Incidental Mutation 'R0521:Dock1'
ID 48546
Institutional Source Beutler Lab
Gene Symbol Dock1
Ensembl Gene ENSMUSG00000058325
Gene Name dedicator of cytokinesis 1
Synonyms D630004B07Rik, 9130006G06Rik, b2b3190Clo, Dock180
MMRRC Submission 038714-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0521 (G1)
Quality Score 225
Status Not validated
Chromosome 7
Chromosomal Location 134272416-134775376 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 134745507 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 1463 (I1463N)
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 benign
Transcript: ENSMUST00000084488
AA Change: I1463N

PolyPhen 2 Score 0.209 (Sensitivity: 0.92; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000081531
Gene: ENSMUSG00000058325
AA Change: I1463N

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
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.4%
  • 10x: 96.5%
  • 20x: 93.3%
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 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: 89 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl3 A T 4: 144,182,464 (GRCm39) S335T probably damaging Het
Abcb1b G A 5: 8,914,238 (GRCm39) A1203T probably damaging Het
Acsbg3 T A 17: 57,192,169 (GRCm39) Y577* probably null Het
Agt C A 8: 125,283,839 (GRCm39) E427* probably null Het
Angel1 G A 12: 86,769,681 (GRCm39) S193F probably benign Het
Ankrd16 T C 2: 11,794,692 (GRCm39) V359A probably benign Het
Ankrd33b T C 15: 31,367,432 (GRCm39) D36G probably damaging Het
Ano8 A T 8: 71,931,902 (GRCm39) C766S probably benign Het
Asic1 C T 15: 99,596,700 (GRCm39) R499C probably damaging Het
Atpsckmt T G 15: 31,606,103 (GRCm39) S20R probably benign Het
Bank1 C T 3: 135,919,703 (GRCm39) C364Y probably damaging Het
Bmerb1 T A 16: 13,804,676 (GRCm39) S8T possibly damaging Het
Bpifa5 C A 2: 154,008,869 (GRCm39) D223E probably benign Het
Capn5 C T 7: 97,782,089 (GRCm39) R217Q probably damaging Het
Ccm2 G A 11: 6,540,886 (GRCm39) S184N probably damaging Het
Ces5a T A 8: 94,252,286 (GRCm39) D202V probably damaging Het
Clasrp A G 7: 19,322,528 (GRCm39) I284T probably benign Het
Cog7 C A 7: 121,540,392 (GRCm39) probably null Het
Col13a1 A T 10: 61,698,525 (GRCm39) M512K unknown Het
Cps1 A C 1: 67,254,723 (GRCm39) D1304A probably benign Het
Crhbp C A 13: 95,580,403 (GRCm39) probably null Het
Ctdspl2 T A 2: 121,837,368 (GRCm39) C377* probably null Het
Ctsl G A 13: 64,513,032 (GRCm39) L297F possibly damaging Het
Ddost A G 4: 138,038,046 (GRCm39) T262A probably benign Het
Ddx4 A T 13: 112,761,313 (GRCm39) probably null Het
Ddx54 A G 5: 120,764,927 (GRCm39) I769V probably benign Het
Dsg3 T A 18: 20,660,872 (GRCm39) Y404N possibly damaging Het
Epb42 T A 2: 120,859,631 (GRCm39) K186* probably null Het
Farp2 A G 1: 93,504,543 (GRCm39) probably null Het
Fbxl9 A T 8: 106,039,425 (GRCm39) L617Q probably damaging Het
Fev C A 1: 74,921,692 (GRCm39) R86L possibly damaging Het
Foxb2 G T 19: 16,849,820 (GRCm39) C395* probably null Het
Foxn3 A G 12: 99,175,765 (GRCm39) V261A probably benign Het
Fsd1 A G 17: 56,298,245 (GRCm39) D190G probably benign Het
Gm9930 A T 10: 9,410,547 (GRCm39) noncoding transcript Het
Gsdma2 A T 11: 98,545,727 (GRCm39) K260* probably null Het
Hdac7 G A 15: 97,704,380 (GRCm39) Q497* probably null Het
Hic1 G A 11: 75,057,713 (GRCm39) P392L possibly damaging Het
Hk3 C T 13: 55,162,239 (GRCm39) probably null Het
Ifna6 G T 4: 88,745,887 (GRCm39) V79F probably benign Het
Il20ra A T 10: 19,635,388 (GRCm39) Q543L probably damaging Het
Itk T A 11: 46,251,115 (GRCm39) D163V probably damaging Het
Kcnu1 T G 8: 26,400,916 (GRCm39) L688R probably damaging Het
Kdm5b T A 1: 134,545,771 (GRCm39) S977R possibly damaging Het
Kng1 G A 16: 22,879,232 (GRCm39) A45T possibly damaging Het
Map1a T G 2: 121,136,234 (GRCm39) L2350R probably damaging Het
Mdfic A G 6: 15,799,755 (GRCm39) D212G probably benign Het
Ms4a1 C A 19: 11,236,043 (GRCm39) probably null Het
Myo9a T A 9: 59,801,635 (GRCm39) F1944L probably damaging Het
Nbea A T 3: 55,915,689 (GRCm39) W928R probably damaging Het
Nfatc2ip T G 7: 125,995,751 (GRCm39) D46A possibly damaging Het
Ngly1 C T 14: 16,290,774 (GRCm38) Q419* probably null Het
Nsd2 T A 5: 34,000,682 (GRCm39) N66K probably damaging Het
Nsmce4a T C 7: 130,138,732 (GRCm39) H304R probably damaging Het
Odad2 G A 18: 7,222,676 (GRCm39) P531L possibly damaging Het
Or10a2 T A 7: 106,673,965 (GRCm39) L310Q possibly damaging Het
Or2y11 C T 11: 49,443,291 (GRCm39) T239M probably damaging Het
Or4a2 T C 2: 89,248,544 (GRCm39) Y71C probably damaging Het
Or51v8 T A 7: 103,319,696 (GRCm39) I181F possibly damaging Het
Or7e168 G A 9: 19,720,156 (GRCm39) V181I probably benign Het
Or8c20 A C 9: 38,260,499 (GRCm39) N40T probably damaging Het
Or8h9 C T 2: 86,789,190 (GRCm39) G204D probably damaging Het
Peg3 T C 7: 6,714,427 (GRCm39) E265G probably damaging Het
Pkd1 A G 17: 24,814,193 (GRCm39) S4188G probably benign Het
Pramel32 A T 4: 88,547,559 (GRCm39) N37K probably damaging Het
R3hdm1 G A 1: 128,121,440 (GRCm39) V315I probably benign Het
Rab24 A T 13: 55,468,738 (GRCm39) probably null Het
Rap1gap2 A T 11: 74,332,592 (GRCm39) M71K probably damaging Het
Rergl T G 6: 139,473,524 (GRCm39) K42T probably damaging Het
Septin5 T C 16: 18,443,647 (GRCm39) T92A probably benign Het
Setdb1 A G 3: 95,246,140 (GRCm39) V595A probably benign Het
Slc17a8 A G 10: 89,412,192 (GRCm39) S414P probably benign Het
Thnsl2 A T 6: 71,111,243 (GRCm39) D208E probably damaging Het
Tie1 A C 4: 118,333,343 (GRCm39) I841R probably damaging Het
Tll1 T G 8: 64,551,505 (GRCm39) D292A probably damaging Het
Tnfaip8l1 A T 17: 56,478,727 (GRCm39) T6S probably damaging Het
Trim17 T A 11: 58,859,320 (GRCm39) V178E probably damaging Het
Ttc27 A T 17: 75,163,544 (GRCm39) R717S possibly damaging Het
Upk2 G T 9: 44,365,418 (GRCm39) P50Q probably damaging Het
Usp9y A T Y: 1,307,880 (GRCm39) C2319S probably benign Het
Vmn2r100 A T 17: 19,742,178 (GRCm39) D184V probably damaging Het
Vmn2r9 C A 5: 108,996,154 (GRCm39) G165* probably null Het
Xkr6 A T 14: 64,056,871 (GRCm39) I261F probably benign Het
Xpnpep3 T G 15: 81,311,693 (GRCm39) I133S possibly damaging Het
Yipf1 A G 4: 107,193,387 (GRCm39) Y91C probably benign Het
Zfp442 T C 2: 150,253,169 (GRCm39) D31G possibly damaging Het
Zfp628 A T 7: 4,922,939 (GRCm39) Q387L probably damaging Het
Zfp804a C T 2: 82,089,761 (GRCm39) Q1197* probably null Het
Zic2 CCCACCACCACCATCACCACCACCACC CCCACCATCACCACCACCACC 14: 122,713,776 (GRCm39) probably benign 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
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
R1401:Dock1 UTSW 7 134,735,665 (GRCm39) nonsense probably null
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'- GGGATTTAGGCAACCCCTGACAAC -3'
(R):5'- AACTGAAGGGCCTGTAGCATGTAAC -3'

Sequencing Primer
(F):5'- TGTCGAGTAGAACATGGCTCC -3'
(R):5'- TGTAGCATGTAACAGGCCATAC -3'
Posted On 2013-06-12