Incidental Mutation 'R5161:Dock1'
ID 396996
Institutional Source Beutler Lab
Gene Symbol Dock1
Ensembl Gene ENSMUSG00000058325
Gene Name dedicator of cytokinesis 1
Synonyms D630004B07Rik, 9130006G06Rik, b2b3190Clo, Dock180
MMRRC Submission 042743-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5161 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 134272416-134775376 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 134335791 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Threonine at position 62 (A62T)
Ref Sequence ENSEMBL: ENSMUSP00000081531 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000084488] [ENSMUST00000211593]
AlphaFold Q8BUR4
PDB Structure Solution structure of the SH3 domain of DOCK180 [SOLUTION NMR]
Predicted Effect possibly damaging
Transcript: ENSMUST00000084488
AA Change: A62T

PolyPhen 2 Score 0.688 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000081531
Gene: ENSMUSG00000058325
AA Change: A62T

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: ENSMUST00000210464
Predicted Effect noncoding transcript
Transcript: ENSMUST00000210617
Predicted Effect noncoding transcript
Transcript: ENSMUST00000211570
Predicted Effect probably benign
Transcript: ENSMUST00000211593
AA Change: A62T

PolyPhen 2 Score 0.173 (Sensitivity: 0.92; Specificity: 0.87)
Meta Mutation Damage Score 0.0767 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.2%
Validation Efficiency 98% (56/57)
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: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
0610040J01Rik G T 5: 64,055,344 (GRCm39) E27* probably null Het
4930407I10Rik G T 15: 81,947,542 (GRCm39) E480* probably null Het
Acad11 T C 9: 104,001,227 (GRCm39) I591T probably benign Het
Acsbg3 A T 17: 57,189,888 (GRCm39) I305F possibly damaging Het
Adamts13 G A 2: 26,883,020 (GRCm39) E857K probably benign Het
Atf2 A C 2: 73,660,134 (GRCm39) probably null Het
Cass4 C A 2: 172,274,244 (GRCm39) A675E probably damaging Het
Coa8 C A 12: 111,689,208 (GRCm39) Q97K possibly damaging Het
Ctsd A T 7: 141,930,881 (GRCm39) L283Q probably damaging Het
Ddrgk1 A T 2: 130,505,296 (GRCm39) M1K probably null Het
Dipk1b C T 2: 26,526,260 (GRCm39) T398M possibly damaging Het
Ehmt1 T C 2: 24,748,207 (GRCm39) D407G possibly damaging Het
Eif1ad17 T A 12: 87,978,887 (GRCm39) D90E possibly damaging Het
Eml6 A G 11: 29,974,467 (GRCm39) V37A probably damaging Het
Fam20a C T 11: 109,564,196 (GRCm39) R519Q probably benign Het
Fat1 A G 8: 45,405,549 (GRCm39) T767A probably benign Het
Fbxl8 A T 8: 105,995,538 (GRCm39) H350L possibly damaging Het
Gm10226 A C 17: 21,910,834 (GRCm39) Q23P possibly damaging Het
Gm38706 A T 6: 130,459,868 (GRCm39) noncoding transcript Het
Gpatch2l G T 12: 86,313,950 (GRCm39) R362L probably benign Het
Hyal5 A T 6: 24,891,602 (GRCm39) D472V probably benign Het
Ighv5-9-1 T C 12: 113,699,777 (GRCm39) S102G possibly damaging Het
Itpripl1 A C 2: 126,983,777 (GRCm39) L115R probably damaging Het
Itsn1 G A 16: 91,705,726 (GRCm39) C169Y possibly damaging Het
Krt88 T A 15: 101,348,349 (GRCm39) C12S probably benign Het
Macroh2a1 T C 13: 56,237,594 (GRCm39) D222G probably benign Het
Muc4 G A 16: 32,582,895 (GRCm39) V2557M probably damaging Het
Myh7b G C 2: 155,474,293 (GRCm39) R1669S possibly damaging Het
Nbeal2 G T 9: 110,458,936 (GRCm39) Q1996K probably benign Het
Obscn T C 11: 58,919,430 (GRCm39) E6205G probably damaging Het
Obscn A G 11: 58,955,136 (GRCm39) Y3926H possibly damaging Het
Or14a259 T C 7: 86,013,546 (GRCm39) probably null Het
Or5an10 A T 19: 12,276,153 (GRCm39) S114R probably damaging Het
P2ry2 A T 7: 100,648,136 (GRCm39) Y56* probably null Het
Pate10 T A 9: 35,652,884 (GRCm39) L42* probably null Het
Pde1a T C 2: 79,708,488 (GRCm39) N242S probably null Het
Pik3cg C T 12: 32,254,977 (GRCm39) E337K possibly damaging Het
Plxna2 A G 1: 194,433,712 (GRCm39) N587S probably benign Het
Pmpca T C 2: 26,285,183 (GRCm39) probably null Het
Ptpn4 C T 1: 119,635,593 (GRCm39) W370* probably null Het
Qki A T 17: 10,434,419 (GRCm39) probably null Het
Rapgef3 A G 15: 97,655,606 (GRCm39) V427A probably damaging Het
Rbbp8 T G 18: 11,855,171 (GRCm39) D465E probably damaging Het
Scn2a A G 2: 65,594,935 (GRCm39) K1928R probably benign Het
Slc5a5 A C 8: 71,341,492 (GRCm39) C346G probably damaging Het
Spata2l A G 8: 123,962,288 (GRCm39) L91P probably damaging Het
Syt3 C A 7: 44,045,439 (GRCm39) H560N possibly damaging Het
Timm23 G A 14: 31,915,882 (GRCm39) P63L probably damaging Het
Tmem191 T C 16: 17,094,743 (GRCm39) S108P possibly damaging Het
Ttc21b A G 2: 66,059,367 (GRCm39) C545R probably damaging Het
Ttc23l G T 15: 10,551,636 (GRCm39) T30K possibly damaging Het
Usp17ld A T 7: 102,899,579 (GRCm39) L451* probably null Het
Vmn1r15 T C 6: 57,235,497 (GRCm39) Y122H probably benign Het
Vxn G T 1: 9,692,902 (GRCm39) G145* probably null Het
Zfp1002 A T 2: 150,097,135 (GRCm39) I98K 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
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
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'- TACAAGCTGATTGGGAGATTCTC -3'
(R):5'- GGGTACATGAGTCTAAGTGCG -3'

Sequencing Primer
(F):5'- CTGATTGGGAGATTCTCTTTTATGCC -3'
(R):5'- GTAGGTGCTCTTAACCAATGAGCC -3'
Posted On 2016-06-21