Incidental Mutation 'R1547:Dock6'
ID 172270
Institutional Source Beutler Lab
Gene Symbol Dock6
Ensembl Gene ENSMUSG00000032198
Gene Name dedicator of cytokinesis 6
Synonyms 4931431C02Rik, 2410095B20Rik, C330023D02Rik
MMRRC Submission 039586-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.482) question?
Stock # R1547 (G1)
Quality Score 225
Status Not validated
Chromosome 9
Chromosomal Location 21711476-21764006 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 21725884 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Lysine at position 1440 (E1440K)
Ref Sequence ENSEMBL: ENSMUSP00000034728 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034728] [ENSMUST00000217336]
AlphaFold Q8VDR9
Predicted Effect probably damaging
Transcript: ENSMUST00000034728
AA Change: E1440K

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000034728
Gene: ENSMUSG00000032198
AA Change: E1440K

DomainStartEndE-ValueType
low complexity region 26 42 N/A INTRINSIC
Pfam:DUF3398 63 155 4.7e-26 PFAM
low complexity region 419 429 N/A INTRINSIC
low complexity region 478 489 N/A INTRINSIC
Pfam:DOCK-C2 542 721 3.4e-46 PFAM
low complexity region 754 770 N/A INTRINSIC
low complexity region 776 787 N/A INTRINSIC
low complexity region 945 965 N/A INTRINSIC
low complexity region 1057 1072 N/A INTRINSIC
low complexity region 1123 1153 N/A INTRINSIC
low complexity region 1173 1190 N/A INTRINSIC
low complexity region 1340 1356 N/A INTRINSIC
Pfam:DHR-2 1554 2080 6.6e-214 PFAM
low complexity region 2093 2107 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000184374
Predicted Effect unknown
Transcript: ENSMUST00000215729
AA Change: E204K
Predicted Effect probably damaging
Transcript: ENSMUST00000217336
AA Change: E1471K

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.1%
  • 10x: 95.5%
  • 20x: 89.3%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the dedicator of cytokinesis (DOCK) family of atypical guanine nucleotide exchange factors. Guanine nucleotide exchange factors interact with small GTPases and are components of intracellular signaling networks. The encoded protein is a group C DOCK protein and plays a role in actin cytoskeletal reorganization by activating the Rho GTPases Cdc42 and Rac1. Mutations in this gene are associated with Adams-Oliver syndrome 2. [provided by RefSeq, Dec 2011]
Allele List at MGI
Other mutations in this stock
Total: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam17 A C 12: 21,403,958 (GRCm39) V96G probably damaging Het
Adam5 G T 8: 25,300,729 (GRCm39) Q267K probably benign Het
Adamts6 A G 13: 104,581,383 (GRCm39) T833A probably benign Het
Ago4 C T 4: 126,405,206 (GRCm39) E456K probably benign Het
Anapc1 T C 2: 128,459,476 (GRCm39) Q1861R probably benign Het
Apob A T 12: 8,053,368 (GRCm39) D1270V probably benign Het
Arb2a T C 13: 77,973,509 (GRCm39) probably null Het
Arhgef11 T A 3: 87,602,709 (GRCm39) I196N possibly damaging Het
Armh4 A T 14: 50,010,953 (GRCm39) D251E probably benign Het
Capzb G A 4: 138,989,409 (GRCm39) probably null Het
Ccdc183 T A 2: 25,499,362 (GRCm39) T466S probably benign Het
Cd101 T C 3: 100,926,267 (GRCm39) T151A possibly damaging Het
Cdc42bpa A T 1: 179,902,209 (GRCm39) I489F probably damaging Het
Cetn4 T C 3: 37,363,600 (GRCm39) K52R possibly damaging Het
Edem2 A G 2: 155,564,436 (GRCm39) F94L probably damaging Het
Elp1 C A 4: 56,792,090 (GRCm39) R226L probably damaging Het
Elp1 C T 4: 56,798,810 (GRCm39) V51M probably damaging Het
Entrep1 T C 19: 23,957,065 (GRCm39) D315G probably damaging Het
Etl4 T C 2: 20,790,039 (GRCm39) S881P probably damaging Het
Fat2 G A 11: 55,143,081 (GRCm39) P4256L probably benign Het
Fmnl2 A G 2: 52,995,549 (GRCm39) E424G probably damaging Het
Kif19a A G 11: 114,677,398 (GRCm39) E594G probably benign Het
Kifap3 A G 1: 163,621,655 (GRCm39) D101G probably benign Het
Klhl6 T C 16: 19,784,832 (GRCm39) D102G probably benign Het
Klra3 G C 6: 130,310,107 (GRCm39) R138G probably benign Het
Lamb2 A G 9: 108,359,824 (GRCm39) H388R probably benign Het
Lmna T C 3: 88,389,658 (GRCm39) S656G probably benign Het
Map3k12 T A 15: 102,412,287 (GRCm39) I285F probably damaging Het
Map3k7 A G 4: 31,991,796 (GRCm39) I345V probably benign Het
Mcph1 A G 8: 18,672,702 (GRCm39) R111G possibly damaging Het
Mfsd6l T A 11: 68,447,434 (GRCm39) V95D probably damaging Het
Mogs T A 6: 83,093,006 (GRCm39) M118K possibly damaging Het
Npy5r T C 8: 67,133,686 (GRCm39) E369G possibly damaging Het
Nudt16l2 A T 9: 105,021,889 (GRCm39) F52L probably damaging Het
Or10j3 T A 1: 173,031,239 (GRCm39) Y105* probably null Het
Or2t49 A G 11: 58,392,651 (GRCm39) S244P probably damaging Het
Or8b12b A C 9: 37,683,960 (GRCm39) T2P probably benign Het
Pde7b C A 10: 20,310,340 (GRCm39) L207F probably damaging Het
Pigo A G 4: 43,020,689 (GRCm39) V751A probably benign Het
Polr2a T C 11: 69,625,381 (GRCm39) Y1923C probably benign Het
Prokr2 T C 2: 132,215,522 (GRCm39) Y152C probably damaging Het
Rab40c A G 17: 26,102,724 (GRCm39) S223P probably damaging Het
Recql4 A C 15: 76,590,511 (GRCm39) C658G probably damaging Het
Sgca T C 11: 94,860,259 (GRCm39) T46A probably damaging Het
Slc39a4 G T 15: 76,498,347 (GRCm39) C363* probably null Het
Snap25 A T 2: 136,619,389 (GRCm39) I181F possibly damaging Het
Snx32 T A 19: 5,547,339 (GRCm39) Q256L possibly damaging Het
Soat1 A G 1: 156,267,331 (GRCm39) V284A probably damaging Het
Sox6 G A 7: 115,300,957 (GRCm39) T170M possibly damaging Het
Spag16 G T 1: 69,912,402 (GRCm39) V246F possibly damaging Het
St6galnac6 T C 2: 32,504,977 (GRCm39) V141A possibly damaging Het
Sult2a7 T A 7: 14,211,047 (GRCm39) probably null Het
Syngr3 A T 17: 24,906,698 (GRCm39) V39E probably damaging Het
Tango6 A G 8: 107,508,418 (GRCm39) T917A probably damaging Het
Tas1r1 A G 4: 152,112,876 (GRCm39) S726P probably damaging Het
Zeb1 C T 18: 5,767,450 (GRCm39) R654C possibly damaging Het
Other mutations in Dock6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00944:Dock6 APN 9 21,757,930 (GRCm39) missense possibly damaging 0.50
IGL01025:Dock6 APN 9 21,723,103 (GRCm39) missense possibly damaging 0.89
IGL01390:Dock6 APN 9 21,714,341 (GRCm39) missense probably damaging 1.00
IGL02025:Dock6 APN 9 21,720,885 (GRCm39) missense probably damaging 0.98
IGL02028:Dock6 APN 9 21,750,122 (GRCm39) missense probably damaging 1.00
IGL02311:Dock6 APN 9 21,755,624 (GRCm39) missense probably damaging 1.00
IGL02441:Dock6 APN 9 21,753,222 (GRCm39) missense possibly damaging 0.77
IGL02504:Dock6 APN 9 21,757,951 (GRCm39) missense probably benign 0.19
IGL02516:Dock6 APN 9 21,713,881 (GRCm39) missense probably damaging 1.00
IGL02836:Dock6 APN 9 21,713,160 (GRCm39) missense probably damaging 1.00
IGL02894:Dock6 APN 9 21,723,111 (GRCm39) missense probably damaging 1.00
backwater UTSW 9 21,735,712 (GRCm39) missense probably benign 0.29
bayfront UTSW 9 21,733,041 (GRCm39) missense probably benign 0.29
marshland UTSW 9 21,752,899 (GRCm39) missense probably benign 0.00
Shallows UTSW 9 21,731,918 (GRCm39) missense probably benign
IGL03048:Dock6 UTSW 9 21,720,866 (GRCm39) missense probably damaging 1.00
R0370:Dock6 UTSW 9 21,725,861 (GRCm39) missense probably benign 0.29
R0504:Dock6 UTSW 9 21,713,732 (GRCm39) missense probably damaging 1.00
R0633:Dock6 UTSW 9 21,755,713 (GRCm39) missense probably benign 0.00
R0634:Dock6 UTSW 9 21,752,823 (GRCm39) missense probably damaging 1.00
R0671:Dock6 UTSW 9 21,715,923 (GRCm39) splice site probably benign
R0839:Dock6 UTSW 9 21,729,188 (GRCm39) missense probably benign 0.01
R0948:Dock6 UTSW 9 21,712,829 (GRCm39) missense probably damaging 1.00
R1022:Dock6 UTSW 9 21,744,908 (GRCm39) missense probably damaging 1.00
R1024:Dock6 UTSW 9 21,744,908 (GRCm39) missense probably damaging 1.00
R1073:Dock6 UTSW 9 21,757,814 (GRCm39) missense probably benign
R1463:Dock6 UTSW 9 21,743,202 (GRCm39) missense probably damaging 1.00
R1481:Dock6 UTSW 9 21,731,918 (GRCm39) missense probably benign
R1494:Dock6 UTSW 9 21,726,038 (GRCm39) missense probably benign 0.34
R1654:Dock6 UTSW 9 21,716,139 (GRCm39) missense probably damaging 0.98
R1782:Dock6 UTSW 9 21,723,142 (GRCm39) missense probably damaging 1.00
R1905:Dock6 UTSW 9 21,740,870 (GRCm39) missense probably benign 0.37
R1908:Dock6 UTSW 9 21,752,925 (GRCm39) missense probably damaging 1.00
R1916:Dock6 UTSW 9 21,724,387 (GRCm39) missense probably damaging 1.00
R2132:Dock6 UTSW 9 21,757,814 (GRCm39) missense probably benign
R2197:Dock6 UTSW 9 21,744,177 (GRCm39) missense probably damaging 1.00
R2316:Dock6 UTSW 9 21,750,973 (GRCm39) missense probably damaging 0.98
R2341:Dock6 UTSW 9 21,750,782 (GRCm39) splice site probably benign
R2519:Dock6 UTSW 9 21,727,629 (GRCm39) missense possibly damaging 0.54
R2924:Dock6 UTSW 9 21,720,926 (GRCm39) missense probably damaging 1.00
R2939:Dock6 UTSW 9 21,750,496 (GRCm39) missense possibly damaging 0.88
R2940:Dock6 UTSW 9 21,750,496 (GRCm39) missense possibly damaging 0.88
R3078:Dock6 UTSW 9 21,757,050 (GRCm39) splice site probably benign
R3081:Dock6 UTSW 9 21,750,496 (GRCm39) missense possibly damaging 0.88
R3810:Dock6 UTSW 9 21,712,873 (GRCm39) missense probably damaging 1.00
R4246:Dock6 UTSW 9 21,750,786 (GRCm39) splice site probably null
R4604:Dock6 UTSW 9 21,713,836 (GRCm39) missense probably damaging 1.00
R4833:Dock6 UTSW 9 21,755,576 (GRCm39) missense probably damaging 1.00
R4849:Dock6 UTSW 9 21,723,068 (GRCm39) critical splice donor site probably null
R4896:Dock6 UTSW 9 21,735,733 (GRCm39) missense possibly damaging 0.48
R4926:Dock6 UTSW 9 21,757,087 (GRCm39) missense probably damaging 1.00
R5183:Dock6 UTSW 9 21,752,899 (GRCm39) missense probably benign 0.00
R5211:Dock6 UTSW 9 21,731,648 (GRCm39) missense probably benign 0.36
R5337:Dock6 UTSW 9 21,740,844 (GRCm39) missense possibly damaging 0.93
R5353:Dock6 UTSW 9 21,726,082 (GRCm39) missense probably benign 0.00
R5429:Dock6 UTSW 9 21,744,177 (GRCm39) missense probably damaging 0.99
R5463:Dock6 UTSW 9 21,721,254 (GRCm39) splice site probably null
R5476:Dock6 UTSW 9 21,720,885 (GRCm39) missense probably damaging 0.98
R5511:Dock6 UTSW 9 21,728,703 (GRCm39) missense possibly damaging 0.59
R5534:Dock6 UTSW 9 21,714,372 (GRCm39) nonsense probably null
R5718:Dock6 UTSW 9 21,735,789 (GRCm39) missense probably benign 0.11
R5823:Dock6 UTSW 9 21,716,124 (GRCm39) missense probably damaging 0.99
R5831:Dock6 UTSW 9 21,714,332 (GRCm39) missense probably damaging 1.00
R5887:Dock6 UTSW 9 21,731,690 (GRCm39) missense probably damaging 0.96
R5930:Dock6 UTSW 9 21,735,712 (GRCm39) missense probably benign 0.29
R6159:Dock6 UTSW 9 21,733,041 (GRCm39) missense probably benign 0.29
R6633:Dock6 UTSW 9 21,732,799 (GRCm39) missense probably damaging 1.00
R6633:Dock6 UTSW 9 21,731,627 (GRCm39) missense probably benign 0.17
R6665:Dock6 UTSW 9 21,751,208 (GRCm39) missense probably damaging 0.99
R6744:Dock6 UTSW 9 21,742,770 (GRCm39) missense probably damaging 1.00
R6903:Dock6 UTSW 9 21,720,860 (GRCm39) missense probably damaging 1.00
R6981:Dock6 UTSW 9 21,756,846 (GRCm39) missense probably damaging 0.99
R7024:Dock6 UTSW 9 21,731,666 (GRCm39) missense probably benign
R7030:Dock6 UTSW 9 21,724,375 (GRCm39) missense probably damaging 1.00
R7045:Dock6 UTSW 9 21,733,107 (GRCm39) missense probably damaging 1.00
R7139:Dock6 UTSW 9 21,712,572 (GRCm39) missense probably damaging 1.00
R7356:Dock6 UTSW 9 21,721,195 (GRCm39) missense probably damaging 1.00
R7400:Dock6 UTSW 9 21,713,103 (GRCm39) missense possibly damaging 0.62
R7847:Dock6 UTSW 9 21,712,503 (GRCm39) missense unknown
R7863:Dock6 UTSW 9 21,757,954 (GRCm39) missense possibly damaging 0.85
R7991:Dock6 UTSW 9 21,757,858 (GRCm39) missense probably damaging 1.00
R7992:Dock6 UTSW 9 21,744,135 (GRCm39) critical splice donor site probably null
R8012:Dock6 UTSW 9 21,757,807 (GRCm39) missense probably benign 0.16
R8184:Dock6 UTSW 9 21,741,596 (GRCm39) missense possibly damaging 0.54
R8213:Dock6 UTSW 9 21,742,740 (GRCm39) missense possibly damaging 0.77
R8560:Dock6 UTSW 9 21,714,132 (GRCm39) missense probably benign 0.00
R8828:Dock6 UTSW 9 21,757,797 (GRCm39) missense probably benign
R9090:Dock6 UTSW 9 21,752,796 (GRCm39) missense possibly damaging 0.75
R9221:Dock6 UTSW 9 21,721,153 (GRCm39) missense possibly damaging 0.77
R9271:Dock6 UTSW 9 21,752,796 (GRCm39) missense possibly damaging 0.75
R9301:Dock6 UTSW 9 21,729,111 (GRCm39) missense probably benign
R9308:Dock6 UTSW 9 21,728,744 (GRCm39) nonsense probably null
R9476:Dock6 UTSW 9 21,724,821 (GRCm39) missense probably damaging 1.00
R9526:Dock6 UTSW 9 21,713,802 (GRCm39) nonsense probably null
R9544:Dock6 UTSW 9 21,732,830 (GRCm39) nonsense probably null
R9716:Dock6 UTSW 9 21,742,418 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- AGCCAACGTCATCTCTGTGAAGC -3'
(R):5'- GAGAGCATTCATTCCTCTGTGCCC -3'

Sequencing Primer
(F):5'- TCATCTCTGTGAAGCACGGC -3'
(R):5'- AGTGACATCACGAGCTGTCC -3'
Posted On 2014-04-13