Incidental Mutation 'R1401:Dock1'
ID 160132
Institutional Source Beutler Lab
Gene Symbol Dock1
Ensembl Gene ENSMUSG00000058325
Gene Name dedicator of cytokinesis 1
Synonyms D630004B07Rik, 9130006G06Rik, b2b3190Clo, Dock180
MMRRC Submission 039463-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1401 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 134272416-134775376 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) T to A at 134735665 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Stop codon at position 1344 (Y1344*)
Ref Sequence ENSEMBL: ENSMUSP00000081531 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000084488]
AlphaFold Q8BUR4
PDB Structure Solution structure of the SH3 domain of DOCK180 [SOLUTION NMR]
Predicted Effect probably null
Transcript: ENSMUST00000084488
AA Change: Y1344*
SMART Domains Protein: ENSMUSP00000081531
Gene: ENSMUSG00000058325
AA Change: Y1344*

DomainStartEndE-ValueType
SH3 12 69 7.57e-17 SMART
Pfam:DOCK_N 72 416 1.7e-113 PFAM
Pfam:DOCK-C2 421 618 1.2e-61 PFAM
low complexity region 628 639 N/A INTRINSIC
Pfam:DHR-2 1111 1610 3.3e-102 PFAM
low complexity region 1639 1664 N/A INTRINSIC
low complexity region 1683 1701 N/A INTRINSIC
low complexity region 1756 1773 N/A INTRINSIC
low complexity region 1823 1857 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000103962
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.1%
  • 10x: 95.8%
  • 20x: 91.4%
Validation Efficiency 98% (87/89)
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 protein family. Dedicator of cytokinesis proteins act as guanine nucleotide exchange factors for small Rho family G proteins. The encoded protein regulates the small GTPase Rac, thereby influencing several biological processes, including phagocytosis and cell migration. Overexpression of this gene has also been associated with certain cancers. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2014]
PHENOTYPE: Mice homozygous for a null allele exhibit postnatal lethality associated with abnormal muscle development and failure of lungs to inflate. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 84 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930433I11Rik A T 7: 40,642,480 (GRCm39) T141S probably benign Het
Abcg1 T A 17: 31,333,132 (GRCm39) I625N possibly damaging Het
Adam33 C A 2: 130,893,391 (GRCm39) probably benign Het
Adgrl2 A T 3: 148,528,617 (GRCm39) I1185N probably damaging Het
Afp A T 5: 90,649,486 (GRCm39) probably benign Het
Aggf1 A G 13: 95,501,356 (GRCm39) V342A probably benign Het
Ankrd11 A T 8: 123,619,789 (GRCm39) S1333R probably benign Het
Arhgef11 C A 3: 87,640,776 (GRCm39) S1311* probably null Het
Atp6v1g1 T C 4: 63,466,878 (GRCm39) Y47H probably benign Het
Atp8b4 T C 2: 126,165,013 (GRCm39) probably null Het
Barx2 A G 9: 31,770,327 (GRCm39) L67P probably damaging Het
Bbs7 G A 3: 36,627,706 (GRCm39) P694S probably benign Het
Btbd10 A T 7: 112,946,266 (GRCm39) V33E probably benign Het
C2 T C 17: 35,091,457 (GRCm39) T69A possibly damaging Het
C8b T G 4: 104,641,679 (GRCm39) L205R possibly damaging Het
Cct4 T G 11: 22,944,333 (GRCm39) N72K probably damaging Het
Cd300lg C A 11: 101,944,981 (GRCm39) P353H possibly damaging Het
Cdh20 A T 1: 104,875,222 (GRCm39) I335L possibly damaging Het
Cfhr2 T A 1: 139,738,757 (GRCm39) H268L probably benign Het
Chia1 T A 3: 106,036,255 (GRCm39) D278E probably benign Het
Cntn6 A G 6: 104,781,359 (GRCm39) T482A possibly damaging Het
Cst13 T A 2: 148,665,016 (GRCm39) F4I probably benign Het
Ctsc T A 7: 87,930,706 (GRCm39) V95E probably damaging Het
Ddhd1 A T 14: 45,842,508 (GRCm39) probably null Het
Dmxl2 A T 9: 54,322,712 (GRCm39) probably null Het
Dnah5 A C 15: 28,402,059 (GRCm39) T3407P probably damaging Het
Eif4g3 T C 4: 137,933,395 (GRCm39) V1740A probably damaging Het
Epb41l5 A G 1: 119,506,634 (GRCm39) probably benign Het
Flt4 C T 11: 49,527,166 (GRCm39) probably benign Het
Fnbp1l C T 3: 122,339,955 (GRCm39) R499Q probably damaging Het
Gm10033 T C 8: 69,826,022 (GRCm39) noncoding transcript Het
Gm12790 A G 4: 101,825,396 (GRCm39) L6P probably benign Het
Gramd4 A G 15: 86,009,397 (GRCm39) D210G probably damaging Het
Hectd3 T C 4: 116,859,466 (GRCm39) S697P possibly damaging Het
Hsf4 T C 8: 106,002,235 (GRCm39) V399A probably benign Het
Hyal6 T A 6: 24,743,434 (GRCm39) C377S probably damaging Het
Myb C T 10: 21,028,844 (GRCm39) V85M probably damaging Het
Mypn A G 10: 62,988,636 (GRCm39) V463A probably damaging Het
Nav1 T A 1: 135,388,163 (GRCm39) I1144L probably benign Het
Nckap5 A G 1: 125,942,398 (GRCm39) probably benign Het
Nipbl A T 15: 8,401,657 (GRCm39) S30T probably damaging Het
Nmt1 T C 11: 102,948,307 (GRCm39) F277S probably damaging Het
Nploc4 A C 11: 120,274,115 (GRCm39) probably benign Het
Nup54 C A 5: 92,576,080 (GRCm39) R137I probably damaging Het
Or52n2b T C 7: 104,565,963 (GRCm39) Y180C probably damaging Het
Oxtr C T 6: 112,454,138 (GRCm39) R42Q probably benign Het
Pkd1l1 G T 11: 8,804,487 (GRCm39) Y1701* probably null Het
Plekhg6 T C 6: 125,340,072 (GRCm39) T763A probably damaging Het
Pmepa1 C T 2: 173,070,368 (GRCm39) probably null Het
Ppfia2 A G 10: 106,666,518 (GRCm39) E408G possibly damaging Het
Pramel13 G A 4: 144,121,658 (GRCm39) T122M probably benign Het
Prl8a2 G A 13: 27,537,979 (GRCm39) V218I possibly damaging Het
Ptpro T A 6: 137,420,592 (GRCm39) V1007D probably damaging Het
Rims4 C T 2: 163,705,849 (GRCm39) V262M possibly damaging Het
Shisal2b A T 13: 105,000,113 (GRCm39) C37S probably damaging Het
Slc13a1 A T 6: 24,118,082 (GRCm39) probably null Het
Slc17a8 T A 10: 89,427,076 (GRCm39) T342S probably damaging Het
Slc30a9 A G 5: 67,510,005 (GRCm39) E519G probably benign Het
Slc35e1 T C 8: 73,246,415 (GRCm39) probably benign Het
Slc39a5 G A 10: 128,233,610 (GRCm39) L296F probably damaging Het
Slco6b1 A C 1: 96,857,610 (GRCm39) noncoding transcript Het
Slco6d1 G A 1: 98,418,341 (GRCm39) G509D probably damaging Het
Spen A G 4: 141,199,132 (GRCm39) V3142A probably damaging Het
Spta1 T A 1: 174,050,250 (GRCm39) H1763Q probably damaging Het
Srcap T C 7: 127,159,124 (GRCm39) probably benign Het
Stard9 T C 2: 120,543,328 (GRCm39) probably benign Het
Stat4 A G 1: 52,111,106 (GRCm39) probably benign Het
Svbp T A 4: 119,053,225 (GRCm39) probably benign Het
Tm2d1 A T 4: 98,258,833 (GRCm39) probably benign Het
Trpv1 C A 11: 73,130,952 (GRCm39) probably null Het
Trrap A G 5: 144,794,232 (GRCm39) D3713G possibly damaging Het
Ubr1 T A 2: 120,786,125 (GRCm39) D165V probably benign Het
Utrn C A 10: 12,524,897 (GRCm39) M2195I probably benign Het
Vmn1r229 G A 17: 21,034,904 (GRCm39) V50I possibly damaging Het
Vmn1r44 A T 6: 89,870,632 (GRCm39) H126L probably benign Het
Vmn2r116 T C 17: 23,605,570 (GRCm39) probably benign Het
Vmn2r27 A C 6: 124,168,591 (GRCm39) Y846* probably null Het
Vmn2r84 T A 10: 130,227,859 (GRCm39) S126C possibly damaging Het
Xylb T A 9: 119,197,133 (GRCm39) probably benign Het
Zfp282 A T 6: 47,867,108 (GRCm39) K232* probably null Het
Zfp39 C A 11: 58,781,149 (GRCm39) V538L probably benign Het
Zfp560 T C 9: 20,263,149 (GRCm39) N76D possibly damaging Het
Zmym4 C T 4: 126,804,962 (GRCm39) V433I probably benign Het
Zscan5b A G 7: 6,233,425 (GRCm39) E83G probably damaging Het
Other mutations in Dock1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00484:Dock1 APN 7 134,748,260 (GRCm39) splice site probably benign
IGL01319:Dock1 APN 7 134,391,007 (GRCm39) missense probably benign
IGL01390:Dock1 APN 7 134,346,776 (GRCm39) missense possibly damaging 0.95
IGL01394:Dock1 APN 7 134,367,945 (GRCm39) missense probably benign 0.01
IGL01489:Dock1 APN 7 134,601,050 (GRCm39) splice site probably benign
IGL01505:Dock1 APN 7 134,760,239 (GRCm39) missense possibly damaging 0.91
IGL01586:Dock1 APN 7 134,355,106 (GRCm39) missense probably damaging 1.00
IGL01637:Dock1 APN 7 134,739,542 (GRCm39) critical splice acceptor site probably null
IGL01649:Dock1 APN 7 134,379,139 (GRCm39) missense probably damaging 1.00
IGL01652:Dock1 APN 7 134,379,226 (GRCm39) splice site probably benign
IGL01859:Dock1 APN 7 134,678,890 (GRCm39) missense possibly damaging 0.51
IGL02068:Dock1 APN 7 134,373,277 (GRCm39) missense probably benign 0.26
IGL02168:Dock1 APN 7 134,678,860 (GRCm39) splice site probably benign
IGL02200:Dock1 APN 7 134,346,000 (GRCm39) missense probably benign 0.01
IGL02244:Dock1 APN 7 134,379,174 (GRCm39) nonsense probably null
IGL02285:Dock1 APN 7 134,683,649 (GRCm39) critical splice donor site probably null
IGL02319:Dock1 APN 7 134,374,178 (GRCm39) missense possibly damaging 0.94
IGL02334:Dock1 APN 7 134,747,294 (GRCm39) missense probably damaging 1.00
IGL02338:Dock1 APN 7 134,734,804 (GRCm39) missense possibly damaging 0.95
IGL02351:Dock1 APN 7 134,710,548 (GRCm39) missense possibly damaging 0.51
IGL02358:Dock1 APN 7 134,710,548 (GRCm39) missense possibly damaging 0.51
IGL02607:Dock1 APN 7 134,453,242 (GRCm39) missense probably benign 0.13
IGL02638:Dock1 APN 7 134,748,209 (GRCm39) missense probably benign 0.09
IGL02724:Dock1 APN 7 134,765,082 (GRCm39) missense probably benign
IGL02820:Dock1 APN 7 134,768,944 (GRCm39) missense probably benign 0.11
IGL02950:Dock1 APN 7 134,331,753 (GRCm39) missense probably damaging 1.00
IGL02993:Dock1 APN 7 134,346,027 (GRCm39) missense probably benign
IGL03000:Dock1 APN 7 134,390,969 (GRCm39) missense probably benign 0.17
IGL03092:Dock1 APN 7 134,366,945 (GRCm39) splice site probably benign
IGL03131:Dock1 APN 7 134,475,912 (GRCm39) missense possibly damaging 0.80
IGL03136:Dock1 APN 7 134,770,118 (GRCm39) missense probably benign 0.00
IGL03210:Dock1 APN 7 134,358,668 (GRCm39) missense possibly damaging 0.62
IGL03220:Dock1 APN 7 134,710,251 (GRCm39) critical splice donor site probably null
P0028:Dock1 UTSW 7 134,601,053 (GRCm39) splice site probably benign
PIT4453001:Dock1 UTSW 7 134,754,029 (GRCm39) missense probably benign
R0003:Dock1 UTSW 7 134,331,793 (GRCm39) splice site probably benign
R0058:Dock1 UTSW 7 134,710,490 (GRCm39) missense possibly damaging 0.65
R0058:Dock1 UTSW 7 134,710,490 (GRCm39) missense possibly damaging 0.65
R0062:Dock1 UTSW 7 134,379,224 (GRCm39) splice site probably null
R0062:Dock1 UTSW 7 134,379,224 (GRCm39) splice site probably null
R0179:Dock1 UTSW 7 134,700,566 (GRCm39) missense probably damaging 0.99
R0180:Dock1 UTSW 7 134,700,566 (GRCm39) missense probably damaging 0.99
R0347:Dock1 UTSW 7 134,365,596 (GRCm39) missense probably damaging 1.00
R0399:Dock1 UTSW 7 134,765,171 (GRCm39) missense probably benign 0.00
R0457:Dock1 UTSW 7 134,739,874 (GRCm39) missense possibly damaging 0.90
R0480:Dock1 UTSW 7 134,339,447 (GRCm39) missense probably damaging 1.00
R0521:Dock1 UTSW 7 134,745,507 (GRCm39) missense probably benign 0.21
R0792:Dock1 UTSW 7 134,475,879 (GRCm39) missense probably benign 0.02
R1136:Dock1 UTSW 7 134,449,902 (GRCm39) missense possibly damaging 0.95
R1224:Dock1 UTSW 7 134,710,548 (GRCm39) missense possibly damaging 0.67
R1267:Dock1 UTSW 7 134,348,165 (GRCm39) missense probably damaging 1.00
R1373:Dock1 UTSW 7 134,768,904 (GRCm39) missense probably benign 0.01
R1454:Dock1 UTSW 7 134,453,338 (GRCm39) splice site probably benign
R1465:Dock1 UTSW 7 134,384,138 (GRCm39) missense probably benign 0.00
R1465:Dock1 UTSW 7 134,384,138 (GRCm39) missense probably benign 0.00
R1523:Dock1 UTSW 7 134,345,976 (GRCm39) missense possibly damaging 0.49
R1643:Dock1 UTSW 7 134,700,508 (GRCm39) missense probably damaging 1.00
R1659:Dock1 UTSW 7 134,390,972 (GRCm39) missense probably damaging 0.98
R1793:Dock1 UTSW 7 134,700,456 (GRCm39) splice site probably null
R1864:Dock1 UTSW 7 134,748,236 (GRCm39) missense probably benign 0.07
R1911:Dock1 UTSW 7 134,601,029 (GRCm39) missense probably damaging 1.00
R2567:Dock1 UTSW 7 134,747,213 (GRCm39) missense probably damaging 1.00
R3816:Dock1 UTSW 7 134,346,015 (GRCm39) nonsense probably null
R3971:Dock1 UTSW 7 134,348,637 (GRCm39) missense probably damaging 1.00
R4063:Dock1 UTSW 7 134,717,021 (GRCm39) missense possibly damaging 0.81
R4163:Dock1 UTSW 7 134,346,051 (GRCm39) missense possibly damaging 0.79
R4271:Dock1 UTSW 7 134,335,783 (GRCm39) missense probably damaging 0.99
R4684:Dock1 UTSW 7 134,326,138 (GRCm39) nonsense probably null
R4717:Dock1 UTSW 7 134,449,899 (GRCm39) missense probably damaging 1.00
R4725:Dock1 UTSW 7 134,346,743 (GRCm39) nonsense probably null
R4788:Dock1 UTSW 7 134,747,213 (GRCm39) missense probably damaging 0.98
R4869:Dock1 UTSW 7 134,335,800 (GRCm39) missense probably damaging 1.00
R4889:Dock1 UTSW 7 134,346,705 (GRCm39) missense probably benign 0.02
R4953:Dock1 UTSW 7 134,754,017 (GRCm39) missense probably benign 0.34
R5031:Dock1 UTSW 7 134,753,975 (GRCm39) missense probably benign 0.02
R5161:Dock1 UTSW 7 134,335,791 (GRCm39) missense possibly damaging 0.69
R5168:Dock1 UTSW 7 134,720,637 (GRCm39) missense probably damaging 1.00
R5212:Dock1 UTSW 7 134,390,923 (GRCm39) missense possibly damaging 0.68
R5648:Dock1 UTSW 7 134,348,683 (GRCm39) missense probably damaging 1.00
R5685:Dock1 UTSW 7 134,374,091 (GRCm39) missense probably benign 0.19
R5834:Dock1 UTSW 7 134,365,662 (GRCm39) missense probably damaging 1.00
R6181:Dock1 UTSW 7 134,760,251 (GRCm39) missense probably damaging 1.00
R6334:Dock1 UTSW 7 134,453,305 (GRCm39) missense probably benign 0.01
R6406:Dock1 UTSW 7 134,747,215 (GRCm39) missense probably benign 0.26
R6425:Dock1 UTSW 7 134,765,110 (GRCm39) missense possibly damaging 0.79
R6489:Dock1 UTSW 7 134,592,270 (GRCm39) missense probably damaging 0.99
R6616:Dock1 UTSW 7 134,710,221 (GRCm39) missense possibly damaging 0.85
R6706:Dock1 UTSW 7 134,735,615 (GRCm39) missense possibly damaging 0.72
R6766:Dock1 UTSW 7 134,358,522 (GRCm39) splice site probably null
R6861:Dock1 UTSW 7 134,373,207 (GRCm39) missense probably benign 0.00
R6985:Dock1 UTSW 7 134,765,132 (GRCm39) missense possibly damaging 0.95
R7259:Dock1 UTSW 7 134,384,477 (GRCm39) missense probably damaging 0.99
R7285:Dock1 UTSW 7 134,346,737 (GRCm39) missense probably benign 0.01
R7471:Dock1 UTSW 7 134,765,072 (GRCm39) missense possibly damaging 0.65
R7497:Dock1 UTSW 7 134,367,003 (GRCm39) missense probably benign
R7691:Dock1 UTSW 7 134,739,886 (GRCm39) critical splice donor site probably null
R7732:Dock1 UTSW 7 134,346,699 (GRCm39) missense probably benign 0.01
R7818:Dock1 UTSW 7 134,365,594 (GRCm39) missense probably damaging 1.00
R7918:Dock1 UTSW 7 134,747,147 (GRCm39) missense probably damaging 1.00
R7960:Dock1 UTSW 7 134,678,917 (GRCm39) missense possibly damaging 0.83
R7961:Dock1 UTSW 7 134,346,786 (GRCm39) missense possibly damaging 0.77
R7985:Dock1 UTSW 7 134,348,683 (GRCm39) missense possibly damaging 0.95
R8009:Dock1 UTSW 7 134,346,786 (GRCm39) missense possibly damaging 0.77
R8060:Dock1 UTSW 7 134,592,358 (GRCm39) splice site probably benign
R8060:Dock1 UTSW 7 134,770,132 (GRCm39) missense probably benign
R8061:Dock1 UTSW 7 134,374,052 (GRCm39) missense probably benign 0.00
R8101:Dock1 UTSW 7 134,601,017 (GRCm39) missense possibly damaging 0.89
R8405:Dock1 UTSW 7 134,379,192 (GRCm39) missense probably benign 0.04
R8508:Dock1 UTSW 7 134,384,138 (GRCm39) missense probably benign 0.00
R8803:Dock1 UTSW 7 134,475,816 (GRCm39) missense probably benign 0.28
R9007:Dock1 UTSW 7 134,500,825 (GRCm39) intron probably benign
R9026:Dock1 UTSW 7 134,720,746 (GRCm39) missense probably damaging 0.97
R9111:Dock1 UTSW 7 134,601,017 (GRCm39) missense possibly damaging 0.89
R9359:Dock1 UTSW 7 134,770,125 (GRCm39) missense probably benign
R9398:Dock1 UTSW 7 134,774,228 (GRCm39) missense probably damaging 0.99
R9403:Dock1 UTSW 7 134,770,125 (GRCm39) missense probably benign
R9408:Dock1 UTSW 7 134,717,065 (GRCm39) missense probably damaging 0.99
R9476:Dock1 UTSW 7 134,592,279 (GRCm39) missense probably benign 0.10
R9478:Dock1 UTSW 7 134,367,962 (GRCm39) missense probably damaging 1.00
R9510:Dock1 UTSW 7 134,592,279 (GRCm39) missense probably benign 0.10
R9544:Dock1 UTSW 7 134,348,186 (GRCm39) missense possibly damaging 0.71
R9605:Dock1 UTSW 7 134,384,141 (GRCm39) missense possibly damaging 0.49
R9657:Dock1 UTSW 7 134,339,429 (GRCm39) missense possibly damaging 0.58
R9767:Dock1 UTSW 7 134,342,796 (GRCm39) missense possibly damaging 0.68
X0062:Dock1 UTSW 7 134,710,180 (GRCm39) missense probably damaging 1.00
Z1088:Dock1 UTSW 7 134,406,276 (GRCm39) missense probably damaging 0.98
Z1177:Dock1 UTSW 7 134,384,129 (GRCm39) nonsense probably null
Predicted Primers PCR Primer
(F):5'- CCAAATTGAGATTCATCCAGGTCCAGG -3'
(R):5'- ACATGTGGGGCACACATAAAGACAC -3'

Sequencing Primer
(F):5'- AATGCTCTGTGCAACCCTGA -3'
(R):5'- tctgcctactgagccacc -3'
Posted On 2014-03-14