Mutagenetix > Incidental Mutation

Incidental Mutation 'R0294:Dock8'

26320

Institutional Source

Beutler Lab

Gene Symbol

Dock8

Ensembl Gene

ENSMUSG00000052085

Gene Name

dedicator of cytokinesis 8

Synonyms

1200017A24Rik, 5830472H07Rik, A130095G14Rik

MMRRC Submission

038511-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.083) question?

Stock #

R0294 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

24976898-25179796 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 25165714 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 1866 (I1866T)

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 damaging
Transcript: ENSMUST00000025831
AA Change: I1866T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000025831
Gene: ENSMUSG00000052085
AA Change: I1866T

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: 99.2%
3x: 98.5%
10x: 97.0%
20x: 95.4%

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930527J03Rik	ACCC	ACC	1: 178,276,503 (GRCm38)		noncoding transcript	Het
Aadat	A	G	8: 60,987,642 (GRCm39)	E319G	possibly damaging	Het
Abca13	A	G	11: 9,219,122 (GRCm39)		probably null	Het
Actl7b	A	T	4: 56,740,848 (GRCm39)	L170Q	possibly damaging	Het
Adam29	C	A	8: 56,326,311 (GRCm39)	V48L	probably benign	Het
Aknad1	A	G	3: 108,682,508 (GRCm39)	Y528C	probably damaging	Het
Alas1	T	A	9: 106,118,455 (GRCm39)	K222N	probably damaging	Het
Aplf	A	G	6: 87,623,227 (GRCm39)	V284A	probably benign	Het
Atp11a	G	A	8: 12,877,524 (GRCm39)	V317M	probably benign	Het
Bub3	A	G	7: 131,169,953 (GRCm39)	E206G	possibly damaging	Het
Cblb	T	G	16: 51,956,187 (GRCm39)	F263L	probably damaging	Het
Ces2h	T	A	8: 105,743,236 (GRCm39)	M157K	probably benign	Het
Cfh	A	G	1: 140,110,999 (GRCm39)	F6L	probably benign	Het
Chst1	G	T	2: 92,443,987 (GRCm39)	R153L	probably damaging	Het
Cimap2	T	C	4: 106,470,361 (GRCm39)	D232G	probably damaging	Het
Cntnap5a	T	A	1: 115,843,046 (GRCm39)	N121K	probably benign	Het
Crybg1	A	T	10: 43,862,372 (GRCm39)	S1467R	probably damaging	Het
Cyp2d22	A	G	15: 82,258,646 (GRCm39)	F72L	possibly damaging	Het
Dmrt2	C	T	19: 25,655,435 (GRCm39)	P345S	probably damaging	Het
Egfem1	A	G	3: 29,744,270 (GRCm39)	N503S	probably damaging	Het
Ehbp1	T	C	11: 22,045,427 (GRCm39)	D774G	probably benign	Het
Foxp2	C	A	6: 15,376,773 (GRCm39)		probably benign	Het
Gins3	T	C	8: 96,364,547 (GRCm39)	V99A	possibly damaging	Het
Grm1	A	T	10: 10,956,143 (GRCm39)	I47N	probably damaging	Het
H2aj	C	G	6: 136,785,602 (GRCm39)	R89G	probably damaging	Het
Hsdl2	T	A	4: 59,601,408 (GRCm39)	S127T	probably benign	Het
Il5ra	A	T	6: 106,689,362 (GRCm39)	M410K	probably benign	Het
Ints7	A	G	1: 191,344,003 (GRCm39)	S548G	possibly damaging	Het
Kcnt1	A	G	2: 25,778,122 (GRCm39)	E80G	probably damaging	Het
Lgr6	T	A	1: 135,032,799 (GRCm39)	Q27L	unknown	Het
Lgr6	A	G	1: 134,915,629 (GRCm39)	V373A	probably damaging	Het
Map3k14	T	C	11: 103,117,963 (GRCm39)	I610V	possibly damaging	Het
Marf1	C	T	16: 13,960,398 (GRCm39)	A549T	probably damaging	Het
Metap1d	T	A	2: 71,352,889 (GRCm39)	H239Q	probably benign	Het
Mgst2	A	G	3: 51,589,251 (GRCm39)	Y88C	probably damaging	Het
Mroh4	T	C	15: 74,477,998 (GRCm39)	N903D	probably benign	Het
Nbeal2	T	G	9: 110,461,927 (GRCm39)	D1476A	probably damaging	Het
Nlgn1	C	A	3: 26,187,625 (GRCm39)	A87S	probably benign	Het
Nln	C	T	13: 104,189,087 (GRCm39)	G295S	probably damaging	Het
Nnt	T	A	13: 119,472,803 (GRCm39)	Y719F	probably benign	Het
Nnt	T	G	13: 119,474,953 (GRCm39)	I659L	possibly damaging	Het
Or2z8	C	T	8: 72,812,244 (GRCm39)	T240M	probably damaging	Het
Or51b17	A	T	7: 103,542,137 (GRCm39)	H268Q	probably benign	Het
Or52s6	G	A	7: 103,092,291 (GRCm39)	T13I	possibly damaging	Het
Or5p78	A	T	7: 108,212,357 (GRCm39)	Y281F	probably damaging	Het
Or9g4	A	G	2: 85,505,060 (GRCm39)	V145A	probably damaging	Het
Otogl	C	T	10: 107,613,089 (GRCm39)	C2041Y	probably damaging	Het
Patj	G	T	4: 98,385,285 (GRCm39)	D300Y	probably damaging	Het
Pkhd1l1	A	T	15: 44,423,831 (GRCm39)	E3124D	probably benign	Het
Plbd2	A	G	5: 120,625,514 (GRCm39)		probably null	Het
Pphln1	T	C	15: 93,318,171 (GRCm39)	Y57H	probably damaging	Het
Ppp1r16b	C	T	2: 158,588,523 (GRCm39)	T78M	probably damaging	Het
Prss40	T	G	1: 34,595,162 (GRCm39)	D224A	possibly damaging	Het
Senp6	A	G	9: 80,021,007 (GRCm39)		probably null	Het
Shank3	A	G	15: 89,416,301 (GRCm39)	E666G	probably damaging	Het
Slc13a1	T	A	6: 24,090,779 (GRCm39)	I547F	possibly damaging	Het
Slc17a3	C	T	13: 24,039,841 (GRCm39)	S293F	probably damaging	Het
Slc22a18	G	A	7: 143,046,578 (GRCm39)		probably null	Het
Slc5a4b	A	G	10: 75,917,161 (GRCm39)	C292R	probably damaging	Het
Spata31e5	T	C	1: 28,817,744 (GRCm39)	Q96R	probably benign	Het
Sphkap	T	A	1: 83,255,966 (GRCm39)	E594D	possibly damaging	Het
Srpra	T	A	9: 35,126,811 (GRCm39)	M61K	probably damaging	Het
Trmt10c	A	T	16: 55,855,240 (GRCm39)	Y132N	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
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
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'- ACAGGGCAGATTCTGAACTCCCTC -3'
(R):5'- AGGCTCCCTCTTCCCGAAAGTG -3'

Sequencing Primer
(F):5'- CTGAACTCCCTCCCGCC -3'
(R):5'- GGGCGCATTACCTCCTC -3'

Posted On

2013-04-16