Incidental Mutation 'R4604:Dock6'
ID 345894
Institutional Source Beutler Lab
Gene Symbol Dock6
Ensembl Gene ENSMUSG00000032198
Gene Name dedicator of cytokinesis 6
Synonyms 4931431C02Rik, 2410095B20Rik, C330023D02Rik
MMRRC Submission 041816-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.482) question?
Stock # R4604 (G1)
Quality Score 225
Status Not validated
Chromosome 9
Chromosomal Location 21711476-21764006 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 21713836 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 1867 (L1867P)
Ref Sequence ENSEMBL: ENSMUSP00000034728 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034717] [ENSMUST00000034728] [ENSMUST00000213691] [ENSMUST00000216008] [ENSMUST00000217336]
AlphaFold Q8VDR9
Predicted Effect probably benign
Transcript: ENSMUST00000034717
SMART Domains Protein: ENSMUSP00000034717
Gene: ENSMUSG00000032194

DomainStartEndE-ValueType
Pfam:KN_motif 31 69 9.6e-26 PFAM
low complexity region 139 157 N/A INTRINSIC
coiled coil region 213 229 N/A INTRINSIC
coiled coil region 284 316 N/A INTRINSIC
low complexity region 324 343 N/A INTRINSIC
low complexity region 457 470 N/A INTRINSIC
ANK 658 688 6.36e-3 SMART
ANK 692 725 7.29e2 SMART
ANK 730 759 4.97e-5 SMART
ANK 763 793 3.85e-2 SMART
ANK 797 825 1.06e1 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000034728
AA Change: L1867P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000034728
Gene: ENSMUSG00000032198
AA Change: L1867P

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 probably benign
Transcript: ENSMUST00000213691
Predicted Effect probably benign
Transcript: ENSMUST00000215729
Predicted Effect probably benign
Transcript: ENSMUST00000216008
Predicted Effect noncoding transcript
Transcript: ENSMUST00000217310
Predicted Effect probably damaging
Transcript: ENSMUST00000217336
AA Change: L1898P

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.1%
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: 106 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930518I15Rik C T 2: 156,699,074 (GRCm39) probably benign Het
Abcb6 G A 1: 75,156,521 (GRCm39) T81I probably benign Het
Acp6 A G 3: 97,083,075 (GRCm39) K362R probably benign Het
Adam26a A G 8: 44,023,088 (GRCm39) M134T probably benign Het
Ankrd27 C T 7: 35,327,915 (GRCm39) P812S probably damaging Het
Arl6ip1 AAAATAAATAAATAAATAAATAAATA AAAATAAATAAATAAATAAATAAATAAATA 7: 117,721,122 (GRCm39) probably benign Het
Atp2a1 G A 7: 126,047,795 (GRCm39) R672C probably damaging Het
Atxn2 G T 5: 121,919,406 (GRCm39) W371C probably damaging Het
B3gnt2 T TTCACAAA 11: 22,786,426 (GRCm39) probably null Het
Btnl6 T A 17: 34,727,435 (GRCm39) D365V possibly damaging Het
Ccdc80 T A 16: 44,915,928 (GRCm39) L228Q probably damaging Het
Cdc42bpa A G 1: 179,936,759 (GRCm39) H718R probably benign Het
Cdh18 A G 15: 23,474,454 (GRCm39) K775E probably benign Het
Cdh23 T G 10: 60,173,445 (GRCm39) N1679T possibly damaging Het
Cep192 T A 18: 67,948,993 (GRCm39) D271E possibly damaging Het
Cfap70 G T 14: 20,493,729 (GRCm39) T124K probably benign Het
Ckap5 A T 2: 91,408,476 (GRCm39) E890D probably benign Het
Col22a1 G T 15: 71,824,188 (GRCm39) P569T probably benign Het
Colq A T 14: 31,267,060 (GRCm39) L150Q possibly damaging Het
Csf1 T C 3: 107,664,278 (GRCm39) probably null Het
Csmd3 A T 15: 47,868,211 (GRCm39) S770T possibly damaging Het
Cul9 C A 17: 46,841,072 (GRCm39) V733L probably damaging Het
Cyp2c55 A G 19: 39,019,830 (GRCm39) D256G possibly damaging Het
Dclk3 A T 9: 111,298,253 (GRCm39) D599V probably damaging Het
Defb26 T A 2: 152,350,104 (GRCm39) I59F possibly damaging Het
Dnah6 A G 6: 73,106,643 (GRCm39) V1646A possibly damaging Het
Dnm2 T C 9: 21,415,960 (GRCm39) probably null Het
Dock9 G T 14: 121,905,871 (GRCm39) T93K probably damaging Het
Dync2h1 T C 9: 7,140,995 (GRCm39) H1344R probably benign Het
Enam A C 5: 88,652,142 (GRCm39) Q1217P possibly damaging Het
Fbf1 A T 11: 116,049,748 (GRCm39) D91E possibly damaging Het
Fbxo7 T G 10: 85,882,666 (GRCm39) W393G probably damaging Het
Gab2 A G 7: 96,953,420 (GRCm39) T599A probably damaging Het
Gfy T A 7: 44,826,612 (GRCm39) I409F possibly damaging Het
Gm19345 T A 7: 19,591,433 (GRCm39) probably null Het
Gm4787 A G 12: 81,425,987 (GRCm39) M57T probably benign Het
Gper1 A G 5: 139,412,480 (GRCm39) E275G probably damaging Het
Grik4 T C 9: 42,435,882 (GRCm39) E803G probably damaging Het
Gstm3 G A 3: 107,875,513 (GRCm39) P39L possibly damaging Het
Hax1 A T 3: 89,904,767 (GRCm39) V142D probably damaging Het
Hcn3 A T 3: 89,057,747 (GRCm39) I383N probably damaging Het
Hdac10 C A 15: 89,009,600 (GRCm39) probably null Het
Hipk3 A C 2: 104,269,674 (GRCm39) M505R probably damaging Het
Hivep1 C T 13: 42,313,225 (GRCm39) P1822S probably benign Het
Hsd17b13 G T 5: 104,104,124 (GRCm39) H281N unknown Het
Ilrun T C 17: 28,039,289 (GRCm39) D7G probably damaging Het
Irak2 T A 6: 113,649,848 (GRCm39) I222N probably damaging Het
Kalrn G A 16: 34,334,296 (GRCm39) L7F possibly damaging Het
Kcnma1 A G 14: 23,359,106 (GRCm39) probably null Het
Kcnn3 G T 3: 89,427,727 (GRCm39) probably benign Het
Lamb1 A C 12: 31,328,775 (GRCm39) D218A probably damaging Het
Lrrtm1 A T 6: 77,221,127 (GRCm39) N195Y probably damaging Het
Ltf A T 9: 110,851,409 (GRCm39) N72I probably damaging Het
Mcm4 A G 16: 15,447,527 (GRCm39) I479T probably damaging Het
Mfhas1 T C 8: 36,055,764 (GRCm39) S80P probably benign Het
Mknk1 A G 4: 115,735,224 (GRCm39) E364G probably damaging Het
Msh4 C T 3: 153,577,920 (GRCm39) C458Y probably damaging Het
Mtrr A T 13: 68,712,631 (GRCm39) probably null Het
Myo1a T C 10: 127,547,007 (GRCm39) W356R probably damaging Het
Nbea A G 3: 55,631,069 (GRCm39) V2186A probably benign Het
Nfe2l3 T C 6: 51,427,992 (GRCm39) S185P probably damaging Het
Nhsl1 A C 10: 18,407,158 (GRCm39) K1397Q probably damaging Het
Nmbr C T 10: 14,645,908 (GRCm39) R261W probably damaging Het
Npy2r A G 3: 82,448,365 (GRCm39) S137P probably damaging Het
Obscn C T 11: 58,971,031 (GRCm39) G2494D probably damaging Het
Obscn T C 11: 59,013,572 (GRCm39) K1092E probably damaging Het
Oosp2 A C 19: 11,627,047 (GRCm39) I92S probably benign Het
Or5ar1 C T 2: 85,671,526 (GRCm39) C203Y probably damaging Het
Pcdh9 T C 14: 94,124,616 (GRCm39) D518G probably damaging Het
Pde11a G T 2: 76,168,137 (GRCm39) T272K possibly damaging Het
Plekha2 T A 8: 25,549,851 (GRCm39) Q162L probably null Het
Prkag2 T A 5: 25,083,732 (GRCm39) I84F probably damaging Het
Prm2 G T 16: 10,609,613 (GRCm39) probably benign Het
Prpf40a A T 2: 53,032,035 (GRCm39) C800S probably damaging Het
Prr5l A T 2: 101,559,793 (GRCm39) C158S probably benign Het
Prrt3 C A 6: 113,475,198 (GRCm39) C8F possibly damaging Het
Psg25 T C 7: 18,263,728 (GRCm39) T32A probably benign Het
Ruvbl1 T C 6: 88,462,887 (GRCm39) V337A probably benign Het
Sall1 T A 8: 89,756,969 (GRCm39) Q1045L probably damaging Het
Sec22c T C 9: 121,524,708 (GRCm39) Y25C probably damaging Het
Serpina3i A T 12: 104,234,036 (GRCm39) T335S possibly damaging Het
Setd1b TCCACCACCACCACCACCACCACCA TCCACCACCACCACCACCACCA 5: 123,290,137 (GRCm39) probably benign Het
Slc12a8 T A 16: 33,428,529 (GRCm39) I279N probably damaging Het
Slc15a1 G A 14: 121,727,319 (GRCm39) T83I probably damaging Het
Slc22a3 A G 17: 12,678,658 (GRCm39) F222S probably benign Het
Sorcs3 A T 19: 48,682,353 (GRCm39) T463S probably benign Het
Spsb4 C A 9: 96,877,931 (GRCm39) A131S probably benign Het
Sting1 T A 18: 35,871,743 (GRCm39) I170F probably damaging Het
Syne2 A G 12: 76,014,484 (GRCm39) E3225G probably damaging Het
Tchp G A 5: 114,857,634 (GRCm39) probably null Het
Tekt4 T A 17: 25,690,749 (GRCm39) D18E probably benign Het
Timm50 A G 7: 28,010,443 (GRCm39) V37A probably benign Het
Tlx2 A C 6: 83,045,741 (GRCm39) *285G probably null Het
Tshz1 C A 18: 84,031,499 (GRCm39) D970Y probably damaging Het
Ttn A T 2: 76,700,805 (GRCm39) V50E probably damaging Het
Txndc17 T A 11: 72,100,274 (GRCm39) S113T probably benign Het
Tyk2 T C 9: 21,019,305 (GRCm39) Y1039C probably damaging Het
Ubqln3 A G 7: 103,791,698 (GRCm39) S131P probably benign Het
Uncx A T 5: 139,529,837 (GRCm39) H30L possibly damaging Het
Usp25 T A 16: 76,912,303 (GRCm39) D1007E probably damaging Het
Usp47 T C 7: 111,701,038 (GRCm39) V1083A probably damaging Het
Wdr24 T A 17: 26,047,479 (GRCm39) H765Q probably damaging Het
Wrnip1 A G 13: 32,986,330 (GRCm39) D37G probably damaging Het
Xpo6 T C 7: 125,712,924 (GRCm39) T686A possibly damaging Het
Zfp941 G A 7: 140,392,124 (GRCm39) R412C probably damaging Het
Znrf2 T A 6: 54,855,425 (GRCm39) C71* probably null 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
R1547:Dock6 UTSW 9 21,725,884 (GRCm39) missense probably damaging 1.00
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
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'- ACCTTGAGTCCCCGAATCTC -3'
(R):5'- TATAGGAAGAGCTGGGCCTTTCG -3'

Sequencing Primer
(F):5'- ACCTCCTCACGGTGGCAC -3'
(R):5'- TCGATTCAAAGGGTTCAGGCC -3'
Posted On 2015-09-25