Incidental Mutation 'R5997:Dock4'
ID 480641
Institutional Source Beutler Lab
Gene Symbol Dock4
Ensembl Gene ENSMUSG00000035954
Gene Name dedicator of cytokinesis 4
Synonyms EST N28122, 6330411N01Rik
MMRRC Submission 044176-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.176) question?
Stock # R5997 (G1)
Quality Score 225.009
Status Validated
Chromosome 12
Chromosomal Location 40445952-40846874 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to A at 40755834 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Leucine to Glutamine at position 935 (L935Q)
Ref Sequence ENSEMBL: ENSMUSP00000047387 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000037488] [ENSMUST00000220912]
AlphaFold P59764
Predicted Effect probably damaging
Transcript: ENSMUST00000037488
AA Change: L935Q

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000047387
Gene: ENSMUSG00000035954
AA Change: L935Q

DomainStartEndE-ValueType
SH3 9 66 7.29e-10 SMART
Pfam:DOCK_N 69 392 8.2e-110 PFAM
Pfam:DOCK-C2 397 583 1.9e-55 PFAM
low complexity region 829 842 N/A INTRINSIC
Pfam:DHR-2 1092 1596 5e-108 PFAM
low complexity region 1651 1664 N/A INTRINSIC
low complexity region 1681 1696 N/A INTRINSIC
low complexity region 1700 1713 N/A INTRINSIC
low complexity region 1842 1872 N/A INTRINSIC
low complexity region 1883 1896 N/A INTRINSIC
low complexity region 1940 1950 N/A INTRINSIC
low complexity region 1958 1973 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000220912
AA Change: L935Q

PolyPhen 2 Score 0.920 (Sensitivity: 0.81; Specificity: 0.94)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000222287
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 99.8%
  • 3x: 99.4%
  • 10x: 97.1%
  • 20x: 90.5%
Validation Efficiency 100% (78/78)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the dedicator of cytokinesis (DOCK) family and encodes a protein with a DHR-1 (CZH-1) domain, a DHR-2 (CZH-2) domain and an SH3 domain. This membrane-associated, cytoplasmic protein functions as a guanine nucleotide exchange factor and is involved in regulation of adherens junctions between cells. Mutations in this gene have been associated with ovarian, prostate, glioma, and colorectal cancers. Alternatively spliced variants which encode different protein isoforms have been described, but only one has been fully characterized. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous disruption of this gene leads to complete embryonic lethality. Heterozygotes display altered blood vessel lumen formation. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 78 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700061G19Rik A T 17: 56,876,373 (GRCm38) D38V probably benign Het
Abcb9 A T 5: 124,089,815 (GRCm38) V121E possibly damaging Het
Adamts20 T A 15: 94,379,747 (GRCm38) Y278F probably damaging Het
Adcy7 A T 8: 88,326,392 (GRCm38) D972V probably benign Het
Adgrf3 C A 5: 30,198,362 (GRCm38) probably null Het
Ahdc1 G T 4: 133,063,895 (GRCm38) G816C probably benign Het
Aifm3 A G 16: 17,502,130 (GRCm38) K283E probably benign Het
Akap6 T C 12: 52,937,233 (GRCm38) probably null Het
Ank1 T C 8: 23,099,662 (GRCm38) L593P probably damaging Het
Apol11b T A 15: 77,635,497 (GRCm38) T128S probably benign Het
C1qtnf7 C A 5: 43,616,085 (GRCm38) T235K probably damaging Het
Camk2a A T 18: 60,977,957 (GRCm38) I73F probably damaging Het
Cd109 G T 9: 78,705,062 (GRCm38) V1244F possibly damaging Het
Cep164 A G 9: 45,769,463 (GRCm38) L1240S possibly damaging Het
Cnga1 T A 5: 72,604,575 (GRCm38) D532V probably damaging Het
Cyp4a14 A T 4: 115,496,100 (GRCm38) L5* probably null Het
Cyp4a30b A T 4: 115,459,391 (GRCm38) K405* probably null Het
Dchs1 T C 7: 105,754,095 (GRCm38) D3080G probably benign Het
Ddx1 T C 12: 13,237,799 (GRCm38) D168G probably damaging Het
Dhx57 T G 17: 80,245,806 (GRCm38) K1231Q probably damaging Het
Dnah14 A G 1: 181,770,105 (GRCm38) N3640D probably benign Het
Dus2 A T 8: 106,046,066 (GRCm38) R269S probably benign Het
E230025N22Rik G A 18: 36,689,108 (GRCm38) R201C possibly damaging Het
Erbb3 G A 10: 128,583,185 (GRCm38) T269M probably damaging Het
Fam71f2 T A 6: 29,290,424 (GRCm38) L267* probably null Het
Fbxo43 T C 15: 36,162,093 (GRCm38) R323G probably damaging Het
Fktn A G 4: 53,735,061 (GRCm38) H233R probably benign Het
Ftsj3 A T 11: 106,252,251 (GRCm38) D412E probably damaging Het
Fzd7 A T 1: 59,484,544 (GRCm38) M529L probably benign Het
Fzr1 T A 10: 81,370,826 (GRCm38) probably null Het
Ganc T G 2: 120,430,605 (GRCm38) V257G possibly damaging Het
Gm4131 T C 14: 62,464,758 (GRCm38) K254E probably damaging Het
Gm6583 C T 5: 112,355,008 (GRCm38) V277M possibly damaging Het
Gm7347 G T 5: 26,057,249 (GRCm38) Y91* probably null Het
Gm9857 G A 3: 108,940,165 (GRCm38) probably benign Het
Grpel1 T C 5: 36,465,248 (GRCm38) S19P probably benign Het
Gtf3c4 T C 2: 28,833,711 (GRCm38) K670E possibly damaging Het
Hist1h2bf G A 13: 23,574,103 (GRCm38) probably benign Het
Hmcn1 G T 1: 150,704,173 (GRCm38) Q1938K possibly damaging Het
Hnrnpk T C 13: 58,399,157 (GRCm38) D71G probably damaging Het
Hspa4l G A 3: 40,767,979 (GRCm38) R311H probably damaging Het
Igkv3-5 T A 6: 70,663,704 (GRCm38) F56L probably benign Het
Igkv6-20 T A 6: 70,335,914 (GRCm38) T92S possibly damaging Het
Krt8 C T 15: 102,000,594 (GRCm38) V200I possibly damaging Het
Lamb2 A T 9: 108,480,388 (GRCm38) T66S possibly damaging Het
Lamp3 A G 16: 19,701,028 (GRCm38) L135S probably benign Het
Lrguk A G 6: 34,129,143 (GRCm38) Y701C probably damaging Het
Mcc G T 18: 44,449,321 (GRCm38) L588M probably damaging Het
Mcidas T A 13: 112,998,586 (GRCm38) L234Q probably damaging Het
Mtmr14 T A 6: 113,280,614 (GRCm38) L208Q probably damaging Het
Myof A G 19: 37,905,299 (GRCm38) F1139L possibly damaging Het
Nlrp14 C A 7: 107,182,496 (GRCm38) T300K probably benign Het
Olfr1474 A G 19: 13,471,506 (GRCm38) I179V probably benign Het
Olfr165 T A 16: 19,407,944 (GRCm38) H24L probably benign Het
Olfr716 A T 7: 107,147,328 (GRCm38) E4V possibly damaging Het
Olfr890 A T 9: 38,143,801 (GRCm38) Y217F probably damaging Het
Orc2 A G 1: 58,472,388 (GRCm38) I354T probably damaging Het
Pard3b G T 1: 62,076,409 (GRCm38) S140I probably damaging Het
Pcgf5 A G 19: 36,434,603 (GRCm38) D49G probably benign Het
Pcsk6 T C 7: 65,959,293 (GRCm38) F388S probably damaging Het
Prokr2 A C 2: 132,381,442 (GRCm38) I60S probably damaging Het
Rab33b A G 3: 51,484,479 (GRCm38) T50A possibly damaging Het
Rbms3 T C 9: 116,719,389 (GRCm38) D61G probably damaging Het
Rhcg T A 7: 79,600,514 (GRCm38) K274* probably null Het
Rnf112 C T 11: 61,451,022 (GRCm38) V319M possibly damaging Het
Rnf44 A T 13: 54,682,800 (GRCm38) S265T possibly damaging Het
Sf3a3 A G 4: 124,722,058 (GRCm38) D168G probably damaging Het
Sik2 A G 9: 50,895,342 (GRCm38) probably null Het
Slco1a5 T A 6: 142,253,113 (GRCm38) L275F probably benign Het
Smtnl1 T C 2: 84,815,378 (GRCm38) H383R probably damaging Het
Spns3 T G 11: 72,539,078 (GRCm38) T175P probably damaging Het
Togaram1 A G 12: 64,995,538 (GRCm38) T1174A probably benign Het
Tradd C T 8: 105,260,645 (GRCm38) E10K possibly damaging Het
Ttc7b A T 12: 100,373,560 (GRCm38) Y579N probably damaging Het
Uncx G A 5: 139,547,589 (GRCm38) G470R probably damaging Het
Vav3 T A 3: 109,501,461 (GRCm38) M177K probably damaging Het
Wfs1 A T 5: 36,967,750 (GRCm38) I599N probably damaging Het
Zfp454 G A 11: 50,873,622 (GRCm38) H217Y probably damaging Het
Other mutations in Dock4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00427:Dock4 APN 12 40,832,306 (GRCm38) missense possibly damaging 0.48
IGL00726:Dock4 APN 12 40,790,068 (GRCm38) splice site probably benign
IGL00790:Dock4 APN 12 40,834,391 (GRCm38) missense probably damaging 1.00
IGL01061:Dock4 APN 12 40,702,969 (GRCm38) missense probably benign 0.01
IGL01083:Dock4 APN 12 40,788,381 (GRCm38) splice site probably benign
IGL01412:Dock4 APN 12 40,730,041 (GRCm38) splice site probably benign
IGL01583:Dock4 APN 12 40,810,467 (GRCm38) nonsense probably null
IGL01603:Dock4 APN 12 40,693,031 (GRCm38) missense probably damaging 1.00
IGL01766:Dock4 APN 12 40,446,379 (GRCm38) nonsense probably null
IGL02067:Dock4 APN 12 40,834,385 (GRCm38) missense probably damaging 1.00
IGL02302:Dock4 APN 12 40,725,777 (GRCm38) missense probably damaging 1.00
IGL02406:Dock4 APN 12 40,777,207 (GRCm38) missense probably benign 0.01
IGL02547:Dock4 APN 12 40,737,479 (GRCm38) missense probably benign
IGL02613:Dock4 APN 12 40,810,466 (GRCm38) missense probably damaging 1.00
IGL02643:Dock4 APN 12 40,668,430 (GRCm38) missense probably damaging 1.00
IGL02952:Dock4 APN 12 40,710,903 (GRCm38) critical splice donor site probably null
IGL02994:Dock4 APN 12 40,779,160 (GRCm38) missense probably damaging 0.99
IGL03096:Dock4 APN 12 40,748,001 (GRCm38) missense probably benign 0.00
IGL03144:Dock4 APN 12 40,692,907 (GRCm38) splice site probably benign
IGL03223:Dock4 APN 12 40,817,594 (GRCm38) missense probably damaging 1.00
IGL03296:Dock4 APN 12 40,733,257 (GRCm38) missense possibly damaging 0.84
IGL03349:Dock4 APN 12 40,733,310 (GRCm38) missense probably benign 0.42
IGL03353:Dock4 APN 12 40,817,758 (GRCm38) splice site probably null
BB005:Dock4 UTSW 12 40,788,303 (GRCm38) missense probably damaging 0.98
BB015:Dock4 UTSW 12 40,788,303 (GRCm38) missense probably damaging 0.98
R0046:Dock4 UTSW 12 40,737,360 (GRCm38) splice site probably benign
R0046:Dock4 UTSW 12 40,737,360 (GRCm38) splice site probably benign
R0110:Dock4 UTSW 12 40,621,312 (GRCm38) splice site probably benign
R0238:Dock4 UTSW 12 40,737,540 (GRCm38) missense probably damaging 0.98
R0238:Dock4 UTSW 12 40,737,540 (GRCm38) missense probably damaging 0.98
R0239:Dock4 UTSW 12 40,737,540 (GRCm38) missense probably damaging 0.98
R0239:Dock4 UTSW 12 40,737,540 (GRCm38) missense probably damaging 0.98
R0472:Dock4 UTSW 12 40,838,438 (GRCm38) intron probably benign
R0616:Dock4 UTSW 12 40,704,415 (GRCm38) missense probably benign 0.31
R0647:Dock4 UTSW 12 40,710,884 (GRCm38) missense probably damaging 1.00
R0706:Dock4 UTSW 12 40,702,923 (GRCm38) missense probably damaging 0.98
R0791:Dock4 UTSW 12 40,704,481 (GRCm38) missense probably damaging 1.00
R0940:Dock4 UTSW 12 40,631,627 (GRCm38) splice site probably benign
R1087:Dock4 UTSW 12 40,729,938 (GRCm38) missense probably benign 0.40
R1180:Dock4 UTSW 12 40,640,414 (GRCm38) missense possibly damaging 0.52
R1194:Dock4 UTSW 12 40,829,616 (GRCm38) missense probably damaging 1.00
R1463:Dock4 UTSW 12 40,816,325 (GRCm38) frame shift probably null
R1468:Dock4 UTSW 12 40,755,810 (GRCm38) missense probably benign 0.00
R1468:Dock4 UTSW 12 40,755,810 (GRCm38) missense probably benign 0.00
R1523:Dock4 UTSW 12 40,693,025 (GRCm38) missense possibly damaging 0.88
R1616:Dock4 UTSW 12 40,669,045 (GRCm38) missense probably damaging 0.99
R1682:Dock4 UTSW 12 40,725,780 (GRCm38) missense probably damaging 1.00
R1691:Dock4 UTSW 12 40,725,755 (GRCm38) missense probably benign 0.26
R1693:Dock4 UTSW 12 40,834,722 (GRCm38) missense probably benign 0.07
R1737:Dock4 UTSW 12 40,807,001 (GRCm38) splice site probably null
R1802:Dock4 UTSW 12 40,794,598 (GRCm38) missense possibly damaging 0.90
R1813:Dock4 UTSW 12 40,636,228 (GRCm38) missense probably damaging 1.00
R1846:Dock4 UTSW 12 40,733,268 (GRCm38) missense probably benign 0.00
R1959:Dock4 UTSW 12 40,710,798 (GRCm38) missense probably damaging 1.00
R1975:Dock4 UTSW 12 40,779,642 (GRCm38) splice site probably benign
R1986:Dock4 UTSW 12 40,730,063 (GRCm38) missense probably damaging 1.00
R2105:Dock4 UTSW 12 40,692,989 (GRCm38) missense probably benign 0.00
R2134:Dock4 UTSW 12 40,745,668 (GRCm38) missense probably benign
R2135:Dock4 UTSW 12 40,745,668 (GRCm38) missense probably benign
R2154:Dock4 UTSW 12 40,844,548 (GRCm38) small insertion probably benign
R2154:Dock4 UTSW 12 40,820,662 (GRCm38) missense probably damaging 1.00
R2864:Dock4 UTSW 12 40,730,073 (GRCm38) missense probably damaging 1.00
R2890:Dock4 UTSW 12 40,623,801 (GRCm38) critical splice acceptor site probably null
R3086:Dock4 UTSW 12 40,731,863 (GRCm38) missense probably benign 0.02
R3808:Dock4 UTSW 12 40,672,810 (GRCm38) missense probably damaging 0.99
R3811:Dock4 UTSW 12 40,779,124 (GRCm38) missense possibly damaging 0.87
R3836:Dock4 UTSW 12 40,794,624 (GRCm38) critical splice donor site probably null
R3838:Dock4 UTSW 12 40,794,624 (GRCm38) critical splice donor site probably null
R4091:Dock4 UTSW 12 40,844,267 (GRCm38) missense probably damaging 0.99
R4735:Dock4 UTSW 12 40,631,526 (GRCm38) missense probably benign 0.31
R4752:Dock4 UTSW 12 40,446,365 (GRCm38) missense probably benign 0.04
R4828:Dock4 UTSW 12 40,668,437 (GRCm38) missense probably damaging 1.00
R5039:Dock4 UTSW 12 40,817,746 (GRCm38) missense probably damaging 1.00
R5092:Dock4 UTSW 12 40,844,441 (GRCm38) missense probably benign
R5146:Dock4 UTSW 12 40,649,492 (GRCm38) splice site probably null
R5213:Dock4 UTSW 12 40,676,742 (GRCm38) missense probably damaging 1.00
R5214:Dock4 UTSW 12 40,704,466 (GRCm38) missense probably benign 0.00
R5270:Dock4 UTSW 12 40,733,271 (GRCm38) missense probably benign 0.02
R5426:Dock4 UTSW 12 40,745,745 (GRCm38) missense probably damaging 1.00
R5474:Dock4 UTSW 12 40,745,731 (GRCm38) missense probably benign
R5544:Dock4 UTSW 12 40,834,702 (GRCm38) missense possibly damaging 0.87
R5615:Dock4 UTSW 12 40,649,480 (GRCm38) missense probably benign 0.22
R5649:Dock4 UTSW 12 40,844,540 (GRCm38) missense probably benign 0.03
R5702:Dock4 UTSW 12 40,737,491 (GRCm38) missense probably benign 0.02
R5846:Dock4 UTSW 12 40,817,736 (GRCm38) missense probably damaging 1.00
R5847:Dock4 UTSW 12 40,621,251 (GRCm38) missense probably damaging 0.97
R5895:Dock4 UTSW 12 40,755,813 (GRCm38) missense probably damaging 1.00
R6011:Dock4 UTSW 12 40,817,757 (GRCm38) critical splice donor site probably null
R6022:Dock4 UTSW 12 40,748,110 (GRCm38) missense probably benign 0.04
R6038:Dock4 UTSW 12 40,733,351 (GRCm38) splice site probably null
R6038:Dock4 UTSW 12 40,733,351 (GRCm38) splice site probably null
R6179:Dock4 UTSW 12 40,731,869 (GRCm38) missense probably benign 0.00
R6479:Dock4 UTSW 12 40,828,955 (GRCm38) missense probably damaging 1.00
R6516:Dock4 UTSW 12 40,731,899 (GRCm38) missense possibly damaging 0.94
R6748:Dock4 UTSW 12 40,704,466 (GRCm38) missense probably benign 0.44
R6752:Dock4 UTSW 12 40,820,617 (GRCm38) missense probably damaging 1.00
R6814:Dock4 UTSW 12 40,812,326 (GRCm38) critical splice donor site probably null
R6864:Dock4 UTSW 12 40,745,746 (GRCm38) missense probably damaging 1.00
R6872:Dock4 UTSW 12 40,812,326 (GRCm38) critical splice donor site probably null
R6891:Dock4 UTSW 12 40,779,136 (GRCm38) missense probably damaging 1.00
R6937:Dock4 UTSW 12 40,834,635 (GRCm38) missense probably benign 0.01
R6950:Dock4 UTSW 12 40,733,314 (GRCm38) missense possibly damaging 0.80
R7081:Dock4 UTSW 12 40,621,286 (GRCm38) missense probably damaging 1.00
R7129:Dock4 UTSW 12 40,828,879 (GRCm38) missense probably damaging 1.00
R7140:Dock4 UTSW 12 40,636,159 (GRCm38) missense probably benign 0.06
R7241:Dock4 UTSW 12 40,794,860 (GRCm38) missense probably damaging 1.00
R7378:Dock4 UTSW 12 40,788,244 (GRCm38) missense possibly damaging 0.94
R7714:Dock4 UTSW 12 40,725,649 (GRCm38) nonsense probably null
R7720:Dock4 UTSW 12 40,806,975 (GRCm38) missense probably damaging 0.99
R7756:Dock4 UTSW 12 40,710,879 (GRCm38) missense probably benign 0.02
R7758:Dock4 UTSW 12 40,710,879 (GRCm38) missense probably benign 0.02
R7759:Dock4 UTSW 12 40,817,736 (GRCm38) missense probably damaging 1.00
R7787:Dock4 UTSW 12 40,725,677 (GRCm38) missense probably benign
R7879:Dock4 UTSW 12 40,730,084 (GRCm38) missense possibly damaging 0.76
R7928:Dock4 UTSW 12 40,788,303 (GRCm38) missense probably damaging 0.98
R8000:Dock4 UTSW 12 40,833,119 (GRCm38) missense probably benign 0.05
R8042:Dock4 UTSW 12 40,745,760 (GRCm38) missense probably benign 0.01
R8231:Dock4 UTSW 12 40,702,951 (GRCm38) missense possibly damaging 0.88
R8234:Dock4 UTSW 12 40,834,838 (GRCm38) splice site probably null
R8758:Dock4 UTSW 12 40,788,232 (GRCm38) missense probably benign 0.12
R8871:Dock4 UTSW 12 40,745,731 (GRCm38) missense probably benign
R8873:Dock4 UTSW 12 40,676,768 (GRCm38) nonsense probably null
R8884:Dock4 UTSW 12 40,806,885 (GRCm38) missense probably damaging 1.00
R9164:Dock4 UTSW 12 40,704,338 (GRCm38) missense probably damaging 1.00
R9225:Dock4 UTSW 12 40,829,670 (GRCm38) missense probably benign 0.02
R9276:Dock4 UTSW 12 40,649,405 (GRCm38) missense possibly damaging 0.48
R9307:Dock4 UTSW 12 40,636,156 (GRCm38) missense probably damaging 1.00
R9675:Dock4 UTSW 12 40,844,394 (GRCm38) small insertion probably benign
R9675:Dock4 UTSW 12 40,844,380 (GRCm38) small insertion probably benign
R9676:Dock4 UTSW 12 40,844,398 (GRCm38) small insertion probably benign
R9676:Dock4 UTSW 12 40,844,388 (GRCm38) small insertion probably benign
R9676:Dock4 UTSW 12 40,844,380 (GRCm38) small insertion probably benign
R9676:Dock4 UTSW 12 40,844,402 (GRCm38) small insertion probably benign
R9678:Dock4 UTSW 12 40,844,397 (GRCm38) small insertion probably benign
R9678:Dock4 UTSW 12 40,844,388 (GRCm38) small insertion probably benign
R9678:Dock4 UTSW 12 40,844,380 (GRCm38) small insertion probably benign
R9691:Dock4 UTSW 12 40,636,098 (GRCm38) missense probably damaging 1.00
RF018:Dock4 UTSW 12 40,844,399 (GRCm38) frame shift probably null
RF025:Dock4 UTSW 12 40,844,393 (GRCm38) frame shift probably null
RF063:Dock4 UTSW 12 40,844,399 (GRCm38) frame shift probably null
X0028:Dock4 UTSW 12 40,669,047 (GRCm38) missense probably benign 0.25
Z1176:Dock4 UTSW 12 40,631,616 (GRCm38) missense probably benign 0.16
Z1176:Dock4 UTSW 12 40,631,614 (GRCm38) missense probably benign 0.01
Z1177:Dock4 UTSW 12 40,817,641 (GRCm38) missense possibly damaging 0.88
Predicted Primers PCR Primer
(F):5'- GGGTAAACCTGGGATCATAGC -3'
(R):5'- AGACCTCCCCTGGAAACTTTTC -3'

Sequencing Primer
(F):5'- GGTAAACCTGGGATCATAGCAACTTC -3'
(R):5'- TGATGCCTTTCTCCAAAATAACAGC -3'
Posted On 2017-06-26