Incidental Mutation 'R8750:Dctn1'
ID 663766
Institutional Source Beutler Lab
Gene Symbol Dctn1
Ensembl Gene ENSMUSG00000031865
Gene Name dynactin 1
Synonyms p150, Glued, p150
MMRRC Submission 068593-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R8750 (G1)
Quality Score 225.009
Status Not validated
Chromosome 6
Chromosomal Location 83142902-83177099 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 83160108 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glycine at position 116 (V116G)
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 benign
Transcript: ENSMUST00000077407
AA Change: V99G

PolyPhen 2 Score 0.144 (Sensitivity: 0.92; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000076623
Gene: ENSMUSG00000031865
AA Change: V99G

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 benign
Transcript: ENSMUST00000113907
SMART Domains Protein: ENSMUSP00000109540
Gene: ENSMUSG00000031865

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: V99G

PolyPhen 2 Score 0.934 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000109546
Gene: ENSMUSG00000031865
AA Change: V99G

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 probably benign
Transcript: ENSMUST00000113918
AA Change: V116G

PolyPhen 2 Score 0.248 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000109551
Gene: ENSMUSG00000031865
AA Change: V116G

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: V116G

PolyPhen 2 Score 0.934 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000109552
Gene: ENSMUSG00000031865
AA Change: V116G

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
AA Change: V99G

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000115838
Gene: ENSMUSG00000031865
AA Change: V99G

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 possibly damaging
Transcript: ENSMUST00000141680
AA Change: V99G

PolyPhen 2 Score 0.934 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000121538
Gene: ENSMUSG00000031865
AA Change: V99G

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
Meta Mutation Damage Score 0.0592 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.6%
Validation Efficiency
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: 72 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam21 G A 12: 81,607,247 (GRCm39) Q172* probably null Het
Ankib1 A G 5: 3,752,890 (GRCm39) probably null Het
Avpr1b C T 1: 131,527,674 (GRCm39) R66C probably damaging Het
Bbs7 A T 3: 36,661,744 (GRCm39) C152S possibly damaging Het
Cacna1a C A 8: 85,285,784 (GRCm39) R810S probably damaging Het
Ccdc17 G A 4: 116,457,129 (GRCm39) A538T possibly damaging Het
Cd93 T C 2: 148,285,080 (GRCm39) M89V probably benign Het
Clec11a G T 7: 43,955,323 (GRCm39) D157E probably benign Het
Crtam A C 9: 40,895,641 (GRCm39) D228E probably benign Het
Cyp2a4 A G 7: 26,012,209 (GRCm39) I331V probably benign Het
Cysltr2 T C 14: 73,267,078 (GRCm39) I211V probably benign Het
Dcaf13 T C 15: 38,982,836 (GRCm39) S123P probably damaging Het
Dmrt3 G A 19: 25,588,550 (GRCm39) A130T probably benign Het
Dnah1 A T 14: 31,026,924 (GRCm39) L700Q probably benign Het
Dnajc1 T C 2: 18,313,645 (GRCm39) T159A probably damaging Het
Dpyd C T 3: 118,935,585 (GRCm39) S670L probably damaging Het
Dsg2 A T 18: 20,708,069 (GRCm39) I57F possibly damaging Het
Dzip3 A C 16: 48,801,338 (GRCm39) I62S probably damaging Het
Ern1 A T 11: 106,312,776 (GRCm39) S202T probably damaging Het
Foxm1 T A 6: 128,350,206 (GRCm39) C517* probably null Het
Galnt16 G A 12: 80,644,879 (GRCm39) V501I probably benign Het
Gmip A T 8: 70,273,134 (GRCm39) R840S probably benign Het
Gna14 A C 19: 16,585,458 (GRCm39) I279L Het
Irak2 T C 6: 113,663,783 (GRCm39) M444T probably benign Het
Itfg2 T C 6: 128,389,755 (GRCm39) probably null Het
Kif5a T A 10: 127,083,909 (GRCm39) H94L probably damaging Het
Kmt2e A G 5: 23,698,215 (GRCm39) T636A probably benign Het
Krba1 T C 6: 48,382,212 (GRCm39) S152P probably damaging Het
Mad1l1 T A 5: 140,300,822 (GRCm39) M25L probably benign Het
Map7d1 T C 4: 126,132,315 (GRCm39) N286D probably benign Het
Mfrp A G 9: 44,014,802 (GRCm39) K280E probably benign Het
Mlh3 G T 12: 85,308,488 (GRCm39) L1100I probably damaging Het
Mrgprx2 T C 7: 48,131,778 (GRCm39) I347V probably benign Het
Mtnr1b A T 9: 15,785,724 (GRCm39) C11* probably null Het
Mx1 T C 16: 97,252,917 (GRCm39) E401G probably damaging Het
Mypn T C 10: 63,003,036 (GRCm39) D367G probably benign Het
Nherf2 T C 17: 24,861,233 (GRCm39) I176V probably damaging Het
Or52a33 T A 7: 103,289,059 (GRCm39) D96V probably damaging Het
Or6c5b T C 10: 129,245,649 (GRCm39) V138A probably benign Het
Or8s8 T G 15: 98,354,929 (GRCm39) I246R probably damaging Het
Or9g19 T A 2: 85,600,307 (GRCm39) L54H probably damaging Het
Plcb1 T G 2: 135,177,369 (GRCm39) M567R probably damaging Het
Plekhd1 A T 12: 80,752,861 (GRCm39) D109V probably damaging Het
Polr2e A G 10: 79,875,424 (GRCm39) I17T probably benign Het
Pot1b T C 17: 55,973,537 (GRCm39) D421G probably benign Het
Prkar1b A T 5: 139,036,451 (GRCm39) W224R probably damaging Het
Psmd1 C A 1: 86,016,585 (GRCm39) R490S probably damaging Het
Pwp2 A G 10: 78,013,659 (GRCm39) W521R probably damaging Het
Rhpn2 C A 7: 35,075,680 (GRCm39) Q286K probably benign Het
Rnf103 T A 6: 71,486,602 (GRCm39) M411K probably benign Het
Scpep1 A C 11: 88,835,298 (GRCm39) V125G probably damaging Het
Serpinb9c C T 13: 33,335,793 (GRCm39) V248M probably null Het
Snx15 T A 19: 6,170,593 (GRCm39) N282I probably benign Het
Spaca3 A T 11: 80,758,514 (GRCm39) D159V probably benign Het
Srrm4 A G 5: 116,605,567 (GRCm39) V230A unknown Het
Ssu2 T A 6: 112,359,312 (GRCm39) I103F possibly damaging Het
Strip2 T A 6: 29,931,815 (GRCm39) F453I probably damaging Het
Tac2 C T 10: 127,564,319 (GRCm39) P72L possibly damaging Het
Tiparp T G 3: 65,460,125 (GRCm39) S473R probably damaging Het
Tmem135 C T 7: 88,956,456 (GRCm39) R53Q probably damaging Het
Tmem200b T A 4: 131,649,406 (GRCm39) F109I probably damaging Het
Tmem245 A T 4: 56,886,141 (GRCm39) I825N probably damaging Het
Tmem63c G T 12: 87,103,306 (GRCm39) V27F probably damaging Het
Tshz1 T C 18: 84,033,162 (GRCm39) I415M probably damaging Het
Tut4 C G 4: 108,407,940 (GRCm39) A1403G probably damaging Het
Wfdc2 T A 2: 164,407,818 (GRCm39) N162K probably damaging Het
Zeb2 T A 2: 44,887,939 (GRCm39) I373F probably damaging Het
Zfp27 T C 7: 29,594,804 (GRCm39) N387S possibly damaging Het
Zfp760 A T 17: 21,941,356 (GRCm39) H177L possibly damaging Het
Zg16 A G 7: 126,649,518 (GRCm39) S148P possibly damaging Het
Zic2 A G 14: 122,714,129 (GRCm39) N348D probably benign Het
Zswim4 A T 8: 84,939,313 (GRCm39) D856E possibly 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
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
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'- CAAGATCAAGCCTGTTCTGTCCC -3'
(R):5'- CTTACAGTGCCAAACCGCTC -3'

Sequencing Primer
(F):5'- TGTCCCCAGCTTGCTCGG -3'
(R):5'- ATCGGCTCCCTCTGTAGAAAG -3'
Posted On 2021-03-08