Incidental Mutation 'R1463:Dock6'
ID 250588
Institutional Source Beutler Lab
Gene Symbol Dock6
Ensembl Gene ENSMUSG00000032198
Gene Name dedicator of cytokinesis 6
Synonyms 4931431C02Rik, 2410095B20Rik, C330023D02Rik
MMRRC Submission 039517-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.482) question?
Stock # R1463 (G1)
Quality Score 62
Status Validated
Chromosome 9
Chromosomal Location 21711476-21764006 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 21743202 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Arginine at position 701 (H701R)
Ref Sequence ENSEMBL: ENSMUSP00000034728 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034728] [ENSMUST00000058777] [ENSMUST00000217336]
AlphaFold Q8VDR9
Predicted Effect probably damaging
Transcript: ENSMUST00000034728
AA Change: H701R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000034728
Gene: ENSMUSG00000032198
AA Change: H701R

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: ENSMUST00000058777
SMART Domains Protein: ENSMUSP00000058951
Gene: ENSMUSG00000047822

DomainStartEndE-ValueType
low complexity region 171 191 N/A INTRINSIC
Predicted Effect unknown
Transcript: ENSMUST00000216626
AA Change: H150R
Predicted Effect possibly damaging
Transcript: ENSMUST00000217336
AA Change: H701R

PolyPhen 2 Score 0.877 (Sensitivity: 0.83; Specificity: 0.94)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000217515
Meta Mutation Damage Score 0.3701 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.2%
  • 10x: 96.0%
  • 20x: 91.6%
Validation Efficiency 97% (97/100)
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: 100 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca5 A T 11: 110,205,384 (GRCm39) I299N probably damaging Het
Abcc8 T C 7: 45,803,936 (GRCm39) T413A probably benign Het
Actc1 G A 2: 113,880,010 (GRCm39) S201F probably damaging Het
Adam30 G A 3: 98,069,841 (GRCm39) C558Y probably damaging Het
Adcy4 T A 14: 56,016,396 (GRCm39) I352F probably damaging Het
Adgrl4 A T 3: 151,216,233 (GRCm39) D472V probably damaging Het
Afap1l2 T A 19: 56,918,583 (GRCm39) M117L probably benign Het
AI597479 T C 1: 43,152,389 (GRCm39) V229A probably damaging Het
Ascc1 T C 10: 59,898,338 (GRCm39) V267A probably benign Het
Asxl3 A G 18: 22,649,810 (GRCm39) S600G possibly damaging Het
Atg14 T C 14: 47,786,451 (GRCm39) I268V probably benign Het
Bcas1 C T 2: 170,260,584 (GRCm39) V32I probably benign Het
Cacna1c G T 6: 118,570,955 (GRCm39) D2106E probably benign Het
Cacna1i A G 15: 80,263,255 (GRCm39) H1440R possibly damaging Het
Catsper2 G A 2: 121,236,927 (GRCm39) T240M probably damaging Het
Ccn4 T A 15: 66,791,120 (GRCm39) N307K possibly damaging Het
Cd163 A G 6: 124,288,406 (GRCm39) E279G probably damaging Het
Cdx2 C T 5: 147,243,470 (GRCm39) S108N probably benign Het
Cenpf A T 1: 189,386,936 (GRCm39) N1781K probably damaging Het
Cgref1 T A 5: 31,093,338 (GRCm39) probably benign Het
Clcn4 C T 7: 7,299,763 (GRCm39) W22* probably null Het
Cntn2 A G 1: 132,448,875 (GRCm39) probably null Het
Cntn5 C T 9: 9,673,801 (GRCm39) probably null Het
Cpeb3 A G 19: 37,116,500 (GRCm39) M377T probably benign Het
Cryge T A 1: 65,087,997 (GRCm39) R135* probably null Het
Ctdsp2 C A 10: 126,829,790 (GRCm39) probably benign Het
Ctsll3 G A 13: 60,949,089 (GRCm39) probably benign Het
Cuzd1 C A 7: 130,918,371 (GRCm39) G189C probably damaging Het
Dmbt1 T A 7: 130,711,366 (GRCm39) probably null Het
Dnai4 T A 4: 102,944,615 (GRCm39) L245F possibly damaging Het
Dnajc13 A T 9: 104,056,139 (GRCm39) S1587R probably damaging Het
Dock4 GCTCAGTGTATC GC 12: 40,866,324 (GRCm39) probably null Het
Edem3 A G 1: 151,683,261 (GRCm39) T646A possibly damaging Het
Esrra A C 19: 6,889,823 (GRCm39) D160E probably benign Het
Fbn2 T C 18: 58,143,452 (GRCm39) T2868A probably benign Het
Galnt7 T A 8: 58,105,892 (GRCm39) M41L probably benign Het
Gbf1 T C 19: 46,259,984 (GRCm39) probably benign Het
Glyat A G 19: 12,625,467 (GRCm39) N63S probably damaging Het
Gm9376 A T 14: 118,504,894 (GRCm39) M109L probably benign Het
H2-M10.3 A G 17: 36,677,612 (GRCm39) V222A probably damaging Het
Ifna12 T G 4: 88,521,193 (GRCm39) D118A possibly damaging Het
Inpp5j T C 11: 3,451,147 (GRCm39) M501V probably benign Het
Itpr3 C T 17: 27,336,128 (GRCm39) probably benign Het
Ivns1abp A G 1: 151,237,291 (GRCm39) N527S probably benign Het
Kif13a T C 13: 47,083,088 (GRCm39) T4A possibly damaging Het
Kif3b T C 2: 153,172,073 (GRCm39) *748Q probably null Het
Klf8 C T X: 152,167,677 (GRCm39) Q241* probably null Het
Kras A T 6: 145,170,787 (GRCm39) probably benign Het
Lamc3 C A 2: 31,777,423 (GRCm39) T23K probably benign Het
Lrrc74b T A 16: 17,377,737 (GRCm39) H47L probably benign Het
Ly75 A G 2: 60,199,101 (GRCm39) probably null Het
Map3k21 G A 8: 126,668,876 (GRCm39) G821S probably benign Het
Mettl14 A G 3: 123,167,722 (GRCm39) probably benign Het
Mettl5 T C 2: 69,715,590 (GRCm39) probably benign Het
Mier3 A G 13: 111,848,289 (GRCm39) D301G probably damaging Het
Mipep T C 14: 61,025,595 (GRCm39) probably benign Het
Mmp21 T C 7: 133,277,588 (GRCm39) probably null Het
Msh4 A G 3: 153,563,207 (GRCm39) L723P probably damaging Het
Muc5b T C 7: 141,412,817 (GRCm39) V1921A unknown Het
Myo1e G A 9: 70,246,038 (GRCm39) E410K possibly damaging Het
Nav2 T G 7: 49,185,710 (GRCm39) I951S probably damaging Het
Npc1 G A 18: 12,324,887 (GRCm39) T1202I probably damaging Het
Or10j3 A G 1: 173,030,934 (GRCm39) K4E probably benign Het
Or2ab1 A G 11: 58,488,947 (GRCm39) R242G probably damaging Het
Or5a3 C T 19: 12,400,252 (GRCm39) T193I probably benign Het
Pacc1 T C 1: 191,060,486 (GRCm39) probably benign Het
Patl2 C T 2: 121,954,216 (GRCm39) V452M probably benign Het
Pcdh18 A G 3: 49,709,854 (GRCm39) V487A probably damaging Het
Pdzph1 C T 17: 59,239,440 (GRCm39) A963T probably damaging Het
Pkd1l1 C T 11: 8,866,302 (GRCm39) V518M probably damaging Het
Plcd3 A G 11: 102,969,199 (GRCm39) F256S probably damaging Het
Proc T C 18: 32,266,491 (GRCm39) D112G possibly damaging Het
Ptges2 T A 2: 32,290,874 (GRCm39) probably null Het
Pth2r A T 1: 65,402,436 (GRCm39) R312W probably damaging Het
Pttg1ip2 C A 5: 5,502,073 (GRCm39) probably benign Het
Rbbp6 C T 7: 122,591,676 (GRCm39) H546Y possibly damaging Het
Retreg2 A G 1: 75,123,164 (GRCm39) E364G probably damaging Het
Rxrb G A 17: 34,253,134 (GRCm39) C185Y probably damaging Het
Septin2 T A 1: 93,427,037 (GRCm39) N133K possibly damaging Het
Serpina3b T A 12: 104,104,969 (GRCm39) S382T probably benign Het
Serpinb9e T C 13: 33,439,099 (GRCm39) F175S probably benign Het
Slc19a2 C T 1: 164,084,766 (GRCm39) H219Y probably damaging Het
Slfn9 A T 11: 82,872,524 (GRCm39) D737E possibly damaging Het
Snx31 T C 15: 36,539,444 (GRCm39) E144G probably null Het
Sp2 A G 11: 96,854,282 (GRCm39) probably benign Het
Spag9 C T 11: 94,007,663 (GRCm39) L1117F probably damaging Het
Spata31e2 G T 1: 26,721,222 (GRCm39) Y1319* probably null Het
Syndig1l A T 12: 84,727,137 (GRCm39) probably benign Het
Sypl1 A T 12: 33,024,332 (GRCm39) probably benign Het
Tmem169 T C 1: 72,339,855 (GRCm39) M95T probably benign Het
Tnfrsf17 A G 16: 11,133,066 (GRCm39) Y48C possibly damaging Het
Ttn A T 2: 76,657,859 (GRCm39) probably benign Het
Uap1 G C 1: 169,977,952 (GRCm39) H366Q probably benign Het
Ulbp1 A G 10: 7,396,557 (GRCm39) probably benign Het
Urb2 T C 8: 124,757,647 (GRCm39) V1118A probably benign Het
Usp54 T C 14: 20,600,258 (GRCm39) N1493S probably benign Het
Vmn1r129 C A 7: 21,094,655 (GRCm39) V188F probably benign Het
Vmn1r226 A T 17: 20,907,994 (GRCm39) L75F probably benign Het
Yes1 T A 5: 32,809,046 (GRCm39) S137R probably benign Het
Zfp804b A G 5: 7,229,372 (GRCm39) probably benign 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
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
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'- TCGGAACGGAAAGATCCCTTCCTC -3'
(R):5'- ATGGTGTCGCAATGGCTAGTGC -3'

Sequencing Primer
(F):5'- TGTACCAGCGTGAAGAACTTATCC -3'
(R):5'- ATGGCTAGTGCCGCTGC -3'
Posted On 2014-11-14