Mutagenetix > Incidental Mutation

Incidental Mutation 'R8443:Dock8'

654350

Institutional Source

Beutler Lab

Gene Symbol

Dock8

Ensembl Gene

ENSMUSG00000052085

Gene Name

dedicator of cytokinesis 8

Synonyms

A130095G14Rik, 5830472H07Rik, 1200017A24Rik

MMRRC Submission

067825-MU

Accession Numbers

Essential gene?

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

Stock #

R8443 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

24999529-25202432 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 25155917 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 1143 (K1143E)

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: K1143E

PolyPhen 2 Score 0.040 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000025831
Gene: ENSMUSG00000052085
AA Change: K1143E

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: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

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: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2010300C02Rik	A	G	1: 37,613,456 (GRCm38)	V1090A	probably benign	Het
2410089E03Rik	A	G	15: 8,201,151 (GRCm38)	I971V	probably benign	Het
Abcc6	C	T	7: 45,980,025 (GRCm38)	V1293M	probably damaging	Het
Agt	A	G	8: 124,563,798 (GRCm38)	W257R	possibly damaging	Het
Arhgef11	T	A	3: 87,713,099 (GRCm38)	N457K	probably benign	Het
Bcl3	G	T	7: 19,820,157 (GRCm38)	H95Q	probably benign	Het
C1d	T	A	11: 17,263,662 (GRCm38)	N64K	probably damaging	Het
Casc3	C	T	11: 98,822,781 (GRCm38)	R280C	probably damaging	Het
Cd300c2	C	T	11: 115,000,640 (GRCm38)	S136N	probably benign	Het
Cdh8	A	G	8: 99,031,040 (GRCm38)	V642A	possibly damaging	Het
Cep290	A	T	10: 100,495,844 (GRCm38)	I180F	possibly damaging	Het
Copz2	A	G	11: 96,854,061 (GRCm38)	E86G	probably damaging	Het
Csf3r	A	T	4: 126,029,919 (GRCm38)	D74V	possibly damaging	Het
Cyp11b1	T	G	15: 74,838,940 (GRCm38)	E257A	possibly damaging	Het
Dlg2	A	G	7: 92,375,667 (GRCm38)	Q580R	probably damaging	Het
Dnaic2	A	T	11: 114,754,449 (GRCm38)	K570M	unknown	Het
Dxo	T	C	17: 34,839,123 (GRCm38)	S394P	probably benign	Het
Etl4	A	G	2: 20,806,166 (GRCm38)	D1388G	probably benign	Het
F13a1	C	A	13: 37,025,718 (GRCm38)	R91L	probably damaging	Het
Fam35a	A	C	14: 34,267,985 (GRCm38)	N321K	probably benign	Het
Fam50b	C	T	13: 34,746,873 (GRCm38)	R111*	probably null	Het
Fat2	T	G	11: 55,311,709 (GRCm38)	N180H	probably damaging	Het
Fitm2	A	T	2: 163,469,848 (GRCm38)	H148Q	probably benign	Het
Fjx1	A	T	2: 102,450,811 (GRCm38)	S260T	possibly damaging	Het
Fos	T	C	12: 85,475,692 (GRCm38)	L165P	probably damaging	Het
Gm39115	C	A	7: 142,135,973 (GRCm38)	C21F	unknown	Het
Gucy1a1	C	T	3: 82,097,693 (GRCm38)	C595Y	probably damaging	Het
Hectd4	G	T	5: 121,329,109 (GRCm38)	W2478L	possibly damaging	Het
I830077J02Rik	T	A	3: 105,928,744 (GRCm38)	K9N	probably damaging	Het
Ireb2	T	C	9: 54,903,981 (GRCm38)	F723L	possibly damaging	Het
Itpr1	G	A	6: 108,519,348 (GRCm38)	V2580I	probably damaging	Het
Kcnu1	G	A	8: 25,892,064 (GRCm38)	G481R	probably damaging	Het
Kdm3b	G	T	18: 34,793,076 (GRCm38)	A90S	probably benign	Het
Klra8	A	G	6: 130,128,093 (GRCm38)	V23A	probably damaging	Het
Lig4	A	G	8: 9,973,777 (GRCm38)	M1T	probably null	Het
Lpin3	C	T	2: 160,895,353 (GRCm38)	P107S	probably damaging	Het
Lrp1b	T	A	2: 41,375,855 (GRCm38)	K1100*	probably null	Het
Obscn	G	A	11: 59,038,874 (GRCm38)	H5172Y	probably damaging	Het
Olfr1181	A	G	2: 88,423,401 (GRCm38)	I208T	probably benign	Het
Olfr1348	T	A	7: 6,501,735 (GRCm38)	T170S	probably damaging	Het
Olfr290	C	T	7: 84,916,579 (GRCm38)	H267Y	probably benign	Het
Olfr512	T	A	7: 108,714,211 (GRCm38)	M286K	possibly damaging	Het
Olfr892-ps1	A	T	9: 38,190,202 (GRCm38)	H159L	possibly damaging	Het
Orc3	A	G	4: 34,593,173 (GRCm38)	L298P	probably damaging	Het
Otub1	A	G	19: 7,199,995 (GRCm38)	F96L	probably damaging	Het
Pcnx3	A	G	19: 5,686,642 (GRCm38)	S156P	probably benign	Het
Pde3b	A	G	7: 114,526,894 (GRCm38)	M788V	probably damaging	Het
Pias4	A	G	10: 81,157,010 (GRCm38)		probably null	Het
Polg	A	G	7: 79,464,995 (GRCm38)	C73R	probably benign	Het
Ptbp2	T	C	3: 119,747,818 (GRCm38)	Y190C	probably damaging	Het
Rab33b	T	A	3: 51,493,629 (GRCm38)	F175I	probably damaging	Het
Rfx1	A	G	8: 84,079,886 (GRCm38)	T108A	probably benign	Het
Ribc2	A	G	15: 85,135,260 (GRCm38)	D81G	probably benign	Het
Rnf213	T	G	11: 119,449,323 (GRCm38)	M3460R		Het
Rsf1	T	A	7: 97,616,896 (GRCm38)	S86T		Het
Rxfp2	C	A	5: 150,049,603 (GRCm38)	T181N	possibly damaging	Het
Samm50	G	A	15: 84,210,501 (GRCm38)	E365K	possibly damaging	Het
Slc22a18	T	C	7: 143,497,386 (GRCm38)	V334A	probably damaging	Het
Slc23a3	A	T	1: 75,133,441 (GRCm38)	C97S	probably benign	Het
Smchd1	T	A	17: 71,407,249 (GRCm38)	H873L	probably benign	Het
Snrpa1	G	A	7: 66,070,633 (GRCm38)	G195R	probably benign	Het
Sphkap	T	A	1: 83,278,232 (GRCm38)	I599F	probably benign	Het
Stox1	A	G	10: 62,665,764 (GRCm38)	V339A	probably damaging	Het
Tlx1	A	G	19: 45,153,597 (GRCm38)	E220G	probably damaging	Het
Tmem71	C	A	15: 66,541,572 (GRCm38)		probably null	Het
Tmprss3	T	C	17: 31,195,002 (GRCm38)	D56G	possibly damaging	Het
Trabd	A	G	15: 89,085,904 (GRCm38)	R368G	probably benign	Het
Trf	A	G	9: 103,217,476 (GRCm38)	I461T	probably damaging	Het
Trpm3	A	G	19: 22,698,862 (GRCm38)	T133A	possibly damaging	Het
Trpv3	G	A	11: 73,295,383 (GRCm38)	V667I	possibly damaging	Het
Ttc30a1	T	C	2: 75,981,175 (GRCm38)	D188G	probably benign	Het
Vps13b	T	A	15: 35,455,100 (GRCm38)	N718K	probably benign	Het
Zdbf2	T	C	1: 63,306,007 (GRCm38)	S1182P	possibly damaging	Het
Zfp13	T	C	17: 23,576,892 (GRCm38)	D235G	probably benign	Het
Zfp407	T	C	18: 84,209,862 (GRCm38)	E1874G	probably damaging	Het
Zfp503	T	C	14: 21,986,209 (GRCm38)	K213R	probably benign	Het
Zkscan2	A	G	7: 123,485,428 (GRCm38)	V491A	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
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
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
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'- ACATTTCCCACCACTAAGCTTG -3'
(R):5'- ACAGTTCTGAGGTCTTGCTGTAC -3'

Sequencing Primer
(F):5'- TAAGCTTGACCCCTAGCCTAG -3'
(R):5'- CTGAGGTCTTGCTGTACACATAAG -3'

Posted On

2020-10-20