Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02728:Dock8'

305334

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

Is this an essential gene?

Probably non essential (E-score: 0.090) question?

Stock #

IGL02728

Quality Score

Status

Chromosome

Chromosomal Location

24999529-25202432 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 25132220 bp

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Threonine at position 922 (N922T)

Ref Sequence

ENSEMBL: ENSMUSP00000025831 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000025831]

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: N922T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000025831
Gene: ENSMUSG00000052085
AA Change: N922T

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

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: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts7	G	T	9: 90,191,827		probably benign	Het
Als2	A	G	1: 59,196,347	V726A	probably benign	Het
Apba1	G	A	19: 23,944,905	G779E	possibly damaging	Het
Atr	T	A	9: 95,936,475	V2167E	probably damaging	Het
Bod1l	T	C	5: 41,826,503	K566E	probably damaging	Het
Btd	T	C	14: 31,667,362	F347L	probably benign	Het
Btg2	T	C	1: 134,078,905		probably benign	Het
Cblb	T	A	16: 52,183,309	S717T	probably benign	Het
Cep250	T	A	2: 155,983,278		probably benign	Het
Cep350	T	C	1: 155,953,222	N312S	probably benign	Het
Clasp1	A	T	1: 118,602,377	T1490S	probably damaging	Het
Col7a1	T	A	9: 108,984,104	C2906S	probably benign	Het
Csmd1	C	T	8: 15,999,779		probably null	Het
Cspg4	T	A	9: 56,886,481	V500E	probably damaging	Het
Cyp7b1	T	A	3: 18,072,575	D469V	probably damaging	Het
Dhh	A	T	15: 98,894,311		probably null	Het
Dhrs3	A	G	4: 144,920,072	R231G	probably damaging	Het
Disp3	A	G	4: 148,272,038	S122P	probably damaging	Het
Dnah1	T	C	14: 31,283,998	I2275V	probably benign	Het
Eef1d	A	G	15: 75,903,096	L154P	probably damaging	Het
Eif4ebp1	C	A	8: 27,273,482	P101Q	possibly damaging	Het
Eif4g1	T	G	16: 20,686,752		probably benign	Het
Emb	A	G	13: 117,232,765	M50V	probably benign	Het
Eml4	T	C	17: 83,473,139		probably null	Het
Fkbp10	G	T	11: 100,415,977	R65L	probably damaging	Het
Gm10436	G	T	12: 88,176,022	H275Q	probably benign	Het
Gm5878	T	C	6: 85,118,592	N83S	probably benign	Het
Gm8165	C	T	14: 43,676,237	A57T	unknown	Het
Gpr179	A	G	11: 97,337,900	V1143A	probably damaging	Het
Hat1	T	C	2: 71,421,260	Y218H	probably damaging	Het
Hfm1	T	A	5: 106,878,823	N885I	probably benign	Het
Inha	T	C	1: 75,509,447	S129P	probably damaging	Het
Ints9	T	C	14: 64,993,008	I128T	probably damaging	Het
Klra9	T	C	6: 130,191,186		probably null	Het
Lrba	A	G	3: 86,776,049	E2726G	probably damaging	Het
Lrp1b	T	C	2: 40,801,398	N3356D	probably benign	Het
Map3k5	A	G	10: 20,118,292	D1008G	possibly damaging	Het
Med4	T	A	14: 73,517,975	L241Q	possibly damaging	Het
Mtch1	A	G	17: 29,338,742	V254A	possibly damaging	Het
Napg	C	T	18: 62,994,304		probably benign	Het
Olfr173	C	T	16: 58,797,480	R122H	probably benign	Het
Olfr339	T	C	2: 36,422,144	S249P	possibly damaging	Het
Olfr823	T	A	10: 130,112,618	R57S	probably damaging	Het
Olfr853	A	G	9: 19,537,846	F28S	possibly damaging	Het
Olfr924	T	C	9: 38,848,926	S271P	probably damaging	Het
Pias1	T	A	9: 62,923,644	S161C	probably damaging	Het
Pias1	G	T	9: 62,923,645	N160K	possibly damaging	Het
Pigp	G	A	16: 94,367,607	P37S	probably damaging	Het
Pik3c2b	T	A	1: 133,092,327	V1070E	probably benign	Het
Prepl	T	C	17: 85,070,582	T457A	probably damaging	Het
Psg23	G	A	7: 18,606,928	A467V	probably benign	Het
Rad54l	T	C	4: 116,122,949	R13G	probably benign	Het
Rassf5	T	C	1: 131,180,599	D248G	probably damaging	Het
Rspo1	A	G	4: 125,005,162	N92S	probably damaging	Het
Scube1	G	A	15: 83,659,016		probably benign	Het
Sec31b	C	A	19: 44,523,115	V616F	probably damaging	Het
Sema3a	T	C	5: 13,565,914	V435A	probably damaging	Het
Slc7a10	T	A	7: 35,197,698	I208N	probably damaging	Het
Stab2	A	T	10: 86,856,556	M2151K	possibly damaging	Het
Tacc1	T	C	8: 25,175,219	D50G	probably damaging	Het
Tas2r121	G	T	6: 132,700,517	T164N	probably damaging	Het
Tatdn2	T	C	6: 113,704,715	W570R	probably damaging	Het
Telo2	A	T	17: 25,104,654	F600I	probably damaging	Het
Trim36	T	A	18: 46,172,602	H426L	probably benign	Het
Trpm6	A	T	19: 18,809,652	N531Y	possibly damaging	Het
Ttc30a1	T	A	2: 75,980,849	M297L	probably benign	Het
Ttc39a	T	C	4: 109,442,723	C470R	probably damaging	Het
Ttn	C	T	2: 76,784,939	E8485K	probably damaging	Het
Ubr4	A	T	4: 139,468,811	I1253F	probably damaging	Het
Unc79	A	T	12: 103,122,429	H1724L	possibly damaging	Het
Vmn1r40	T	A	6: 89,715,016	C89S	probably benign	Het
Wdr55	A	G	18: 36,763,382	E375G	probably benign	Het

Other mutations in Dock8

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
captain_morgan	APN	19	25127711	critical splice donor site	probably benign
primurus	APN	19	25183609	missense	probably damaging	1.00
IGL00737:Dock8	APN	19	25182976	missense	probably benign	0.00
IGL00755:Dock8	APN	19	25051509	missense	probably benign	0.09
IGL00822:Dock8	APN	19	25188409	nonsense	probably null
IGL00838:Dock8	APN	19	25175459	nonsense	probably null
IGL01419:Dock8	APN	19	25119452	missense	probably benign	0.08
IGL01456:Dock8	APN	19	25119499	missense	possibly damaging	0.95
IGL01532:Dock8	APN	19	25169441	missense	probably damaging	0.99
IGL01602:Dock8	APN	19	25089888	splice site	probably benign
IGL01605:Dock8	APN	19	25089888	splice site	probably benign
IGL01753:Dock8	APN	19	25061292	splice site	probably benign
IGL01843:Dock8	APN	19	25089928	missense	probably benign	0.02
IGL02032:Dock8	APN	19	25130405	missense	probably damaging	0.99
IGL02073:Dock8	APN	19	25200986	critical splice acceptor site	probably null
IGL02192:Dock8	APN	19	25078205	critical splice donor site	probably null
IGL02402:Dock8	APN	19	25078145	missense	probably benign	0.25
IGL02529:Dock8	APN	19	25100926	nonsense	probably null
IGL02739:Dock8	APN	19	25188488	missense	probably damaging	1.00
IGL03037:Dock8	APN	19	25086181	missense	probably benign	0.02
IGL03104:Dock8	APN	19	25201020	nonsense	probably null
IGL03137:Dock8	APN	19	25155948	missense	probably benign	0.19
IGL03365:Dock8	APN	19	25099684	missense	possibly damaging	0.70
Defenseless	UTSW	19	25051563	missense	probably benign	0.00
Guardate	UTSW	19	25149831	missense	probably benign
hillock	UTSW	19	25174333	critical splice donor site	probably null
Pap	UTSW	19	25122441	missense	probably benign	0.31
snowdrop	UTSW	19	25184941	critical splice donor site	probably null
warts_and_all	UTSW	19	25169501	critical splice donor site	probably null
R0021:Dock8	UTSW	19	25163047	missense	probably benign	0.01
R0147:Dock8	UTSW	19	25119459	missense	probably benign	0.00
R0148:Dock8	UTSW	19	25119459	missense	probably benign	0.00
R0294:Dock8	UTSW	19	25188350	missense	probably damaging	1.00
R0537:Dock8	UTSW	19	25171577	missense	probably benign	0.08
R0630:Dock8	UTSW	19	25061160	missense	probably benign	0.10
R1163:Dock8	UTSW	19	25051503	missense	probably benign
R1164:Dock8	UTSW	19	25090027	missense	probably benign	0.44
R1471:Dock8	UTSW	19	25201036	missense	possibly damaging	0.74
R1477:Dock8	UTSW	19	25095550	missense	possibly damaging	0.95
R1633:Dock8	UTSW	19	25051563	missense	probably benign	0.00
R1803:Dock8	UTSW	19	25132235	missense	probably benign	0.00
R1822:Dock8	UTSW	19	25161058	missense	probably benign	0.31
R1852:Dock8	UTSW	19	25127128	missense	probably benign	0.45
R1916:Dock8	UTSW	19	25061157	missense	probably benign	0.02
R1984:Dock8	UTSW	19	25121181	missense	probably null	0.95
R2311:Dock8	UTSW	19	25183004	missense	possibly damaging	0.93
R2341:Dock8	UTSW	19	25200393	missense	probably damaging	0.99
R2483:Dock8	UTSW	19	25079877	missense	probably benign
R3116:Dock8	UTSW	19	25188494	missense	probably benign	0.00
R3157:Dock8	UTSW	19	25149831	missense	probably benign
R3623:Dock8	UTSW	19	25079877	missense	probably benign
R3624:Dock8	UTSW	19	25079877	missense	probably benign
R3800:Dock8	UTSW	19	25164352	missense	probably benign	0.08
R3844:Dock8	UTSW	19	25065430	nonsense	probably null
R3895:Dock8	UTSW	19	25051501	missense	probably benign	0.31
R3901:Dock8	UTSW	19	25100905	missense	possibly damaging	0.69
R3959:Dock8	UTSW	19	25184941	critical splice donor site	probably null
R4428:Dock8	UTSW	19	25200499	missense	probably damaging	0.98
R4428:Dock8	UTSW	19	25065390	missense	probably benign	0.00
R4429:Dock8	UTSW	19	25065390	missense	probably benign	0.00
R4431:Dock8	UTSW	19	25065390	missense	probably benign	0.00
R4545:Dock8	UTSW	19	25188358	missense	probably damaging	1.00
R4839:Dock8	UTSW	19	25169494	missense	probably benign	0.00
R4897:Dock8	UTSW	19	25181637	missense	probably benign	0.00
R4939:Dock8	UTSW	19	25122400	missense	probably damaging	1.00
R4995:Dock8	UTSW	19	25158383	missense	probably benign	0.02
R5035:Dock8	UTSW	19	25086207	missense	probably damaging	0.99
R5294:Dock8	UTSW	19	25061153	missense	probably benign	0.01
R5324:Dock8	UTSW	19	25163094	missense	probably benign	0.17
R5478:Dock8	UTSW	19	25079822	missense	probably benign
R5704:Dock8	UTSW	19	25174222	missense	probably damaging	1.00
R5724:Dock8	UTSW	19	25122421	missense	probably damaging	1.00
R5745:Dock8	UTSW	19	25130397	missense	probably benign	0.02
R5864:Dock8	UTSW	19	25061220	missense	probably damaging	0.99
R5870:Dock8	UTSW	19	25132126	missense	probably benign
R5893:Dock8	UTSW	19	25122447	missense	probably damaging	1.00
R5954:Dock8	UTSW	19	25171619	missense	probably damaging	1.00
R6087:Dock8	UTSW	19	25161074	missense	probably benign	0.00
R6223:Dock8	UTSW	19	25161052	missense	probably benign	0.00
R6391:Dock8	UTSW	19	25095550	missense	possibly damaging	0.95
R6759:Dock8	UTSW	19	25127484	missense	probably damaging	0.99
R6786:Dock8	UTSW	19	25183022	missense	possibly damaging	0.49
R6794:Dock8	UTSW	19	25122441	missense	probably benign	0.31
R6818:Dock8	UTSW	19	25169501	critical splice donor site	probably null
R6885:Dock8	UTSW	19	25147378	missense	possibly damaging	0.95
R6908:Dock8	UTSW	19	25188382	missense	probably damaging	1.00
R6923:Dock8	UTSW	19	25095606	missense	probably benign
R7001:Dock8	UTSW	19	25099677	missense	probably benign
R7141:Dock8	UTSW	19	25181620	missense	probably null	0.75
R7203:Dock8	UTSW	19	25181563	missense	probably damaging	1.00
R7257:Dock8	UTSW	19	25127085	missense	probably benign	0.08
R7296:Dock8	UTSW	19	25184881	missense	probably benign	0.00
R7538:Dock8	UTSW	19	25158418	missense	probably damaging	1.00
R7555:Dock8	UTSW	19	25175400	missense	probably damaging	0.99
R7641:Dock8	UTSW	19	25174333	critical splice donor site	probably null
R7764:Dock8	UTSW	19	25097535	missense	probably benign
R7859:Dock8	UTSW	19	25183570	missense	probably damaging	1.00
R7864:Dock8	UTSW	19	25163500	missense	possibly damaging	0.95
R8090:Dock8	UTSW	19	25154242	missense	probably damaging	1.00
R8160:Dock8	UTSW	19	25147347	missense	probably damaging	1.00
R8287:Dock8	UTSW	19	25130461	missense	probably damaging	1.00
R8295:Dock8	UTSW	19	25123236	missense	probably benign	0.04
R8443:Dock8	UTSW	19	25155917	missense	probably benign	0.04
X0027:Dock8	UTSW	19	25161129	missense	probably benign
Z1177:Dock8	UTSW	19	25132123	missense	probably benign	0.05
Z1177:Dock8	UTSW	19	25155972	missense	probably benign	0.16

Posted On

2015-04-16