Incidental Mutation 'R1163:Dock8'
ID 100738
Institutional Source Beutler Lab
Gene Symbol Dock8
Ensembl Gene ENSMUSG00000052085
Gene Name dedicator of cytokinesis 8
Synonyms 1200017A24Rik, 5830472H07Rik, A130095G14Rik
MMRRC Submission 039236-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.092) question?
Stock # R1163 (G1)
Quality Score 225
Status Not validated
Chromosome 19
Chromosomal Location 24976898-25179796 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 25028867 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 24 (I24V)
Ref Sequence ENSEMBL: ENSMUSP00000025831 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025831]
AlphaFold Q8C147
PDB Structure Crystal structure of the DHR-2 domain of DOCK8 in complex with Cdc42 (T17N mutant) [X-RAY DIFFRACTION]
Predicted Effect probably benign
Transcript: ENSMUST00000025831
AA Change: I24V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000025831
Gene: ENSMUSG00000052085
AA Change: I24V

DomainStartEndE-ValueType
Pfam:DUF3398 71 164 3.9e-25 PFAM
Pfam:DOCK-C2 557 739 6.7e-49 PFAM
low complexity region 786 803 N/A INTRINSIC
low complexity region 1003 1020 N/A INTRINSIC
low complexity region 1123 1138 N/A INTRINSIC
low complexity region 1236 1246 N/A INTRINSIC
low complexity region 1371 1383 N/A INTRINSIC
Pfam:DHR-2 1534 2060 5e-210 PFAM
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.3%
  • 20x: 92.7%
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 DOCK180 family of guanine nucleotide exchange factors. Guanine nucleotide exchange factors interact with Rho GTPases and are components of intracellular signaling networks. Mutations in this gene result in the autosomal recessive form of the hyper-IgE syndrome. Alternatively spliced transcript variants encoding different isoforms have been described.[provided by RefSeq, Jun 2010]
PHENOTYPE: Mice homozygous for inactivating mutations of this gene exhibit loss of marginal zone B cells, decrease in peritoneal B1 cells and peripheral naive T cells, failure of sustained antibody response after immunization, failure of germinal center persistence, and failure of B cell affinity maturation. [provided by MGI curators]
Allele List at MGI

All alleles(6) : Gene trapped(4) Chemically induced(2)

Mice homozygous for inactivating mutations of this gene exhibit loss of marginal zone B cells, decrease in peritoneal B1 cells and peripheral naive T cells, failure of sustained antibody response after immunization, failure of germinal center persistence, and failure of B cell affinity maturation.

Other mutations in this stock
Total: 90 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700113H08Rik T A 10: 86,957,284 (GRCm39) Y7N probably damaging Het
4930579F01Rik T G 3: 137,882,271 (GRCm39) D18A probably damaging Het
Abca8a T C 11: 109,962,356 (GRCm39) D499G probably benign Het
Adamts1 G C 16: 85,599,525 (GRCm39) A25G probably benign Het
Adamts2 A T 11: 50,670,541 (GRCm39) I552F probably damaging Het
Akap3 A G 6: 126,841,750 (GRCm39) D123G probably damaging Het
Ankar C T 1: 72,727,864 (GRCm39) V350I possibly damaging Het
Apob A G 12: 8,061,654 (GRCm39) T3379A probably damaging Het
Ash1l G T 3: 88,942,570 (GRCm39) probably null Het
Atp2b1 T C 10: 98,815,713 (GRCm39) I119T possibly damaging Het
B3gnt2 A T 11: 22,786,558 (GRCm39) M210K probably benign Het
Bcl11a A G 11: 24,115,143 (GRCm39) N829D probably benign Het
Btnl4 T C 17: 34,689,049 (GRCm39) E337G possibly damaging Het
Casr A T 16: 36,315,169 (GRCm39) V967D probably damaging Het
Cd200 A T 16: 45,212,715 (GRCm39) V244D probably damaging Het
Cd200r4 A G 16: 44,658,383 (GRCm39) N256D probably benign Het
Cep68 A G 11: 20,190,539 (GRCm39) S158P probably damaging Het
Chst10 A T 1: 38,910,783 (GRCm39) V123D probably damaging Het
Cobll1 T C 2: 64,928,623 (GRCm39) H938R probably damaging Het
Creld2 G A 15: 88,704,834 (GRCm39) W103* probably null Het
Dmkn T G 7: 30,464,476 (GRCm39) C205G probably damaging Het
Dpp3 C T 19: 4,964,951 (GRCm39) W488* probably null Het
Dpp9 C A 17: 56,506,426 (GRCm39) A365S possibly damaging Het
Egfr A T 11: 16,833,546 (GRCm39) T605S probably benign Het
Eme2 G A 17: 25,111,892 (GRCm39) S263F probably damaging Het
Fam83g T C 11: 61,594,262 (GRCm39) S599P probably damaging Het
Fscn1 G T 5: 142,946,598 (GRCm39) W132L probably damaging Het
Gbp2b A G 3: 142,304,857 (GRCm39) T98A probably damaging Het
Gm4922 C T 10: 18,659,469 (GRCm39) A418T possibly damaging Het
Golgb1 G T 16: 36,736,488 (GRCm39) V1912L possibly damaging Het
Gon4l T C 3: 88,799,842 (GRCm39) L829P probably damaging Het
Grm3 T A 5: 9,620,738 (GRCm39) I169L probably benign Het
Gsdma2 A G 11: 98,541,684 (GRCm39) D137G probably damaging Het
Hhip T C 8: 80,719,105 (GRCm39) Y474C probably damaging Het
Hsph1 A T 5: 149,554,266 (GRCm39) V163E probably damaging Het
Ifi203 T C 1: 173,751,703 (GRCm39) K373E probably damaging Het
Itsn2 A G 12: 4,762,009 (GRCm39) T1540A probably benign Het
Kdm1b T C 13: 47,225,398 (GRCm39) V527A probably benign Het
Kdm5d G A Y: 898,029 (GRCm39) A22T probably benign Het
Khdrbs1 A T 4: 129,619,379 (GRCm39) F254Y possibly damaging Het
Kif26a T C 12: 112,146,379 (GRCm39) F1822L probably benign Het
Krt1 C A 15: 101,756,600 (GRCm39) E308* probably null Het
Lrrc47 T A 4: 154,096,274 (GRCm39) M1K probably null Het
Mrgpra4 A T 7: 47,631,224 (GRCm39) W126R probably damaging Het
Nlrp4e G A 7: 23,020,397 (GRCm39) V295I probably benign Het
Or1l4b A T 2: 37,037,039 (GRCm39) T272S probably damaging Het
Or2f1 G A 6: 42,721,057 (GRCm39) V29I probably benign Het
Or4c10 G T 2: 89,760,449 (GRCm39) V99F possibly damaging Het
Or5ac19 A G 16: 59,089,518 (GRCm39) S171P probably benign Het
Or5ac24 A T 16: 59,165,425 (GRCm39) I213N probably damaging Het
Or5b96 T A 19: 12,867,513 (GRCm39) T143S probably benign Het
Or6c66 A G 10: 129,461,516 (GRCm39) V138A possibly damaging Het
Or8h10 A G 2: 86,809,020 (GRCm39) L40P probably damaging Het
Or8k41 A T 2: 86,313,582 (GRCm39) F168Y probably damaging Het
Plec G T 15: 76,068,038 (GRCm39) N1190K possibly damaging Het
Plin1 T C 7: 79,379,719 (GRCm39) T44A probably damaging Het
Pou3f2 TTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG TTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG 4: 22,487,697 (GRCm39) probably benign Het
Pramel22 A G 4: 143,383,204 (GRCm39) L5P probably damaging Het
Psg27 A G 7: 18,299,234 (GRCm39) L29P probably damaging Het
Psmd13 C A 7: 140,477,367 (GRCm39) T292N probably damaging Het
Rab1b A T 19: 5,154,684 (GRCm39) Y88* probably null Het
Reln T A 5: 22,104,027 (GRCm39) I3315L probably benign Het
Rmdn2 A T 17: 79,966,880 (GRCm39) M257L probably benign Het
Rnd1 A T 15: 98,574,435 (GRCm39) F47L probably damaging Het
Rnf41 G A 10: 128,274,076 (GRCm39) V243I probably benign Het
Rnf43 C G 11: 87,620,339 (GRCm39) S226R probably damaging Het
Scn5a A T 9: 119,362,993 (GRCm39) D542E probably damaging Het
Sema5b A T 16: 35,448,466 (GRCm39) I81F probably benign Het
Serinc5 G A 13: 92,819,285 (GRCm39) C73Y probably damaging Het
Serpina3g A T 12: 104,205,551 (GRCm39) N97Y possibly damaging Het
Shq1 A G 6: 100,614,033 (GRCm39) S262P probably damaging Het
Smad4 A T 18: 73,781,978 (GRCm39) I428N probably damaging Het
Snip1 G T 4: 124,966,613 (GRCm39) G348W probably damaging Het
Spg11 A G 2: 121,901,422 (GRCm39) L1506P probably damaging Het
Stard9 G A 2: 120,526,694 (GRCm39) V984I possibly damaging Het
Svopl A T 6: 38,006,635 (GRCm39) F121I possibly damaging Het
Tjp1 A T 7: 64,972,802 (GRCm39) V546E probably damaging Het
Tmem116 T A 5: 121,631,819 (GRCm39) F110L probably damaging Het
Ttyh2 C T 11: 114,601,714 (GRCm39) T446M probably benign Het
Tubb1 A T 2: 174,299,532 (GRCm39) I405L probably benign Het
Uba5 A T 9: 103,933,025 (GRCm39) F155L possibly damaging Het
Ubd C T 17: 37,506,212 (GRCm39) H33Y probably damaging Het
Ube3d A T 9: 86,322,648 (GRCm39) D175E probably benign Het
Usp24 A G 4: 106,278,157 (GRCm39) Q2293R probably benign Het
Vmn1r175 T A 7: 23,507,937 (GRCm39) H230L probably benign Het
Vmn1r88 A G 7: 12,912,060 (GRCm39) I139V probably benign Het
Vmn2r1 T C 3: 63,994,046 (GRCm39) F131L probably benign Het
Yipf3 T C 17: 46,562,155 (GRCm39) probably null Het
Zdhhc19 A G 16: 32,325,258 (GRCm39) K192R probably benign Het
Zfy1 G A Y: 725,611 (GRCm39) T718I probably damaging Het
Other mutations in Dock8
AlleleSourceChrCoordTypePredicted EffectPPH Score
captain_morgan APN 19 25,105,076 (GRCm39) critical splice donor site probably benign
primurus APN 19 25,160,973 (GRCm39) missense probably damaging 1.00
IGL00737:Dock8 APN 19 25,160,340 (GRCm39) missense probably benign 0.00
IGL00755:Dock8 APN 19 25,028,873 (GRCm39) missense probably benign 0.09
IGL00822:Dock8 APN 19 25,165,773 (GRCm39) nonsense probably null
IGL00838:Dock8 APN 19 25,152,823 (GRCm39) nonsense probably null
IGL01419:Dock8 APN 19 25,096,816 (GRCm39) missense probably benign 0.08
IGL01456:Dock8 APN 19 25,096,863 (GRCm39) missense possibly damaging 0.95
IGL01532:Dock8 APN 19 25,146,805 (GRCm39) missense probably damaging 0.99
IGL01602:Dock8 APN 19 25,067,252 (GRCm39) splice site probably benign
IGL01605:Dock8 APN 19 25,067,252 (GRCm39) splice site probably benign
IGL01753:Dock8 APN 19 25,038,656 (GRCm39) splice site probably benign
IGL01843:Dock8 APN 19 25,067,292 (GRCm39) missense probably benign 0.02
IGL02032:Dock8 APN 19 25,107,769 (GRCm39) missense probably damaging 0.99
IGL02073:Dock8 APN 19 25,178,350 (GRCm39) critical splice acceptor site probably null
IGL02192:Dock8 APN 19 25,055,569 (GRCm39) critical splice donor site probably null
IGL02402:Dock8 APN 19 25,055,509 (GRCm39) missense probably benign 0.25
IGL02529:Dock8 APN 19 25,078,290 (GRCm39) nonsense probably null
IGL02728:Dock8 APN 19 25,109,584 (GRCm39) missense probably benign
IGL02739:Dock8 APN 19 25,165,852 (GRCm39) missense probably damaging 1.00
IGL03037:Dock8 APN 19 25,063,545 (GRCm39) missense probably benign 0.02
IGL03104:Dock8 APN 19 25,178,384 (GRCm39) nonsense probably null
IGL03137:Dock8 APN 19 25,133,312 (GRCm39) missense probably benign 0.19
IGL03365:Dock8 APN 19 25,077,048 (GRCm39) missense possibly damaging 0.70
Defenseless UTSW 19 25,028,927 (GRCm39) missense probably benign 0.00
Guardate UTSW 19 25,127,195 (GRCm39) missense probably benign
hillock UTSW 19 25,151,697 (GRCm39) critical splice donor site probably null
Molehill UTSW 19 25,107,825 (GRCm39) missense probably damaging 1.00
Pap UTSW 19 25,099,805 (GRCm39) missense probably benign 0.31
Papilla UTSW 19 25,055,448 (GRCm39) nonsense probably null
snowdrop UTSW 19 25,162,305 (GRCm39) critical splice donor site probably null
warts_and_all UTSW 19 25,146,865 (GRCm39) critical splice donor site probably null
R0021:Dock8 UTSW 19 25,140,411 (GRCm39) missense probably benign 0.01
R0147:Dock8 UTSW 19 25,096,823 (GRCm39) missense probably benign 0.00
R0148:Dock8 UTSW 19 25,096,823 (GRCm39) missense probably benign 0.00
R0294:Dock8 UTSW 19 25,165,714 (GRCm39) missense probably damaging 1.00
R0537:Dock8 UTSW 19 25,148,941 (GRCm39) missense probably benign 0.08
R0630:Dock8 UTSW 19 25,038,524 (GRCm39) missense probably benign 0.10
R1164:Dock8 UTSW 19 25,067,391 (GRCm39) missense probably benign 0.44
R1471:Dock8 UTSW 19 25,178,400 (GRCm39) missense possibly damaging 0.74
R1477:Dock8 UTSW 19 25,072,914 (GRCm39) missense possibly damaging 0.95
R1633:Dock8 UTSW 19 25,028,927 (GRCm39) missense probably benign 0.00
R1803:Dock8 UTSW 19 25,109,599 (GRCm39) missense probably benign 0.00
R1822:Dock8 UTSW 19 25,138,422 (GRCm39) missense probably benign 0.31
R1852:Dock8 UTSW 19 25,104,492 (GRCm39) missense probably benign 0.45
R1916:Dock8 UTSW 19 25,038,521 (GRCm39) missense probably benign 0.02
R1984:Dock8 UTSW 19 25,098,545 (GRCm39) missense probably null
R2311:Dock8 UTSW 19 25,160,368 (GRCm39) missense possibly damaging 0.93
R2341:Dock8 UTSW 19 25,177,757 (GRCm39) missense probably damaging 0.99
R2483:Dock8 UTSW 19 25,057,241 (GRCm39) missense probably benign
R3116:Dock8 UTSW 19 25,165,858 (GRCm39) missense probably benign 0.00
R3157:Dock8 UTSW 19 25,127,195 (GRCm39) missense probably benign
R3623:Dock8 UTSW 19 25,057,241 (GRCm39) missense probably benign
R3624:Dock8 UTSW 19 25,057,241 (GRCm39) missense probably benign
R3800:Dock8 UTSW 19 25,141,716 (GRCm39) missense probably benign 0.08
R3844:Dock8 UTSW 19 25,042,794 (GRCm39) nonsense probably null
R3895:Dock8 UTSW 19 25,028,865 (GRCm39) missense probably benign 0.31
R3901:Dock8 UTSW 19 25,078,269 (GRCm39) missense possibly damaging 0.69
R3959:Dock8 UTSW 19 25,162,305 (GRCm39) critical splice donor site probably null
R4428:Dock8 UTSW 19 25,042,754 (GRCm39) missense probably benign 0.00
R4428:Dock8 UTSW 19 25,177,863 (GRCm39) missense probably damaging 0.98
R4429:Dock8 UTSW 19 25,042,754 (GRCm39) missense probably benign 0.00
R4431:Dock8 UTSW 19 25,042,754 (GRCm39) missense probably benign 0.00
R4545:Dock8 UTSW 19 25,165,722 (GRCm39) missense probably damaging 1.00
R4839:Dock8 UTSW 19 25,146,858 (GRCm39) missense probably benign 0.00
R4897:Dock8 UTSW 19 25,159,001 (GRCm39) missense probably benign 0.00
R4939:Dock8 UTSW 19 25,099,764 (GRCm39) missense probably damaging 1.00
R4995:Dock8 UTSW 19 25,135,747 (GRCm39) missense probably benign 0.02
R5035:Dock8 UTSW 19 25,063,571 (GRCm39) missense probably damaging 0.99
R5294:Dock8 UTSW 19 25,038,517 (GRCm39) missense probably benign 0.01
R5324:Dock8 UTSW 19 25,140,458 (GRCm39) missense probably benign 0.17
R5478:Dock8 UTSW 19 25,057,186 (GRCm39) missense probably benign
R5704:Dock8 UTSW 19 25,151,586 (GRCm39) missense probably damaging 1.00
R5724:Dock8 UTSW 19 25,099,785 (GRCm39) missense probably damaging 1.00
R5745:Dock8 UTSW 19 25,107,761 (GRCm39) missense probably benign 0.02
R5864:Dock8 UTSW 19 25,038,584 (GRCm39) missense probably damaging 0.99
R5870:Dock8 UTSW 19 25,109,490 (GRCm39) missense probably benign
R5893:Dock8 UTSW 19 25,099,811 (GRCm39) missense probably damaging 1.00
R5954:Dock8 UTSW 19 25,148,983 (GRCm39) missense probably damaging 1.00
R6087:Dock8 UTSW 19 25,138,438 (GRCm39) missense probably benign 0.00
R6223:Dock8 UTSW 19 25,138,416 (GRCm39) missense probably benign 0.00
R6391:Dock8 UTSW 19 25,072,914 (GRCm39) missense possibly damaging 0.95
R6759:Dock8 UTSW 19 25,104,848 (GRCm39) missense probably damaging 0.99
R6786:Dock8 UTSW 19 25,160,386 (GRCm39) missense possibly damaging 0.49
R6794:Dock8 UTSW 19 25,099,805 (GRCm39) missense probably benign 0.31
R6818:Dock8 UTSW 19 25,146,865 (GRCm39) critical splice donor site probably null
R6885:Dock8 UTSW 19 25,124,742 (GRCm39) missense possibly damaging 0.95
R6908:Dock8 UTSW 19 25,165,746 (GRCm39) missense probably damaging 1.00
R6923:Dock8 UTSW 19 25,072,970 (GRCm39) missense probably benign
R7001:Dock8 UTSW 19 25,077,041 (GRCm39) missense probably benign
R7141:Dock8 UTSW 19 25,158,984 (GRCm39) missense probably null 0.75
R7203:Dock8 UTSW 19 25,158,927 (GRCm39) missense probably damaging 1.00
R7257:Dock8 UTSW 19 25,104,449 (GRCm39) missense probably benign 0.08
R7296:Dock8 UTSW 19 25,162,245 (GRCm39) missense probably benign 0.00
R7538:Dock8 UTSW 19 25,135,782 (GRCm39) missense probably damaging 1.00
R7555:Dock8 UTSW 19 25,152,764 (GRCm39) missense probably damaging 0.99
R7641:Dock8 UTSW 19 25,151,697 (GRCm39) critical splice donor site probably null
R7764:Dock8 UTSW 19 25,074,899 (GRCm39) missense probably benign
R7859:Dock8 UTSW 19 25,160,934 (GRCm39) missense probably damaging 1.00
R7864:Dock8 UTSW 19 25,140,864 (GRCm39) missense possibly damaging 0.95
R8090:Dock8 UTSW 19 25,131,606 (GRCm39) missense probably damaging 1.00
R8160:Dock8 UTSW 19 25,124,711 (GRCm39) missense probably damaging 1.00
R8287:Dock8 UTSW 19 25,107,825 (GRCm39) missense probably damaging 1.00
R8295:Dock8 UTSW 19 25,100,600 (GRCm39) missense probably benign 0.04
R8443:Dock8 UTSW 19 25,133,281 (GRCm39) missense probably benign 0.04
R8537:Dock8 UTSW 19 25,107,870 (GRCm39) missense probably benign 0.00
R8673:Dock8 UTSW 19 25,160,867 (GRCm39) missense probably damaging 0.96
R8709:Dock8 UTSW 19 25,055,448 (GRCm39) nonsense probably null
R8834:Dock8 UTSW 19 25,140,834 (GRCm39) missense probably benign 0.16
R8991:Dock8 UTSW 19 25,165,731 (GRCm39) missense possibly damaging 0.82
R9292:Dock8 UTSW 19 25,160,995 (GRCm39) splice site probably benign
R9509:Dock8 UTSW 19 25,072,985 (GRCm39) missense probably benign 0.00
R9526:Dock8 UTSW 19 25,165,739 (GRCm39) missense probably benign 0.10
R9622:Dock8 UTSW 19 25,098,545 (GRCm39) missense probably null
R9634:Dock8 UTSW 19 25,169,585 (GRCm39) missense probably damaging 1.00
R9654:Dock8 UTSW 19 25,124,710 (GRCm39) missense probably damaging 1.00
R9670:Dock8 UTSW 19 25,148,926 (GRCm39) missense probably null 0.01
R9699:Dock8 UTSW 19 25,133,388 (GRCm39) critical splice donor site probably null
R9726:Dock8 UTSW 19 25,154,374 (GRCm39) missense probably damaging 0.97
R9765:Dock8 UTSW 19 25,146,832 (GRCm39) missense possibly damaging 0.94
X0027:Dock8 UTSW 19 25,138,493 (GRCm39) missense probably benign
Z1177:Dock8 UTSW 19 25,133,336 (GRCm39) missense probably benign 0.16
Z1177:Dock8 UTSW 19 25,109,487 (GRCm39) missense probably benign 0.05
Predicted Primers
Posted On 2014-01-15