Incidental Mutation 'R7139:Dock6'
ID 553271
Institutional Source Beutler Lab
Gene Symbol Dock6
Ensembl Gene ENSMUSG00000032198
Gene Name dedicator of cytokinesis 6
Synonyms 4931431C02Rik, 2410095B20Rik, C330023D02Rik
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.482) question?
Stock # R7139 (G1)
Quality Score 225.009
Status Not validated
Chromosome 9
Chromosomal Location 21711476-21764006 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 21712572 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 2063 (Y2063C)
Ref Sequence ENSEMBL: ENSMUSP00000149156 (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: Y2032C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000034728
Gene: ENSMUSG00000032198
AA Change: Y2032C

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 probably damaging
Transcript: ENSMUST00000217336
AA Change: Y2063C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
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: 79 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2510039O18Rik A G 4: 148,026,295 (GRCm39) R272G possibly damaging Het
4930512M02Rik T A 11: 11,540,078 (GRCm39) N179Y unknown Het
4930562C15Rik A T 16: 4,668,048 (GRCm39) M480L probably benign Het
Abcd4 A G 12: 84,653,072 (GRCm39) C377R probably benign Het
Adam23 C A 1: 63,584,736 (GRCm39) D381E probably damaging Het
Angpt1 T A 15: 42,539,747 (GRCm39) Q37H probably damaging Het
Apeh A T 9: 107,969,345 (GRCm39) F260I probably damaging Het
Cadps2 T C 6: 23,410,888 (GRCm39) Y681C probably damaging Het
Ccdc162 T C 10: 41,542,717 (GRCm39) M386V possibly damaging Het
Celsr2 T C 3: 108,322,675 (GRCm39) S46G unknown Het
Cfc1 T C 1: 34,575,560 (GRCm39) L78P probably benign Het
Chd7 T C 4: 8,865,865 (GRCm39) V2724A probably benign Het
Clca3a1 A T 3: 144,461,063 (GRCm39) V196E possibly damaging Het
Cma1 T C 14: 56,181,273 (GRCm39) H44R probably damaging Het
Cnot2 T C 10: 116,330,924 (GRCm39) N394S probably benign Het
Cplx3 A T 9: 57,522,879 (GRCm39) H160Q probably benign Het
Cstf3 A T 2: 104,483,409 (GRCm39) I372F possibly damaging Het
Cyb5rl A C 4: 106,928,208 (GRCm39) I115L probably benign Het
D5Ertd579e A G 5: 36,771,320 (GRCm39) L1025P probably damaging Het
Dmtn T C 14: 70,854,867 (GRCm39) N36S probably benign Het
Dnah6 A G 6: 73,112,663 (GRCm39) V1647A probably damaging Het
Dst T A 1: 34,338,888 (GRCm39) D5149E probably damaging Het
Fancl A G 11: 26,353,358 (GRCm39) M85V probably benign Het
Fgd2 T A 17: 29,592,229 (GRCm39) F387Y probably damaging Het
Fshr A T 17: 89,293,589 (GRCm39) I363N possibly damaging Het
Glce G T 9: 61,977,716 (GRCm39) S56* probably null Het
Gm26727 A T 2: 67,263,381 (GRCm39) S49T unknown Het
Gm36210 T A 7: 4,902,277 (GRCm39) D131V probably damaging Het
Gm5089 T C 14: 122,673,403 (GRCm39) D106G unknown Het
Gm5622 G T 14: 51,893,339 (GRCm39) E89* probably null Het
H2-Eb2 C T 17: 34,553,395 (GRCm39) R194W probably benign Het
Hivep1 A T 13: 42,313,430 (GRCm39) E1890V probably benign Het
Ighv1-53 A T 12: 115,122,441 (GRCm39) C5* probably null Het
Ighv2-5 T A 12: 113,649,219 (GRCm39) Y78F probably benign Het
Il9 C T 13: 56,628,426 (GRCm39) V88I probably benign Het
Kidins220 A G 12: 25,044,820 (GRCm39) T163A probably damaging Het
Lama4 G T 10: 38,951,491 (GRCm39) D1079Y probably damaging Het
Lrrc34 T C 3: 30,679,036 (GRCm39) I354V probably benign Het
Macroh2a2 T A 10: 61,593,674 (GRCm39) M1L unknown Het
Mpeg1 A T 19: 12,439,078 (GRCm39) T179S probably benign Het
Mrgpra2a A T 7: 47,076,337 (GRCm39) L307H probably damaging Het
Mst1 G A 9: 107,960,027 (GRCm39) R328H probably damaging Het
Muc21 TCCTGAGGCAGTGCTGGATACAGGGGTGGTTGGGGTGGGTGAAGAGCCTGAGGCAGTGCTGGAT TCCTGAGGCAGTGCTGGAT 17: 35,933,525 (GRCm39) probably benign Het
Nav3 C A 10: 109,689,338 (GRCm39) S313I probably benign Het
Nmt2 T G 2: 3,285,352 (GRCm39) S7A probably benign Het
Nsmce1 T C 7: 125,068,254 (GRCm39) S197G probably benign Het
Ociad2 A G 5: 73,493,218 (GRCm39) V4A probably benign Het
Or56a41 G T 7: 104,742,005 (GRCm39) T7K probably benign Het
Osmr T C 15: 6,850,569 (GRCm39) D679G possibly damaging Het
Pappa T A 4: 65,107,687 (GRCm39) F699L probably benign Het
Parp8 T A 13: 117,161,802 (GRCm39) M40L probably benign Het
Pcyox1 A T 6: 86,371,519 (GRCm39) N122K possibly damaging Het
Pkd1l1 T C 11: 8,840,737 (GRCm39) S1224G Het
Pkd1l3 T A 8: 110,362,972 (GRCm39) S1088T probably damaging Het
Prrt1 T C 17: 34,850,051 (GRCm39) V155A probably benign Het
Rbm6 A C 9: 107,730,410 (GRCm39) D79E probably damaging Het
Sec31b A T 19: 44,507,375 (GRCm39) S819T probably benign Het
Slc22a27 A T 19: 7,903,912 (GRCm39) I75N probably damaging Het
Slc25a54 G A 3: 109,005,905 (GRCm39) G138R probably damaging Het
Slc6a12 T C 6: 121,342,278 (GRCm39) S612P probably benign Het
Slc7a2 A T 8: 41,368,050 (GRCm39) I605F probably benign Het
Slit2 A G 5: 48,402,025 (GRCm39) T805A probably benign Het
Strbp A T 2: 37,514,514 (GRCm39) H308Q probably benign Het
Stxbp4 G A 11: 90,497,835 (GRCm39) Q155* probably null Het
Sybu A T 15: 44,541,110 (GRCm39) N317K possibly damaging Het
Taok1 G A 11: 77,462,459 (GRCm39) S210F probably damaging Het
Tapbp A G 17: 34,139,022 (GRCm39) D72G possibly damaging Het
Thbd G T 2: 148,248,461 (GRCm39) T469K probably benign Het
Tia1 T C 6: 86,404,670 (GRCm39) Y302H possibly damaging Het
Tlr4 T C 4: 66,758,520 (GRCm39) F438L probably benign Het
Tmem235 C T 11: 117,751,723 (GRCm39) S49L probably damaging Het
Trip4 A G 9: 65,792,503 (GRCm39) probably benign Het
Trrap C A 5: 144,739,988 (GRCm39) L1137I possibly damaging Het
Vmo1 T C 11: 70,404,674 (GRCm39) E109G probably benign Het
Wdfy4 T C 14: 32,873,535 (GRCm39) Y258C Het
Wdr91 T G 6: 34,885,198 (GRCm39) N121T possibly damaging Het
Zfp39 T C 11: 58,781,385 (GRCm39) H459R probably damaging Het
Zfp936 T A 7: 42,839,715 (GRCm39) I394K possibly damaging Het
Zpr1 G A 9: 46,192,357 (GRCm39) D423N probably 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
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
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
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'- AGGATAGATGAAGTCTCATGACCC -3'
(R):5'- CATGCTGTTCCTGCCAGAAC -3'

Sequencing Primer
(F):5'- TGAAGTCTCATGACCCAGTGG -3'
(R):5'- TGACTCCCTGCTTAAATGCACAG -3'
Posted On 2019-05-15