: 32,554,545 (GRCm39) S347L probably benign Het
Ankmy1 G T 1: 92,804,379 (GRCm39) A868E probably damaging Het
Ankrd49 A T 9: 14,693,837 (GRCm39) L110* probably null Het
Aoc3 A G 11: 101,228,229 (GRCm39) T679A probably damaging Het
Ap1s3 A G 1: 79,592,018 (GRCm39) Y111H probably damaging Het
Arnt T A 3: 95,402,659 (GRCm39) N777K probably damaging Het
Atp4b A T 8: 13,436,732 (GRCm39) M260K probably benign Het
Bcl2l15 A T 3: 103,740,729 (GRCm39) D65V probably damaging Het
Bicdl1 G T 5: 115,801,845 (GRCm39) S340* probably null Het
Ccdc15 T C 9: 37,226,574 (GRCm39) R467G probably benign Het
Ccdc68 T A 18: 70,102,084 (GRCm39) M327K possibly damaging Het
Ccdc83 T C 7: 89,873,138 (GRCm39) T406A probably benign Het
Ccnf A T 17: 24,468,232 (GRCm39) V55D probably damaging Het
Cdcp3 C A 7: 130,830,562 (GRCm39) P332Q probably damaging Het
Cldn12 A G 5: 5,558,008 (GRCm39) F140L probably benign Het
Copb1 A C 7: 113,844,720 (GRCm39) I213S possibly damaging Het
Cps1 G A 1: 67,179,016 (GRCm39) G76D probably damaging Het
Ctrc A G 4: 141,567,627 (GRCm39) W159R probably damaging Het
Cul4a C T 8: 13,190,279 (GRCm39) T572M possibly damaging Het
Cyp2c40 A T 19: 39,796,050 (GRCm39) Y109* probably null Het
Dcc A G 18: 71,553,317 (GRCm39) Y780H probably benign Het
Dio1 T C 4: 107,154,874 (GRCm39) D134G probably benign Het
Dlg5 A T 14: 24,227,907 (GRCm39) L338Q probably damaging Het
Dlg5 A T 14: 24,198,390 (GRCm39) D1514E probably benign Het
Dlgap2 A T 8: 14,879,952 (GRCm39) K767N probably damaging Het
Dst A T 1: 34,313,270 (GRCm39) I4346F probably benign Het
Dzip1l T C 9: 99,543,065 (GRCm39) F507L probably benign Het
Erich2 A T 2: 70,362,109 (GRCm39) D300V probably damaging Het
Fam114a2 C T 11: 57,404,515 (GRCm39) G83D probably damaging Het
Fam131a C T 16: 20,520,444 (GRCm39) A299V probably benign Het
Fbln2 A G 6: 91,247,143 (GRCm39) probably null Het
Fbn2 T C 18: 58,204,912 (GRCm39) D1177G possibly damaging Het
Fbxl6 T C 15: 76,422,113 (GRCm39) probably null Het
Frem3 A T 8: 81,339,965 (GRCm39) I753F probably damaging Het
Gfra1 A G 19: 58,288,744 (GRCm39) S234P probably damaging Het
Gtse1 T A 15: 85,752,901 (GRCm39) S339T probably benign Het
Hdgfl3 T C 7: 81,550,106 (GRCm39) N76S probably benign Het
Herc6 A G 6: 57,558,089 (GRCm39) E23G probably benign Het
Hid1 T A 11: 115,245,545 (GRCm39) H420L probably damaging Het
Igsf21 G A 4: 139,755,049 (GRCm39) T440I probably benign Het
Ikzf4 T A 10: 128,468,451 (GRCm39) H676L unknown Het
Il18r1 A G 1: 40,520,140 (GRCm39) E177G probably benign Het
Iqch A G 9: 63,415,599 (GRCm39) Y558H possibly damaging Het
Kif11 A T 19: 37,399,072 (GRCm39) N752I possibly damaging Het
Kntc1 T A 5: 123,925,019 (GRCm39) C1111S possibly damaging Het
Krtap9-5 A G 11: 99,839,800 (GRCm39) K167R unknown Het
Lgalsl2 C T 7: 5,362,440 (GRCm39) R24C probably benign Het
Lipe G T 7: 25,080,036 (GRCm39) T704K probably benign Het
Lrrc32 A T 7: 98,147,414 (GRCm39) I65F possibly damaging Het
Mogs C T 6: 83,093,188 (GRCm39) H179Y probably damaging Het
Mtnr1b A T 9: 15,774,590 (GRCm39) Y156* probably null Het
Mtus1 T C 8: 41,537,590 (GRCm39) H42R probably benign Het
Mx2 T A 16: 97,346,918 (GRCm39) D128E probably benign Het
Myof A T 19: 37,939,939 (GRCm39) L829* probably null Het
Naip6 T C 13: 100,420,359 (GRCm39) K1304E probably benign Het
Neo1 A C 9: 58,791,826 (GRCm39) S1307R probably benign Het
Nipbl A T 15: 8,359,779 (GRCm39) D1475E probably benign Het
Nlrp9b T A 7: 19,757,875 (GRCm39) F371I probably damaging Het
Nrip1 A T 16: 76,088,338 (GRCm39) M1073K probably damaging Het
Obox6 T C 7: 15,567,863 (GRCm39) N195D probably damaging Het
Or13a18 T A 7: 140,190,091 (GRCm39) I4K probably benign Het
Or1j18 T A 2: 36,624,650 (GRCm39) F106I probably benign Het
Or5ac24 A T 16: 59,165,687 (GRCm39) C126S probably damaging Het
Or5b99 C T 19: 12,976,922 (GRCm39) H191Y probably benign Het
Or5p64 C A 7: 107,855,045 (GRCm39) C100F probably damaging Het
Pax7 T C 4: 139,511,880 (GRCm39) K232E probably benign Het
Phldb3 C T 7: 24,310,689 (GRCm39) probably benign Het
Pkd1l1 C A 11: 8,915,148 (GRCm39) V131L Het
Ppp2r5a A G 1: 191,128,532 (GRCm39) S28P probably benign Het
Prl8a1 A G 13: 27,758,068 (GRCm39) S214P probably damaging Het
Prmt2 A T 10: 76,056,838 (GRCm39) C228* probably null Het
Prpf8 C T 11: 75,399,738 (GRCm39) R2266* probably null Het
Rabl6 A G 2: 25,474,153 (GRCm39) S648P unknown Het
Ralgapa1 T C 12: 55,759,457 (GRCm39) K1022R probably damaging Het
Ralgapb T A 2: 158,285,275 (GRCm39) D591E probably benign Het
Rprd1a A G 18: 24,639,889 (GRCm39) probably null Het
Rsu1 T C 2: 13,221,686 (GRCm39) R165G probably damaging Het
Samd8 A G 14: 21,842,491 (GRCm39) E334G probably benign Het
Scn9a T A 2: 66,364,561 (GRCm39) Q804L probably damaging Het
Sez6 A G 11: 77,864,711 (GRCm39) D557G probably benign Het
Sgsm1 A T 5: 113,427,501 (GRCm39) probably null Het
Slc17a3 T A 13: 24,039,832 (GRCm39) M290K Het
Snd1 T A 6: 28,531,449 (GRCm39) V330E probably benign Het
Tceanc2 T C 4: 107,022,852 (GRCm39) K45R probably damaging Het
Tg A T 15: 66,568,437 (GRCm39) I1375F probably benign Het
Tmem116 T A 5: 121,633,124 (GRCm39) I357K Het
Tmem39a G T 16: 38,408,658 (GRCm39) R407L possibly damaging Het
Tmem74 A T 15: 43,730,761 (GRCm39) M94K probably benign Het
Tpp1 C T 7: 105,398,751 (GRCm39) C226Y probably damaging Het
Trbv21 T C 6: 41,179,861 (GRCm39) I59T not run Het
Trim11 A G 11: 58,869,463 (GRCm39) D133G probably benign Het
Uaca G A 9: 60,753,282 (GRCm39) V76I probably damaging Het
Ugt2a3 A G 5: 87,475,539 (GRCm39) probably null Het
Vmn2r104 G T 17: 20,249,737 (GRCm39) H845N probably benign Het
Wdr24 T C 17: 26,045,101 (GRCm39) Y279H probably damaging Het
Zbtb46 A G 2: 181,065,512 (GRCm39) S213P probably benign Het
Zdhhc13 C A 7: 48,461,103 (GRCm39) Y346* probably null Het
Zfp280b A T 10: 75,875,075 (GRCm39) H318L 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
R0044:Dctn1 UTSW 6 83,168,116 (GRCm39) missense probably damaging 1.00
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
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'- GAGACCCTGCGCCTAAAACG -3'
(R):5'- ATCTCCAGGTCTGTGGTGAG -3'

Sequencing Primer
(F):5'- AAGCACAAGATCCAGCTGG -3'
(R):5'- CTGTGGTGAGCTCGTCTACC -3'
Posted On 2019-10-07