Incidental Mutation 'R9422:Dctn1'
ID 712375
Institutional Source Beutler Lab
Gene Symbol Dctn1
Ensembl Gene ENSMUSG00000031865
Gene Name dynactin 1
Synonyms p150, Glued, p150
MMRRC Submission
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R9422 (G1)
Quality Score 225.009
Status Validated
Chromosome 6
Chromosomal Location 83142902-83177099 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 83170691 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Glutamine at position 729 (H729Q)
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: H692Q

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000076623
Gene: ENSMUSG00000031865
AA Change: H692Q

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
AA Change: H595Q

PolyPhen 2 Score 0.166 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000109540
Gene: ENSMUSG00000031865
AA Change: H595Q

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: H712Q

PolyPhen 2 Score 0.711 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000109546
Gene: ENSMUSG00000031865
AA Change: H712Q

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: H729Q

PolyPhen 2 Score 0.663 (Sensitivity: 0.86; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000109551
Gene: ENSMUSG00000031865
AA Change: H729Q

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: H729Q

PolyPhen 2 Score 0.711 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000109552
Gene: ENSMUSG00000031865
AA Change: H729Q

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: 98.9%
Validation Efficiency 96% (55/57)
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: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930562C15Rik G A 16: 4,667,153 (GRCm39) V209I Het
Adamts18 T A 8: 114,501,910 (GRCm39) Y317F probably damaging Het
Adgrg6 C T 10: 14,302,740 (GRCm39) R863H probably damaging Het
Aipl1 C T 11: 71,928,253 (GRCm39) G11D probably damaging Het
Ank2 C A 3: 126,890,505 (GRCm39) K55N unknown Het
B3galnt2 A G 13: 14,150,136 (GRCm39) T160A probably benign Het
Becn1 C A 11: 101,192,832 (GRCm39) probably benign Het
Ccdc57 T C 11: 120,764,444 (GRCm39) N777S possibly damaging Het
Cd302 T C 2: 60,082,697 (GRCm39) Y209C probably damaging Het
Cfap69 A G 5: 5,699,851 (GRCm39) V63A probably benign Het
Clasp1 T A 1: 118,390,257 (GRCm39) I147N possibly damaging Het
Cmtm3 A T 8: 105,067,358 (GRCm39) probably benign Het
Cmtm3 G T 8: 105,067,359 (GRCm39) probably benign Het
Col15a1 A T 4: 47,293,364 (GRCm39) probably null Het
Csn3 A G 5: 88,077,872 (GRCm39) N126S probably benign Het
Dcp2 C T 18: 44,538,361 (GRCm39) R173C probably damaging Het
Dop1a C T 9: 86,425,093 (GRCm39) H2138Y probably damaging Het
Fbxo2 T C 4: 148,248,616 (GRCm39) L36P unknown Het
Gzmg T A 14: 56,395,812 (GRCm39) Y49F probably benign Het
H2bc3 A G 13: 23,930,940 (GRCm39) I55V possibly damaging Het
Hivep1 A G 13: 42,313,213 (GRCm39) T1818A probably benign Het
Ipmk T C 10: 71,212,550 (GRCm39) S171P possibly damaging Het
Milr1 T A 11: 106,657,805 (GRCm39) Y239N probably damaging Het
Muc16 T C 9: 18,553,102 (GRCm39) N4397S probably benign Het
Nell1 C A 7: 49,712,387 (GRCm39) S69* probably null Het
Nme8 A G 13: 19,859,918 (GRCm39) V234A probably benign Het
Notch2 A G 3: 98,054,668 (GRCm39) S2444G probably damaging Het
Odad3 T A 9: 21,913,628 (GRCm39) H48L possibly damaging Het
Or5p75-ps1 A T 7: 108,108,155 (GRCm39) K297N unknown Het
Or7g35 T A 9: 19,495,968 (GRCm39) I45K probably damaging Het
Pex5l T C 3: 33,136,401 (GRCm39) probably benign Het
Pgm3 A T 9: 86,443,938 (GRCm39) L322H probably damaging Het
Plxna2 T A 1: 194,326,730 (GRCm39) F221L probably damaging Het
Pramel22 T A 4: 143,382,982 (GRCm39) K79M probably damaging Het
Prkaa2 A G 4: 104,909,195 (GRCm39) I83T probably benign Het
R3hdml A G 2: 163,334,526 (GRCm39) T39A probably benign Het
Ralgds A G 2: 28,435,184 (GRCm39) M447V probably benign Het
Rgs2 T C 1: 143,878,783 (GRCm39) D40G probably damaging Het
Robo3 T C 9: 37,329,789 (GRCm39) M1176V probably benign Het
Rpap1 G A 2: 119,613,519 (GRCm39) probably benign Het
Skic3 A T 13: 76,278,447 (GRCm39) probably benign Het
Slc26a8 T C 17: 28,857,560 (GRCm39) D861G possibly damaging Het
Slc4a8 A T 15: 100,698,469 (GRCm39) I705F probably benign Het
Slco3a1 C T 7: 73,946,996 (GRCm39) V576I probably damaging Het
Socs7 A G 11: 97,253,973 (GRCm39) D169G possibly damaging Het
Tanc1 T C 2: 59,637,933 (GRCm39) V878A probably benign Het
Thop1 C T 10: 80,916,001 (GRCm39) R395W probably damaging Het
Tpp2 T A 1: 44,017,897 (GRCm39) H765Q probably benign Het
Vipr1 G A 9: 121,471,993 (GRCm39) probably null Het
Vmn1r233 T A 17: 21,214,069 (GRCm39) M294L possibly damaging Het
Vmn1r27 T C 6: 58,192,867 (GRCm39) T46A probably benign Het
Vmn2r28 A G 7: 5,483,747 (GRCm39) S818P probably damaging Het
Vmn2r97 T A 17: 19,149,333 (GRCm39) N240K probably benign Het
Zfhx3 C T 8: 109,430,850 (GRCm39) probably benign Het
Zfp667 A G 7: 6,308,321 (GRCm39) M330V probably benign Het
Zhx1 T C 15: 57,916,071 (GRCm39) Y725C probably damaging Het
Zhx3 C T 2: 160,624,020 (GRCm39) S49N 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
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
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
Predicted Primers PCR Primer
(F):5'- ACCGCTGAGCTATCATTGGC -3'
(R):5'- TGACTGTCACATGCGCATGG -3'

Sequencing Primer
(F):5'- AGACGGCATCTTACTGTAGC -3'
(R):5'- TCACATGCGCATGGGTCCTC -3'
Posted On 2022-05-16