Incidental Mutation 'IGL01958:Dctn1'
ID 181474
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 # IGL01958
Quality Score
Status
Chromosome 6
Chromosomal Location 83142902-83177099 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 83168326 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 525 (T525A)
Ref Sequence ENSEMBL: ENSMUSP00000076623 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000077407] [ENSMUST00000113907] [ENSMUST00000113913] [ENSMUST00000113918] [ENSMUST00000113919] [ENSMUST00000130212] [ENSMUST00000141680]
AlphaFold O08788
Predicted Effect possibly damaging
Transcript: ENSMUST00000077407
AA Change: T525A

PolyPhen 2 Score 0.955 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000076623
Gene: ENSMUSG00000031865
AA Change: T525A

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 possibly damaging
Transcript: ENSMUST00000113907
AA Change: T428A

PolyPhen 2 Score 0.800 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000109540
Gene: ENSMUSG00000031865
AA Change: T428A

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: T545A
SMART Domains Protein: ENSMUSP00000109546
Gene: ENSMUSG00000031865
AA Change: T545A

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: T562A

PolyPhen 2 Score 0.707 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000109551
Gene: ENSMUSG00000031865
AA Change: T562A

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: T562A

PolyPhen 2 Score 0.707 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000109552
Gene: ENSMUSG00000031865
AA Change: T562A

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 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 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
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: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4732465J04Rik T C 10: 95,629,659 (GRCm39) I29T probably damaging Het
Agps G A 2: 75,740,045 (GRCm39) probably null Het
Agxt2 A G 15: 10,393,794 (GRCm39) probably null Het
Ahnak T C 19: 8,992,273 (GRCm39) V4519A possibly damaging Het
Aktip T C 8: 91,852,853 (GRCm39) D159G probably damaging Het
Ankrd44 T C 1: 54,806,125 (GRCm39) I94V probably damaging Het
Asph T C 4: 9,474,904 (GRCm39) E674G possibly damaging Het
Atat1 T A 17: 36,219,735 (GRCm39) probably benign Het
Ccar1 G A 10: 62,626,714 (GRCm39) A20V possibly damaging Het
Cdc26 T C 4: 62,321,001 (GRCm39) D14G probably damaging Het
Cdh15 T C 8: 123,586,089 (GRCm39) F156S probably damaging Het
Dnah8 T G 17: 31,074,869 (GRCm39) probably benign Het
Dnajc10 T A 2: 80,151,648 (GRCm39) probably benign Het
Dtl C A 1: 191,300,489 (GRCm39) W125L probably damaging Het
Fam3c G A 6: 22,318,954 (GRCm39) T149I probably damaging Het
Fgd6 A G 10: 93,974,170 (GRCm39) T1304A probably benign Het
Gm10718 A T 9: 3,025,118 (GRCm39) Y194F probably benign Het
Gm6578 A G 6: 12,099,766 (GRCm39) noncoding transcript Het
Gnai1 A G 5: 18,478,568 (GRCm39) F199S probably damaging Het
Grb7 T A 11: 98,345,480 (GRCm39) V480D probably damaging Het
Hdc A G 2: 126,436,452 (GRCm39) L473P possibly damaging Het
Hmcn1 T C 1: 150,479,622 (GRCm39) N4614S probably benign Het
Il20ra A G 10: 19,634,791 (GRCm39) D344G probably benign Het
Ints1 C T 5: 139,745,843 (GRCm39) R1342Q possibly damaging Het
Itga9 T A 9: 118,465,562 (GRCm39) probably benign Het
Kat14 T C 2: 144,236,285 (GRCm39) L339P probably damaging Het
Klhl22 A G 16: 17,594,326 (GRCm39) I152V probably benign Het
Krtap5-2 C A 7: 141,729,459 (GRCm39) G74* probably null Het
Lrrc59 C A 11: 94,529,354 (GRCm39) probably null Het
Map3k13 A G 16: 21,710,873 (GRCm39) Q52R probably benign Het
Mb21d2 A G 16: 28,646,495 (GRCm39) probably benign Het
Mphosph9 A T 5: 124,463,053 (GRCm39) probably benign Het
Myrf A G 19: 10,187,742 (GRCm39) probably benign Het
Nek11 T C 9: 105,177,502 (GRCm39) T250A probably benign Het
Nek5 A T 8: 22,586,842 (GRCm39) V323E probably benign Het
Nfasc A T 1: 132,536,176 (GRCm39) C586* probably null Het
Nup210l T A 3: 90,111,231 (GRCm39) L1711Q possibly damaging Het
Parp8 T G 13: 117,013,108 (GRCm39) K644Q probably benign Het
Pcnt G T 10: 76,269,513 (GRCm39) Q252K probably damaging Het
Pianp A G 6: 124,977,646 (GRCm39) T181A possibly damaging Het
Pkd1 T C 17: 24,799,298 (GRCm39) V2839A probably damaging Het
Poli C T 18: 70,659,657 (GRCm39) R58H possibly damaging Het
Ptk7 T C 17: 46,890,353 (GRCm39) D447G probably benign Het
Rapgef5 A G 12: 117,694,386 (GRCm39) I637V probably benign Het
Rasip1 A T 7: 45,286,188 (GRCm39) R804* probably null Het
Relt A G 7: 100,500,350 (GRCm39) V113A probably benign Het
Rnf215 G T 11: 4,090,317 (GRCm39) C345F probably damaging Het
Scart2 T C 7: 139,854,040 (GRCm39) C348R probably damaging Het
Scn2a A G 2: 65,532,173 (GRCm39) D595G probably damaging Het
Serpina3k G A 12: 104,307,316 (GRCm39) V183M probably damaging Het
Snapc4 T C 2: 26,256,452 (GRCm39) probably benign Het
Sparcl1 A T 5: 104,240,406 (GRCm39) D339E probably benign Het
Tg T C 15: 66,631,335 (GRCm39) F535L probably benign Het
Zbtb45 C A 7: 12,740,203 (GRCm39) A471S probably benign Het
Zfp106 T A 2: 120,365,288 (GRCm39) K373M probably benign 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
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
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 2014-05-07