Incidental Mutation 'R7400:Dock6'
ID 574105
Institutional Source Beutler Lab
Gene Symbol Dock6
Ensembl Gene ENSMUSG00000032198
Gene Name dedicator of cytokinesis 6
Synonyms 4931431C02Rik, 2410095B20Rik, C330023D02Rik
MMRRC Submission 045482-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.482) question?
Stock # R7400 (G1)
Quality Score 225.009
Status Validated
Chromosome 9
Chromosomal Location 21711476-21764006 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 21713103 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Aspartic acid at position 1981 (A1981D)
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: A1950D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000034728
Gene: ENSMUSG00000032198
AA Change: A1950D

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 possibly damaging
Transcript: ENSMUST00000217336
AA Change: A1981D

PolyPhen 2 Score 0.621 (Sensitivity: 0.87; Specificity: 0.91)
Meta Mutation Damage Score 0.6132 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 97% (69/71)
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: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932414N04Rik T C 2: 68,496,547 (GRCm39) S118P unknown Het
Ahnak T A 19: 8,991,977 (GRCm39) D4420E probably damaging Het
Atp5mc2 C T 15: 102,573,547 (GRCm39) A90T possibly damaging Het
Batf2 A G 19: 6,221,538 (GRCm39) Y116C probably damaging Het
Cd48 G A 1: 171,523,493 (GRCm39) R112H probably benign Het
Cdh8 A T 8: 100,006,192 (GRCm39) Y132N probably damaging Het
Cfap70 A C 14: 20,458,335 (GRCm39) S793A probably benign Het
Cmip A G 8: 117,984,144 (GRCm39) probably null Het
Cyp1a2 T C 9: 57,589,223 (GRCm39) N197S probably benign Het
Diaph1 T C 18: 37,987,555 (GRCm39) D1067G probably damaging Het
Disp2 T C 2: 118,622,367 (GRCm39) L1033P probably damaging Het
Eci3 T C 13: 35,143,960 (GRCm39) D55G probably benign Het
Eea1 T A 10: 95,831,432 (GRCm39) D174E probably benign Het
Ehd2 T C 7: 15,684,581 (GRCm39) E406G possibly damaging Het
Erich3 A G 3: 154,468,214 (GRCm39) K889E Het
Fat4 C A 3: 38,942,073 (GRCm39) T322K probably damaging Het
Fitm1 A T 14: 55,814,226 (GRCm39) I241F possibly damaging Het
Fscb C A 12: 64,518,391 (GRCm39) S1025I unknown Het
Gpsm2 T A 3: 108,587,004 (GRCm39) D644V probably damaging Het
Gucy2d C A 7: 98,092,847 (GRCm39) L75M possibly damaging Het
Gvin2 T A 7: 105,551,247 (GRCm39) I602F probably benign Het
Hmcn1 T C 1: 150,550,181 (GRCm39) I2668V probably damaging Het
Hoxa7 A G 6: 52,194,033 (GRCm39) I118T possibly damaging Het
Hsp90ab1 A G 17: 45,880,210 (GRCm39) V473A probably benign Het
Ica1l T C 1: 60,081,801 (GRCm39) probably null Het
Ighv1-72 A G 12: 115,721,837 (GRCm39) S40P probably damaging Het
Inhca T A 9: 103,127,861 (GRCm39) E690V probably benign Het
Kif28 A C 1: 179,527,839 (GRCm39) W771G probably damaging Het
Klf13 G C 7: 63,587,996 (GRCm39) A100G probably benign Het
Klhl5 A G 5: 65,305,933 (GRCm39) E300G possibly damaging Het
Krt40 A G 11: 99,433,969 (GRCm39) S6P probably benign Het
Map3k13 C T 16: 21,741,072 (GRCm39) R800W probably damaging Het
Mef2d T C 3: 88,075,038 (GRCm39) L408P possibly damaging Het
Mmp10 T A 9: 7,503,301 (GRCm39) M87K probably damaging Het
Mrgprd T A 7: 144,875,643 (GRCm39) H171Q probably benign Het
Muc1 C T 3: 89,137,953 (GRCm39) T265I possibly damaging Het
Myo15b A G 11: 115,750,939 (GRCm39) N570D Het
Nfs1 T A 2: 155,968,243 (GRCm39) I408F probably damaging Het
Npdc1 G T 2: 25,296,257 (GRCm39) C48F probably damaging Het
Or2j3 A T 17: 38,616,222 (GRCm39) N43K possibly damaging Het
Or52e7 T C 7: 104,684,417 (GRCm39) I4T probably benign Het
Or52j3 T C 7: 102,836,587 (GRCm39) S260P probably damaging Het
Or9a2 A T 6: 41,748,678 (GRCm39) L185H probably damaging Het
Osbpl2 T C 2: 179,795,114 (GRCm39) M332T probably benign Het
Ostm1 T A 10: 42,574,213 (GRCm39) V302D probably damaging Het
Otof T C 5: 30,542,532 (GRCm39) D672G probably benign Het
Plekha6 A T 1: 133,201,762 (GRCm39) K392* probably null Het
Pnpla1 A T 17: 29,077,950 (GRCm39) D37V probably damaging Het
Rasgrp1 A G 2: 117,129,026 (GRCm39) S198P probably damaging Het
Reln A T 5: 22,176,932 (GRCm39) N1911K probably damaging Het
Ripply3 C A 16: 94,136,759 (GRCm39) A140E probably benign Het
Siglec1 A G 2: 130,928,015 (GRCm39) C8R possibly damaging Het
Slamf6 T C 1: 171,747,360 (GRCm39) S41P unknown Het
Slc15a5 A G 6: 138,050,055 (GRCm39) M120T probably benign Het
Slc25a20 T G 9: 108,559,172 (GRCm39) D179E possibly damaging Het
Sltm T A 9: 70,493,352 (GRCm39) V783E probably damaging Het
Smc1b C A 15: 84,953,921 (GRCm39) R1116L probably damaging Het
Smim23 A G 11: 32,774,471 (GRCm39) V16A probably benign Het
Spata20 A G 11: 94,374,226 (GRCm39) V348A probably benign Het
Spen T C 4: 141,201,052 (GRCm39) D2525G probably damaging Het
St14 A C 9: 31,019,571 (GRCm39) N83K probably benign Het
Stab1 T C 14: 30,879,341 (GRCm39) N713S probably null Het
Syne1 A T 10: 5,168,580 (GRCm39) L5267H probably benign Het
Tenm4 T C 7: 96,344,010 (GRCm39) L271P probably damaging Het
Tfap2d C T 1: 19,213,150 (GRCm39) H325Y possibly damaging Het
Trav23 A G 14: 54,215,020 (GRCm39) R78G probably benign Het
Ttc39c A T 18: 12,776,856 (GRCm39) probably benign Het
Unc79 A G 12: 103,070,889 (GRCm39) D1228G probably damaging Het
Vmn1r66 T A 7: 10,008,874 (GRCm39) H53L probably damaging Het
Vps13b A T 15: 35,379,046 (GRCm39) L53F probably damaging Het
Zfp532 C T 18: 65,771,984 (GRCm39) T834M 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
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
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
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'- CTACTGGGCGAGAAGACTCATG -3'
(R):5'- TCTCCAGCACTGATCATAGCC -3'

Sequencing Primer
(F):5'- CTCATGAGGGTCCTGGATAGCAAC -3'
(R):5'- AGCACTGATCATAGCCTGGGAC -3'
Posted On 2019-09-13