Mutagenetix > Incidental Mutation

Incidental Mutation 'R7257:Dock8'

564382

Institutional Source

Beutler Lab

Gene Symbol

Dock8

Ensembl Gene

ENSMUSG00000052085

Gene Name

dedicator of cytokinesis 8

Synonyms

1200017A24Rik, 5830472H07Rik, A130095G14Rik

MMRRC Submission

045318-MU

Accession Numbers

Essential gene?

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

Stock #

R7257 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

24976898-25179796 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 25104449 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 710 (N710K)

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: N710K

PolyPhen 2 Score 0.084 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000025831
Gene: ENSMUSG00000052085
AA Change: N710K

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

0.0790

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (77/77)

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: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abtb1	A	T	6: 88,816,434 (GRCm39)	V120E	probably benign	Het
Acot11	G	A	4: 106,615,599 (GRCm39)	T284M	probably damaging	Het
Adk	G	T	14: 21,102,739 (GRCm39)	K11N	probably damaging	Het
Akr1c14	T	A	13: 4,138,966 (GRCm39)	N316K	probably benign	Het
AL732309.1	A	T	2: 25,135,851 (GRCm39)	V121D	probably benign	Het
Amh	C	A	10: 80,642,487 (GRCm39)	Q257K	probably benign	Het
Antxrl	T	G	14: 33,787,806 (GRCm39)	H276Q	probably benign	Het
Atp5po	G	A	16: 91,723,755 (GRCm39)	T105M	probably damaging	Het
Atxn2	T	G	5: 121,923,880 (GRCm39)	N734K	possibly damaging	Het
B3gat3	T	A	19: 8,903,102 (GRCm39)	V153D	probably benign	Het
Brd2	A	G	17: 34,332,796 (GRCm39)	V528A	probably damaging	Het
Camk2g	T	C	14: 20,797,907 (GRCm39)	S335G	probably benign	Het
Cbln2	T	A	18: 86,734,859 (GRCm39)	W211R	probably damaging	Het
Cry2	A	T	2: 92,243,326 (GRCm39)	I505N	possibly damaging	Het
Ddx55	T	A	5: 124,698,784 (GRCm39)	C249S	possibly damaging	Het
Dglucy	A	G	12: 100,808,997 (GRCm39)	T232A	probably damaging	Het
Dhx32	A	G	7: 133,361,206 (GRCm39)	Y76H	probably benign	Het
Dmac2l	T	C	12: 69,788,443 (GRCm39)	I114T	probably damaging	Het
Dock7	T	A	4: 98,861,649 (GRCm39)	N1356I	unknown	Het
Dync1i2	T	A	2: 71,079,700 (GRCm39)	N391K	possibly damaging	Het
Ect2	A	G	3: 27,192,684 (GRCm39)	S420P	probably damaging	Het
Efcab5	T	A	11: 77,028,605 (GRCm39)	E242V	probably damaging	Het
Fam83g	T	A	11: 61,575,579 (GRCm39)	Y74N	probably damaging	Het
Fbxo34	T	A	14: 47,738,329 (GRCm39)		probably null	Het
Flt4	A	G	11: 49,516,836 (GRCm39)	T208A	probably benign	Het
Fxyd5	T	A	7: 30,734,576 (GRCm39)	H183L	unknown	Het
Gpr150	T	G	13: 76,204,585 (GRCm39)	D120A	probably benign	Het
Grm7	A	G	6: 110,623,079 (GRCm39)	Y84C	probably damaging	Het
Ighmbp2	A	G	19: 3,316,405 (GRCm39)	S562P	probably damaging	Het
Itga7	A	G	10: 128,780,282 (GRCm39)	Y530C	possibly damaging	Het
Itpr3	T	A	17: 27,337,535 (GRCm39)	D2448E	probably benign	Het
Mmp17	C	A	5: 129,672,697 (GRCm39)	H216Q	probably benign	Het
Mns1	C	T	9: 72,360,097 (GRCm39)	R416W	probably damaging	Het
Mog	A	G	17: 37,334,019 (GRCm39)	S25P	unknown	Het
Myh2	A	G	11: 67,071,976 (GRCm39)	K568R	possibly damaging	Het
Myh7	A	T	14: 55,209,947 (GRCm39)		probably null	Het
Mymk	A	T	2: 26,957,380 (GRCm39)	W79R	probably damaging	Het
Ncoa4	T	G	14: 31,899,326 (GRCm39)	L623R	probably damaging	Het
Oca2	G	A	7: 55,929,286 (GRCm39)		probably benign	Het
Odam	A	C	5: 88,035,404 (GRCm39)	S123R	probably benign	Het
Or14c39	T	A	7: 86,344,012 (GRCm39)	M116K	probably damaging	Het
Or2w1	A	G	13: 21,317,427 (GRCm39)	T161A	probably benign	Het
Or51f1d	T	C	7: 102,700,837 (GRCm39)	F111L	probably benign	Het
Or5d16	A	G	2: 87,773,915 (GRCm39)	F19S	probably damaging	Het
Or6c69	T	A	10: 129,748,156 (GRCm39)		probably benign	Het
Or6c8b	C	T	10: 128,882,324 (GRCm39)	V203M	probably benign	Het
Ovch2	C	T	7: 107,393,640 (GRCm39)	C162Y	probably damaging	Het
Padi1	C	A	4: 140,556,782 (GRCm39)	G142C	probably damaging	Het
Pcdhga4	A	G	18: 37,820,451 (GRCm39)	I667V	probably damaging	Het
Pfas	A	T	11: 68,883,785 (GRCm39)	V624E	probably damaging	Het
Phb1	A	T	11: 95,568,917 (GRCm39)	E184V	probably damaging	Het
Phlpp2	G	T	8: 110,666,820 (GRCm39)	M1116I	probably benign	Het
Pip5kl1	T	C	2: 32,470,443 (GRCm39)		probably null	Het
Pitpnm2	T	A	5: 124,263,419 (GRCm39)	I824F	possibly damaging	Het
Pla2g4c	G	A	7: 13,059,669 (GRCm39)	S2N	possibly damaging	Het
Pla2r1	A	T	2: 60,257,969 (GRCm39)		probably null	Het
Pole2	T	C	12: 69,249,684 (GRCm39)	D521G	probably damaging	Het
Ptch1	T	C	13: 63,721,108 (GRCm39)	K54E	not run	Het
Rapgef2	A	T	3: 78,989,934 (GRCm39)	L931Q	probably damaging	Het
Rassf3	G	A	10: 121,248,924 (GRCm39)	Q206*	probably null	Het
Rnf123	T	A	9: 107,946,228 (GRCm39)	T316S	probably damaging	Het
Rnf138	T	A	18: 21,141,750 (GRCm39)		probably null	Het
Septin3	G	A	15: 82,173,414 (GRCm39)	A249T	probably damaging	Het
Slc35a4	A	T	18: 36,812,669 (GRCm39)	D3V	unknown	Het
Sltm	T	A	9: 70,451,247 (GRCm39)		probably null	Het
Smarca2	C	T	19: 26,631,864 (GRCm39)	Q560*	probably null	Het
Tcl1b1	A	T	12: 105,130,790 (GRCm39)	D91V	probably damaging	Het
Tirap	A	T	9: 35,100,330 (GRCm39)	V118E	probably damaging	Het
Tlr5	T	A	1: 182,801,798 (GRCm39)	Y367*	probably null	Het
Tmcc1	A	G	6: 116,084,299 (GRCm39)	F5L	probably benign	Het
Tnxb	A	G	17: 34,935,475 (GRCm39)	M2592V	probably benign	Het
Trim66	T	A	7: 109,059,451 (GRCm39)	E931V	probably damaging	Het
Ttn	A	G	2: 76,571,438 (GRCm39)	I26485T	probably damaging	Het
Veph1	C	A	3: 66,065,703 (GRCm39)	V455L	probably benign	Het
Vmn1r125	A	T	7: 21,006,750 (GRCm39)	H216L	probably damaging	Het
Wdr17	T	A	8: 55,085,522 (GRCm39)	E1200D	probably benign	Het
Zbtb37	T	A	1: 160,860,231 (GRCm39)	N25Y	probably 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
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
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'- AGACAAAGGCCTCTGACTCC -3'
(R):5'- GGTATACAACATAGGACCTTTTGAC -3'

Sequencing Primer
(F):5'- TCCCAAGTCTAGCTATGGACG -3'
(R):5'- CTCCAACTCATGCTGTAGGTAGG -3'

Posted On

2019-06-26