Incidental Mutation 'IGL03037:Dock8'
ID 408735
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Dock8
Ensembl Gene ENSMUSG00000052085
Gene Name dedicator of cytokinesis 8
Synonyms A130095G14Rik, 5830472H07Rik, 1200017A24Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.087) question?
Stock # IGL03037
Quality Score
Status
Chromosome 19
Chromosomal Location 24999529-25202432 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to G at 25086181 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 249 (E249G)
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: E249G

PolyPhen 2 Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000025831
Gene: ENSMUSG00000052085
AA Change: E249G

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
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: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932438A13Rik T C 3: 36,969,208 (GRCm38) S2229P probably damaging Het
4932438A13Rik C A 3: 36,969,207 (GRCm38) S2227R probably benign Het
Actl11 T C 9: 107,930,095 (GRCm38) L539P probably damaging Het
Adam23 A T 1: 63,571,017 (GRCm38) Q726L possibly damaging Het
Ago1 T C 4: 126,461,794 (GRCm38) E74G probably benign Het
Atp6v1d C A 12: 78,857,348 (GRCm38) probably benign Het
Cadm4 T A 7: 24,500,795 (GRCm38) L243Q probably damaging Het
Camsap2 C A 1: 136,274,857 (GRCm38) L1274F probably damaging Het
Car10 A G 11: 93,100,218 (GRCm38) probably benign Het
Catsperd A T 17: 56,641,583 (GRCm38) D186V possibly damaging Het
Cdc42bpg A G 19: 6,311,200 (GRCm38) Y285C probably damaging Het
Cenpi T A X: 134,349,268 (GRCm38) C599S possibly damaging Het
Cln8 A T 8: 14,894,679 (GRCm38) probably benign Het
Cnksr1 T C 4: 134,235,106 (GRCm38) probably null Het
Ddx5 T C 11: 106,782,104 (GRCm38) N532D possibly damaging Het
Dock11 G T X: 36,047,046 (GRCm38) probably benign Het
Espnl T C 1: 91,341,921 (GRCm38) V393A probably benign Het
Fam160a2 A T 7: 105,379,086 (GRCm38) H885Q probably benign Het
Frrs1 T C 3: 116,902,467 (GRCm38) probably benign Het
Fstl4 C A 11: 53,168,223 (GRCm38) A503D possibly damaging Het
Gda T A 19: 21,434,309 (GRCm38) I42L possibly damaging Het
Gprc5d C A 6: 135,116,321 (GRCm38) C196F probably damaging Het
Hnrnpa0 A G 13: 58,127,953 (GRCm38) F121L probably damaging Het
Hsd3b7 C T 7: 127,801,150 (GRCm38) H24Y probably damaging Het
Ift140 T C 17: 25,092,394 (GRCm38) S1188P probably benign Het
Lyl1 C T 8: 84,702,671 (GRCm38) P3L possibly damaging Het
Mcemp1 C A 8: 3,667,055 (GRCm38) Y65* probably null Het
Mmp16 C T 4: 17,996,222 (GRCm38) P104S probably damaging Het
Mpst C A 15: 78,410,598 (GRCm38) R177S probably benign Het
Nek1 A T 8: 61,034,052 (GRCm38) T279S probably benign Het
Olfr1201 A G 2: 88,794,955 (GRCm38) Y191C probably damaging Het
Olfr357 C T 2: 36,997,548 (GRCm38) T246I probably benign Het
Olfr54 A T 11: 51,027,290 (GRCm38) Y96F probably damaging Het
Olfr830 T A 9: 18,875,372 (GRCm38) I12N probably damaging Het
Pard3 A T 8: 127,306,494 (GRCm38) T190S probably benign Het
Pik3r4 A G 9: 105,650,813 (GRCm38) D455G probably damaging Het
Piwil4 T C 9: 14,705,012 (GRCm38) I756V possibly damaging Het
Pkhd1 A G 1: 20,522,699 (GRCm38) L1730P probably benign Het
Pnpla3 T C 15: 84,172,759 (GRCm38) I155T probably damaging Het
Prmt8 T C 6: 127,703,977 (GRCm38) Y243C possibly damaging Het
Rbfox1 T A 16: 7,292,283 (GRCm38) probably benign Het
Rps6ka2 G A 17: 7,254,450 (GRCm38) probably null Het
Scaf8 A G 17: 3,190,221 (GRCm38) K623E probably damaging Het
Slc26a4 A T 12: 31,531,687 (GRCm38) probably benign Het
Slfn8 T A 11: 83,003,252 (GRCm38) I854F probably damaging Het
Smarca4 T C 9: 21,632,935 (GRCm38) probably benign Het
Sos1 T C 17: 80,420,329 (GRCm38) D775G probably damaging Het
Spag17 G A 3: 100,072,170 (GRCm38) probably null Het
Spata31d1d T A 13: 59,726,133 (GRCm38) E1196V possibly damaging Het
Sqle T A 15: 59,321,397 (GRCm38) Y208N probably damaging Het
Tcl1b5 C T 12: 105,179,014 (GRCm38) T79M probably benign Het
Tdgf1 C A 9: 110,943,220 (GRCm38) W36L probably benign Het
Tenm3 A G 8: 48,298,878 (GRCm38) F959L possibly damaging Het
Tnfrsf19 T A 14: 61,024,272 (GRCm38) K26I possibly damaging Het
Trappc10 A T 10: 78,199,035 (GRCm38) probably benign Het
Trim80 T C 11: 115,441,593 (GRCm38) W204R possibly damaging Het
Trpm3 A G 19: 22,889,412 (GRCm38) T536A possibly damaging Het
Ttbk1 G A 17: 46,446,330 (GRCm38) T1126I probably benign Het
Uaca A G 9: 60,840,865 (GRCm38) D37G probably damaging Het
Ube3a T C 7: 59,247,223 (GRCm38) probably benign Het
Ubqln2 C T X: 153,499,696 (GRCm38) Q415* probably null Het
Ugp2 T A 11: 21,332,540 (GRCm38) K151* probably null Het
Wasf1 A G 10: 40,930,658 (GRCm38) K99R probably benign Het
Wnt4 C T 4: 137,289,161 (GRCm38) T42M possibly damaging Het
Zfp54 T A 17: 21,430,215 (GRCm38) D17E probably damaging Het
Other mutations in Dock8
AlleleSourceChrCoordTypePredicted EffectPPH Score
captain_morgan APN 19 25,127,712 (GRCm38) critical splice donor site probably benign
primurus APN 19 25,183,609 (GRCm38) missense probably damaging 1.00
IGL00737:Dock8 APN 19 25,182,976 (GRCm38) missense probably benign 0.00
IGL00755:Dock8 APN 19 25,051,509 (GRCm38) missense probably benign 0.09
IGL00822:Dock8 APN 19 25,188,409 (GRCm38) nonsense probably null
IGL00838:Dock8 APN 19 25,175,459 (GRCm38) nonsense probably null
IGL01419:Dock8 APN 19 25,119,452 (GRCm38) missense probably benign 0.08
IGL01456:Dock8 APN 19 25,119,499 (GRCm38) missense possibly damaging 0.95
IGL01532:Dock8 APN 19 25,169,441 (GRCm38) missense probably damaging 0.99
IGL01602:Dock8 APN 19 25,089,888 (GRCm38) splice site probably benign
IGL01605:Dock8 APN 19 25,089,888 (GRCm38) splice site probably benign
IGL01753:Dock8 APN 19 25,061,292 (GRCm38) splice site probably benign
IGL01843:Dock8 APN 19 25,089,928 (GRCm38) missense probably benign 0.02
IGL02032:Dock8 APN 19 25,130,405 (GRCm38) missense probably damaging 0.99
IGL02073:Dock8 APN 19 25,200,986 (GRCm38) critical splice acceptor site probably null
IGL02192:Dock8 APN 19 25,078,205 (GRCm38) critical splice donor site probably null
IGL02402:Dock8 APN 19 25,078,145 (GRCm38) missense probably benign 0.25
IGL02529:Dock8 APN 19 25,100,926 (GRCm38) nonsense probably null
IGL02728:Dock8 APN 19 25,132,220 (GRCm38) missense probably benign
IGL02739:Dock8 APN 19 25,188,488 (GRCm38) missense probably damaging 1.00
IGL03104:Dock8 APN 19 25,201,020 (GRCm38) nonsense probably null
IGL03137:Dock8 APN 19 25,155,948 (GRCm38) missense probably benign 0.19
IGL03365:Dock8 APN 19 25,099,684 (GRCm38) missense possibly damaging 0.70
Defenseless UTSW 19 25,051,563 (GRCm38) missense probably benign 0.00
Guardate UTSW 19 25,149,831 (GRCm38) missense probably benign
hillock UTSW 19 25,174,333 (GRCm38) critical splice donor site probably null
Molehill UTSW 19 25,130,461 (GRCm38) missense probably damaging 1.00
Pap UTSW 19 25,122,441 (GRCm38) missense probably benign 0.31
Papilla UTSW 19 25,078,084 (GRCm38) nonsense probably null
snowdrop UTSW 19 25,184,941 (GRCm38) critical splice donor site probably null
warts_and_all UTSW 19 25,169,501 (GRCm38) critical splice donor site probably null
R0021:Dock8 UTSW 19 25,163,047 (GRCm38) missense probably benign 0.01
R0147:Dock8 UTSW 19 25,119,459 (GRCm38) missense probably benign 0.00
R0148:Dock8 UTSW 19 25,119,459 (GRCm38) missense probably benign 0.00
R0294:Dock8 UTSW 19 25,188,350 (GRCm38) missense probably damaging 1.00
R0537:Dock8 UTSW 19 25,171,577 (GRCm38) missense probably benign 0.08
R0630:Dock8 UTSW 19 25,061,160 (GRCm38) missense probably benign 0.10
R1163:Dock8 UTSW 19 25,051,503 (GRCm38) missense probably benign
R1164:Dock8 UTSW 19 25,090,027 (GRCm38) missense probably benign 0.44
R1471:Dock8 UTSW 19 25,201,036 (GRCm38) missense possibly damaging 0.74
R1477:Dock8 UTSW 19 25,095,550 (GRCm38) missense possibly damaging 0.95
R1633:Dock8 UTSW 19 25,051,563 (GRCm38) missense probably benign 0.00
R1803:Dock8 UTSW 19 25,132,235 (GRCm38) missense probably benign 0.00
R1822:Dock8 UTSW 19 25,161,058 (GRCm38) missense probably benign 0.31
R1852:Dock8 UTSW 19 25,127,128 (GRCm38) missense probably benign 0.45
R1916:Dock8 UTSW 19 25,061,157 (GRCm38) missense probably benign 0.02
R1984:Dock8 UTSW 19 25,121,181 (GRCm38) missense probably null
R2311:Dock8 UTSW 19 25,183,004 (GRCm38) missense possibly damaging 0.93
R2341:Dock8 UTSW 19 25,200,393 (GRCm38) missense probably damaging 0.99
R2483:Dock8 UTSW 19 25,079,877 (GRCm38) missense probably benign
R3116:Dock8 UTSW 19 25,188,494 (GRCm38) missense probably benign 0.00
R3157:Dock8 UTSW 19 25,149,831 (GRCm38) missense probably benign
R3623:Dock8 UTSW 19 25,079,877 (GRCm38) missense probably benign
R3624:Dock8 UTSW 19 25,079,877 (GRCm38) missense probably benign
R3800:Dock8 UTSW 19 25,164,352 (GRCm38) missense probably benign 0.08
R3844:Dock8 UTSW 19 25,065,430 (GRCm38) nonsense probably null
R3895:Dock8 UTSW 19 25,051,501 (GRCm38) missense probably benign 0.31
R3901:Dock8 UTSW 19 25,100,905 (GRCm38) missense possibly damaging 0.69
R3959:Dock8 UTSW 19 25,184,941 (GRCm38) critical splice donor site probably null
R4428:Dock8 UTSW 19 25,065,390 (GRCm38) missense probably benign 0.00
R4428:Dock8 UTSW 19 25,200,499 (GRCm38) missense probably damaging 0.98
R4429:Dock8 UTSW 19 25,065,390 (GRCm38) missense probably benign 0.00
R4431:Dock8 UTSW 19 25,065,390 (GRCm38) missense probably benign 0.00
R4545:Dock8 UTSW 19 25,188,358 (GRCm38) missense probably damaging 1.00
R4839:Dock8 UTSW 19 25,169,494 (GRCm38) missense probably benign 0.00
R4897:Dock8 UTSW 19 25,181,637 (GRCm38) missense probably benign 0.00
R4939:Dock8 UTSW 19 25,122,400 (GRCm38) missense probably damaging 1.00
R4995:Dock8 UTSW 19 25,158,383 (GRCm38) missense probably benign 0.02
R5035:Dock8 UTSW 19 25,086,207 (GRCm38) missense probably damaging 0.99
R5294:Dock8 UTSW 19 25,061,153 (GRCm38) missense probably benign 0.01
R5324:Dock8 UTSW 19 25,163,094 (GRCm38) missense probably benign 0.17
R5478:Dock8 UTSW 19 25,079,822 (GRCm38) missense probably benign
R5704:Dock8 UTSW 19 25,174,222 (GRCm38) missense probably damaging 1.00
R5724:Dock8 UTSW 19 25,122,421 (GRCm38) missense probably damaging 1.00
R5745:Dock8 UTSW 19 25,130,397 (GRCm38) missense probably benign 0.02
R5864:Dock8 UTSW 19 25,061,220 (GRCm38) missense probably damaging 0.99
R5870:Dock8 UTSW 19 25,132,126 (GRCm38) missense probably benign
R5893:Dock8 UTSW 19 25,122,447 (GRCm38) missense probably damaging 1.00
R5954:Dock8 UTSW 19 25,171,619 (GRCm38) missense probably damaging 1.00
R6087:Dock8 UTSW 19 25,161,074 (GRCm38) missense probably benign 0.00
R6223:Dock8 UTSW 19 25,161,052 (GRCm38) missense probably benign 0.00
R6391:Dock8 UTSW 19 25,095,550 (GRCm38) missense possibly damaging 0.95
R6759:Dock8 UTSW 19 25,127,484 (GRCm38) missense probably damaging 0.99
R6786:Dock8 UTSW 19 25,183,022 (GRCm38) missense possibly damaging 0.49
R6794:Dock8 UTSW 19 25,122,441 (GRCm38) missense probably benign 0.31
R6818:Dock8 UTSW 19 25,169,501 (GRCm38) critical splice donor site probably null
R6885:Dock8 UTSW 19 25,147,378 (GRCm38) missense possibly damaging 0.95
R6908:Dock8 UTSW 19 25,188,382 (GRCm38) missense probably damaging 1.00
R6923:Dock8 UTSW 19 25,095,606 (GRCm38) missense probably benign
R7001:Dock8 UTSW 19 25,099,677 (GRCm38) missense probably benign
R7141:Dock8 UTSW 19 25,181,620 (GRCm38) missense probably null 0.75
R7203:Dock8 UTSW 19 25,181,563 (GRCm38) missense probably damaging 1.00
R7257:Dock8 UTSW 19 25,127,085 (GRCm38) missense probably benign 0.08
R7296:Dock8 UTSW 19 25,184,881 (GRCm38) missense probably benign 0.00
R7538:Dock8 UTSW 19 25,158,418 (GRCm38) missense probably damaging 1.00
R7555:Dock8 UTSW 19 25,175,400 (GRCm38) missense probably damaging 0.99
R7641:Dock8 UTSW 19 25,174,333 (GRCm38) critical splice donor site probably null
R7764:Dock8 UTSW 19 25,097,535 (GRCm38) missense probably benign
R7859:Dock8 UTSW 19 25,183,570 (GRCm38) missense probably damaging 1.00
R7864:Dock8 UTSW 19 25,163,500 (GRCm38) missense possibly damaging 0.95
R8090:Dock8 UTSW 19 25,154,242 (GRCm38) missense probably damaging 1.00
R8160:Dock8 UTSW 19 25,147,347 (GRCm38) missense probably damaging 1.00
R8287:Dock8 UTSW 19 25,130,461 (GRCm38) missense probably damaging 1.00
R8295:Dock8 UTSW 19 25,123,236 (GRCm38) missense probably benign 0.04
R8443:Dock8 UTSW 19 25,155,917 (GRCm38) missense probably benign 0.04
R8537:Dock8 UTSW 19 25,130,506 (GRCm38) missense probably benign 0.00
R8673:Dock8 UTSW 19 25,183,503 (GRCm38) missense probably damaging 0.96
R8709:Dock8 UTSW 19 25,078,084 (GRCm38) nonsense probably null
R8834:Dock8 UTSW 19 25,163,470 (GRCm38) missense probably benign 0.16
R8991:Dock8 UTSW 19 25,188,367 (GRCm38) missense possibly damaging 0.82
R9292:Dock8 UTSW 19 25,183,631 (GRCm38) splice site probably benign
R9509:Dock8 UTSW 19 25,095,621 (GRCm38) missense probably benign 0.00
R9526:Dock8 UTSW 19 25,188,375 (GRCm38) missense probably benign 0.10
R9622:Dock8 UTSW 19 25,121,181 (GRCm38) missense probably null
R9634:Dock8 UTSW 19 25,192,221 (GRCm38) missense probably damaging 1.00
R9654:Dock8 UTSW 19 25,147,346 (GRCm38) missense probably damaging 1.00
R9670:Dock8 UTSW 19 25,171,562 (GRCm38) missense probably null 0.01
R9699:Dock8 UTSW 19 25,156,024 (GRCm38) critical splice donor site probably null
R9726:Dock8 UTSW 19 25,177,010 (GRCm38) missense probably damaging 0.97
R9765:Dock8 UTSW 19 25,169,468 (GRCm38) missense possibly damaging 0.94
X0027:Dock8 UTSW 19 25,161,129 (GRCm38) missense probably benign
Z1177:Dock8 UTSW 19 25,155,972 (GRCm38) missense probably benign 0.16
Z1177:Dock8 UTSW 19 25,132,123 (GRCm38) missense probably benign 0.05
Posted On 2016-08-02