Mutagenetix > Incidental Mutation

Incidental Mutation 'R9509:Dock8'

718052

Institutional Source

Beutler Lab

Gene Symbol

Dock8

Ensembl Gene

ENSMUSG00000052085

Gene Name

dedicator of cytokinesis 8

Synonyms

A130095G14Rik, 5830472H07Rik, 1200017A24Rik

MMRRC Submission

Accession Numbers

Essential gene?

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

Stock #

R9509 (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 25095621 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Glycine at position 422 (S422G)

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: S422G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000025831
Gene: ENSMUSG00000052085
AA Change: S422G

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: 99.6%
20x: 98.6%

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: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	TTCCTCCTCCTCCTCCTCCTCC	TTCCTCCTCCTCCTCCTCC	3: 138,065,834 (GRCm38)		probably benign	Het
2310035C23Rik	A	G	1: 105,686,979 (GRCm38)	E216G	probably damaging	Het
4932415D10Rik	A	T	10: 82,296,395 (GRCm38)	N260K	probably benign	Het
5830411N06Rik	T	A	7: 140,299,731 (GRCm38)	Y1093*	probably null	Het
Acan	C	T	7: 79,091,020 (GRCm38)	P378L	probably damaging	Het
Akap6	A	G	12: 53,142,238 (GRCm38)	D2145G	probably damaging	Het
Akap9	A	T	5: 4,046,349 (GRCm38)	D2408V	probably benign	Het
Apol10a	C	A	15: 77,488,768 (GRCm38)	Y201*	probably null	Het
Arhgef4	T	C	1: 34,723,691 (GRCm38)	I676T	unknown	Het
Capn13	T	C	17: 73,337,451 (GRCm38)	H361R	probably benign	Het
Ccdc88a	G	A	11: 29,464,143 (GRCm38)	V894I	probably benign	Het
Chd4	T	A	6: 125,122,522 (GRCm38)	L1655Q	possibly damaging	Het
Chil1	G	A	1: 134,188,675 (GRCm38)	E307K	probably damaging	Het
Dhfr	T	A	13: 92,368,231 (GRCm38)	I139N	probably damaging	Het
Dspp	C	A	5: 104,177,791 (GRCm38)	D673E	unknown	Het
Dst	G	T	1: 33,908,384 (GRCm38)	W38L	possibly damaging	Het
Dynlt1b	A	T	17: 6,435,016 (GRCm38)	E26D	probably benign	Het
Dysf	A	T	6: 84,210,797 (GRCm38)	Y2059F	probably damaging	Het
Efcab5	G	A	11: 77,104,151 (GRCm38)	S1198F	possibly damaging	Het
Erp44	T	C	4: 48,208,750 (GRCm38)	I237V	probably benign	Het
Exosc2	G	A	2: 31,674,743 (GRCm38)	V107I	probably benign	Het
Fat2	A	G	11: 55,309,887 (GRCm38)	V787A	possibly damaging	Het
Fbn2	C	G	18: 58,114,478 (GRCm38)	G448A	probably benign	Het
Fbxw21	A	G	9: 109,148,149 (GRCm38)	V164A	possibly damaging	Het
Gabpa	G	A	16: 84,852,507 (GRCm38)	V201I	possibly damaging	Het
Gm12253	G	A	11: 58,439,945 (GRCm38)	V177M	probably benign	Het
Il2rb	C	A	15: 78,490,216 (GRCm38)	W84L	probably damaging	Het
Kank4	T	A	4: 98,774,867 (GRCm38)	T695S	possibly damaging	Het
Klhl29	T	C	12: 5,140,629 (GRCm38)	Q122R	probably damaging	Het
L3mbtl1	A	G	2: 162,967,383 (GRCm38)	E670G	probably damaging	Het
Lifr	A	G	15: 7,159,474 (GRCm38)	Y112C	probably damaging	Het
Lins1	C	T	7: 66,708,371 (GRCm38)	Q85*	probably null	Het
Lpcat1	T	A	13: 73,494,832 (GRCm38)	V175E	probably damaging	Het
Mdm1	T	C	10: 118,146,825 (GRCm38)	S122P	probably damaging	Het
Mtfmt	C	T	9: 65,435,865 (GRCm38)	R18C	probably benign	Het
Mylk4	T	C	13: 32,720,560 (GRCm38)	N197S	probably benign	Het
Neurl4	T	A	11: 69,902,145 (GRCm38)	L83*	probably null	Het
Nlrc3	T	C	16: 3,964,816 (GRCm38)	D259G	probably damaging	Het
Nsf	A	T	11: 103,863,248 (GRCm38)	D487E	probably benign	Het
Olfr138	A	G	17: 38,275,390 (GRCm38)	I206M	probably benign	Het
Olfr1385	A	G	11: 49,494,649 (GRCm38)	I39V	probably benign	Het
Olfr469	T	A	7: 107,823,233 (GRCm38)	T79S	probably benign	Het
Palb2	T	A	7: 122,128,176 (GRCm38)	K157M	probably damaging	Het
Pbrm1	T	C	14: 31,084,957 (GRCm38)	S1114P	probably damaging	Het
Pdia6	T	A	12: 17,280,988 (GRCm38)	M364K	probably damaging	Het
Pf4	G	T	5: 90,773,189 (GRCm38)	G83W	probably damaging	Het
Pibf1	T	C	14: 99,101,285 (GRCm38)	M79T	probably benign	Het
Polr3b	T	G	10: 84,631,786 (GRCm38)	Y77D	probably damaging	Het
Pomt2	T	A	12: 87,138,028 (GRCm38)	H208L	possibly damaging	Het
Pprc1	A	T	19: 46,063,399 (GRCm38)	K456M	unknown	Het
Rasgef1a	A	T	6: 118,084,430 (GRCm38)	K119*	probably null	Het
Rbbp6	T	A	7: 122,998,568 (GRCm38)	Y701N	unknown	Het
Reln	A	T	5: 22,344,200 (GRCm38)	V70E	possibly damaging	Het
Rgs17	T	C	10: 5,862,576 (GRCm38)	N41S	probably benign	Het
Rhbdf1	A	T	11: 32,215,055 (GRCm38)	I106N	possibly damaging	Het
Robo1	T	A	16: 72,962,279 (GRCm38)	N393K	probably damaging	Het
Rsf1	CGGCGGCGG	CGGCGGCGGGGGCGGCGG	7: 97,579,920 (GRCm38)		probably benign	Het
Scnn1a	A	T	6: 125,342,641 (GRCm38)	D495V	probably damaging	Het
Serpinf2	G	A	11: 75,438,069 (GRCm38)	P45L	probably benign	Het
Setdb1	A	C	3: 95,354,589 (GRCm38)	I122S	possibly damaging	Het
Slc4a9	A	T	18: 36,535,390 (GRCm38)	M701L	probably damaging	Het
Supv3l1	T	C	10: 62,429,632 (GRCm38)	T710A	probably benign	Het
Syne1	A	T	10: 5,348,927 (GRCm38)		probably null	Het
Tenm3	A	T	8: 48,313,257 (GRCm38)	Y743*	probably null	Het
Tgm2	A	T	2: 158,127,290 (GRCm38)	Y388*	probably null	Het
Tmem55a	T	A	4: 14,892,485 (GRCm38)	C116*	probably null	Het
Tor3a	A	G	1: 156,655,929 (GRCm38)	S308P	possibly damaging	Het
Trim12a	T	C	7: 104,304,344 (GRCm38)	K187E	probably benign	Het
Trpc1	C	T	9: 95,743,196 (GRCm38)		probably null	Het
Uaca	C	T	9: 60,872,216 (GRCm38)	T1295M	possibly damaging	Het
Ush2a	T	A	1: 188,916,243 (GRCm38)	Y4682N	probably damaging	Het
Vldlr	A	G	19: 27,244,287 (GRCm38)	N684S	probably benign	Het
Vmn2r72	T	A	7: 85,754,867 (GRCm38)	I39L	probably benign	Het
Vps13b	A	T	15: 35,841,311 (GRCm38)	M2496L	possibly damaging	Het
Zbtb5	C	T	4: 44,994,332 (GRCm38)	V351M	probably damaging	Het
Zeb2	T	A	2: 44,997,864 (GRCm38)	T394S	possibly damaging	Het
Zfp352	A	G	4: 90,224,706 (GRCm38)	E361G	probably damaging	Het
Zfp54	C	A	17: 21,434,367 (GRCm38)	Y374*	probably null	Het
Zfp869	C	A	8: 69,706,946 (GRCm38)	G326W	probably damaging	Het
Zfyve28	C	T	5: 34,197,548 (GRCm38)	A806T	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
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
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'- CCCATCAGAGTAGCTACTGTCAC -3'
(R):5'- CCAAGCATGTGCAGTTTAGTCG -3'

Sequencing Primer
(F):5'- GAGTAGCTACTGTCACCCCATG -3'
(R):5'- ATGTGCAGTTTAGTCGTCTATTTATG -3'

Posted On

2022-07-18