Mutagenetix > Incidental Mutation

Incidental Mutation 'R6223:Dock8'

504173

Institutional Source

Beutler Lab

Gene Symbol

Dock8

Ensembl Gene

ENSMUSG00000052085

Gene Name

dedicator of cytokinesis 8

Synonyms

1200017A24Rik, 5830472H07Rik, A130095G14Rik

MMRRC Submission

044354-MU

Accession Numbers

Essential gene?

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

Stock #

R6223 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

24976898-25179796 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 25138416 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Phenylalanine at position 1247 (Y1247F)

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: Y1247F

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000025831
Gene: ENSMUSG00000052085
AA Change: Y1247F

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: 99.9%
3x: 99.7%
10x: 98.4%
20x: 95.6%

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
6820408C15Rik	A	C	2: 152,269,873 (GRCm39)	R8S	probably benign	Het
Abca8b	A	G	11: 109,868,672 (GRCm39)	V164A	probably benign	Het
Acadm	C	A	3: 153,644,186 (GRCm39)		probably null	Het
Ap3b2	G	A	7: 81,123,210 (GRCm39)	R435*	probably null	Het
Art2b	A	G	7: 101,229,158 (GRCm39)	F247S	possibly damaging	Het
C1rb	T	A	6: 124,551,539 (GRCm39)	D216E	probably benign	Het
Casz1	C	A	4: 149,017,840 (GRCm39)	D90E	probably damaging	Het
Ccdc13	A	G	9: 121,627,975 (GRCm39)		probably benign	Het
Cdc25a	C	A	9: 109,718,842 (GRCm39)	P409T	possibly damaging	Het
Cidea	A	C	18: 67,491,809 (GRCm39)	K23T	possibly damaging	Het
Clspn	T	A	4: 126,479,961 (GRCm39)	D1101E	probably damaging	Het
Col10a1	A	T	10: 34,271,183 (GRCm39)	D385V	probably damaging	Het
Crat	C	T	2: 30,297,042 (GRCm39)	V304I	probably benign	Het
Cyp2d26	A	T	15: 82,675,918 (GRCm39)	W265R	probably benign	Het
Dync2i1	T	C	12: 116,221,078 (GRCm39)	D11G	possibly damaging	Het
Eed	A	G	7: 89,605,495 (GRCm39)	Y365H	probably damaging	Het
Fabp5	T	A	3: 10,080,170 (GRCm39)	F73L	probably benign	Het
Fbn1	C	T	2: 125,254,591 (GRCm39)	C224Y	possibly damaging	Het
Ggcx	T	C	6: 72,406,588 (GRCm39)	F684L	probably damaging	Het
Glrp1	G	A	1: 88,431,164 (GRCm39)	Q69*	probably null	Het
Gm29797	T	C	2: 181,300,850 (GRCm39)	V115A	possibly damaging	Het
Gtf3c1	C	T	7: 125,275,797 (GRCm39)	R543K	probably benign	Het
Ifih1	T	C	2: 62,428,603 (GRCm39)	I891V	probably benign	Het
Ifnar2	C	T	16: 91,184,876 (GRCm39)	T89M	probably damaging	Het
Kat6a	C	A	8: 23,430,442 (GRCm39)	N1932K	unknown	Het
Mgat5	A	T	1: 127,310,716 (GRCm39)	D210V	possibly damaging	Het
Mmel1	A	G	4: 154,956,159 (GRCm39)		probably null	Het
Myh3	G	T	11: 66,988,843 (GRCm39)	V1499L	probably benign	Het
Ncan	A	C	8: 70,562,604 (GRCm39)	D551E	probably benign	Het
Nol11	G	T	11: 107,062,442 (GRCm39)	T598K	possibly damaging	Het
Olfml3	G	A	3: 103,643,776 (GRCm39)	R202W	probably damaging	Het
Or2w4	G	A	13: 21,795,536 (GRCm39)	T201I	probably benign	Het
Or4e2	A	G	14: 52,688,136 (GRCm39)	R89G	probably benign	Het
Pcdh9	T	C	14: 93,253,169 (GRCm39)	K1131E	probably benign	Het
Pcolce	A	G	5: 137,603,561 (GRCm39)	M424T	probably damaging	Het
Pi16	C	A	17: 29,546,413 (GRCm39)	S397*	probably null	Het
Pi4ka	A	T	16: 17,175,435 (GRCm39)	Y464*	probably null	Het
Pik3c2b	T	A	1: 132,998,095 (GRCm39)	L324M	probably damaging	Het
Prdm2	T	C	4: 142,868,777 (GRCm39)	N179S	probably benign	Het
Prss56	C	T	1: 87,113,134 (GRCm39)	P183S	probably benign	Het
Prx	T	G	7: 27,216,261 (GRCm39)	M393R	probably damaging	Het
Qpctl	T	C	7: 18,877,134 (GRCm39)	D328G	probably damaging	Het
Qser1	A	G	2: 104,617,993 (GRCm39)	S940P	probably benign	Het
Rchy1	G	A	5: 92,105,826 (GRCm39)	R41W	probably damaging	Het
Scp2d1	T	C	2: 144,665,868 (GRCm39)	I69T	possibly damaging	Het
Sirpb1a	A	G	3: 15,444,086 (GRCm39)	V388A	probably benign	Het
Ssu2	G	T	6: 112,353,409 (GRCm39)	C238*	probably null	Het
Stub1	C	T	17: 26,051,787 (GRCm39)	G14D	probably damaging	Het
Tab1	T	A	15: 80,032,464 (GRCm39)	C24S	probably damaging	Het
Tdrd1	T	C	19: 56,854,282 (GRCm39)	V1076A	probably damaging	Het
Tex10	T	C	4: 48,468,525 (GRCm39)	R134G	probably damaging	Het
Tg	T	A	15: 66,579,771 (GRCm39)	N1525K	probably benign	Het
Tll2	G	A	19: 41,124,391 (GRCm39)	T208I	possibly damaging	Het
Tmem232	T	C	17: 65,807,191 (GRCm39)	M1V	probably null	Het
Ttc7b	A	G	12: 100,353,368 (GRCm39)		probably null	Het
Ubb	A	G	11: 62,443,351 (GRCm39)	E127G	possibly damaging	Het
Ulk2	A	T	11: 61,678,330 (GRCm39)	Y796*	probably null	Het
Vdac2	G	A	14: 21,895,246 (GRCm39)	G265R	possibly damaging	Het
Vmn2r45	A	T	7: 8,486,301 (GRCm39)	V329E	probably benign	Het
Zbtb47	G	A	9: 121,592,853 (GRCm39)	R391Q	possibly damaging	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
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
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'- AGCTCATAGCCTAAGCGTATGC -3'
(R):5'- CTGGGTTCTATCAGAAGTTTAGGAG -3'

Sequencing Primer
(F):5'- AGCCTGTCTGCTTTTTCTATATATG -3'
(R):5'- TTTAGGAGGAGGTGACATCAAC -3'

Posted On

2018-02-28