Incidental Mutation 'R9276:Dock4'
ID 703322
Institutional Source Beutler Lab
Gene Symbol Dock4
Ensembl Gene ENSMUSG00000035954
Gene Name dedicator of cytokinesis 4
Synonyms EST N28122, 6330411N01Rik
MMRRC Submission
Accession Numbers
Essential gene? Probably non essential (E-score: 0.178) question?
Stock # R9276 (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 G at 40649405 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Methionine to Arginine at position 206 (M206R)
Ref Sequence ENSEMBL: ENSMUSP00000047387 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000037488] [ENSMUST00000220912]
AlphaFold P59764
Predicted Effect possibly damaging
Transcript: ENSMUST00000037488
AA Change: M206R

PolyPhen 2 Score 0.478 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000047387
Gene: ENSMUSG00000035954
AA Change: M206R

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: M206R

PolyPhen 2 Score 0.852 (Sensitivity: 0.83; Specificity: 0.93)
Meta Mutation Damage Score 0.2339 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.7%
Validation Efficiency 99% (83/84)
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: 84 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9630041A04Rik A T 9: 101,942,688 R102S probably benign Het
Acvr2b C T 9: 119,402,550 T2M probably benign Het
Adamtsl3 A G 7: 82,557,502 probably benign Het
Adcy7 A G 8: 88,325,386 Y894C probably damaging Het
Afdn T A 17: 13,804,008 C59S probably damaging Het
Amt C A 9: 108,301,211 T339K probably benign Het
Ankrd27 G T 7: 35,620,570 V639L probably benign Het
Anxa10 G T 8: 62,096,719 Q31K probably damaging Het
Ap1g2 T C 14: 55,102,361 T454A probably benign Het
Boll A T 1: 55,360,653 I43N possibly damaging Het
Cacna1c T C 6: 118,624,433 D1472G Het
Calcrl T C 2: 84,375,299 N16S probably benign Het
Ccdc191 C T 16: 43,943,678 Q501* probably null Het
Cchcr1 T C 17: 35,530,208 L658P probably damaging Het
Cfap46 A T 7: 139,621,291 C1919S unknown Het
Col6a3 G A 1: 90,807,681 L1356F possibly damaging Het
Dlc1 A G 8: 36,579,404 S680P possibly damaging Het
Eml5 T C 12: 98,798,801 K1630E probably damaging Het
Fam206a A T 4: 56,806,141 K184N probably benign Het
Fat1 A G 8: 45,035,477 T3432A probably damaging Het
Fcrl5 G T 3: 87,435,831 probably benign Het
Fcrla A G 1: 170,927,566 probably benign Het
Fut4 C A 9: 14,751,276 D241Y probably benign Het
Fzd6 A G 15: 39,007,567 probably benign Het
Gjc2 T C 11: 59,177,627 T10A probably damaging Het
Gle1 C T 2: 29,939,502 H203Y possibly damaging Het
Gm5565 A T 5: 146,160,107 I74N probably damaging Het
Gm5615 A T 9: 36,534,431 C75S probably damaging Het
Gnl2 T A 4: 125,053,457 I624K possibly damaging Het
Gnpat C A 8: 124,887,785 N653K probably benign Het
Gstcd A G 3: 133,071,904 L382S probably damaging Het
Ipcef1 A G 10: 6,907,936 probably benign Het
Jmjd7 T C 2: 120,030,414 V115A possibly damaging Het
Ltbp2 G A 12: 84,791,090 P1192L probably benign Het
Ltbp2 T G 12: 84,830,111 D440A possibly damaging Het
Macf1 T G 4: 123,434,708 D4744A probably damaging Het
Mapk11 T C 15: 89,145,169 D230G probably damaging Het
Mfsd6 A C 1: 52,708,355 Y450* probably null Het
Mtmr9 A G 14: 63,543,552 C30R probably damaging Het
Ncf1 G A 5: 134,221,839 Q376* probably null Het
Ncor2 C A 5: 125,036,086 R296M Het
Olfr1077-ps1 A T 2: 86,526,048 L43* probably null Het
Olfr1164 A G 2: 88,093,462 V158A probably benign Het
Olfr145 C A 9: 37,898,119 S238R probably benign Het
Olfr175-ps1 A G 16: 58,824,371 F113L probably benign Het
Olfr615 A T 7: 103,560,797 T107S probably damaging Het
Olfr983 A T 9: 40,092,336 I210K possibly damaging Het
Pcsk6 A T 7: 65,910,202 I92F probably damaging Het
Plec A G 15: 76,176,245 V3164A probably benign Het
Prss16 A G 13: 22,006,005 probably benign Het
Ptch2 T A 4: 117,110,308 H724Q probably damaging Het
Pzp A T 6: 128,522,114 F190Y probably damaging Het
Rab6a A G 7: 100,626,602 T41A probably benign Het
Rbm6 A G 9: 107,783,727 L879P probably damaging Het
Rem1 T A 2: 152,628,049 probably benign Het
Rnf17 T C 14: 56,482,097 S935P probably damaging Het
Ryr1 C A 7: 29,102,829 V789L probably damaging Het
Scgb2b3 A T 7: 31,360,103 M82K possibly damaging Het
Sgce T A 6: 4,674,585 L451F probably damaging Het
Slc25a17 A C 15: 81,323,613 V258G probably benign Het
Spidr G A 16: 15,966,848 T452I probably benign Het
Tas2r129 A G 6: 132,951,613 N171S probably benign Het
Tbc1d24 A T 17: 24,186,140 V10E probably damaging Het
Tdo2 T G 3: 81,969,578 M115L probably benign Het
Tdrd9 T C 12: 112,014,501 probably null Het
Tead1 T A 7: 112,894,394 I376N probably damaging Het
Tmem26 A G 10: 68,778,658 H301R possibly damaging Het
Tnxb A G 17: 34,710,160 T2726A possibly damaging Het
Trim43c T C 9: 88,841,913 M164T probably benign Het
Trpc1 G A 9: 95,708,235 S723L probably benign Het
Txndc15 A G 13: 55,718,101 D126G probably benign Het
Urb1 C T 16: 90,772,575 probably benign Het
Usp25 C T 16: 77,113,833 H926Y probably benign Het
Uvssa T A 5: 33,414,836 M700K possibly damaging Het
Vdac1 T A 11: 52,383,962 Y146N probably damaging Het
Vmn1r231 A T 17: 20,890,298 S118R probably benign Het
Vmn1r41 A G 6: 89,747,098 Y207C probably damaging Het
Vmn2r79 A G 7: 87,037,837 I809V probably damaging Het
Vnn1 G A 10: 23,900,896 G382R probably damaging Het
Xcr1 A T 9: 123,856,615 H27Q probably benign Het
Yeats2 T A 16: 20,157,036 N94K probably benign Het
Zfp28 C T 7: 6,394,441 T625M probably damaging Het
Zfp521 T C 18: 13,844,641 Q905R probably benign Het
Zfp804b T C 5: 6,771,398 D555G probably damaging Het
Other mutations in Dock4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00427:Dock4 APN 12 40832306 missense possibly damaging 0.48
IGL00726:Dock4 APN 12 40790068 splice site probably benign
IGL00790:Dock4 APN 12 40834391 missense probably damaging 1.00
IGL01061:Dock4 APN 12 40702969 missense probably benign 0.01
IGL01083:Dock4 APN 12 40788381 splice site probably benign
IGL01412:Dock4 APN 12 40730041 splice site probably benign
IGL01583:Dock4 APN 12 40810467 nonsense probably null
IGL01603:Dock4 APN 12 40693031 missense probably damaging 1.00
IGL01766:Dock4 APN 12 40446379 nonsense probably null
IGL02067:Dock4 APN 12 40834385 missense probably damaging 1.00
IGL02302:Dock4 APN 12 40725777 missense probably damaging 1.00
IGL02406:Dock4 APN 12 40777207 missense probably benign 0.01
IGL02547:Dock4 APN 12 40737479 missense probably benign
IGL02613:Dock4 APN 12 40810466 missense probably damaging 1.00
IGL02643:Dock4 APN 12 40668430 missense probably damaging 1.00
IGL02952:Dock4 APN 12 40710903 critical splice donor site probably null
IGL02994:Dock4 APN 12 40779160 missense probably damaging 0.99
IGL03096:Dock4 APN 12 40748001 missense probably benign 0.00
IGL03144:Dock4 APN 12 40692907 splice site probably benign
IGL03223:Dock4 APN 12 40817594 missense probably damaging 1.00
IGL03296:Dock4 APN 12 40733257 missense possibly damaging 0.84
IGL03349:Dock4 APN 12 40733310 missense probably benign 0.42
IGL03353:Dock4 APN 12 40817758 splice site probably null
BB005:Dock4 UTSW 12 40788303 missense probably damaging 0.98
BB015:Dock4 UTSW 12 40788303 missense probably damaging 0.98
R0046:Dock4 UTSW 12 40737360 splice site probably benign
R0046:Dock4 UTSW 12 40737360 splice site probably benign
R0110:Dock4 UTSW 12 40621312 splice site probably benign
R0238:Dock4 UTSW 12 40737540 missense probably damaging 0.98
R0238:Dock4 UTSW 12 40737540 missense probably damaging 0.98
R0239:Dock4 UTSW 12 40737540 missense probably damaging 0.98
R0239:Dock4 UTSW 12 40737540 missense probably damaging 0.98
R0472:Dock4 UTSW 12 40838438 intron probably benign
R0616:Dock4 UTSW 12 40704415 missense probably benign 0.31
R0647:Dock4 UTSW 12 40710884 missense probably damaging 1.00
R0706:Dock4 UTSW 12 40702923 missense probably damaging 0.98
R0791:Dock4 UTSW 12 40704481 missense probably damaging 1.00
R0940:Dock4 UTSW 12 40631627 splice site probably benign
R1087:Dock4 UTSW 12 40729938 missense probably benign 0.40
R1180:Dock4 UTSW 12 40640414 missense possibly damaging 0.52
R1194:Dock4 UTSW 12 40829616 missense probably damaging 1.00
R1463:Dock4 UTSW 12 40816325 frame shift probably null
R1468:Dock4 UTSW 12 40755810 missense probably benign 0.00
R1468:Dock4 UTSW 12 40755810 missense probably benign 0.00
R1523:Dock4 UTSW 12 40693025 missense possibly damaging 0.88
R1616:Dock4 UTSW 12 40669045 missense probably damaging 0.99
R1682:Dock4 UTSW 12 40725780 missense probably damaging 1.00
R1691:Dock4 UTSW 12 40725755 missense probably benign 0.26
R1693:Dock4 UTSW 12 40834722 missense probably benign 0.07
R1737:Dock4 UTSW 12 40807001 splice site probably null
R1802:Dock4 UTSW 12 40794598 missense possibly damaging 0.90
R1813:Dock4 UTSW 12 40636228 missense probably damaging 1.00
R1846:Dock4 UTSW 12 40733268 missense probably benign 0.00
R1959:Dock4 UTSW 12 40710798 missense probably damaging 1.00
R1975:Dock4 UTSW 12 40779642 splice site probably benign
R1986:Dock4 UTSW 12 40730063 missense probably damaging 1.00
R2105:Dock4 UTSW 12 40692989 missense probably benign 0.00
R2134:Dock4 UTSW 12 40745668 missense probably benign
R2135:Dock4 UTSW 12 40745668 missense probably benign
R2154:Dock4 UTSW 12 40820662 missense probably damaging 1.00
R2154:Dock4 UTSW 12 40844548 small insertion probably benign
R2864:Dock4 UTSW 12 40730073 missense probably damaging 1.00
R2890:Dock4 UTSW 12 40623801 critical splice acceptor site probably null
R3086:Dock4 UTSW 12 40731863 missense probably benign 0.02
R3808:Dock4 UTSW 12 40672810 missense probably damaging 0.99
R3811:Dock4 UTSW 12 40779124 missense possibly damaging 0.87
R3836:Dock4 UTSW 12 40794624 critical splice donor site probably null
R3838:Dock4 UTSW 12 40794624 critical splice donor site probably null
R4091:Dock4 UTSW 12 40844267 missense probably damaging 0.99
R4735:Dock4 UTSW 12 40631526 missense probably benign 0.31
R4752:Dock4 UTSW 12 40446365 missense probably benign 0.04
R4828:Dock4 UTSW 12 40668437 missense probably damaging 1.00
R5039:Dock4 UTSW 12 40817746 missense probably damaging 1.00
R5092:Dock4 UTSW 12 40844441 missense probably benign
R5146:Dock4 UTSW 12 40649492 splice site probably null
R5213:Dock4 UTSW 12 40676742 missense probably damaging 1.00
R5214:Dock4 UTSW 12 40704466 missense probably benign 0.00
R5270:Dock4 UTSW 12 40733271 missense probably benign 0.02
R5426:Dock4 UTSW 12 40745745 missense probably damaging 1.00
R5474:Dock4 UTSW 12 40745731 missense probably benign
R5544:Dock4 UTSW 12 40834702 missense possibly damaging 0.87
R5615:Dock4 UTSW 12 40649480 missense probably benign 0.22
R5649:Dock4 UTSW 12 40844540 missense probably benign 0.03
R5702:Dock4 UTSW 12 40737491 missense probably benign 0.02
R5846:Dock4 UTSW 12 40817736 missense probably damaging 1.00
R5847:Dock4 UTSW 12 40621251 missense probably damaging 0.97
R5895:Dock4 UTSW 12 40755813 missense probably damaging 1.00
R5997:Dock4 UTSW 12 40755834 missense probably damaging 0.99
R6011:Dock4 UTSW 12 40817757 critical splice donor site probably null
R6022:Dock4 UTSW 12 40748110 missense probably benign 0.04
R6038:Dock4 UTSW 12 40733351 splice site probably null
R6038:Dock4 UTSW 12 40733351 splice site probably null
R6179:Dock4 UTSW 12 40731869 missense probably benign 0.00
R6479:Dock4 UTSW 12 40828955 missense probably damaging 1.00
R6516:Dock4 UTSW 12 40731899 missense possibly damaging 0.94
R6748:Dock4 UTSW 12 40704466 missense probably benign 0.44
R6752:Dock4 UTSW 12 40820617 missense probably damaging 1.00
R6814:Dock4 UTSW 12 40812326 critical splice donor site probably null
R6864:Dock4 UTSW 12 40745746 missense probably damaging 1.00
R6872:Dock4 UTSW 12 40812326 critical splice donor site probably null
R6891:Dock4 UTSW 12 40779136 missense probably damaging 1.00
R6937:Dock4 UTSW 12 40834635 missense probably benign 0.01
R6950:Dock4 UTSW 12 40733314 missense possibly damaging 0.80
R7081:Dock4 UTSW 12 40621286 missense probably damaging 1.00
R7129:Dock4 UTSW 12 40828879 missense probably damaging 1.00
R7140:Dock4 UTSW 12 40636159 missense probably benign 0.06
R7241:Dock4 UTSW 12 40794860 missense probably damaging 1.00
R7378:Dock4 UTSW 12 40788244 missense possibly damaging 0.94
R7714:Dock4 UTSW 12 40725649 nonsense probably null
R7720:Dock4 UTSW 12 40806975 missense probably damaging 0.99
R7756:Dock4 UTSW 12 40710879 missense probably benign 0.02
R7758:Dock4 UTSW 12 40710879 missense probably benign 0.02
R7759:Dock4 UTSW 12 40817736 missense probably damaging 1.00
R7787:Dock4 UTSW 12 40725677 missense probably benign
R7879:Dock4 UTSW 12 40730084 missense possibly damaging 0.76
R7928:Dock4 UTSW 12 40788303 missense probably damaging 0.98
R8000:Dock4 UTSW 12 40833119 missense probably benign 0.05
R8042:Dock4 UTSW 12 40745760 missense probably benign 0.01
R8231:Dock4 UTSW 12 40702951 missense possibly damaging 0.88
R8234:Dock4 UTSW 12 40834838 splice site probably null
R8758:Dock4 UTSW 12 40788232 missense probably benign 0.12
R8871:Dock4 UTSW 12 40745731 missense probably benign
R8873:Dock4 UTSW 12 40676768 nonsense probably null
R8884:Dock4 UTSW 12 40806885 missense probably damaging 1.00
R9164:Dock4 UTSW 12 40704338 missense probably damaging 1.00
R9225:Dock4 UTSW 12 40829670 missense probably benign 0.02
R9307:Dock4 UTSW 12 40636156 missense probably damaging 1.00
R9675:Dock4 UTSW 12 40844380 small insertion probably benign
R9675:Dock4 UTSW 12 40844394 small insertion probably benign
R9676:Dock4 UTSW 12 40844380 small insertion probably benign
R9676:Dock4 UTSW 12 40844388 small insertion probably benign
R9676:Dock4 UTSW 12 40844398 small insertion probably benign
R9676:Dock4 UTSW 12 40844402 small insertion probably benign
R9678:Dock4 UTSW 12 40844380 small insertion probably benign
R9678:Dock4 UTSW 12 40844388 small insertion probably benign
R9678:Dock4 UTSW 12 40844397 small insertion probably benign
R9691:Dock4 UTSW 12 40636098 missense probably damaging 1.00
RF018:Dock4 UTSW 12 40844399 frame shift probably null
RF025:Dock4 UTSW 12 40844393 frame shift probably null
RF063:Dock4 UTSW 12 40844399 frame shift probably null
X0028:Dock4 UTSW 12 40669047 missense probably benign 0.25
Z1176:Dock4 UTSW 12 40631614 missense probably benign 0.01
Z1176:Dock4 UTSW 12 40631616 missense probably benign 0.16
Z1177:Dock4 UTSW 12 40817641 missense possibly damaging 0.88
Predicted Primers PCR Primer
(F):5'- GCAATAGCCTTGATGAAGCTAG -3'
(R):5'- TTATACAATGAACTGAGGGTGGTAG -3'

Sequencing Primer
(F):5'- TTAGATACTGAATCTAGCCTGAGGG -3'
(R):5'- TCCACATGCCATTACCTG -3'
Posted On 2022-03-25