Incidental Mutation 'R2008:Dctn1'
ID 219222
Institutional Source Beutler Lab
Gene Symbol Dctn1
Ensembl Gene ENSMUSG00000031865
Gene Name dynactin 1
Synonyms p150, Glued, p150
MMRRC Submission 040017-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R2008 (G1)
Quality Score 225
Status Not validated
Chromosome 6
Chromosomal Location 83142902-83177099 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 83166938 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Isoleucine at position 263 (T263I)
Ref Sequence ENSEMBL: ENSMUSP00000076623 (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: T263I

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000076623
Gene: ENSMUSG00000031865
AA Change: T263I

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: T166I

PolyPhen 2 Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000109540
Gene: ENSMUSG00000031865
AA Change: T166I

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: T283I
SMART Domains Protein: ENSMUSP00000109546
Gene: ENSMUSG00000031865
AA Change: T283I

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: T300I

PolyPhen 2 Score 0.861 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000109551
Gene: ENSMUSG00000031865
AA Change: T300I

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: T300I

PolyPhen 2 Score 0.861 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000109552
Gene: ENSMUSG00000031865
AA Change: T300I

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: 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
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.3%
  • 20x: 95.2%
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: 87 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2510039O18Rik T A 4: 148,026,034 (GRCm39) C185S probably benign Het
Acsbg3 A G 17: 57,193,478 (GRCm39) N608S probably benign Het
Actl6b T A 5: 137,567,592 (GRCm39) S409T probably damaging Het
Adam34l A T 8: 44,080,074 (GRCm39) V50D probably benign Het
Adgrf2 T C 17: 43,021,013 (GRCm39) T604A probably damaging Het
Adprs T A 4: 126,211,137 (GRCm39) D260V probably benign Het
Akap9 A G 5: 4,010,131 (GRCm39) E296G possibly damaging Het
Alg5 A G 3: 54,653,894 (GRCm39) Y210C possibly damaging Het
Aoc1 T C 6: 48,882,831 (GRCm39) W236R probably damaging Het
Atp11b A G 3: 35,909,271 (GRCm39) D1155G probably damaging Het
Atp2c1 T A 9: 105,309,925 (GRCm39) T551S probably benign Het
Atp7b A T 8: 22,517,996 (GRCm39) C281S probably damaging Het
Bmp1 C T 14: 70,729,906 (GRCm39) C466Y probably damaging Het
Cabin1 T C 10: 75,570,810 (GRCm39) probably null Het
Capn9 T G 8: 125,318,424 (GRCm39) C97G probably damaging Het
Cbfa2t3 A G 8: 123,370,032 (GRCm39) V147A probably damaging Het
Ccdc83 T A 7: 89,893,349 (GRCm39) Y136F probably damaging Het
Cdh6 C A 15: 13,051,562 (GRCm39) R357L possibly damaging Het
Celf1 A T 2: 90,840,753 (GRCm39) N367I probably damaging Het
Cep350 T C 1: 155,790,467 (GRCm39) I1363V probably benign Het
Cfap299 C T 5: 98,885,561 (GRCm39) T156I possibly damaging Het
Colec12 T A 18: 9,874,813 (GRCm39) D696E probably benign Het
Ctbp1 C T 5: 33,408,330 (GRCm39) E138K probably damaging Het
Cyp4a10 T C 4: 115,382,589 (GRCm39) I293T probably damaging Het
Dclk2 G A 3: 86,827,342 (GRCm39) P46S probably damaging Het
Ddx49 A T 8: 70,748,094 (GRCm39) V317E probably damaging Het
Edil3 G A 13: 89,093,072 (GRCm39) probably null Het
Egflam A T 15: 7,267,285 (GRCm39) V700E possibly damaging Het
Fam168b A G 1: 34,858,946 (GRCm39) probably null Het
Gigyf2 T G 1: 87,301,835 (GRCm39) probably null Het
H1f2 C G 13: 23,923,392 (GRCm39) S187R probably benign Het
Heatr4 A G 12: 84,026,514 (GRCm39) S248P probably benign Het
Hoxd1 A T 2: 74,594,524 (GRCm39) I260F possibly damaging Het
Hsd3b3 A T 3: 98,649,408 (GRCm39) L305Q probably damaging Het
Itch T A 2: 155,052,379 (GRCm39) C660S possibly damaging Het
Ivd A T 2: 118,701,981 (GRCm39) I138F probably benign Het
Katnip C G 7: 125,459,738 (GRCm39) H1189D probably damaging Het
Lcn4 G T 2: 26,561,228 (GRCm39) Q18K possibly damaging Het
Mapkbp1 T C 2: 119,843,146 (GRCm39) Y192H probably damaging Het
Mn1 T C 5: 111,566,723 (GRCm39) L231P probably damaging Het
Morc1 A G 16: 48,386,009 (GRCm39) D544G probably benign Het
Mthfd1 C A 12: 76,344,293 (GRCm39) T331K probably damaging Het
Myo18b T A 5: 113,021,423 (GRCm39) Y546F probably benign Het
Nod1 T C 6: 54,916,310 (GRCm39) Y129C probably damaging Het
Nprl3 A G 11: 32,182,973 (GRCm39) V563A probably damaging Het
Or13a18 T C 7: 140,190,498 (GRCm39) Y140H probably damaging Het
Or4a80 A T 2: 89,582,417 (GRCm39) C252S possibly damaging Het
Or5g29 A G 2: 85,421,766 (GRCm39) N294S probably damaging Het
Or5p72 T C 7: 108,022,389 (GRCm39) F204L probably benign Het
Or8b1b T C 9: 38,375,537 (GRCm39) S67P probably damaging Het
Orc3 T A 4: 34,611,049 (GRCm39) probably null Het
Otog T C 7: 45,913,498 (GRCm39) V777A probably benign Het
Pbxip1 G T 3: 89,356,020 (GRCm39) V711L probably benign Het
Pcdhb16 A G 18: 37,611,316 (GRCm39) D92G probably damaging Het
Phkb T A 8: 86,783,096 (GRCm39) M964K probably damaging Het
Pitpnm2 T A 5: 124,290,684 (GRCm39) M1L probably damaging Het
Pkhd1 A G 1: 20,269,683 (GRCm39) V3287A probably damaging Het
Polq T A 16: 36,882,844 (GRCm39) H1669Q probably damaging Het
Ppp4r4 T C 12: 103,552,016 (GRCm39) S195P probably damaging Het
Prdm2 T C 4: 142,861,517 (GRCm39) Y591C probably damaging Het
Rgsl1 T A 1: 153,701,651 (GRCm39) T268S possibly damaging Het
Scd2 A T 19: 44,291,610 (GRCm39) T350S probably benign Het
Scn7a T A 2: 66,518,091 (GRCm39) Q1040L possibly damaging Het
Sdhb T A 4: 140,706,340 (GRCm39) L259Q probably damaging Het
Senp6 A G 9: 80,033,680 (GRCm39) H701R probably damaging Het
Slc41a2 C T 10: 83,140,167 (GRCm39) probably null Het
Slx4 T C 16: 3,797,785 (GRCm39) D1533G probably damaging Het
Spef2 T C 15: 9,713,271 (GRCm39) K367R possibly damaging Het
Sstr3 G A 15: 78,424,711 (GRCm39) T12M probably benign Het
Synj2 G T 17: 6,047,221 (GRCm39) E20D probably damaging Het
Tchh G T 3: 93,353,281 (GRCm39) R907L unknown Het
Thsd1 A G 8: 22,749,247 (GRCm39) E645G probably benign Het
Tmem176b A T 6: 48,812,383 (GRCm39) M194K probably damaging Het
Tmprss11f T C 5: 86,739,265 (GRCm39) probably null Het
Trim44 G A 2: 102,230,722 (GRCm39) probably benign Het
Triml1 T A 8: 43,583,642 (GRCm39) R320W probably damaging Het
Trmt6 A T 2: 132,648,829 (GRCm39) C401* probably null Het
Trpv5 T C 6: 41,636,662 (GRCm39) probably null Het
V1rd19 T A 7: 23,702,726 (GRCm39) L64* probably null Het
Vmn1r216 A T 13: 23,283,661 (GRCm39) R115W probably damaging Het
Vmn2r58 T C 7: 41,509,924 (GRCm39) N551S probably damaging Het
Vmn2r77 T C 7: 86,450,921 (GRCm39) V269A probably benign Het
Vps13d A T 4: 144,881,813 (GRCm39) V1254D probably benign Het
Xpr1 T C 1: 155,156,775 (GRCm39) probably null Het
Zan T A 5: 137,450,712 (GRCm39) T1622S unknown Het
Zfp112 T C 7: 23,826,176 (GRCm39) Y715H probably damaging Het
Zfp750 G A 11: 121,403,951 (GRCm39) P308L 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
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'- GAAGCACAAGATCCAGCTGG -3'
(R):5'- AGAGCAACAATGTGTCCACG -3'

Sequencing Primer
(F):5'- TCGGAAGGTGAGCCTCAG -3'
(R):5'- AATGTGTCCACGCCGGG -3'
Posted On 2014-08-25