Incidental Mutation 'R1136:Dock1'
ID 95001
Institutional Source Beutler Lab
Gene Symbol Dock1
Ensembl Gene ENSMUSG00000058325
Gene Name dedicator of cytokinesis 1
Synonyms D630004B07Rik, 9130006G06Rik, b2b3190Clo, Dock180
MMRRC Submission 039209-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1136 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 134272416-134775376 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 134449902 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Aspartic acid at position 805 (V805D)
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 possibly damaging
Transcript: ENSMUST00000084488
AA Change: V805D

PolyPhen 2 Score 0.954 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000081531
Gene: ENSMUSG00000058325
AA Change: V805D

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: ENSMUST00000210617
Predicted Effect noncoding transcript
Transcript: ENSMUST00000211570
Meta Mutation Damage Score 0.8749 question?
Coding Region Coverage
  • 1x: 98.9%
  • 3x: 98.1%
  • 10x: 95.7%
  • 20x: 90.5%
Validation Efficiency 100% (52/52)
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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adcy2 C T 13: 68,878,436 (GRCm39) G401S probably damaging Het
Akap8l C T 17: 32,551,457 (GRCm39) R511H probably damaging Het
Bmp2 T C 2: 133,402,847 (GRCm39) F133L probably damaging Het
C1qtnf3 A G 15: 10,978,670 (GRCm39) E290G probably damaging Het
Ccdc180 C A 4: 45,914,589 (GRCm39) D701E probably benign Het
Chmp7 C T 14: 69,956,899 (GRCm39) M336I probably benign Het
Csmd3 A T 15: 47,539,213 (GRCm39) I1508N probably damaging Het
Dgkh T C 14: 78,862,329 (GRCm39) R80G probably damaging Het
Eef2 C CN 10: 81,014,603 (GRCm39) probably null Het
Ercc6l2 T A 13: 64,016,934 (GRCm39) V679D possibly damaging Het
Esp6 T C 17: 40,876,284 (GRCm39) Y111H probably benign Het
Focad T C 4: 88,244,417 (GRCm39) F799S unknown Het
Foxred1 C A 9: 35,116,333 (GRCm39) M438I probably benign Het
Galnt11 T G 5: 25,463,943 (GRCm39) V405G probably damaging Het
Gm4847 A G 1: 166,457,935 (GRCm39) Y473H probably damaging Het
Gpbp1l1 C T 4: 116,450,115 (GRCm39) T461M probably damaging Het
Hnrnpu A T 1: 178,158,790 (GRCm39) probably benign Het
Kmt2d A T 15: 98,755,646 (GRCm39) probably benign Het
Matr3 A G 18: 35,705,948 (GRCm39) H291R probably damaging Het
Mfsd14b C T 13: 65,243,506 (GRCm39) S46N probably benign Het
Mtch1 C T 17: 29,552,744 (GRCm39) probably null Het
Muc6 G T 7: 141,218,685 (GRCm39) T1996N possibly damaging Het
Mylk T C 16: 34,820,688 (GRCm39) I1880T probably damaging Het
N4bp2 T C 5: 65,965,815 (GRCm39) L1288P probably damaging Het
Ncf2 A T 1: 152,706,123 (GRCm39) H245L probably damaging Het
Nmd3 T A 3: 69,654,049 (GRCm39) probably benign Het
Npdc1 G T 2: 25,297,727 (GRCm39) A127S probably benign Het
Nudt3 C A 17: 27,842,080 (GRCm39) R27L probably benign Het
Nwd1 C T 8: 73,424,397 (GRCm39) probably benign Het
Pex7 T A 10: 19,764,434 (GRCm39) I170F probably benign Het
Phyhipl A G 10: 70,404,902 (GRCm39) V57A probably damaging Het
Pkhd1 G A 1: 20,593,053 (GRCm39) P1687S possibly damaging Het
Plekhj1 A T 10: 80,633,654 (GRCm39) probably null Het
Prss21 T A 17: 24,091,968 (GRCm39) L312H probably damaging Het
Samsn1 T C 16: 75,670,408 (GRCm39) I232V probably null Het
Sec63 A T 10: 42,682,542 (GRCm39) D411V probably damaging Het
Slc44a4 C T 17: 35,146,998 (GRCm39) H343Y probably damaging Het
Sucla2 C T 14: 73,798,074 (GRCm39) probably benign Het
Tedc2 T A 17: 24,435,291 (GRCm39) E366V probably damaging Het
Tedc2 C A 17: 24,435,292 (GRCm39) E366* probably null Het
Tent2 C T 13: 93,312,205 (GRCm39) probably null Het
Tmtc3 A G 10: 100,307,905 (GRCm39) probably benign Het
Trafd1 C T 5: 121,511,387 (GRCm39) R477H possibly damaging Het
Uhrf2 T A 19: 30,033,626 (GRCm39) probably benign Het
Vmn2r68 T A 7: 84,871,549 (GRCm39) D578V possibly damaging Het
Wdcp G A 12: 4,901,655 (GRCm39) V504I possibly damaging Het
Wdr93 T C 7: 79,423,196 (GRCm39) Y487H probably damaging Het
Zfp457 T C 13: 67,441,846 (GRCm39) H147R 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
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'- TGTCATTGTGGTTAAGCCTCATCAGG -3'
(R):5'- AGTCCCACCGTACTGTAAACCATTTTC -3'

Sequencing Primer
(F):5'- GCCTCATCAGGAAGAAGGTTCTC -3'
(R):5'- TGACAGGTAAAGCCTTCTCCATAG -3'
Posted On 2014-01-05