Incidental Mutation 'R2519:Dock6'
ID 254213
Institutional Source Beutler Lab
Gene Symbol Dock6
Ensembl Gene ENSMUSG00000032198
Gene Name dedicator of cytokinesis 6
Synonyms 4931431C02Rik, 2410095B20Rik, C330023D02Rik
MMRRC Submission 040423-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.488) question?
Stock # R2519 (G1)
Quality Score 213
Status Validated
Chromosome 9
Chromosomal Location 21711476-21764006 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 21727629 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 1367 (E1367G)
Ref Sequence ENSEMBL: ENSMUSP00000034728 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034728] [ENSMUST00000217336]
AlphaFold Q8VDR9
Predicted Effect possibly damaging
Transcript: ENSMUST00000034728
AA Change: E1367G

PolyPhen 2 Score 0.539 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000034728
Gene: ENSMUSG00000032198
AA Change: E1367G

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 unknown
Transcript: ENSMUST00000215729
AA Change: E131G
Predicted Effect possibly damaging
Transcript: ENSMUST00000217336
AA Change: E1398G

PolyPhen 2 Score 0.473 (Sensitivity: 0.89; Specificity: 0.90)
Meta Mutation Damage Score 0.2366 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.4%
Validation Efficiency 99% (72/73)
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: 77 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933408J17Rik G A 10: 93,425,450 (GRCm39) probably benign Het
Abtb3 T A 10: 85,487,475 (GRCm39) V981D probably damaging Het
Actn1 A T 12: 80,239,163 (GRCm39) H247Q probably damaging Het
Adgre1 T C 17: 57,717,956 (GRCm39) C323R probably damaging Het
Adgrf2 T A 17: 43,021,298 (GRCm39) I509F probably damaging Het
Aknad1 A T 3: 108,663,784 (GRCm39) T331S probably damaging Het
Aldh1a3 T C 7: 66,072,047 (GRCm39) D39G probably benign Het
Alms1 C A 6: 85,644,945 (GRCm39) probably benign Het
Ankhd1 T G 18: 36,711,596 (GRCm39) probably null Het
Arfgef2 T C 2: 166,723,164 (GRCm39) S1535P probably benign Het
Bicc1 T C 10: 70,766,474 (GRCm39) E916G probably damaging Het
Birc2 A T 9: 7,821,180 (GRCm39) D381E possibly damaging Het
Carnmt1 A G 19: 18,671,075 (GRCm39) I316V probably benign Het
Cdk2ap1rt A G 11: 48,716,950 (GRCm39) I76T probably damaging Het
Chd6 T A 2: 160,871,796 (GRCm39) Y213F possibly damaging Het
Coq7 A T 7: 118,109,371 (GRCm39) W226R unknown Het
Cyp2d9 G A 15: 82,338,719 (GRCm39) probably null Het
Ddx42 T A 11: 106,136,155 (GRCm39) N635K probably damaging Het
Dmtf1 T C 5: 9,179,323 (GRCm39) T292A possibly damaging Het
Dnajb8 T C 6: 88,199,857 (GRCm39) V131A probably benign Het
Dvl1 T A 4: 155,940,000 (GRCm39) Y377* probably null Het
Eif4g3 T A 4: 137,824,629 (GRCm39) F278Y probably benign Het
Fancg A T 4: 43,008,787 (GRCm39) L150H probably damaging Het
Fastkd5 T C 2: 130,458,114 (GRCm39) T159A possibly damaging Het
Fkrp G T 7: 16,544,877 (GRCm39) Y328* probably null Het
Fmo3 A T 1: 162,785,874 (GRCm39) V372D probably damaging Het
Gsta5 T G 9: 78,211,721 (GRCm39) L161R probably damaging Het
Gtf2h4 C A 17: 35,981,801 (GRCm39) G143W probably damaging Het
Hivep2 C A 10: 14,004,713 (GRCm39) T437K probably benign Het
Hmcn1 A T 1: 150,649,571 (GRCm39) Y638* probably null Het
Ighv11-2 T A 12: 114,011,912 (GRCm39) Q101L probably damaging Het
Lgalsl2 A T 7: 5,362,833 (GRCm39) I155F probably damaging Het
Lipf G T 19: 33,942,925 (GRCm39) V78L probably damaging Het
Magi3 T C 3: 103,923,081 (GRCm39) E1212G probably benign Het
Mfap5 T C 6: 122,502,948 (GRCm39) S75P probably damaging Het
Mn1 C A 5: 111,566,418 (GRCm39) H129Q possibly damaging Het
Morc3 A G 16: 93,659,427 (GRCm39) probably null Het
Mrc2 G A 11: 105,239,257 (GRCm39) probably null Het
Myo5c A G 9: 75,157,718 (GRCm39) I224V probably damaging Het
Nup58 T C 14: 60,460,808 (GRCm39) T486A probably benign Het
Or5m13b A G 2: 85,753,951 (GRCm39) Y113C probably damaging Het
Or8b46 T A 9: 38,450,281 (GRCm39) V30D probably damaging Het
Parp14 A T 16: 35,678,573 (GRCm39) L465Q possibly damaging Het
Pcare C T 17: 72,058,642 (GRCm39) S345N probably damaging Het
Plcd3 A T 11: 102,971,226 (GRCm39) I110N possibly damaging Het
Prx A G 7: 27,217,668 (GRCm39) E862G probably benign Het
Rad50 G A 11: 53,598,012 (GRCm39) probably benign Het
Rbm15 A G 3: 107,238,149 (GRCm39) S750P probably benign Het
Reln C A 5: 22,549,367 (GRCm39) A14S unknown Het
Rph3a T C 5: 121,092,485 (GRCm39) Y372C probably damaging Het
Serpine2 T A 1: 79,777,256 (GRCm39) H187L possibly damaging Het
Slc11a2 T C 15: 100,299,204 (GRCm39) D122G probably damaging Het
Slc25a32 A T 15: 38,959,450 (GRCm39) V289E probably damaging Het
Slc25a46 A T 18: 31,735,814 (GRCm39) S142T probably benign Het
Srm A G 4: 148,675,961 (GRCm39) probably null Het
Srsf5 A G 12: 80,995,870 (GRCm39) D123G probably damaging Het
Stab1 A T 14: 30,876,829 (GRCm39) C832S probably damaging Het
Stab2 A C 10: 86,770,704 (GRCm39) probably benign Het
Suds3 T C 5: 117,233,018 (GRCm39) N282S probably damaging Het
Taar9 A T 10: 23,985,152 (GRCm39) V94E probably damaging Het
Taf2 C A 15: 54,915,643 (GRCm39) A428S probably benign Het
Tbk1 G T 10: 121,393,164 (GRCm39) T462K probably benign Het
Tcaf2 T G 6: 42,606,365 (GRCm39) I530L possibly damaging Het
Tigd4 A G 3: 84,501,221 (GRCm39) Y46C probably damaging Het
Topors G T 4: 40,261,714 (GRCm39) Y523* probably null Het
Tpte T C 8: 22,823,176 (GRCm39) probably benign Het
Trpv5 T A 6: 41,651,284 (GRCm39) Q254L probably damaging Het
Trpv6 G A 6: 41,601,550 (GRCm39) Q457* probably null Het
Ush2a A T 1: 187,999,304 (GRCm39) M205L probably benign Het
Vmn1r90 A T 7: 14,295,643 (GRCm39) Y152N probably damaging Het
Vmn2r124 T A 17: 18,294,280 (GRCm39) V789D probably damaging Het
Vmn2r99 T C 17: 19,598,970 (GRCm39) I218T probably damaging Het
Vstm2b T C 7: 40,552,299 (GRCm39) V248A probably benign Het
Wnk2 T C 13: 49,224,505 (GRCm39) K1019E probably damaging Het
Zfhx4 C T 3: 5,468,418 (GRCm39) P2859S probably benign Het
Zfp229 T A 17: 21,964,568 (GRCm39) F266Y possibly damaging Het
Zfp616 T A 11: 73,975,094 (GRCm39) C454* 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
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'- TAAAGACAGACTTGCCCAGCAG -3'
(R):5'- GGAGATGGAATTGCCTGAGC -3'

Sequencing Primer
(F):5'- TAGACACAAACGGCCTGTGC -3'
(R):5'- CTGAGCAGGGGGTAGGCTAC -3'
Posted On 2014-12-04