Mutagenetix > Incidental Mutation

Incidental Mutation 'R1164:Dock8'

100887

Institutional Source

Beutler Lab

Gene Symbol

Dock8

Ensembl Gene

ENSMUSG00000052085

Gene Name

dedicator of cytokinesis 8

Synonyms

A130095G14Rik, 5830472H07Rik, 1200017A24Rik

MMRRC Submission

039237-MU

Accession Numbers

Essential gene?

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

Stock #

R1164 (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 25090027 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 345 (Y345C)

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: Y345C

PolyPhen 2 Score 0.445 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000025831
Gene: ENSMUSG00000052085
AA Change: Y345C

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: 99.0%
3x: 98.2%
10x: 96.0%
20x: 91.8%

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca3	T	A	17: 24,402,331 (GRCm38)	M1055K	probably damaging	Het
Adprh	A	T	16: 38,450,340 (GRCm38)	D34E	probably benign	Het
Aldh1a1	A	T	19: 20,617,946 (GRCm38)	M80L	probably benign	Het
Arap2	T	A	5: 62,683,477 (GRCm38)	D682V	probably damaging	Het
Atp4a	T	A	7: 30,717,692 (GRCm38)	L500Q	probably benign	Het
Atp6v1c2	T	C	12: 17,308,316 (GRCm38)	E10G	probably damaging	Het
B4galt2	G	A	4: 117,876,944 (GRCm38)	R299W	possibly damaging	Het
Brinp1	A	C	4: 68,798,691 (GRCm38)	S307A	probably benign	Het
Cacna2d1	G	A	5: 16,361,876 (GRCm38)		probably null	Het
Ccdc3	T	C	2: 5,141,266 (GRCm38)	V137A	possibly damaging	Het
Ccnb1ip1	T	C	14: 50,792,137 (GRCm38)	K156R	possibly damaging	Het
Cfap77	A	T	2: 28,962,688 (GRCm38)	W191R	probably damaging	Het
Chga	A	G	12: 102,563,045 (GRCm38)	E427G	probably damaging	Het
Chrnd	A	T	1: 87,192,545 (GRCm38)	Y32F	probably benign	Het
Cks1b	C	A	3: 89,415,942 (GRCm38)		probably benign	Het
Creld2	G	A	15: 88,820,631 (GRCm38)	W103*	probably null	Het
Dip2a	C	A	10: 76,276,397 (GRCm38)	R1098L	possibly damaging	Het
Dmbx1	T	A	4: 115,918,258 (GRCm38)	H275L	probably damaging	Het
Dmrt2	A	G	19: 25,677,993 (GRCm38)	M319V	possibly damaging	Het
Dpp6	A	G	5: 27,721,105 (GRCm38)	T668A	probably benign	Het
Eef1d	A	G	15: 75,902,677 (GRCm38)		probably null	Het
Epb41l3	A	G	17: 69,274,767 (GRCm38)	T568A	possibly damaging	Het
Erc2	A	G	14: 28,302,972 (GRCm38)	R603G	probably damaging	Het
Fam83d	T	C	2: 158,783,250 (GRCm38)	S254P	probably damaging	Het
Fcgr4	A	T	1: 171,029,170 (GRCm38)	H202L	possibly damaging	Het
Gm38394	G	A	1: 133,659,203 (GRCm38)	T132I	probably damaging	Het
Gm4922	C	T	10: 18,783,721 (GRCm38)	A418T	possibly damaging	Het
Kmo	A	G	1: 175,658,559 (GRCm38)	H416R	probably benign	Het
Lao1	A	G	4: 118,965,405 (GRCm38)	N174S	probably benign	Het
Lrwd1	A	T	5: 136,130,990 (GRCm38)	H406Q	probably benign	Het
Magoh	A	G	4: 107,887,262 (GRCm38)	I143V	probably benign	Het
Mpz	A	G	1: 171,158,439 (GRCm38)	H49R	possibly damaging	Het
Nav1	T	C	1: 135,472,410 (GRCm38)	N474S	probably benign	Het
Ndufb10	T	G	17: 24,722,783 (GRCm38)	E68D	probably benign	Het
Obscn	T	C	11: 59,036,087 (GRCm38)	D5534G	possibly damaging	Het
Olfr1076	C	A	2: 86,508,684 (GRCm38)	T75K	probably damaging	Het
Olfr126	T	A	17: 37,850,684 (GRCm38)	F31I	probably damaging	Het
Olfr1425	A	T	19: 12,074,241 (GRCm38)	Y130*	probably null	Het
Olfr159	T	C	4: 43,770,991 (GRCm38)	T7A	probably benign	Het
Olfr345	A	T	2: 36,640,120 (GRCm38)	Y27F	probably benign	Het
Olfr685	A	T	7: 105,180,833 (GRCm38)	F160Y	probably benign	Het
Padi1	A	T	4: 140,832,329 (GRCm38)	V79E	possibly damaging	Het
Pdha2	A	G	3: 141,211,499 (GRCm38)	Y83H	probably damaging	Het
Phpt1	A	G	2: 25,574,715 (GRCm38)	I42T	probably damaging	Het
Pot1b	A	C	17: 55,674,085 (GRCm38)	S310A	probably benign	Het
Ptpn13	G	A	5: 103,489,773 (GRCm38)	V176I	probably damaging	Het
Ptprf	A	G	4: 118,257,492 (GRCm38)	S189P	probably damaging	Het
Rere	A	T	4: 150,534,884 (GRCm38)	Q381L	unknown	Het
Rfwd3	C	T	8: 111,288,242 (GRCm38)	R326Q	probably damaging	Het
Scn8a	G	A	15: 101,040,162 (GRCm38)	C1804Y	probably benign	Het
Sema3c	G	A	5: 17,678,314 (GRCm38)	D307N	probably benign	Het
Siah2	T	C	3: 58,676,316 (GRCm38)	E183G	probably benign	Het
Smarca5	G	A	8: 80,710,631 (GRCm38)	L699F	probably damaging	Het
Smo	T	A	6: 29,754,719 (GRCm38)	S263T	probably benign	Het
Sox2	A	G	3: 34,650,699 (GRCm38)	E95G	probably damaging	Het
T	T	C	17: 8,439,939 (GRCm38)	S171P	probably benign	Het
Tmc7	G	T	7: 118,542,024 (GRCm38)	A628D	probably benign	Het
Tmem45a2	A	G	16: 57,049,426 (GRCm38)	S52P	probably damaging	Het
Tubb3	C	T	8: 123,421,447 (GRCm38)	A373V	probably damaging	Het
Uhrf1bp1	T	C	17: 27,895,380 (GRCm38)		probably null	Het
Upp2	A	G	2: 58,763,704 (GRCm38)	Y69C	probably damaging	Het
Utp4	A	G	8: 106,900,844 (GRCm38)		probably null	Het
Vmn1r59	T	A	7: 5,454,411 (GRCm38)	M117L	probably benign	Het
Xkr8	T	C	4: 132,732,411 (GRCm38)	S19G	probably benign	Het
Zbtb24	T	C	10: 41,464,527 (GRCm38)	Y518H	probably damaging	Het
Zfp324	T	C	7: 12,971,624 (GRCm38)	I580T	probably benign	Het
Zfp995	G	A	17: 21,879,979 (GRCm38)	H425Y	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
R1163:Dock8	UTSW	19	25,051,503 (GRCm38)	missense	probably benign
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