Mutagenetix > Incidental Mutation

Incidental Mutation 'R7538:Dock8'

583762

Institutional Source

Beutler Lab

Gene Symbol

Dock8

Ensembl Gene

ENSMUSG00000052085

Gene Name

dedicator of cytokinesis 8

Synonyms

A130095G14Rik, 5830472H07Rik, 1200017A24Rik

MMRRC Submission

045610-MU

Accession Numbers

Essential gene?

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

Stock #

R7538 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

24999529-25202432 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 25158418 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 1200 (D1200V)

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: D1200V

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

SMART Domains

Protein: ENSMUSP00000025831
Gene: ENSMUSG00000052085
AA Change: D1200V

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: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

97% (77/79)

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: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts8	C	A	9: 30,953,470	P419H	probably damaging	Het
Adgra3	C	T	5: 49,961,450	V919I	probably benign	Het
Akap12	G	A	10: 4,353,213	V113I	probably damaging	Het
Akr1d1	T	A	6: 37,536,108	I113K	probably benign	Het
Alx3	A	T	3: 107,604,364	I230F	probably damaging	Het
Apob	A	T	12: 8,002,219	D1220V	probably damaging	Het
Ascc3	T	C	10: 50,845,700	L2083P	probably damaging	Het
Atp10b	A	G	11: 43,225,546	I907V	probably benign	Het
B4galnt3	G	T	6: 120,294,423	S46*	probably null	Het
Bfsp1	A	C	2: 143,831,835		probably null	Het
Cant1	G	A	11: 118,411,465	R9W	possibly damaging	Het
Ccdc88a	A	T	11: 29,463,370	H636L	probably benign	Het
Cfi	G	A	3: 129,858,815	R297H	probably benign	Het
Cherp	T	A	8: 72,462,419	Q749L		Het
Clec10a	A	G	11: 70,169,778	D153G	probably benign	Het
Cnga1	T	C	5: 72,612,380	K99E	probably benign	Het
Cyp2r1	A	T	7: 114,562,767	V64D	probably damaging	Het
Dact3	T	A	7: 16,875,518	W32R	probably damaging	Het
Dennd4c	T	C	4: 86,774,516	C88R	probably damaging	Het
Drosha	C	G	15: 12,926,243	S1262W	probably damaging	Het
Dtnb	T	C	12: 3,773,611	M592T	possibly damaging	Het
Eef2k	T	A	7: 120,891,992	V567E	probably benign	Het
Fem1b	A	G	9: 62,811,167	S47P	probably damaging	Het
Fryl	T	C	5: 73,022,676	E2864G	probably benign	Het
Fscn2	A	G	11: 120,367,326	N358S	possibly damaging	Het
Fsip2	T	C	2: 82,988,550	S4876P	possibly damaging	Het
Ggh	C	G	4: 20,049,833	S88C	probably damaging	Het
Grhl2	T	C	15: 37,328,359	Y410H	probably damaging	Het
Gucy2c	C	T	6: 136,709,744	G831D	probably damaging	Het
Hars	A	T	18: 36,771,141	D228E	probably benign	Het
Hdhd5	T	C	6: 120,521,296	D114G	possibly damaging	Het
Kcna2	A	G	3: 107,104,568	Y155C	probably benign	Het
Klc1	A	G	12: 111,785,445	K441R	probably benign	Het
Kmt2a	A	G	9: 44,847,744	L936P	probably damaging	Het
Map3k6	T	C	4: 133,251,927	V1197A	probably benign	Het
Mthfsd	C	T	8: 121,098,786	A349T	probably benign	Het
Mtmr7	G	A	8: 40,597,384	R123W	probably damaging	Het
Muc16	G	A	9: 18,655,451	T1924I	unknown	Het
Muc16	T	A	9: 18,642,131	I4289F	probably benign	Het
Mybpc3	A	C	2: 91,120,487	D220A	probably damaging	Het
Neb	A	T	2: 52,256,575		probably null	Het
Nectin2	A	G	7: 19,730,619	W287R	probably damaging	Het
Nipsnap1	A	T	11: 4,884,089	T114S	probably damaging	Het
Nol9	T	C	4: 152,039,658	S102P	probably benign	Het
Olfml2b	A	T	1: 170,649,833	K179I	possibly damaging	Het
Olfr1253	G	T	2: 89,752,321	P169H	probably damaging	Het
Pcnt	T	C	10: 76,399,939	M1403V	probably benign	Het
Phf7	T	C	14: 31,238,429	D284G	probably benign	Het
Pias3	A	G	3: 96,702,218	T319A	possibly damaging	Het
Pik3ip1	A	T	11: 3,333,558	I189F	probably damaging	Het
Pik3r1	T	A	13: 101,689,406	T371S	probably damaging	Het
Prmt7	A	G	8: 106,237,386	D304G	probably benign	Het
Prpf6	T	C	2: 181,652,455	V818A	probably benign	Het
Pstpip2	A	G	18: 77,871,605	E185G	probably damaging	Het
Ptprz1	T	G	6: 22,999,896	F662V	possibly damaging	Het
Rasgrp3	T	C	17: 75,496,416	F70L	probably benign	Het
Rcor1	A	T	12: 111,067,837		probably null	Het
Rnasel	A	G	1: 153,754,560	K274R	probably benign	Het
Rsbn1l	G	A	5: 20,896,457	T695I	probably benign	Het
Rsf1	GGCG	GGCGACGGCCGCG	7: 97,579,906		probably benign	Het
Sema3a	T	C	5: 13,561,820	V351A	probably benign	Het
Serpina12	A	G	12: 104,038,328	L15P	unknown	Het
Siah1a	G	A	8: 86,725,212	R215C	probably benign	Het
Sin3a	T	A	9: 57,103,926	V489D	possibly damaging	Het
Slc22a17	A	G	14: 54,912,118	I208T	probably benign	Het
Slc36a4	G	A	9: 15,734,215	V313M	possibly damaging	Het
Sod1	T	A	16: 90,226,226	L145*	probably null	Het
Svep1	T	C	4: 58,053,260	N3362D	possibly damaging	Het
Taf4b	T	C	18: 14,813,545	L475P	probably damaging	Het
Telo2	G	T	17: 25,110,821	T239K	probably benign	Het
Trmt11	T	G	10: 30,560,874	D290A	probably damaging	Het
Trpc4	A	T	3: 54,318,095	D955V	possibly damaging	Het
Trpv6	T	C	6: 41,626,167	N257S	probably benign	Het
Usp12	T	C	5: 146,794,620	T15A	probably benign	Het
Vars2	G	T	17: 35,660,780	Q526K	probably damaging	Het
Vipas39	A	G	12: 87,263,903		probably null	Het
Zfp689	A	T	7: 127,444,838	C207S	probably damaging	Het
Zfpl1	C	A	19: 6,084,402	E18*	probably null	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
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'- CACATGGTCACTGAATTGTCC -3'
(R):5'- ACTAGCCGATCAATGAATGAAGAAC -3'

Sequencing Primer
(F):5'- GGTCACTGAATTGTCCAGGATAC -3'
(R):5'- AAAGGTTTAGTGACCACTGCTG -3'

Posted On

2019-10-17