Incidental Mutation 'IGL02244:Dock1'
ID 286094
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Dock1
Ensembl Gene ENSMUSG00000058325
Gene Name dedicator of cytokinesis 1
Synonyms D630004B07Rik, 9130006G06Rik, b2b3190Clo, Dock180
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL02244
Quality Score
Status
Chromosome 7
Chromosomal Location 134272416-134775376 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) C to T at 134379174 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Stop codon at position 634 (Q634*)
Ref Sequence ENSEMBL: ENSMUSP00000147945 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000084488] [ENSMUST00000211593]
AlphaFold Q8BUR4
Predicted Effect probably null
Transcript: ENSMUST00000084488
AA Change: Q634*
SMART Domains Protein: ENSMUSP00000081531
Gene: ENSMUSG00000058325
AA Change: Q634*

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 probably benign
Transcript: ENSMUST00000210121
Predicted Effect noncoding transcript
Transcript: ENSMUST00000210464
Predicted Effect noncoding transcript
Transcript: ENSMUST00000210617
Predicted Effect noncoding transcript
Transcript: ENSMUST00000211570
Predicted Effect probably null
Transcript: ENSMUST00000211593
AA Change: Q634*
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 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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932438H23Rik G T 16: 90,853,085 (GRCm39) T17K probably benign Het
Agbl1 T C 7: 76,416,120 (GRCm39) S714P probably damaging Het
Araf A G X: 20,719,835 (GRCm39) probably benign Het
Armc3 G A 2: 19,290,948 (GRCm39) probably null Het
Armc8 A T 9: 99,365,227 (GRCm39) D638E probably benign Het
Bpifb5 C T 2: 154,067,068 (GRCm39) T107I possibly damaging Het
Ces1e A C 8: 93,938,977 (GRCm39) probably null Het
Col4a3 C A 1: 82,647,492 (GRCm39) probably benign Het
Col4a5 A G X: 140,382,669 (GRCm39) probably benign Het
Crocc T C 4: 140,765,231 (GRCm39) H477R probably benign Het
Dgkd C A 1: 87,842,863 (GRCm39) N130K probably benign Het
Dzip3 C T 16: 48,801,351 (GRCm39) V58I probably benign Het
Fndc3a A G 14: 72,793,807 (GRCm39) probably benign Het
Glp2r C T 11: 67,612,817 (GRCm39) R379H probably damaging Het
Kctd12b T A X: 152,472,330 (GRCm39) M120L probably benign Het
Krt33b A G 11: 99,916,189 (GRCm39) V258A probably benign Het
Lpin1 T A 12: 16,591,770 (GRCm39) N819I probably damaging Het
Lurap1l T C 4: 80,871,866 (GRCm39) S120P probably damaging Het
Lysmd4 T C 7: 66,875,672 (GRCm39) S112P probably damaging Het
Myo1e A G 9: 70,274,971 (GRCm39) K708R probably benign Het
Nr3c1 T A 18: 39,554,610 (GRCm39) probably benign Het
Nup62cl G T X: 138,922,780 (GRCm39) N239K probably benign Het
Nwd1 A T 8: 73,434,210 (GRCm39) E1269V probably damaging Het
Or52e7 C T 7: 104,685,152 (GRCm39) T249M probably damaging Het
Pcdh9 A C 14: 93,564,204 (GRCm39) L1084R probably damaging Het
Plxnd1 A G 6: 115,955,218 (GRCm39) M543T probably benign Het
Prss53 T A 7: 127,487,964 (GRCm39) T173S possibly damaging Het
Reep2 C A 18: 34,973,807 (GRCm39) probably benign Het
Rp1 T C 1: 4,419,003 (GRCm39) D703G probably benign Het
Sbf2 T G 7: 110,159,502 (GRCm39) D36A probably damaging Het
Sh3kbp1 C T X: 158,586,724 (GRCm39) R99W probably damaging Het
Sis T A 3: 72,863,523 (GRCm39) R238S probably benign Het
Slc35e2 T A 4: 155,703,019 (GRCm39) V344D probably damaging Het
Specc1 G A 11: 62,019,194 (GRCm39) V678I probably benign Het
Supt6 T C 11: 78,123,623 (GRCm39) D49G possibly damaging Het
Tecpr1 G A 5: 144,146,821 (GRCm39) A515V probably benign Het
Tlr4 G A 4: 66,752,298 (GRCm39) probably null Het
Tmco5b A G 2: 113,118,619 (GRCm39) E114G probably damaging Het
Tspear A T 10: 77,688,690 (GRCm39) probably benign Het
Txlnb T A 10: 17,719,116 (GRCm39) V649E probably benign Het
Utp20 A G 10: 88,651,818 (GRCm39) probably benign Het
Virma G A 4: 11,546,031 (GRCm39) R1673Q probably damaging Het
Vmn2r70 T A 7: 85,214,211 (GRCm39) T314S probably benign Het
Zfp938 G T 10: 82,061,906 (GRCm39) T238K possibly 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
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
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
Posted On 2015-04-16