Incidental Mutation 'IGL02311:Dock6'
ID 287808
Institutional Source Australian Phenomics Network (link to record)
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 # IGL02311
Quality Score
Status
Chromosome 9
Chromosomal Location 21711476-21764006 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 21755624 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 200 (D200G)
Ref Sequence ENSEMBL: ENSMUSP00000034728 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034728] [ENSMUST00000217336]
AlphaFold Q8VDR9
Predicted Effect probably damaging
Transcript: ENSMUST00000034728
AA Change: D200G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000034728
Gene: ENSMUSG00000032198
AA Change: D200G

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 noncoding transcript
Transcript: ENSMUST00000213296
Predicted Effect noncoding transcript
Transcript: ENSMUST00000213775
Predicted Effect probably damaging
Transcript: ENSMUST00000217336
AA Change: D200G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000217515
Coding Region Coverage
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: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1500035N22Rik C A 5: 25,202,705 (GRCm39) probably benign Het
Adam21 T G 12: 81,607,666 (GRCm39) D32A probably benign Het
Asns A G 6: 7,676,233 (GRCm39) probably null Het
Bin3 A T 14: 70,361,666 (GRCm39) M45L probably benign Het
Cfap44 A T 16: 44,225,134 (GRCm39) probably benign Het
Cmya5 T C 13: 93,227,163 (GRCm39) T2642A probably benign Het
Dbndd2 T C 2: 164,330,622 (GRCm39) S92P possibly damaging Het
Dclre1b A C 3: 103,715,409 (GRCm39) F30V probably damaging Het
Epb41l4b C A 4: 57,076,456 (GRCm39) R335L probably damaging Het
Fscn1 T C 5: 142,957,765 (GRCm39) V304A probably benign Het
Gm7008 G A 12: 40,273,385 (GRCm39) probably benign Het
Gm8237 A G 14: 5,864,425 (GRCm38) probably null Het
Ifih1 T C 2: 62,440,847 (GRCm39) T440A probably damaging Het
Mepe C T 5: 104,485,571 (GRCm39) S237F probably damaging Het
Nr4a2 T C 2: 57,001,743 (GRCm39) I174V probably benign Het
Or2ag2 A G 7: 106,485,101 (GRCm39) Y308H probably benign Het
Or8c11 C T 9: 38,289,194 (GRCm39) Q6* probably null Het
Orc1 G T 4: 108,457,171 (GRCm39) V404L probably benign Het
Pcsk5 G T 19: 17,410,784 (GRCm39) Y1869* probably null Het
Phf21b A G 15: 84,678,095 (GRCm39) probably null Het
Pigg A G 5: 108,484,246 (GRCm39) T631A probably benign Het
Plxnb1 A G 9: 108,930,190 (GRCm39) N349D probably benign Het
Scaf11 T C 15: 96,316,637 (GRCm39) S976G probably benign Het
Scn8a G T 15: 100,911,164 (GRCm39) M861I probably damaging Het
Stau1 T C 2: 166,792,239 (GRCm39) N433S probably damaging Het
Synrg A G 11: 83,910,630 (GRCm39) K854R probably benign Het
Tbata T A 10: 61,015,234 (GRCm39) C150* probably null Het
Tcn2 G A 11: 3,867,692 (GRCm39) P417S probably damaging Het
Tlr1 A T 5: 65,083,290 (GRCm39) L429* probably null Het
Tpr G T 1: 150,274,404 (GRCm39) D104Y probably damaging Het
Ubash3b T C 9: 40,958,333 (GRCm39) T16A probably benign Het
Uso1 T A 5: 92,335,635 (GRCm39) S548T probably benign Het
Vps13b T A 15: 35,709,660 (GRCm39) V1869E probably benign Het
Vps18 T C 2: 119,120,732 (GRCm39) C64R probably benign Het
Zic2 C A 14: 122,713,606 (GRCm39) N173K 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
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
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
Posted On 2015-04-16