Incidental Mutation 'IGL02814:Dctn1'
ID 360722
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Dctn1
Ensembl Gene ENSMUSG00000031865
Gene Name dynactin 1
Synonyms p150, Glued, p150
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL02814
Quality Score
Status
Chromosome 6
Chromosomal Location 83142902-83177099 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 83166896 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Glutamic Acid at position 152 (A152E)
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: A249E

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000076623
Gene: ENSMUSG00000031865
AA Change: A249E

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: A152E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000109540
Gene: ENSMUSG00000031865
AA Change: A152E

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: A269E
SMART Domains Protein: ENSMUSP00000109546
Gene: ENSMUSG00000031865
AA Change: A269E

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: A286E

PolyPhen 2 Score 0.930 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000109551
Gene: ENSMUSG00000031865
AA Change: A286E

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: A286E

PolyPhen 2 Score 0.930 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000109552
Gene: ENSMUSG00000031865
AA Change: A286E

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
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: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca9 A T 11: 110,045,293 (GRCm39) F347I possibly damaging Het
Adcy5 A G 16: 35,124,019 (GRCm39) T1233A probably benign Het
Blnk C T 19: 40,950,873 (GRCm39) D93N probably damaging Het
Cadps2 T C 6: 23,321,706 (GRCm39) E1083G probably damaging Het
Capn8 C A 1: 182,426,336 (GRCm39) L224M probably damaging Het
Cdh4 A T 2: 179,422,267 (GRCm39) E130D probably benign Het
Cgn G A 3: 94,681,550 (GRCm39) T515M probably benign Het
Chrna10 C T 7: 101,761,469 (GRCm39) G374D probably benign Het
Chrnb1 T A 11: 69,686,506 (GRCm39) Y38F probably damaging Het
Cyld A G 8: 89,471,525 (GRCm39) D621G probably benign Het
Cyp4f37 T C 17: 32,853,645 (GRCm39) F443S probably benign Het
Eml4 T A 17: 83,748,791 (GRCm39) Y228* probably null Het
Fbln2 T A 6: 91,242,839 (GRCm39) C846* probably null Het
Fut2 C T 7: 45,300,193 (GRCm39) G193E possibly damaging Het
Gart T C 16: 91,420,345 (GRCm39) S833G possibly damaging Het
Gda T C 19: 21,405,839 (GRCm39) probably null Het
Gjb5 C T 4: 127,249,355 (GRCm39) R263Q probably benign Het
Gtf2i T C 5: 134,315,558 (GRCm39) K193E probably damaging Het
H4c14 C A 3: 96,170,603 (GRCm39) K6N probably benign Het
Ints1 C T 5: 139,758,146 (GRCm39) E244K possibly damaging Het
Kat14 G A 2: 144,244,383 (GRCm39) S412N probably benign Het
Kcnn3 A T 3: 89,428,482 (GRCm39) H236L possibly damaging Het
Kif15 T A 9: 122,832,705 (GRCm39) I1005K possibly damaging Het
Klrc1 T C 6: 129,655,855 (GRCm39) T7A possibly damaging Het
Lcp2 T C 11: 34,021,033 (GRCm39) S130P probably damaging Het
Ldha T A 7: 46,500,315 (GRCm39) Y133* probably null Het
Lrp2 A G 2: 69,337,080 (GRCm39) C1231R probably damaging Het
Lrrn1 T A 6: 107,544,313 (GRCm39) V37D probably damaging Het
Mep1a T A 17: 43,788,112 (GRCm39) H648L probably benign Het
Mmp25 C T 17: 23,858,736 (GRCm39) G272R probably damaging Het
Myh15 A G 16: 48,965,801 (GRCm39) probably benign Het
Myl3 G T 9: 110,597,059 (GRCm39) E140* probably null Het
Nlrp4f A G 13: 65,332,856 (GRCm39) S809P probably damaging Het
Nrde2 T C 12: 100,110,394 (GRCm39) I207M probably null Het
Or13a26 T C 7: 140,285,046 (GRCm39) L294P probably damaging Het
Or2y8 C T 11: 52,035,637 (GRCm39) C240Y probably damaging Het
Or5p54 T C 7: 107,553,977 (GRCm39) I43T probably benign Het
Paics T G 5: 77,110,320 (GRCm39) V245G probably damaging Het
Pank1 A G 19: 34,818,255 (GRCm39) F95L probably damaging Het
Pde4dip A C 3: 97,674,416 (GRCm39) C167G probably damaging Het
Picalm C A 7: 89,840,957 (GRCm39) T542K possibly damaging Het
Piezo1 A G 8: 123,224,954 (GRCm39) Y651H probably damaging Het
Pikfyve T A 1: 65,289,353 (GRCm39) C1208* probably null Het
Pkd1l1 T A 11: 8,852,582 (GRCm39) T634S probably benign Het
Rab32 T C 10: 10,422,171 (GRCm39) T183A probably benign Het
Rad18 T C 6: 112,621,583 (GRCm39) I206V possibly damaging Het
Rbm15b T C 9: 106,762,975 (GRCm39) I398V probably benign Het
Rbm28 T C 6: 29,159,725 (GRCm39) E101G probably benign Het
Rsf1 T C 7: 97,310,434 (GRCm39) L388P probably damaging Het
Scnn1g A G 7: 121,339,588 (GRCm39) Y129C probably damaging Het
Slc7a13 G A 4: 19,839,387 (GRCm39) C330Y probably benign Het
Spock1 A T 13: 57,735,486 (GRCm39) V101E probably damaging Het
Sympk T A 7: 18,787,198 (GRCm39) W1029R probably damaging Het
Syne2 T A 12: 75,992,150 (GRCm39) H2008Q possibly damaging Het
Tgs1 T A 4: 3,585,719 (GRCm39) Y199N probably damaging Het
Trim10 T A 17: 37,188,228 (GRCm39) C481* probably null Het
Vmn2r102 A G 17: 19,898,170 (GRCm39) E395G probably damaging Het
Wfs1 A C 5: 37,125,013 (GRCm39) V626G possibly damaging Het
Zfp689 A G 7: 127,044,193 (GRCm39) S146P possibly damaging Het
Zfp786 T C 6: 47,796,775 (GRCm39) H721R probably damaging Het
Zfta C A 19: 7,397,787 (GRCm39) N111K 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
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
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
Posted On 2015-12-18