Mutagenetix > Incidental Mutation

Incidental Mutation 'R6786:Dock8'

532410

Institutional Source

Beutler Lab

Gene Symbol

Dock8

Ensembl Gene

ENSMUSG00000052085

Gene Name

dedicator of cytokinesis 8

Synonyms

1200017A24Rik, 5830472H07Rik, A130095G14Rik

MMRRC Submission

044900-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.083) question?

Stock #

R6786 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

24976898-25179796 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 25160386 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Leucine at position 1763 (H1763L)

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

possibly damaging
Transcript: ENSMUST00000025831
AA Change: H1763L

PolyPhen 2 Score 0.490 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000025831
Gene: ENSMUSG00000052085
AA Change: H1763L

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: 99.9%
3x: 99.7%
10x: 98.5%
20x: 96.1%

Validation Efficiency

96% (66/69)

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actl7a	C	A	4: 56,744,116 (GRCm39)	Y214*	probably null	Het
Adnp2	A	G	18: 80,172,960 (GRCm39)	V483A	probably benign	Het
Aif1	C	T	17: 35,390,472 (GRCm39)	V93M	probably damaging	Het
Alpk2	A	G	18: 65,439,705 (GRCm39)	S563P	probably benign	Het
Ank2	A	T	3: 126,752,581 (GRCm39)	N378K	probably damaging	Het
Ano4	C	T	10: 88,828,732 (GRCm39)		probably null	Het
Asxl3	G	A	18: 22,658,497 (GRCm39)	C2169Y	probably damaging	Het
Atp2b1	T	C	10: 98,852,821 (GRCm39)	C101R	probably damaging	Het
Bcs1l	C	T	1: 74,629,844 (GRCm39)	R224C	probably damaging	Het
Car2	T	C	3: 14,951,710 (GRCm39)		probably benign	Het
Cbln1	T	C	8: 88,198,657 (GRCm39)	N71S	probably benign	Het
Cdh8	T	A	8: 99,950,579 (GRCm39)	T224S	probably benign	Het
Cdin1	A	G	2: 115,462,462 (GRCm39)	I65V	probably benign	Het
Cep131	G	A	11: 119,956,218 (GRCm39)	R1014W	probably damaging	Het
Cfap61	T	C	2: 145,887,363 (GRCm39)	S603P	possibly damaging	Het
Chd8	G	T	14: 52,464,125 (GRCm39)	L659I	probably benign	Het
Ckap5	G	A	2: 91,387,920 (GRCm39)	G255D	probably benign	Het
Clec18a	C	A	8: 111,807,572 (GRCm39)	W126L	probably benign	Het
Cux1	T	A	5: 136,596,085 (GRCm39)	N4Y	probably damaging	Het
Dgcr8	A	T	16: 18,101,693 (GRCm39)	Y196*	probably null	Het
Dnah14	A	T	1: 181,468,970 (GRCm39)	I1267F	probably benign	Het
Dock7	T	C	4: 98,949,529 (GRCm39)	N438D	probably benign	Het
Elp1	T	C	4: 56,771,555 (GRCm39)	D914G	possibly damaging	Het
Fpr-rs6	A	T	17: 20,403,100 (GRCm39)	M87K	possibly damaging	Het
Gabrg1	A	G	5: 70,911,610 (GRCm39)	S339P	probably benign	Het
Gm10801	AAGT	AAGTAGT	2: 98,494,148 (GRCm39)		probably null	Het
Gm12695	A	G	4: 96,651,058 (GRCm39)	S132P	probably damaging	Het
Gm3443	T	A	19: 21,533,128 (GRCm39)	C31S	probably damaging	Het
Gzmf	A	T	14: 56,444,452 (GRCm39)	F40L	probably benign	Het
Herc1	TCCC	TCC	9: 66,408,470 (GRCm39)		probably null	Het
Lrguk	A	G	6: 34,072,522 (GRCm39)	E604G	probably benign	Het
Marveld3	C	A	8: 110,674,732 (GRCm39)	K361N	probably benign	Het
Mgat4b	A	T	11: 50,121,525 (GRCm39)	Y47F	probably damaging	Het
Mmel1	G	T	4: 154,976,885 (GRCm39)	E520*	probably null	Het
Msantd5f6	A	T	4: 73,321,843 (GRCm39)	M64K	possibly damaging	Het
Muc21	T	C	17: 35,934,057 (GRCm39)		probably benign	Het
Myod1	A	G	7: 46,027,741 (GRCm39)	T294A	probably benign	Het
Nfix	A	T	8: 85,454,276 (GRCm39)	S219T	probably damaging	Het
Nr4a2	A	G	2: 57,001,920 (GRCm39)	F115L	probably benign	Het
Numa1	A	C	7: 101,641,845 (GRCm39)	M98L	probably benign	Het
Or5b105	T	C	19: 13,080,567 (GRCm39)	I28V	probably benign	Het
P3h1	C	T	4: 119,095,151 (GRCm39)	L303F	possibly damaging	Het
Pias4	G	A	10: 80,993,080 (GRCm39)	T5I	probably damaging	Het
Pik3ip1	A	G	11: 3,282,124 (GRCm39)	N68S	probably benign	Het
Pkdrej	T	C	15: 85,702,850 (GRCm39)	T1029A	probably benign	Het
Recql	A	T	6: 142,310,278 (GRCm39)	D517E	probably benign	Het
Sall2	G	T	14: 52,552,078 (GRCm39)	H372Q	probably damaging	Het
Scn8a	A	C	15: 100,930,096 (GRCm39)	I1436L	probably benign	Het
Slc4a5	T	C	6: 83,273,729 (GRCm39)		probably null	Het
Stox2	A	C	8: 47,639,500 (GRCm39)	F898C	probably damaging	Het
Sumo2	A	T	11: 115,414,601 (GRCm39)		probably null	Het
Sycp2	C	T	2: 178,025,345 (GRCm39)	E366K	possibly damaging	Het
Tanc1	A	G	2: 59,622,150 (GRCm39)	K423R	probably benign	Het
Tbx21	T	A	11: 97,005,872 (GRCm39)	Q31L	possibly damaging	Het
Tfap2a	T	A	13: 40,882,230 (GRCm39)	N25I	probably damaging	Het
Tfdp1	C	T	8: 13,420,485 (GRCm39)	R105W	probably damaging	Het
Trav18	G	A	14: 54,069,122 (GRCm39)	V55I	probably benign	Het
Trgc1	A	T	13: 19,400,646 (GRCm39)	D125V	unknown	Het
Trim55	A	G	3: 19,726,938 (GRCm39)	D335G	probably benign	Het
Trim71	T	A	9: 114,341,772 (GRCm39)	T837S	probably benign	Het
Vmn1r56	T	C	7: 5,198,961 (GRCm39)	T219A	probably benign	Het
Vmn2r17	A	T	5: 109,575,695 (GRCm39)	T189S	probably benign	Het
Xaf1	A	G	11: 72,197,461 (GRCm39)	T146A	probably benign	Het
Zdbf2	T	C	1: 63,343,679 (GRCm39)	V686A	possibly damaging	Het
Zfp65	T	C	13: 67,856,130 (GRCm39)	H383R	probably damaging	Het
Zfp932	A	G	5: 110,157,606 (GRCm39)	T435A	probably damaging	Het
Zfp947	C	T	17: 22,364,750 (GRCm39)	G308D	probably benign	Het
Zswim3	T	A	2: 164,662,771 (GRCm39)	V417E	probably damaging	Het

Other mutations in Dock8

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
R1163:Dock8	UTSW	19	25,028,867 (GRCm39)	missense	probably benign
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
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

PCR Primer
(F):5'- GGCCTGGATTCTGTAAAGCAC -3'
(R):5'- GCAATCTAATCTGCCACACTGTAC -3'

Sequencing Primer
(F):5'- TGTAAAGCACTGCGATGTCC -3'
(R):5'- CCTTGTCTGATGGAGAGTTACAGC -3'

Posted On

2018-08-29