Incidental Mutation 'R6265:Dctn6'
ID506953
Institutional Source Beutler Lab
Gene Symbol Dctn6
Ensembl Gene ENSMUSG00000031516
Gene Namedynactin 6
SynonymsWS-3, p27
MMRRC Submission
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #R6265 (G1)
Quality Score225.009
Status Validated
Chromosome8
Chromosomal Location34090420-34108796 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to T at 34094903 bp
ZygosityHeterozygous
Amino Acid Change Asparagine to Lysine at position 93 (N93K)
Ref Sequence ENSEMBL: ENSMUSP00000113716 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033913] [ENSMUST00000117243] [ENSMUST00000118811] [ENSMUST00000143411]
Predicted Effect probably damaging
Transcript: ENSMUST00000033913
AA Change: N88K

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000033913
Gene: ENSMUSG00000031516
AA Change: N88K

DomainStartEndE-ValueType
Pfam:Hexapep 8 43 3.3e-5 PFAM
Pfam:Hexapep 98 133 3.3e-7 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000117243
AA Change: N93K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000113716
Gene: ENSMUSG00000031516
AA Change: N93K

DomainStartEndE-ValueType
low complexity region 46 58 N/A INTRINSIC
Pfam:Hexapep 103 138 2.2e-7 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000118811
AA Change: N83K

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000113280
Gene: ENSMUSG00000031516
AA Change: N83K

DomainStartEndE-ValueType
Pfam:Hexapep 3 38 4.7e-6 PFAM
Pfam:Hexapep 93 128 5.7e-8 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000123113
Predicted Effect noncoding transcript
Transcript: ENSMUST00000131839
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142661
Predicted Effect probably benign
Transcript: ENSMUST00000143411
SMART Domains Protein: ENSMUSP00000117109
Gene: ENSMUSG00000031516

DomainStartEndE-ValueType
PDB:3TV0|B 1 103 3e-35 PDB
Predicted Effect possibly damaging
Transcript: ENSMUST00000152422
AA Change: N69K

PolyPhen 2 Score 0.938 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000120022
Gene: ENSMUSG00000031516
AA Change: N69K

DomainStartEndE-ValueType
low complexity region 23 35 N/A INTRINSIC
Pfam:Hexapep 80 115 1.6e-7 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153537
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155296
Predicted Effect noncoding transcript
Transcript: ENSMUST00000181097
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.5%
  • 20x: 95.9%
Validation Efficiency 100% (65/65)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene contains an RGD (Arg-Gly-Asp) motif in the N-terminal region, which confers adhesive properties to macromolecular proteins like fibronectin. It shares a high degree of sequence similarity with the mouse homolog, which has been suggested to play a role in mitochondrial biogenesis. The exact biological function of this gene is not known. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700013G24Rik C T 4: 137,454,675 P47L probably damaging Het
Acot1 T C 12: 84,016,913 I265T probably benign Het
Amotl1 T C 9: 14,571,655 D587G possibly damaging Het
Anks1b T G 10: 90,941,500 D1117E probably damaging Het
Art4 T G 6: 136,854,888 N85T probably damaging Het
Asb3 C A 11: 31,085,143 Q462K probably benign Het
Atcay C T 10: 81,213,280 E163K possibly damaging Het
Atp6v0e T C 17: 26,676,533 V20A possibly damaging Het
Atp7b G A 8: 22,015,927 Q520* probably null Het
Baat A T 4: 49,502,836 D95E possibly damaging Het
Cars2 TCCCC TCCC 8: 11,529,599 probably null Het
Ccdc24 G A 4: 117,871,177 Q47* probably null Het
Cep170b C A 12: 112,744,559 Q1488K probably damaging Het
Cldn24 A C 8: 47,822,339 D66A probably benign Het
Cln5 C A 14: 103,073,227 T110K probably damaging Het
Clvs2 C A 10: 33,528,515 S235I possibly damaging Het
Col5a3 C T 9: 20,793,764 G730R unknown Het
Crim1 C T 17: 78,370,085 P905L probably benign Het
Cxxc4 T C 3: 134,258,063 V356A probably benign Het
Dnah9 G A 11: 66,168,094 A125V probably benign Het
Dnhd1 T C 7: 105,693,370 I1307T probably benign Het
Dpy19l1 T A 9: 24,432,371 I493F possibly damaging Het
Ebf2 A G 14: 67,424,060 I546V probably benign Het
Fbll1 T C 11: 35,797,809 E209G probably damaging Het
Foxj2 G A 6: 122,828,174 A2T probably damaging Het
Foxs1 A T 2: 152,932,178 C318* probably null Het
Gorab T C 1: 163,386,630 T244A possibly damaging Het
Gtsf1l C A 2: 163,087,663 probably benign Het
Herc1 T C 9: 66,372,016 S69P probably benign Het
Hpca C T 4: 129,118,652 W30* probably null Het
Ing3 C A 6: 21,953,814 Q85K probably damaging Het
Klhdc8b T C 9: 108,448,425 E264G probably damaging Het
Lair1 T A 7: 4,055,827 probably benign Het
Lama1 T C 17: 67,750,655 Y575H probably damaging Het
Lamtor2 C A 3: 88,550,713 G29* probably null Het
Loxhd1 A T 18: 77,361,730 D341V probably damaging Het
Lrp2 T A 2: 69,466,340 D3290V probably damaging Het
Matn2 A T 15: 34,399,155 D396V probably damaging Het
Me3 T A 7: 89,849,743 D510E probably benign Het
Melk A G 4: 44,318,109 Y170C probably damaging Het
Mgat2 T C 12: 69,184,793 V47A probably benign Het
Mindy4 T C 6: 55,301,064 I631T probably damaging Het
Myo5b T A 18: 74,577,440 probably null Het
Myo7b A T 18: 31,998,150 D521E probably damaging Het
Nlrp9b T A 7: 20,062,683 F986I probably benign Het
Olfr1089 A G 2: 86,732,955 L219P probably damaging Het
Patj A G 4: 98,469,567 D690G probably benign Het
Pias2 T C 18: 77,097,258 S5P probably damaging Het
Reep4 A T 14: 70,547,703 S150C probably damaging Het
Slc25a21 T C 12: 57,196,900 R14G probably benign Het
Slc6a6 G C 6: 91,754,915 R575T probably damaging Het
Speg T A 1: 75,406,679 Y886* probably null Het
Tas2r103 A C 6: 133,036,531 F191V probably damaging Het
Tbc1d19 A G 5: 53,837,924 D145G probably benign Het
Tex47 T A 5: 7,305,461 I214N probably damaging Het
Tnnt3 A T 7: 142,501,645 D3V probably damaging Het
Trdv2-1 T G 14: 53,946,385 S24A probably benign Het
Ubr4 A G 4: 139,452,640 D3377G possibly damaging Het
Ugt3a2 A T 15: 9,361,579 D147V probably damaging Het
Usp9y A T Y: 1,446,843 D103E probably benign Homo
Vmn1r168 A G 7: 23,541,536 I273V probably benign Het
Vmn2r61 T C 7: 42,266,491 I176T probably benign Het
Vmn2r8 T A 5: 108,808,597 D53V probably benign Het
Zbtb8os A T 4: 129,335,982 probably benign Het
Zfp551 C T 7: 12,415,412 R690Q probably damaging Het
Other mutations in Dctn6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00983:Dctn6 APN 8 34092593 missense probably damaging 1.00
R2292:Dctn6 UTSW 8 34092525 missense probably benign 0.03
R4868:Dctn6 UTSW 8 34092076 unclassified probably benign
R5408:Dctn6 UTSW 8 34094902 missense possibly damaging 0.80
R5460:Dctn6 UTSW 8 34104981 splice site probably null
R5862:Dctn6 UTSW 8 34108417 critical splice donor site probably null
R7256:Dctn6 UTSW 8 34090808 missense probably damaging 1.00
R8884:Dctn6 UTSW 8 34090779 missense probably benign
RF031:Dctn6 UTSW 8 34105082 start codon destroyed probably null
Predicted Primers PCR Primer
(F):5'- CGACTCCTCTTTCCTAGAAAAGAGC -3'
(R):5'- GAGACAGCTGATTCAGATTCTGTTTTG -3'

Sequencing Primer
(F):5'- GATCCCCTCAGATTGAAGTTGCAG -3'
(R):5'- TGGAACTCACTCTGTAGACCAGG -3'
Posted On2018-03-15