Mutagenetix > Incidental Mutation

Incidental Mutation 'R1163:Dock8'

100738

Institutional Source

Beutler Lab

Gene Symbol

Dock8

Ensembl Gene

ENSMUSG00000052085

Gene Name

dedicator of cytokinesis 8

Synonyms

A130095G14Rik, 5830472H07Rik, 1200017A24Rik

MMRRC Submission

039236-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.087) question?

Stock #

R1163 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

24999529-25202432 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 25051503 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 24 (I24V)

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: I24V

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

SMART Domains

Protein: ENSMUSP00000025831
Gene: ENSMUSG00000052085
AA Change: I24V

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: 99.1%
3x: 98.3%
10x: 96.3%
20x: 92.7%

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: 90 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700113H08Rik	T	A	10: 87,121,422 (GRCm38)	Y7N	probably damaging	Het
4930579F01Rik	T	G	3: 138,176,510 (GRCm38)	D18A	probably damaging	Het
Abca8a	T	C	11: 110,071,530 (GRCm38)	D499G	probably benign	Het
Adamts1	G	C	16: 85,802,637 (GRCm38)	A25G	probably benign	Het
Adamts2	A	T	11: 50,779,714 (GRCm38)	I552F	probably damaging	Het
Akap3	A	G	6: 126,864,787 (GRCm38)	D123G	probably damaging	Het
Ankar	C	T	1: 72,688,705 (GRCm38)	V350I	possibly damaging	Het
Apob	A	G	12: 8,011,654 (GRCm38)	T3379A	probably damaging	Het
Ash1l	G	T	3: 89,035,263 (GRCm38)		probably null	Het
Atp2b1	T	C	10: 98,979,851 (GRCm38)	I119T	possibly damaging	Het
B3gnt2	A	T	11: 22,836,558 (GRCm38)	M210K	probably benign	Het
Bcl11a	A	G	11: 24,165,143 (GRCm38)	N829D	probably benign	Het
Btnl4	T	C	17: 34,470,075 (GRCm38)	E337G	possibly damaging	Het
Casr	A	T	16: 36,494,807 (GRCm38)	V967D	probably damaging	Het
Cd200	A	T	16: 45,392,352 (GRCm38)	V244D	probably damaging	Het
Cd200r4	A	G	16: 44,838,020 (GRCm38)	N256D	probably benign	Het
Cep68	A	G	11: 20,240,539 (GRCm38)	S158P	probably damaging	Het
Chst10	A	T	1: 38,871,702 (GRCm38)	V123D	probably damaging	Het
Cobll1	T	C	2: 65,098,279 (GRCm38)	H938R	probably damaging	Het
Creld2	G	A	15: 88,820,631 (GRCm38)	W103*	probably null	Het
Dmkn	T	G	7: 30,765,051 (GRCm38)	C205G	probably damaging	Het
Dpp3	C	T	19: 4,914,923 (GRCm38)	W488*	probably null	Het
Dpp9	C	A	17: 56,199,426 (GRCm38)	A365S	possibly damaging	Het
Egfr	A	T	11: 16,883,546 (GRCm38)	T605S	probably benign	Het
Eme2	G	A	17: 24,892,918 (GRCm38)	S263F	probably damaging	Het
Fam83g	T	C	11: 61,703,436 (GRCm38)	S599P	probably damaging	Het
Fscn1	G	T	5: 142,960,843 (GRCm38)	W132L	probably damaging	Het
Gbp2b	A	G	3: 142,599,096 (GRCm38)	T98A	probably damaging	Het
Gm13088	A	G	4: 143,656,634 (GRCm38)	L5P	probably damaging	Het
Gm4922	C	T	10: 18,783,721 (GRCm38)	A418T	possibly damaging	Het
Golgb1	G	T	16: 36,916,126 (GRCm38)	V1912L	possibly damaging	Het
Gon4l	T	C	3: 88,892,535 (GRCm38)	L829P	probably damaging	Het
Grm3	T	A	5: 9,570,738 (GRCm38)	I169L	probably benign	Het
Gsdma2	A	G	11: 98,650,858 (GRCm38)	D137G	probably damaging	Het
Hhip	T	C	8: 79,992,476 (GRCm38)	Y474C	probably damaging	Het
Hsph1	A	T	5: 149,630,801 (GRCm38)	V163E	probably damaging	Het
Ifi203	T	C	1: 173,924,137 (GRCm38)	K373E	probably damaging	Het
Itsn2	A	G	12: 4,712,009 (GRCm38)	T1540A	probably benign	Het
Kdm1b	T	C	13: 47,071,922 (GRCm38)	V527A	probably benign	Het
Kdm5d	G	A	Y: 898,029 (GRCm38)	A22T	probably benign	Het
Khdrbs1	A	T	4: 129,725,586 (GRCm38)	F254Y	possibly damaging	Het
Kif26a	T	C	12: 112,179,945 (GRCm38)	F1822L	probably benign	Het
Krt1	C	A	15: 101,848,165 (GRCm38)	E308*	probably null	Het
Lrrc47	T	A	4: 154,011,817 (GRCm38)	M1K	probably null	Het
Mrgpra4	A	T	7: 47,981,476 (GRCm38)	W126R	probably damaging	Het
Nlrp4e	G	A	7: 23,320,972 (GRCm38)	V295I	probably benign	Het
Olfr1100	A	G	2: 86,978,676 (GRCm38)	L40P	probably damaging	Het
Olfr1258	G	T	2: 89,930,105 (GRCm38)	V99F	possibly damaging	Het
Olfr1446	T	A	19: 12,890,149 (GRCm38)	T143S	probably benign	Het
Olfr201	A	G	16: 59,269,155 (GRCm38)	S171P	probably benign	Het
Olfr206	A	T	16: 59,345,062 (GRCm38)	I213N	probably damaging	Het
Olfr228	A	T	2: 86,483,238 (GRCm38)	F168Y	probably damaging	Het
Olfr364-ps1	A	T	2: 37,147,027 (GRCm38)	T272S	probably damaging	Het
Olfr453	G	A	6: 42,744,123 (GRCm38)	V29I	probably benign	Het
Olfr798	A	G	10: 129,625,647 (GRCm38)	V138A	possibly damaging	Het
Plec	G	T	15: 76,183,838 (GRCm38)	N1190K	possibly damaging	Het
Plin1	T	C	7: 79,729,971 (GRCm38)	T44A	probably damaging	Het
Pou3f2	TTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	TTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	4: 22,487,697 (GRCm38)		probably benign	Het
Psg27	A	G	7: 18,565,309 (GRCm38)	L29P	probably damaging	Het
Psmd13	C	A	7: 140,897,454 (GRCm38)	T292N	probably damaging	Het
Rab1b	A	T	19: 5,104,656 (GRCm38)	Y88*	probably null	Het
Reln	T	A	5: 21,899,029 (GRCm38)	I3315L	probably benign	Het
Rmdn2	A	T	17: 79,659,451 (GRCm38)	M257L	probably benign	Het
Rnd1	A	T	15: 98,676,554 (GRCm38)	F47L	probably damaging	Het
Rnf41	G	A	10: 128,438,207 (GRCm38)	V243I	probably benign	Het
Rnf43	C	G	11: 87,729,513 (GRCm38)	S226R	probably damaging	Het
Scn5a	A	T	9: 119,533,927 (GRCm38)	D542E	probably damaging	Het
Sema5b	A	T	16: 35,628,096 (GRCm38)	I81F	probably benign	Het
Serinc5	G	A	13: 92,682,777 (GRCm38)	C73Y	probably damaging	Het
Serpina3g	A	T	12: 104,239,292 (GRCm38)	N97Y	possibly damaging	Het
Shq1	A	G	6: 100,637,072 (GRCm38)	S262P	probably damaging	Het
Smad4	A	T	18: 73,648,907 (GRCm38)	I428N	probably damaging	Het
Snip1	G	T	4: 125,072,820 (GRCm38)	G348W	probably damaging	Het
Spg11	A	G	2: 122,070,941 (GRCm38)	L1506P	probably damaging	Het
Stard9	G	A	2: 120,696,213 (GRCm38)	V984I	possibly damaging	Het
Svopl	A	T	6: 38,029,700 (GRCm38)	F121I	possibly damaging	Het
Tjp1	A	T	7: 65,323,054 (GRCm38)	V546E	probably damaging	Het
Tmem116	T	A	5: 121,493,756 (GRCm38)	F110L	probably damaging	Het
Ttyh2	C	T	11: 114,710,888 (GRCm38)	T446M	probably benign	Het
Tubb1	A	T	2: 174,457,739 (GRCm38)	I405L	probably benign	Het
Uba5	A	T	9: 104,055,826 (GRCm38)	F155L	possibly damaging	Het
Ubd	C	T	17: 37,195,321 (GRCm38)	H33Y	probably damaging	Het
Ube2cbp	A	T	9: 86,440,595 (GRCm38)	D175E	probably benign	Het
Usp24	A	G	4: 106,420,960 (GRCm38)	Q2293R	probably benign	Het
Vmn1r175	T	A	7: 23,808,512 (GRCm38)	H230L	probably benign	Het
Vmn1r88	A	G	7: 13,178,133 (GRCm38)	I139V	probably benign	Het
Vmn2r1	T	C	3: 64,086,625 (GRCm38)	F131L	probably benign	Het
Yipf3	T	C	17: 46,251,229 (GRCm38)		probably null	Het
Zdhhc19	A	G	16: 32,506,440 (GRCm38)	K192R	probably benign	Het
Zfy1	G	A	Y: 725,611 (GRCm38)	T718I	probably damaging	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
IGL02728:Dock8	APN	19	25,132,220 (GRCm38)	missense	probably benign
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
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

Predicted Primers

Posted On

2014-01-15