Mutagenetix > Incidental Mutation

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

Essential gene?

Probably non essential (E-score: 0.087) 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 (GRCm38)

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]

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: 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 (GRCm38)		probably benign	Het
Als2	A	G	1: 59,196,347 (GRCm38)	V726A	probably benign	Het
Apba1	G	A	19: 23,944,905 (GRCm38)	G779E	possibly damaging	Het
Atr	T	A	9: 95,936,475 (GRCm38)	V2167E	probably damaging	Het
Bod1l	T	C	5: 41,826,503 (GRCm38)	K566E	probably damaging	Het
Btd	T	C	14: 31,667,362 (GRCm38)	F347L	probably benign	Het
Btg2	T	C	1: 134,078,905 (GRCm38)		probably benign	Het
Cblb	T	A	16: 52,183,309 (GRCm38)	S717T	probably benign	Het
Cep250	T	A	2: 155,983,278 (GRCm38)		probably benign	Het
Cep350	T	C	1: 155,953,222 (GRCm38)	N312S	probably benign	Het
Clasp1	A	T	1: 118,602,377 (GRCm38)	T1490S	probably damaging	Het
Col7a1	T	A	9: 108,984,104 (GRCm38)	C2906S	probably benign	Het
Csmd1	C	T	8: 15,999,779 (GRCm38)		probably null	Het
Cspg4	T	A	9: 56,886,481 (GRCm38)	V500E	probably damaging	Het
Cyp7b1	T	A	3: 18,072,575 (GRCm38)	D469V	probably damaging	Het
Dhh	A	T	15: 98,894,311 (GRCm38)		probably null	Het
Dhrs3	A	G	4: 144,920,072 (GRCm38)	R231G	probably damaging	Het
Disp3	A	G	4: 148,272,038 (GRCm38)	S122P	probably damaging	Het
Dnah1	T	C	14: 31,283,998 (GRCm38)	I2275V	probably benign	Het
Eef1d	A	G	15: 75,903,096 (GRCm38)	L154P	probably damaging	Het
Eif4ebp1	C	A	8: 27,273,482 (GRCm38)	P101Q	possibly damaging	Het
Eif4g1	T	G	16: 20,686,752 (GRCm38)		probably benign	Het
Emb	A	G	13: 117,232,765 (GRCm38)	M50V	probably benign	Het
Eml4	T	C	17: 83,473,139 (GRCm38)		probably null	Het
Fkbp10	G	T	11: 100,415,977 (GRCm38)	R65L	probably damaging	Het
Gm10436	G	T	12: 88,176,022 (GRCm38)	H275Q	probably benign	Het
Gm5878	T	C	6: 85,118,592 (GRCm38)	N83S	probably benign	Het
Gm8165	C	T	14: 43,676,237 (GRCm38)	A57T	unknown	Het
Gpr179	A	G	11: 97,337,900 (GRCm38)	V1143A	probably damaging	Het
Hat1	T	C	2: 71,421,260 (GRCm38)	Y218H	probably damaging	Het
Hfm1	T	A	5: 106,878,823 (GRCm38)	N885I	probably benign	Het
Inha	T	C	1: 75,509,447 (GRCm38)	S129P	probably damaging	Het
Ints9	T	C	14: 64,993,008 (GRCm38)	I128T	probably damaging	Het
Klra9	T	C	6: 130,191,186 (GRCm38)		probably null	Het
Lrba	A	G	3: 86,776,049 (GRCm38)	E2726G	probably damaging	Het
Lrp1b	T	C	2: 40,801,398 (GRCm38)	N3356D	probably benign	Het
Map3k5	A	G	10: 20,118,292 (GRCm38)	D1008G	possibly damaging	Het
Med4	T	A	14: 73,517,975 (GRCm38)	L241Q	possibly damaging	Het
Mtch1	A	G	17: 29,338,742 (GRCm38)	V254A	possibly damaging	Het
Napg	C	T	18: 62,994,304 (GRCm38)		probably benign	Het
Olfr173	C	T	16: 58,797,480 (GRCm38)	R122H	probably benign	Het
Olfr339	T	C	2: 36,422,144 (GRCm38)	S249P	possibly damaging	Het
Olfr823	T	A	10: 130,112,618 (GRCm38)	R57S	probably damaging	Het
Olfr853	A	G	9: 19,537,846 (GRCm38)	F28S	possibly damaging	Het
Olfr924	T	C	9: 38,848,926 (GRCm38)	S271P	probably damaging	Het
Pias1	G	T	9: 62,923,645 (GRCm38)	N160K	possibly damaging	Het
Pias1	T	A	9: 62,923,644 (GRCm38)	S161C	probably damaging	Het
Pigp	G	A	16: 94,367,607 (GRCm38)	P37S	probably damaging	Het
Pik3c2b	T	A	1: 133,092,327 (GRCm38)	V1070E	probably benign	Het
Prepl	T	C	17: 85,070,582 (GRCm38)	T457A	probably damaging	Het
Psg23	G	A	7: 18,606,928 (GRCm38)	A467V	probably benign	Het
Rad54l	T	C	4: 116,122,949 (GRCm38)	R13G	probably benign	Het
Rassf5	T	C	1: 131,180,599 (GRCm38)	D248G	probably damaging	Het
Rspo1	A	G	4: 125,005,162 (GRCm38)	N92S	probably damaging	Het
Scube1	G	A	15: 83,659,016 (GRCm38)		probably benign	Het
Sec31b	C	A	19: 44,523,115 (GRCm38)	V616F	probably damaging	Het
Sema3a	T	C	5: 13,565,914 (GRCm38)	V435A	probably damaging	Het
Slc7a10	T	A	7: 35,197,698 (GRCm38)	I208N	probably damaging	Het
Stab2	A	T	10: 86,856,556 (GRCm38)	M2151K	possibly damaging	Het
Tacc1	T	C	8: 25,175,219 (GRCm38)	D50G	probably damaging	Het
Tas2r121	G	T	6: 132,700,517 (GRCm38)	T164N	probably damaging	Het
Tatdn2	T	C	6: 113,704,715 (GRCm38)	W570R	probably damaging	Het
Telo2	A	T	17: 25,104,654 (GRCm38)	F600I	probably damaging	Het
Trim36	T	A	18: 46,172,602 (GRCm38)	H426L	probably benign	Het
Trpm6	A	T	19: 18,809,652 (GRCm38)	N531Y	possibly damaging	Het
Ttc30a1	T	A	2: 75,980,849 (GRCm38)	M297L	probably benign	Het
Ttc39a	T	C	4: 109,442,723 (GRCm38)	C470R	probably damaging	Het
Ttn	C	T	2: 76,784,939 (GRCm38)	E8485K	probably damaging	Het
Ubr4	A	T	4: 139,468,811 (GRCm38)	I1253F	probably damaging	Het
Unc79	A	T	12: 103,122,429 (GRCm38)	H1724L	possibly damaging	Het
Vmn1r40	T	A	6: 89,715,016 (GRCm38)	C89S	probably benign	Het
Wdr55	A	G	18: 36,763,382 (GRCm38)	E375G	probably benign	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
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
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

2015-04-16