Incidental Mutation 'R1109:Dock5'
ID 98685
Institutional Source Beutler Lab
Gene Symbol Dock5
Ensembl Gene ENSMUSG00000044447
Gene Name dedicator of cytokinesis 5
Synonyms 1110060D06Rik, rlc, lr2
MMRRC Submission 039182-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.346) question?
Stock # R1109 (G1)
Quality Score 225
Status Validated
Chromosome 14
Chromosomal Location 67989584-68170891 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 68043927 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 819 (Y819H)
Ref Sequence ENSEMBL: ENSMUSP00000036674 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000039135]
AlphaFold B2RY04
Predicted Effect possibly damaging
Transcript: ENSMUST00000039135
AA Change: Y819H

PolyPhen 2 Score 0.801 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000036674
Gene: ENSMUSG00000044447
AA Change: Y819H

DomainStartEndE-ValueType
SH3 11 68 1.45e-13 SMART
Pfam:DOCK_N 71 434 9e-110 PFAM
Pfam:DOCK-C2 439 636 1.1e-57 PFAM
low complexity region 752 764 N/A INTRINSIC
Pfam:DHR-2 1133 1635 6.4e-99 PFAM
low complexity region 1663 1692 N/A INTRINSIC
low complexity region 1815 1824 N/A INTRINSIC
Meta Mutation Damage Score 0.1955 question?
Coding Region Coverage
  • 1x: 98.9%
  • 3x: 98.0%
  • 10x: 95.3%
  • 20x: 88.9%
Validation Efficiency 100% (80/80)
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. Members of this family act as guanine nucleotide exchange factors for small Rho family G proteins. The protein encoded by this gene is thought to associate with adaptors CRK and CRKL, and function in regulation of intestinal epithelial cell spreading and migration on collagen IV. Similar proteins in mouse and zebrafish also function in myoblast fusion. [provided by RefSeq, Oct 2016]
PHENOTYPE: Mutations at this locus result in lens abnormalities involving cataracts and rupturing of the lens nucleus. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 78 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcd3 T G 3: 121,573,245 (GRCm39) E262D probably damaging Het
Abcg1 G A 17: 31,330,210 (GRCm39) A504T probably benign Het
Acot11 T C 4: 106,606,545 (GRCm39) T515A probably benign Het
Alg8 A T 7: 97,032,891 (GRCm39) probably null Het
Arhgap44 T A 11: 64,917,642 (GRCm39) H375L probably benign Het
Aspm A T 1: 139,384,496 (GRCm39) I98F probably damaging Het
Atp8b5 T C 4: 43,305,719 (GRCm39) probably benign Het
Coa3 T C 11: 101,169,611 (GRCm39) K48R probably damaging Het
Col12a1 A G 9: 79,607,005 (GRCm39) S473P probably damaging Het
Dnmt1 A T 9: 20,833,684 (GRCm39) Y451N probably damaging Het
Dtx1 G A 5: 120,848,484 (GRCm39) probably benign Het
Dus2 T A 8: 106,780,114 (GRCm39) F479I probably benign Het
Elp1 T C 4: 56,786,723 (GRCm39) T407A probably benign Het
Esrp1 T C 4: 11,365,205 (GRCm39) E262G probably damaging Het
Exoc4 A G 6: 33,418,951 (GRCm39) Y466C probably damaging Het
Fasn A G 11: 120,703,150 (GRCm39) F1625S possibly damaging Het
Fbxw25 A T 9: 109,479,128 (GRCm39) H374Q probably benign Het
Focad T C 4: 88,114,984 (GRCm39) probably benign Het
Gad2 G T 2: 22,571,406 (GRCm39) R448L probably damaging Het
Gad2 G A 2: 22,580,171 (GRCm39) probably benign Het
Galnt16 G T 12: 80,637,405 (GRCm39) E377D probably benign Het
Gcc1 A C 6: 28,419,166 (GRCm39) L389R probably damaging Het
Ggct A T 6: 54,966,554 (GRCm39) probably benign Het
Gm7052 G A 17: 22,259,133 (GRCm39) probably benign Het
Gps2 T A 11: 69,806,507 (GRCm39) H177Q possibly damaging Het
Heg1 T A 16: 33,583,961 (GRCm39) L1256Q probably damaging Het
Il36a G A 2: 24,106,602 (GRCm39) G62E probably damaging Het
Il3ra C T 14: 14,349,317 (GRCm38) R138W probably damaging Het
Itprid1 G T 6: 55,945,245 (GRCm39) K655N probably damaging Het
Kdm4b T A 17: 56,706,430 (GRCm39) I848N probably damaging Het
L3hypdh A G 12: 72,120,770 (GRCm39) V327A possibly damaging Het
Lepr G T 4: 101,628,552 (GRCm39) L552F probably damaging Het
Lpin3 T C 2: 160,740,941 (GRCm39) I449T probably damaging Het
Lrrn1 A G 6: 107,544,225 (GRCm39) K8E probably benign Het
Mex3a G T 3: 88,443,967 (GRCm39) D348Y possibly damaging Het
Mindy2 G A 9: 70,538,361 (GRCm39) R325* probably null Het
Mkrn1 A T 6: 39,376,268 (GRCm39) M382K probably damaging Het
Mroh1 G T 15: 76,330,709 (GRCm39) probably benign Het
Myo15a T A 11: 60,383,892 (GRCm39) D1646E probably damaging Het
Neu2 A G 1: 87,524,450 (GRCm39) D145G probably damaging Het
Obi1 A T 14: 104,717,200 (GRCm39) L391* probably null Het
Or10ah1-ps1 A T 5: 143,123,374 (GRCm39) N216K probably benign Het
Or11g27 T C 14: 50,771,159 (GRCm39) S97P possibly damaging Het
Or2w3b T C 11: 58,623,742 (GRCm39) Y83C probably benign Het
Plekhm2 T A 4: 141,355,295 (GRCm39) I938F probably benign Het
Pnma8a A T 7: 16,695,392 (GRCm39) K416* probably null Het
Ppid T C 3: 79,506,168 (GRCm39) S198P probably benign Het
Rabl6 G T 2: 25,477,538 (GRCm39) P304Q probably damaging Het
Rasal2 A T 1: 157,005,208 (GRCm39) probably benign Het
Ripor1 G T 8: 106,345,560 (GRCm39) probably benign Het
Rnf216 A T 5: 143,054,124 (GRCm39) L658Q probably damaging Het
Safb T A 17: 56,908,228 (GRCm39) probably benign Het
Sf3b5 T C 10: 12,884,497 (GRCm39) M44T probably benign Het
Slc26a9 A T 1: 131,686,536 (GRCm39) M419L probably benign Het
Slc38a8 T C 8: 120,209,394 (GRCm39) D393G probably benign Het
Slc6a3 A G 13: 73,705,199 (GRCm39) D230G probably benign Het
Smc1b T C 15: 84,997,016 (GRCm39) T535A probably damaging Het
Smg7 G C 1: 152,721,334 (GRCm39) P626R probably damaging Het
Smu1 C T 4: 40,755,722 (GRCm39) V48M probably benign Het
Spag17 T C 3: 99,934,667 (GRCm39) Y650H possibly damaging Het
Spata1 C T 3: 146,181,053 (GRCm39) V302I possibly damaging Het
Sptb G A 12: 76,650,377 (GRCm39) A1780V probably damaging Het
Srrm2 G A 17: 24,038,591 (GRCm39) probably benign Het
Sspo A C 6: 48,474,377 (GRCm39) N4933H probably damaging Het
Sult2a2 T C 7: 13,468,798 (GRCm39) I88T probably benign Het
Tgfa G T 6: 86,247,072 (GRCm39) probably benign Het
Thsd1 T A 8: 22,733,708 (GRCm39) C252S possibly damaging Het
Tmem102 T A 11: 69,695,630 (GRCm39) H114L probably damaging Het
Tnni3k T A 3: 154,498,414 (GRCm39) K808N possibly damaging Het
Trpm7 G T 2: 126,639,713 (GRCm39) L1628M probably benign Het
Ttn A G 2: 76,561,081 (GRCm39) Y29107H probably damaging Het
Upb1 T C 10: 75,273,999 (GRCm39) L342P probably damaging Het
Vmn2r120 T C 17: 57,832,829 (GRCm39) T117A probably benign Het
Vmn2r16 A G 5: 109,487,652 (GRCm39) D175G probably damaging Het
Vps35l A T 7: 118,374,552 (GRCm39) I351F probably damaging Het
Zfhx4 T G 3: 5,464,930 (GRCm39) M1696R possibly damaging Het
Zfp746 A G 6: 48,041,856 (GRCm39) V289A possibly damaging Het
Zfyve26 A C 12: 79,318,901 (GRCm39) F1146V probably damaging Het
Other mutations in Dock5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00504:Dock5 APN 14 68,024,338 (GRCm39) splice site probably benign
IGL00930:Dock5 APN 14 68,008,526 (GRCm39) missense probably damaging 1.00
IGL01525:Dock5 APN 14 68,043,169 (GRCm39) splice site probably benign
IGL01759:Dock5 APN 14 68,118,708 (GRCm39) nonsense probably null
IGL01941:Dock5 APN 14 68,049,681 (GRCm39) missense probably damaging 1.00
IGL02025:Dock5 APN 14 68,000,736 (GRCm39) missense probably damaging 1.00
IGL02093:Dock5 APN 14 68,076,992 (GRCm39) splice site probably benign
IGL02179:Dock5 APN 14 68,043,945 (GRCm39) splice site probably benign
IGL02208:Dock5 APN 14 68,065,899 (GRCm39) missense probably benign 0.06
IGL02605:Dock5 APN 14 68,065,887 (GRCm39) missense probably benign 0.18
IGL02608:Dock5 APN 14 68,065,888 (GRCm39) missense probably benign 0.01
IGL02938:Dock5 APN 14 67,994,667 (GRCm39) splice site probably benign
IGL02971:Dock5 APN 14 67,994,558 (GRCm39) missense probably null 1.00
IGL02983:Dock5 APN 14 68,002,119 (GRCm39) missense probably damaging 1.00
IGL03151:Dock5 APN 14 68,103,516 (GRCm39) missense probably damaging 1.00
IGL03410:Dock5 APN 14 68,083,535 (GRCm39) missense probably benign 0.04
PIT4366001:Dock5 UTSW 14 68,062,123 (GRCm39) missense possibly damaging 0.83
R0026:Dock5 UTSW 14 68,083,530 (GRCm39) missense probably benign 0.00
R0058:Dock5 UTSW 14 68,018,485 (GRCm39) missense probably benign 0.00
R0058:Dock5 UTSW 14 68,018,485 (GRCm39) missense probably benign 0.00
R0112:Dock5 UTSW 14 68,057,090 (GRCm39) missense probably benign
R0127:Dock5 UTSW 14 68,083,491 (GRCm39) missense probably benign 0.13
R0144:Dock5 UTSW 14 68,023,735 (GRCm39) missense probably benign 0.18
R0312:Dock5 UTSW 14 68,033,440 (GRCm39) missense possibly damaging 0.82
R0360:Dock5 UTSW 14 68,060,129 (GRCm39) splice site probably benign
R0364:Dock5 UTSW 14 68,060,129 (GRCm39) splice site probably benign
R0496:Dock5 UTSW 14 68,054,967 (GRCm39) missense probably damaging 1.00
R0506:Dock5 UTSW 14 68,022,241 (GRCm39) splice site probably benign
R0586:Dock5 UTSW 14 68,046,481 (GRCm39) missense probably damaging 1.00
R0597:Dock5 UTSW 14 68,022,383 (GRCm39) splice site probably null
R0625:Dock5 UTSW 14 68,078,612 (GRCm39) missense probably benign
R1221:Dock5 UTSW 14 67,996,610 (GRCm39) missense probably benign 0.00
R1278:Dock5 UTSW 14 68,077,015 (GRCm39) missense possibly damaging 0.80
R1927:Dock5 UTSW 14 68,083,511 (GRCm39) missense possibly damaging 0.60
R1944:Dock5 UTSW 14 67,994,584 (GRCm39) nonsense probably null
R1946:Dock5 UTSW 14 68,023,765 (GRCm39) missense probably damaging 1.00
R2046:Dock5 UTSW 14 68,049,591 (GRCm39) missense probably benign
R2101:Dock5 UTSW 14 68,031,459 (GRCm39) missense probably benign 0.02
R2252:Dock5 UTSW 14 68,022,261 (GRCm39) missense probably damaging 0.98
R2882:Dock5 UTSW 14 68,077,069 (GRCm39) missense probably damaging 0.99
R3110:Dock5 UTSW 14 68,095,371 (GRCm39) missense possibly damaging 0.72
R3112:Dock5 UTSW 14 68,095,371 (GRCm39) missense possibly damaging 0.72
R4236:Dock5 UTSW 14 67,993,941 (GRCm39) missense probably benign 0.02
R4242:Dock5 UTSW 14 68,065,939 (GRCm39) missense probably benign 0.19
R4244:Dock5 UTSW 14 68,012,031 (GRCm39) missense probably benign 0.41
R4646:Dock5 UTSW 14 68,080,228 (GRCm39) missense probably benign 0.01
R4793:Dock5 UTSW 14 68,037,803 (GRCm39) missense probably benign 0.26
R4841:Dock5 UTSW 14 68,055,012 (GRCm39) missense probably damaging 0.98
R4842:Dock5 UTSW 14 68,055,012 (GRCm39) missense probably damaging 0.98
R5159:Dock5 UTSW 14 68,029,738 (GRCm39) missense probably benign 0.04
R5164:Dock5 UTSW 14 68,055,110 (GRCm39) nonsense probably null
R5206:Dock5 UTSW 14 68,000,633 (GRCm39) missense probably benign 0.35
R5207:Dock5 UTSW 14 68,013,733 (GRCm39) missense probably benign 0.06
R5322:Dock5 UTSW 14 68,007,715 (GRCm39) missense probably benign 0.41
R5374:Dock5 UTSW 14 68,043,205 (GRCm39) missense possibly damaging 0.81
R5413:Dock5 UTSW 14 68,002,104 (GRCm39) missense probably damaging 1.00
R5476:Dock5 UTSW 14 68,051,456 (GRCm39) missense possibly damaging 0.92
R5504:Dock5 UTSW 14 68,040,535 (GRCm39) missense probably benign 0.01
R5677:Dock5 UTSW 14 68,015,052 (GRCm39) missense probably benign 0.00
R5773:Dock5 UTSW 14 68,033,507 (GRCm39) missense possibly damaging 0.95
R5845:Dock5 UTSW 14 68,078,550 (GRCm39) missense possibly damaging 0.82
R5957:Dock5 UTSW 14 68,095,443 (GRCm39) missense probably benign
R6154:Dock5 UTSW 14 68,097,361 (GRCm39) missense probably benign 0.03
R6268:Dock5 UTSW 14 68,027,724 (GRCm39) nonsense probably null
R6393:Dock5 UTSW 14 68,060,051 (GRCm39) missense probably benign 0.32
R6512:Dock5 UTSW 14 68,062,097 (GRCm39) missense possibly damaging 0.93
R6759:Dock5 UTSW 14 68,033,445 (GRCm39) missense probably benign 0.00
R7012:Dock5 UTSW 14 68,060,035 (GRCm39) missense probably damaging 1.00
R7061:Dock5 UTSW 14 68,007,703 (GRCm39) missense probably damaging 0.96
R7196:Dock5 UTSW 14 67,993,919 (GRCm39) missense probably damaging 1.00
R7200:Dock5 UTSW 14 68,009,151 (GRCm39) nonsense probably null
R7311:Dock5 UTSW 14 68,065,951 (GRCm39) missense probably benign 0.25
R7359:Dock5 UTSW 14 68,003,337 (GRCm39) missense probably benign 0.10
R7422:Dock5 UTSW 14 68,046,479 (GRCm39) missense probably benign 0.01
R7588:Dock5 UTSW 14 68,000,607 (GRCm39) critical splice donor site probably null
R7637:Dock5 UTSW 14 68,023,789 (GRCm39) missense possibly damaging 0.95
R7709:Dock5 UTSW 14 68,033,454 (GRCm39) missense probably benign 0.44
R7763:Dock5 UTSW 14 68,058,776 (GRCm39) missense probably damaging 0.97
R8044:Dock5 UTSW 14 68,062,141 (GRCm39) missense probably damaging 1.00
R8076:Dock5 UTSW 14 68,040,426 (GRCm39) splice site probably null
R8168:Dock5 UTSW 14 68,007,646 (GRCm39) splice site probably null
R8353:Dock5 UTSW 14 68,054,957 (GRCm39) splice site probably null
R8480:Dock5 UTSW 14 68,073,859 (GRCm39) missense probably benign 0.32
R8535:Dock5 UTSW 14 68,031,425 (GRCm39) missense probably benign 0.19
R8708:Dock5 UTSW 14 68,004,820 (GRCm39) missense probably benign 0.02
R8732:Dock5 UTSW 14 68,083,449 (GRCm39) missense possibly damaging 0.85
R8888:Dock5 UTSW 14 68,055,112 (GRCm39) missense possibly damaging 0.95
R8895:Dock5 UTSW 14 68,055,112 (GRCm39) missense possibly damaging 0.95
R8936:Dock5 UTSW 14 68,083,439 (GRCm39) nonsense probably null
R8962:Dock5 UTSW 14 67,994,640 (GRCm39) missense probably benign
R8972:Dock5 UTSW 14 68,013,749 (GRCm39) missense probably damaging 1.00
R9244:Dock5 UTSW 14 67,996,563 (GRCm39) missense probably damaging 0.99
R9345:Dock5 UTSW 14 68,060,071 (GRCm39) missense possibly damaging 0.74
R9679:Dock5 UTSW 14 68,018,450 (GRCm39) missense probably damaging 1.00
X0023:Dock5 UTSW 14 68,008,537 (GRCm39) missense probably benign 0.15
Z1177:Dock5 UTSW 14 68,051,382 (GRCm39) missense possibly damaging 0.90
Predicted Primers PCR Primer
(F):5'- GCTGCTTCAGCTTCTGCAAAATGTC -3'
(R):5'- TCATGAAAACCAAGGCTTGGACCTC -3'

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