Mutagenetix > Incidental Mutation

Incidental Mutation 'R2483:Dock8'

250737

Institutional Source

Beutler Lab

Gene Symbol

Dock8

Ensembl Gene

ENSMUSG00000052085

Gene Name

dedicator of cytokinesis 8

Synonyms

A130095G14Rik, 5830472H07Rik, 1200017A24Rik

MMRRC Submission

040407-MU

Accession Numbers

Essential gene?

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

Stock #

R2483 (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 25079877 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Arginine at position 216 (Q216R)

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: Q216R

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

SMART Domains

Protein: ENSMUSP00000025831
Gene: ENSMUSG00000052085
AA Change: Q216R

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

0.0766

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.5%
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: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A230050P20Rik	A	T	9: 20,873,177 (GRCm38)	I186F	possibly damaging	Het
Adcy1	A	G	11: 7,130,348 (GRCm38)	T364A	probably benign	Het
Adpgk	G	A	9: 59,313,753 (GRCm38)	V281I	probably benign	Het
Akap9	C	A	5: 3,976,235 (GRCm38)	Q1297K	possibly damaging	Het
Ankrd13d	T	C	19: 4,281,940 (GRCm38)	E110G	probably damaging	Het
Ankrd53	A	G	6: 83,763,262 (GRCm38)	E104G	possibly damaging	Het
Ano6	A	T	15: 95,965,974 (GRCm38)	T792S	probably benign	Het
Atm	A	T	9: 53,510,266 (GRCm38)	V715D	probably damaging	Het
Avl9	A	G	6: 56,736,843 (GRCm38)	D362G	probably benign	Het
Bin1	T	A	18: 32,414,227 (GRCm38)	S152R	probably damaging	Het
Bscl2	T	A	19: 8,841,150 (GRCm38)	C40S	probably benign	Het
Btaf1	A	G	19: 36,981,086 (GRCm38)	T668A	probably benign	Het
Btrc	A	G	19: 45,516,058 (GRCm38)	D397G	probably damaging	Het
C530008M17Rik	A	T	5: 76,856,409 (GRCm38)	I206F	probably damaging	Het
Cables2	A	T	2: 180,260,429 (GRCm38)	V379E	probably damaging	Het
Cacna2d2	T	C	9: 107,512,022 (GRCm38)	L228P	probably damaging	Het
Cd109	A	T	9: 78,667,357 (GRCm38)	D541V	probably damaging	Het
Cdh26	A	T	2: 178,466,589 (GRCm38)	S327C	probably damaging	Het
Cep78	T	C	19: 15,960,980 (GRCm38)	K535E	probably damaging	Het
Ces1a	A	G	8: 93,027,341 (GRCm38)	Y345H	probably damaging	Het
Col6a5	C	A	9: 105,864,148 (GRCm38)	R2524I	probably damaging	Het
Dctn1	G	A	6: 83,194,187 (GRCm38)	R661H	probably damaging	Het
Ddias	T	C	7: 92,859,592 (GRCm38)	T372A	probably benign	Het
Dffb	T	C	4: 153,965,519 (GRCm38)	T296A	probably damaging	Het
Emx1	T	C	6: 85,188,255 (GRCm38)	S105P	probably benign	Het
Ep400	T	C	5: 110,719,236 (GRCm38)	Y1014C	unknown	Het
Fam193a	A	T	5: 34,465,758 (GRCm38)	K1230M	possibly damaging	Het
Fgf9	A	G	14: 58,109,571 (GRCm38)	Q207R	probably benign	Het
Gm5460	G	A	14: 34,045,818 (GRCm38)	C461Y	possibly damaging	Het
Gpc1	T	C	1: 92,855,938 (GRCm38)	I249T	probably benign	Het
Htr1d	T	C	4: 136,443,504 (GRCm38)	I348T	probably damaging	Het
Hyal4	A	T	6: 24,765,738 (GRCm38)	S364C	probably damaging	Het
Igfn1	T	C	1: 135,969,537 (GRCm38)	E1097G	probably benign	Het
Igkv1-133	A	T	6: 67,724,960 (GRCm38)	Q16L	probably benign	Het
Kcnh5	A	T	12: 75,114,471 (GRCm38)	I221N	probably damaging	Het
Kmt2a	A	G	9: 44,848,966 (GRCm38)	Y529H	probably damaging	Het
Kyat1	T	C	2: 30,186,698 (GRCm38)	H218R	possibly damaging	Het
Lamb2	T	G	9: 108,480,559 (GRCm38)	C94G	probably damaging	Het
Met	A	T	6: 17,549,086 (GRCm38)	D979V	probably damaging	Het
Midn	A	G	10: 80,150,310 (GRCm38)	D78G	probably benign	Het
Myh1	A	T	11: 67,211,226 (GRCm38)	M811L	probably benign	Het
Myh7	T	C	14: 54,973,381 (GRCm38)	E1693G	probably damaging	Het
Myo15b	A	G	11: 115,864,739 (GRCm38)	T979A	probably benign	Het
Myo18b	A	T	5: 112,858,408 (GRCm38)	C879S	probably damaging	Het
Myom1	A	G	17: 71,077,812 (GRCm38)	T733A	probably damaging	Het
Ndufa9	A	T	6: 126,844,399 (GRCm38)	M76K	possibly damaging	Het
Nectin3	A	G	16: 46,395,179 (GRCm38)	C74R	possibly damaging	Het
Obscn	A	G	11: 59,080,146 (GRCm38)	F2514L	probably damaging	Het
Olfr1241	G	A	2: 89,483,127 (GRCm38)	Q3*	probably null	Het
Olfr510	CAAATA	CA	7: 108,667,662 (GRCm38)		probably null	Het
Olfr653	T	C	7: 104,579,942 (GRCm38)	S99P	probably damaging	Het
P2ry2	A	T	7: 100,998,499 (GRCm38)	S200T	probably benign	Het
Pcdha5	G	T	18: 36,961,489 (GRCm38)	M350I	probably benign	Het
Pcdha5	G	A	18: 36,961,781 (GRCm38)	V448M	probably damaging	Het
Pex12	C	T	11: 83,297,629 (GRCm38)	R180H	possibly damaging	Het
Pkd1l1	A	T	11: 8,962,701 (GRCm38)	V168E	probably damaging	Het
Prokr2	T	A	2: 132,381,175 (GRCm38)	D149V	probably damaging	Het
Rnf123	A	G	9: 108,063,521 (GRCm38)	V707A	probably benign	Het
Ryr2	T	C	13: 11,759,703 (GRCm38)	E1189G	probably damaging	Het
Scarf1	T	C	11: 75,515,291 (GRCm38)	F134L	probably damaging	Het
Sfxn5	A	G	6: 85,332,278 (GRCm38)		probably null	Het
Slc17a5	A	T	9: 78,538,274 (GRCm38)	V433D	probably damaging	Het
Snapc1	A	G	12: 73,964,643 (GRCm38)	T28A	probably benign	Het
Soat1	T	C	1: 156,431,099 (GRCm38)	Y528C	probably damaging	Het
Spem1	G	A	11: 69,821,518 (GRCm38)	R107C	possibly damaging	Het
Srcap	T	C	7: 127,542,147 (GRCm38)	S1639P	probably damaging	Het
Sycp2	A	T	2: 178,374,595 (GRCm38)	N691K	probably damaging	Het
Syne2	A	T	12: 76,095,537 (GRCm38)	I6183F	probably damaging	Het
Tas2r110	A	T	6: 132,868,470 (GRCm38)	M155L	probably benign	Het
Tenm3	G	A	8: 48,240,270 (GRCm38)	T1859I	probably damaging	Het
Thsd7b	T	A	1: 130,103,072 (GRCm38)	V1048D	probably damaging	Het
Tmem55b	C	G	14: 50,930,292 (GRCm38)	V59L	probably damaging	Het
Ttc37	A	G	13: 76,182,867 (GRCm38)	E1472G	probably damaging	Het
Vav3	T	C	3: 109,341,166 (GRCm38)	L43P	probably damaging	Het
Vmn1r30	A	T	6: 58,435,452 (GRCm38)	F132I	probably benign	Het
Vmn2r24	A	G	6: 123,816,038 (GRCm38)	R775G	probably damaging	Het
Vps13c	T	A	9: 67,975,907 (GRCm38)		probably null	Het
Vps37c	T	A	19: 10,706,205 (GRCm38)		probably null	Het
Wwp2	A	G	8: 107,548,535 (GRCm38)	D388G	probably damaging	Het
Xirp2	A	T	2: 67,524,992 (GRCm38)	T3366S	probably benign	Het
Zbtb49	A	C	5: 38,203,357 (GRCm38)		probably benign	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
R1163:Dock8	UTSW	19	25,051,503 (GRCm38)	missense	probably benign
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
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

PCR Primer
(F):5'- ACAGCCTTGAGACATCCCTG -3'
(R):5'- AAGCATCCAGATATTCACGCTG -3'

Sequencing Primer
(F):5'- GCCTTGAGACATCCCTGAGTCTAG -3'
(R):5'- CTGTTCTACAGTGTCAGAGAGCAG -3'

Posted On

2014-12-04