Mutagenetix > Incidental Mutation

Incidental Mutation 'R1633:Dock8'

172950

Institutional Source

Beutler Lab

Gene Symbol

Dock8

Ensembl Gene

ENSMUSG00000052085

Gene Name

dedicator of cytokinesis 8

Synonyms

1200017A24Rik, 5830472H07Rik, A130095G14Rik

MMRRC Submission

039670-MU

Accession Numbers

Essential gene?

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

Stock #

R1633 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

24976898-25179796 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 25028927 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 44 (T44A)

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: T44A

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000025831
Gene: ENSMUSG00000052085
AA Change: T44A

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

0.0593

Coding Region Coverage

1x: 98.8%
3x: 97.7%
10x: 93.9%
20x: 83.9%

Validation Efficiency

94% (68/72)

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acmsd	C	T	1: 127,681,592 (GRCm39)	A185V	probably benign	Het
Acsl6	T	C	11: 54,219,224 (GRCm39)		probably benign	Het
Arel1	A	G	12: 84,973,057 (GRCm39)	F580S	probably damaging	Het
Arhgef19	T	C	4: 140,965,871 (GRCm39)		probably benign	Het
Bpifb3	T	A	2: 153,764,504 (GRCm39)	L132Q	probably damaging	Het
Cacna2d1	T	A	5: 16,525,114 (GRCm39)	D516E	probably damaging	Het
Ccar1	T	C	10: 62,586,793 (GRCm39)	R882G	unknown	Het
Cep162	T	C	9: 87,085,736 (GRCm39)	E1196G	probably benign	Het
Cpt1b	T	C	15: 89,303,018 (GRCm39)	T649A	probably damaging	Het
Cttnbp2	A	T	6: 18,435,166 (GRCm39)	S231T	probably damaging	Het
Edrf1	T	C	7: 133,253,869 (GRCm39)	S536P	probably damaging	Het
Eif5	T	A	12: 111,506,721 (GRCm39)	N104K	probably damaging	Het
Enpp3	T	C	10: 24,671,680 (GRCm39)	Y438C	probably damaging	Het
Ess2	A	G	16: 17,727,831 (GRCm39)	V116A	probably benign	Het
Galnt4	T	C	10: 98,945,814 (GRCm39)	V513A	possibly damaging	Het
Gdpd5	T	C	7: 99,097,720 (GRCm39)	I172T	probably benign	Het
Ggt7	C	T	2: 155,344,608 (GRCm39)	G245D	probably damaging	Het
Gm5884	A	T	6: 128,623,028 (GRCm39)		noncoding transcript	Het
Herc2	G	A	7: 55,879,117 (GRCm39)	G4669R	probably null	Het
Hydin	T	A	8: 111,233,614 (GRCm39)	D1817E	probably benign	Het
Igf2r	A	C	17: 12,945,196 (GRCm39)	N359K	probably benign	Het
Itgb4	T	C	11: 115,898,586 (GRCm39)	F1722L	probably damaging	Het
Itih3	T	A	14: 30,639,355 (GRCm39)	E406V	possibly damaging	Het
Lamc2	A	T	1: 153,017,444 (GRCm39)	C514*	probably null	Het
Mepe	G	T	5: 104,485,540 (GRCm39)	V227F	probably benign	Het
Nadk	C	T	4: 155,661,642 (GRCm39)	T56I	probably damaging	Het
Nedd4	G	A	9: 72,578,539 (GRCm39)	V84I	possibly damaging	Het
Nipal3	C	A	4: 135,174,659 (GRCm39)	R364L	probably benign	Het
Nkx2-9	T	C	12: 56,659,766 (GRCm39)	R27G	probably benign	Het
Noc2l	T	A	4: 156,329,750 (GRCm39)	S600T	probably benign	Het
Or1l4b	T	A	2: 37,036,983 (GRCm39)	I253N	probably damaging	Het
Or1o3	T	A	17: 37,574,553 (GRCm39)	M1L	probably benign	Het
Or2c1	A	C	16: 3,657,396 (GRCm39)	K186N	probably damaging	Het
Pax6	A	T	2: 105,522,063 (GRCm39)	E240V	probably damaging	Het
Pdilt	T	G	7: 119,087,217 (GRCm39)	T478P	probably damaging	Het
Phldb1	T	A	9: 44,629,619 (GRCm39)	I25F	probably damaging	Het
Rad50	C	T	11: 53,583,686 (GRCm39)	R365Q	probably benign	Het
Rdh10	A	G	1: 16,198,420 (GRCm39)	E186G	possibly damaging	Het
Rdh12	A	T	12: 79,265,498 (GRCm39)	E224V	probably damaging	Het
Reck	T	C	4: 43,922,964 (GRCm39)	V413A	possibly damaging	Het
Scn8a	A	G	15: 100,927,696 (GRCm39)	I1392V	probably benign	Het
Simc1	G	A	13: 54,673,044 (GRCm39)	G464D	probably benign	Het
Srf	A	T	17: 46,862,534 (GRCm39)	V318E	probably damaging	Het
Stab1	T	C	14: 30,872,337 (GRCm39)		probably null	Het
Stk3	T	C	15: 34,959,206 (GRCm39)	D322G	probably damaging	Het
Stxbp4	A	G	11: 90,430,986 (GRCm39)		probably benign	Het
Sult2a1	A	G	7: 13,535,351 (GRCm39)	I234T	probably benign	Het
Syne1	A	G	10: 5,299,388 (GRCm39)	F956L	probably damaging	Het
Tasor2	A	T	13: 3,631,771 (GRCm39)	I910N	possibly damaging	Het
Thsd7a	G	T	6: 12,471,103 (GRCm39)	S505*	probably null	Het
Tmem63a	T	A	1: 180,776,391 (GRCm39)	V67E	probably damaging	Het
Tram2	A	T	1: 21,074,146 (GRCm39)	V264E	probably damaging	Het
Trpv5	A	T	6: 41,652,854 (GRCm39)	C106*	probably null	Het
Tspyl5	T	A	15: 33,686,791 (GRCm39)	K385*	probably null	Het
Vezt	T	A	10: 93,820,138 (GRCm39)	Q409L	probably damaging	Het
Vmn2r79	T	C	7: 86,687,042 (GRCm39)	C808R	possibly damaging	Het
Wdfy3	A	C	5: 102,129,414 (GRCm39)	V4G	probably damaging	Het
Wdr95	A	T	5: 149,516,637 (GRCm39)	I493F	probably damaging	Het
Zfhx4	A	T	3: 5,465,473 (GRCm39)	N1877I	probably damaging	Het
Zfp180	A	G	7: 23,804,226 (GRCm39)	D215G	probably benign	Het
Zfp442	A	T	2: 150,250,260 (GRCm39)	Y490*	probably null	Het
Zfp804b	A	G	5: 7,229,513 (GRCm39)		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
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
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'- TGGAAGTGCTCTGCTCACAACTC -3'
(R):5'- CTGGGCTGTCTCATTCTATACACGC -3'

Sequencing Primer
(F):5'- TCTGCTCACAACTCAGCCAAG -3'
(R):5'- TCATTCTATACACGCCAGAGGG -3'

Posted On

2014-04-24