Mutagenetix > Incidental Mutation

Incidental Mutation 'R7555:Dock8'

584741

Institutional Source

Beutler Lab

Gene Symbol

Dock8

Ensembl Gene

ENSMUSG00000052085

Gene Name

dedicator of cytokinesis 8

Synonyms

A130095G14Rik, 5830472H07Rik, 1200017A24Rik

MMRRC Submission

045623-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.087) question?

Stock #

R7555 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

24999529-25202432 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 25175400 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 1610 (D1610G)

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 damaging
Transcript: ENSMUST00000025831
AA Change: D1610G

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000025831
Gene: ENSMUSG00000052085
AA Change: D1610G

Domain	Start	End	E-Value	Type
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: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (83/83)

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: 87 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9430007A20Rik	T	A	4: 144,522,354 (GRCm38)	I97N	probably damaging	Het
Acvrl1	A	G	15: 101,143,473 (GRCm38)	H502R	probably benign	Het
Adgrf4	T	C	17: 42,672,603 (GRCm38)	S63G	probably benign	Het
Agbl2	C	A	2: 90,791,555 (GRCm38)	L129I	probably damaging	Het
Ankrd11	C	A	8: 122,887,406 (GRCm38)	A2542S	probably damaging	Het
Armc9	A	G	1: 86,275,678 (GRCm38)	K818R	probably damaging	Het
Arsj	T	A	3: 126,438,236 (GRCm38)	C210*	probably null	Het
Aspscr1	C	T	11: 120,673,100 (GRCm38)	A11V	unknown	Het
Bicc1	G	T	10: 70,956,291 (GRCm38)	Q296K	possibly damaging	Het
Borcs5	A	C	6: 134,685,979 (GRCm38)	Q73P	probably benign	Het
Capn15	G	T	17: 25,963,432 (GRCm38)	D567E	probably damaging	Het
Catsperg1	A	C	7: 29,189,814 (GRCm38)	I866S	probably damaging	Het
Ccdc27	G	T	4: 154,041,817 (GRCm38)	H72N	unknown	Het
Ccser2	A	T	14: 36,879,500 (GRCm38)	M309K	possibly damaging	Het
Cd1d2	A	G	3: 86,987,101 (GRCm38)	S59G	probably benign	Het
Chml	G	A	1: 175,687,890 (GRCm38)	P155L	probably benign	Het
Csmd2	C	T	4: 128,452,458 (GRCm38)	P1504S		Het
Dcbld2	A	G	16: 58,448,718 (GRCm38)		probably null	Het
Ddx21	C	T	10: 62,598,243 (GRCm38)	E246K	probably benign	Het
Dhx29	C	T	13: 112,927,642 (GRCm38)		probably benign	Het
Dis3l	A	C	9: 64,311,937 (GRCm38)	Y570*	probably null	Het
Dnah14	T	A	1: 181,770,054 (GRCm38)	Y3623N	probably benign	Het
Dync1h1	T	C	12: 110,630,625 (GRCm38)	S1669P	probably benign	Het
Eif2ak4	T	A	2: 118,417,283 (GRCm38)	I267N	possibly damaging	Het
Ern2	A	T	7: 122,170,241 (GRCm38)	V854E	probably damaging	Het
Fuca2	G	A	10: 13,507,430 (GRCm38)		probably null	Het
Gbp10	G	A	5: 105,236,149 (GRCm38)		probably benign	Het
Gm1110	T	A	9: 26,893,628 (GRCm38)	T380S	probably benign	Het
Gm13128	T	C	4: 144,332,741 (GRCm38)	F341L	probably benign	Het
Gm5788	A	C	12: 87,494,735 (GRCm38)	K5N	unknown	Het
Gm6460	A	T	5: 11,597,612 (GRCm38)	N106Y	probably damaging	Het
Golga2	G	A	2: 32,288,166 (GRCm38)	R29H	probably benign	Het
Grik5	T	C	7: 25,060,597 (GRCm38)	E259G	probably benign	Het
Grm3	T	C	5: 9,570,000 (GRCm38)	T415A	probably benign	Het
Gtf3c1	A	G	7: 125,645,670 (GRCm38)	Y1731H	probably damaging	Het
Hectd2	T	C	19: 36,612,403 (GRCm38)	C643R	probably damaging	Het
Hgfac	T	C	5: 35,042,628 (GRCm38)	S118P	probably damaging	Het
Hmcn1	A	G	1: 150,604,874 (GRCm38)	V4517A	probably benign	Het
Hnrnpc	A	T	14: 52,075,153 (GRCm38)	L290*	probably null	Het
Homer3	A	G	8: 70,289,413 (GRCm38)	E108G	probably damaging	Het
Hsd17b3	G	T	13: 64,072,002 (GRCm38)	S141R	probably benign	Het
Hspa12b	C	T	2: 131,138,476 (GRCm38)	T105I	probably damaging	Het
Ifi202b	T	C	1: 173,972,221 (GRCm38)	I231M	probably damaging	Het
Inhba	T	A	13: 16,017,637 (GRCm38)	N114K	probably benign	Het
Kmt2b	C	A	7: 30,569,410 (GRCm38)	M2631I	possibly damaging	Het
Loxhd1	C	T	18: 77,395,365 (GRCm38)	T1214I	probably damaging	Het
Lrp1	G	T	10: 127,546,862 (GRCm38)	N3683K	probably damaging	Het
Lrrc8e	A	G	8: 4,234,363 (GRCm38)	K196R	probably benign	Het
Lrrn3	A	T	12: 41,452,911 (GRCm38)	M469K	probably benign	Het
Mafb	T	C	2: 160,365,829 (GRCm38)	E283G	probably damaging	Het
Mapt	C	A	11: 104,298,702 (GRCm38)	P182Q	probably benign	Het
Mmp14	G	T	14: 54,437,742 (GRCm38)	R277L	possibly damaging	Het
Mucl2	T	A	15: 103,897,445 (GRCm38)	N82I	probably benign	Het
Nsun6	T	A	2: 14,996,339 (GRCm38)	T469S	possibly damaging	Het
Olfr1076	A	C	2: 86,509,347 (GRCm38)	D296A	probably damaging	Het
Olfr1342	T	C	4: 118,689,642 (GRCm38)	D270G	possibly damaging	Het
Olfr507	G	C	7: 108,622,726 (GRCm38)	A305P	probably damaging	Het
Osbpl5	A	T	7: 143,694,933 (GRCm38)	F631I	possibly damaging	Het
Otud3	G	T	4: 138,901,885 (GRCm38)	D190E	possibly damaging	Het
Pcdhb6	A	T	18: 37,335,279 (GRCm38)	I418F	possibly damaging	Het
Per1	G	A	11: 69,106,513 (GRCm38)	R838H	probably damaging	Het
Per2	G	A	1: 91,435,135 (GRCm38)	P395S	probably damaging	Het
Per3	G	A	4: 151,018,058 (GRCm38)	Q583*	probably null	Het
Pkhd1l1	A	T	15: 44,550,761 (GRCm38)	H2808L	possibly damaging	Het
Ppfia2	A	G	10: 106,927,826 (GRCm38)	T1227A	probably benign	Het
Psg17	C	T	7: 18,817,094 (GRCm38)	D279N	probably benign	Het
Rnf167	A	G	11: 70,650,797 (GRCm38)	D235G	probably benign	Het
Rxfp3	A	G	15: 11,036,276 (GRCm38)	S337P	probably damaging	Het
Sall1	T	C	8: 89,033,158 (GRCm38)	D106G	possibly damaging	Het
Sema4f	A	G	6: 82,914,056 (GRCm38)	V590A	probably benign	Het
Setd1b	A	G	5: 123,157,757 (GRCm38)	D1102G	unknown	Het
Six2	C	A	17: 85,687,707 (GRCm38)	K82N	probably damaging	Het
Snx29	T	C	16: 11,400,942 (GRCm38)	M214T	probably benign	Het
Son	T	C	16: 91,658,922 (GRCm38)	L1519P	probably damaging	Het
Spin1	C	T	13: 51,149,049 (GRCm38)	S226L	probably benign	Het
Stxbp5l	T	C	16: 37,323,603 (GRCm38)	D131G	probably damaging	Het
Svep1	T	C	4: 58,069,422 (GRCm38)	Y2788C	probably damaging	Het
Tbl3	C	A	17: 24,701,976 (GRCm38)		probably null	Het
Themis	A	T	10: 28,781,702 (GRCm38)	I242L	possibly damaging	Het
Tmem203	G	A	2: 25,255,730 (GRCm38)	V21M	probably benign	Het
Trp53inp1	T	C	4: 11,169,750 (GRCm38)	C171R	probably benign	Het
Tsg101	A	G	7: 46,913,411 (GRCm38)	Y32H	probably damaging	Het
Tyw1	A	G	5: 130,274,706 (GRCm38)	D305G	probably damaging	Het
Vmn1r40	A	T	6: 89,715,044 (GRCm38)	Y281F	probably damaging	Het
Vmn2r105	T	A	17: 20,227,675 (GRCm38)	T296S	probably damaging	Het
Vmn2r13	T	C	5: 109,171,691 (GRCm38)		probably null	Het
Zfp933	A	G	4: 147,826,132 (GRCm38)	F336L	probably damaging	Het

Other mutations in Dock8

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
IGL03037:Dock8	APN	19	25,086,181 (GRCm38)	missense	probably benign	0.02
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
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

Predicted Primers

PCR Primer
(F):5'- TGTGGACCTTGGATTGCACA -3'
(R):5'- AAAAGATGCAGTGTCACCTAGA -3'

Sequencing Primer
(F):5'- TTGCACAGATGAAAATGGCCC -3'
(R):5'- TGGAACTCACTCTGTGGACCAG -3'

Posted On

2019-10-17