Mutagenetix > Incidental Mutation

Incidental Mutation 'R4897:Dock8'

375855

Institutional Source

Beutler Lab

Gene Symbol

Dock8

Ensembl Gene

ENSMUSG00000052085

Gene Name

dedicator of cytokinesis 8

Synonyms

1200017A24Rik, 5830472H07Rik, A130095G14Rik

MMRRC Submission

042501-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.092) question?

Stock #

R4897 (G1)

Quality Score

208

Status

Validated

Chromosome

Chromosomal Location

24976898-25179796 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 25159001 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Alanine at position 1720 (S1720A)

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: S1720A

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000025831
Gene: ENSMUSG00000052085
AA Change: S1720A

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.6%
20x: 93.1%

Validation Efficiency

100% (79/79)

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: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930402F06Rik	C	A	2: 35,266,309 (GRCm39)	M120I	probably damaging	Het
4933427D14Rik	A	T	11: 72,082,342 (GRCm39)	L328Q	probably damaging	Het
Adgrv1	A	C	13: 81,709,704 (GRCm39)		probably null	Het
Ankrd46	A	T	15: 36,484,279 (GRCm39)		probably benign	Het
Arhgef18	A	T	8: 3,494,979 (GRCm39)	M413L	probably benign	Het
Atp6v1e1	G	A	6: 120,781,044 (GRCm39)	T87M	probably null	Het
Bap1	T	C	14: 30,980,402 (GRCm39)		probably benign	Het
Brf1	A	G	12: 112,929,507 (GRCm39)	L385P	probably benign	Het
C1qtnf1	A	T	11: 118,338,938 (GRCm39)	N203Y	probably damaging	Het
Catsperb	A	T	12: 101,569,025 (GRCm39)	N899I	probably damaging	Het
Ccnjl	A	C	11: 43,470,718 (GRCm39)	D162A	probably damaging	Het
Cd248	A	C	19: 5,119,195 (GRCm39)	I348L	probably benign	Het
Cdc20	T	C	4: 118,293,029 (GRCm39)	T265A	probably benign	Het
Cdca5	T	A	19: 6,140,427 (GRCm39)	L196*	probably null	Het
Cdk4	T	A	10: 126,900,444 (GRCm39)		probably benign	Het
Cldn10	G	A	14: 119,025,725 (GRCm39)	G53S	possibly damaging	Het
Clec4b2	G	T	6: 123,177,999 (GRCm39)	E105*	probably null	Het
Dapk1	T	A	13: 60,909,600 (GRCm39)	D1404E	probably benign	Het
Dnah1	T	C	14: 30,989,496 (GRCm39)	Y3308C	probably damaging	Het
Dnah17	A	C	11: 117,969,419 (GRCm39)	Y2260D	probably damaging	Het
Erc1	A	G	6: 119,754,947 (GRCm39)		probably null	Het
Ergic1	A	G	17: 26,848,597 (GRCm39)	I66V	probably benign	Het
Fam186a	T	C	15: 99,843,158 (GRCm39)	T1029A	possibly damaging	Het
Fat4	A	T	3: 39,034,781 (GRCm39)	Y2811F	probably damaging	Het
Flt3	A	G	5: 147,306,110 (GRCm39)	M310T	probably damaging	Het
Ganab	T	A	19: 8,892,355 (GRCm39)	C844S	probably benign	Het
Gas2l2	C	A	11: 83,320,041 (GRCm39)	V72F	probably damaging	Het
Gm14401	T	A	2: 176,778,573 (GRCm39)	C220S	probably damaging	Het
Hmmr	A	T	11: 40,619,261 (GRCm39)	V73E	probably benign	Het
Idi2l	T	G	13: 8,990,637 (GRCm39)		probably benign	Het
Ifih1	G	T	2: 62,465,358 (GRCm39)		probably benign	Het
Jak3	A	G	8: 72,138,048 (GRCm39)	E833G	probably damaging	Het
Lama2	TTTGCGCATT	TTT	10: 26,919,639 (GRCm39)		probably null	Het
Ldb1	G	A	19: 46,023,132 (GRCm39)	A217V	probably benign	Het
Lrrc8c	A	G	5: 105,755,955 (GRCm39)	T577A	probably benign	Het
Mfn1	T	A	3: 32,600,711 (GRCm39)		probably benign	Het
Mki67	G	A	7: 135,298,474 (GRCm39)	P2187S	probably damaging	Het
Mrc1	T	A	2: 14,323,952 (GRCm39)	D1096E	probably benign	Het
Msi1	A	G	5: 115,573,654 (GRCm39)		probably benign	Het
Msto1	T	A	3: 88,819,559 (GRCm39)	I152F	probably benign	Het
Myo9a	A	G	9: 59,803,800 (GRCm39)	R2060G	probably benign	Het
Nnt	A	T	13: 119,541,107 (GRCm39)	C44*	probably null	Het
Nup210l	A	G	3: 90,100,378 (GRCm39)	D1468G	probably damaging	Het
Or1j16	T	C	2: 36,530,906 (GRCm39)	L285P	probably damaging	Het
Or4c10b	A	G	2: 89,711,476 (GRCm39)	E102G	probably benign	Het
Or5d46	C	A	2: 88,174,686 (GRCm39)	C129F	possibly damaging	Het
Or7a40	T	C	16: 16,491,482 (GRCm39)	D121G	probably damaging	Het
P2rx3	G	A	2: 84,855,270 (GRCm39)	T62I	probably damaging	Het
Pabpc4l	G	T	3: 46,401,578 (GRCm39)	T22K	probably damaging	Het
Pcdha7	A	G	18: 37,108,646 (GRCm39)	D557G	probably damaging	Het
Pcdhb20	A	G	18: 37,639,298 (GRCm39)	K608R	possibly damaging	Het
Pcnx1	A	G	12: 81,964,939 (GRCm39)	S369G	probably damaging	Het
Plod1	T	C	4: 148,004,736 (GRCm39)	I455V	probably benign	Het
Prune2	A	T	19: 17,099,219 (GRCm39)	E1574D	probably benign	Het
Ptar1	T	A	19: 23,680,472 (GRCm39)	L96H	probably damaging	Het
Rabgap1	T	C	2: 37,450,583 (GRCm39)	S904P	probably benign	Het
Rps6ka4	C	T	19: 6,815,467 (GRCm39)	V176I	probably benign	Het
Rufy4	T	C	1: 74,186,822 (GRCm39)	C537R	probably damaging	Het
Runx1t1	T	A	4: 13,771,459 (GRCm39)	M1K	probably null	Het
Serinc4	T	A	2: 121,282,905 (GRCm39)	Y419F	probably damaging	Het
Serpina12	A	T	12: 104,004,056 (GRCm39)	M192K	possibly damaging	Het
Spata21	T	A	4: 140,832,261 (GRCm39)	M474K	probably damaging	Het
Stpg1	T	C	4: 135,246,676 (GRCm39)	S135P	possibly damaging	Het
Tdrkh	A	G	3: 94,336,671 (GRCm39)	D481G	probably damaging	Het
Ube2e1	A	C	14: 18,285,268 (GRCm38)	S68R	probably damaging	Het
Vcpip1	A	C	1: 9,817,572 (GRCm39)	N270K	probably damaging	Het
Vmn2r79	T	C	7: 86,650,675 (GRCm39)	F154L	probably benign	Het
Vwa3b	A	G	1: 37,153,684 (GRCm39)		probably benign	Het
Xdh	C	A	17: 74,207,703 (GRCm39)	V885L	probably benign	Het
Zfp141	A	T	7: 42,125,629 (GRCm39)	V281D	probably benign	Het
Zfp317	T	A	9: 19,558,143 (GRCm39)	I119N	probably benign	Het
Zfp345	G	A	2: 150,314,608 (GRCm39)	R310C	probably benign	Het
Zfp760	G	A	17: 21,942,229 (GRCm39)	C468Y	probably benign	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
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

PCR Primer
(F):5'- CAGAAGCTCACAGGTTGGAAC -3'
(R):5'- GCAATTGTGGACATGGACGTC -3'

Sequencing Primer
(F):5'- AGACTCGTAGCAATCATGGTCTG -3'
(R):5'- GGACGTCTCCACTGGACCAATC -3'

Posted On

2016-03-17