Mutagenetix > Incidental Mutation

Incidental Mutation 'R4939:Dock8'

382968

Institutional Source

Beutler Lab

Gene Symbol

Dock8

Ensembl Gene

ENSMUSG00000052085

Gene Name

dedicator of cytokinesis 8

Synonyms

1200017A24Rik, 5830472H07Rik, A130095G14Rik

MMRRC Submission

042538-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.092) question?

Stock #

R4939 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

24976898-25179796 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 25099764 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Phenylalanine at position 629 (Y629F)

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: Y629F

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000025831
Gene: ENSMUSG00000052085
AA Change: Y629F

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: 99.1%
3x: 98.4%
10x: 96.6%
20x: 93.4%

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: 85 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamtsl1	A	T	4: 86,161,962 (GRCm39)	Y365F	possibly damaging	Het
Atp2a1	T	C	7: 126,049,288 (GRCm39)	M585V	probably benign	Het
Brca1	A	G	11: 101,398,876 (GRCm39)	V1572A	probably benign	Het
C1ql4	A	T	15: 98,985,521 (GRCm39)	M30K	probably damaging	Het
Ccdc73	A	G	2: 104,822,502 (GRCm39)		probably null	Het
Cdk6	A	T	5: 3,394,377 (GRCm39)	D4V	probably null	Het
Celf3	ACAGCAGCAGCAGCAGCAGCAGCA	ACAGCAGCAGCAGCAGCAGCA	3: 94,395,537 (GRCm39)		probably benign	Het
Clic4	T	C	4: 134,950,852 (GRCm39)	E113G	probably benign	Het
Creld1	C	A	6: 113,465,140 (GRCm39)	H122Q	probably benign	Het
Cyp4a29	G	A	4: 115,104,873 (GRCm39)		probably null	Het
Dnaaf3	A	T	7: 4,530,144 (GRCm39)	S246R	probably damaging	Het
Dnah12	A	T	14: 26,613,481 (GRCm39)	T3925S	probably damaging	Het
Dnajc21	T	A	15: 10,449,683 (GRCm39)	D446V	probably damaging	Het
Duxf4	T	C	10: 58,071,425 (GRCm39)	N263S	probably benign	Het
E2f8	A	T	7: 48,521,886 (GRCm39)	N405K	probably benign	Het
Flg	A	G	3: 93,187,154 (GRCm39)	N202S	probably benign	Het
Glyatl3	A	G	17: 41,220,914 (GRCm39)		probably null	Het
Gm38999	A	G	7: 43,077,885 (GRCm39)	T63A	possibly damaging	Het
Grap	A	G	11: 61,551,124 (GRCm39)	Y52C	probably damaging	Het
Haus2	T	A	2: 120,449,517 (GRCm39)	I187K	probably damaging	Het
Heatr5b	T	C	17: 79,069,689 (GRCm39)	E1686G	probably benign	Het
Herc2	A	G	7: 55,856,484 (GRCm39)	D3944G	probably damaging	Het
Hexd	A	T	11: 121,098,542 (GRCm39)	M9L	probably benign	Het
Hoxa3	T	C	6: 52,147,656 (GRCm39)		probably benign	Het
Hspg2	A	T	4: 137,235,342 (GRCm39)	I126F	probably damaging	Het
Itpr1	T	A	6: 108,417,519 (GRCm39)	C123*	probably null	Het
Jmjd1c	T	A	10: 67,081,916 (GRCm39)	N2346K	possibly damaging	Het
Kctd9	A	G	14: 67,967,135 (GRCm39)	Y37C	probably damaging	Het
Kmt5b	A	C	19: 3,865,245 (GRCm39)	S747R	possibly damaging	Het
Krt26	T	C	11: 99,225,522 (GRCm39)	M320V	probably benign	Het
Lama1	T	G	17: 68,044,470 (GRCm39)	V123G	possibly damaging	Het
Lamc2	T	C	1: 153,002,582 (GRCm39)	D1103G	probably damaging	Het
Lepr	A	T	4: 101,590,635 (GRCm39)	K71I	possibly damaging	Het
Llgl1	A	T	11: 60,600,805 (GRCm39)		probably null	Het
Mcoln2	A	T	3: 145,897,996 (GRCm39)	H39L	probably benign	Het
Mtrex	T	C	13: 113,046,426 (GRCm39)	D308G	possibly damaging	Het
Myh11	T	A	16: 14,057,371 (GRCm39)	T315S	probably benign	Het
Ncapd3	T	C	9: 26,975,165 (GRCm39)		probably null	Het
Nlrp9b	G	T	7: 19,758,421 (GRCm39)	V553F	probably damaging	Het
Nubpl	A	G	12: 52,227,878 (GRCm39)	N129S	probably damaging	Het
Nup214	C	A	2: 31,873,171 (GRCm39)	T255K	probably benign	Het
Or10j3	T	C	1: 173,031,030 (GRCm39)	Y36H	possibly damaging	Het
Or2t46	G	T	11: 58,472,037 (GRCm39)	M122I	probably damaging	Het
Or2y17	A	G	11: 49,231,376 (GRCm39)	T6A	probably benign	Het
Or4d1	G	T	11: 87,804,950 (GRCm39)	P261T	probably damaging	Het
Or52z14	T	C	7: 103,253,458 (GRCm39)	V199A	probably benign	Het
Or5b3	T	A	19: 13,388,219 (GRCm39)	N95K	probably benign	Het
Orc3	G	A	4: 34,593,126 (GRCm39)	Q256*	probably null	Het
Pbrm1	A	G	14: 30,783,580 (GRCm39)	M566V	probably damaging	Het
Pde6b	A	G	5: 108,569,363 (GRCm39)	I357V	probably benign	Het
Pkdrej	A	G	15: 85,704,484 (GRCm39)	I484T	possibly damaging	Het
Plvap	A	G	8: 71,964,083 (GRCm39)	V93A	probably benign	Het
Plxna4	T	C	6: 32,142,697 (GRCm39)	Y1586C	probably damaging	Het
Ppfia4	A	T	1: 134,255,817 (GRCm39)	L196Q	possibly damaging	Het
Ptpn13	T	G	5: 103,665,335 (GRCm39)		probably null	Het
Ranbp17	T	C	11: 33,169,223 (GRCm39)	N997S	probably benign	Het
Rpap2	G	T	5: 107,751,491 (GRCm39)		probably null	Het
Rrm1	T	C	7: 102,116,131 (GRCm39)	V683A	probably benign	Het
Ruvbl1	A	G	6: 88,460,021 (GRCm39)		probably null	Het
Sh3pxd2a	A	G	19: 47,266,843 (GRCm39)	Y277H	probably damaging	Het
Shank1	C	T	7: 43,975,586 (GRCm39)	P477S	unknown	Het
Shtn1	T	C	19: 59,010,633 (GRCm39)	E278G	probably benign	Het
Skap2	T	A	6: 51,899,303 (GRCm39)	I109F	possibly damaging	Het
Slc28a3	A	C	13: 58,706,395 (GRCm39)	I615M	probably benign	Het
Slc4a11	A	G	2: 130,526,788 (GRCm39)	L780P	probably damaging	Het
Slc5a4b	T	C	10: 75,917,301 (GRCm39)	E245G	probably benign	Het
Slfn8	C	T	11: 82,894,111 (GRCm39)	A843T	probably benign	Het
Sncaip	A	T	18: 53,040,335 (GRCm39)	Q843L	possibly damaging	Het
Spidr	T	A	16: 15,958,610 (GRCm39)	K51*	probably null	Het
Spopfm2	A	T	3: 94,083,540 (GRCm39)	Y90*	probably null	Het
Tas2r123	T	C	6: 132,824,808 (GRCm39)	V235A	probably benign	Het
Tgfbr3	T	C	5: 107,278,335 (GRCm39)	D757G	probably benign	Het
Tmem132d	A	T	5: 127,873,139 (GRCm39)	V490D	probably damaging	Het
Top2a	T	A	11: 98,900,918 (GRCm39)	H557L	probably damaging	Het
Trafd1	A	G	5: 121,513,254 (GRCm39)	I328T	probably benign	Het
Trappc11	G	A	8: 47,972,700 (GRCm39)	A291V	probably damaging	Het
Tuba1c	A	G	15: 98,935,835 (GRCm39)	Y432C	probably damaging	Het
Utp11	T	G	4: 124,577,043 (GRCm39)	R109S	possibly damaging	Het
Vmn1r159	T	G	7: 22,542,316 (GRCm39)	T239P	probably damaging	Het
Vwce	A	T	19: 10,622,414 (GRCm39)	N239Y	probably damaging	Het
Yes1	T	C	5: 32,802,457 (GRCm39)		probably null	Het
Zfand6	A	C	7: 84,265,030 (GRCm39)	*224G	probably null	Het
Zfp408	A	T	2: 91,475,450 (GRCm39)	I668N	probably damaging	Het
Zfp647	TGCACG	TGCACGCACG	15: 76,795,244 (GRCm39)		probably null	Het
Zfp946	T	C	17: 22,674,418 (GRCm39)	F391L	probably damaging	Het

Other mutations in Dock8

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
captain_morgan	APN	19	25,105,076 (GRCm39)	critical splice donor site	probably benign
primurus	APN	19	25,160,973 (GRCm39)	missense	probably damaging	1.00
IGL00737:Dock8	APN	19	25,160,340 (GRCm39)	missense	probably benign	0.00
IGL00755:Dock8	APN	19	25,028,873 (GRCm39)	missense	probably benign	0.09
IGL00822:Dock8	APN	19	25,165,773 (GRCm39)	nonsense	probably null
IGL00838:Dock8	APN	19	25,152,823 (GRCm39)	nonsense	probably null
IGL01419:Dock8	APN	19	25,096,816 (GRCm39)	missense	probably benign	0.08
IGL01456:Dock8	APN	19	25,096,863 (GRCm39)	missense	possibly damaging	0.95
IGL01532:Dock8	APN	19	25,146,805 (GRCm39)	missense	probably damaging	0.99
IGL01602:Dock8	APN	19	25,067,252 (GRCm39)	splice site	probably benign
IGL01605:Dock8	APN	19	25,067,252 (GRCm39)	splice site	probably benign
IGL01753:Dock8	APN	19	25,038,656 (GRCm39)	splice site	probably benign
IGL01843:Dock8	APN	19	25,067,292 (GRCm39)	missense	probably benign	0.02
IGL02032:Dock8	APN	19	25,107,769 (GRCm39)	missense	probably damaging	0.99
IGL02073:Dock8	APN	19	25,178,350 (GRCm39)	critical splice acceptor site	probably null
IGL02192:Dock8	APN	19	25,055,569 (GRCm39)	critical splice donor site	probably null
IGL02402:Dock8	APN	19	25,055,509 (GRCm39)	missense	probably benign	0.25
IGL02529:Dock8	APN	19	25,078,290 (GRCm39)	nonsense	probably null
IGL02728:Dock8	APN	19	25,109,584 (GRCm39)	missense	probably benign
IGL02739:Dock8	APN	19	25,165,852 (GRCm39)	missense	probably damaging	1.00
IGL03037:Dock8	APN	19	25,063,545 (GRCm39)	missense	probably benign	0.02
IGL03104:Dock8	APN	19	25,178,384 (GRCm39)	nonsense	probably null
IGL03137:Dock8	APN	19	25,133,312 (GRCm39)	missense	probably benign	0.19
IGL03365:Dock8	APN	19	25,077,048 (GRCm39)	missense	possibly damaging	0.70
Defenseless	UTSW	19	25,028,927 (GRCm39)	missense	probably benign	0.00
Guardate	UTSW	19	25,127,195 (GRCm39)	missense	probably benign
hillock	UTSW	19	25,151,697 (GRCm39)	critical splice donor site	probably null
Molehill	UTSW	19	25,107,825 (GRCm39)	missense	probably damaging	1.00
Pap	UTSW	19	25,099,805 (GRCm39)	missense	probably benign	0.31
Papilla	UTSW	19	25,055,448 (GRCm39)	nonsense	probably null
snowdrop	UTSW	19	25,162,305 (GRCm39)	critical splice donor site	probably null
warts_and_all	UTSW	19	25,146,865 (GRCm39)	critical splice donor site	probably null
R0021:Dock8	UTSW	19	25,140,411 (GRCm39)	missense	probably benign	0.01
R0147:Dock8	UTSW	19	25,096,823 (GRCm39)	missense	probably benign	0.00
R0148:Dock8	UTSW	19	25,096,823 (GRCm39)	missense	probably benign	0.00
R0294:Dock8	UTSW	19	25,165,714 (GRCm39)	missense	probably damaging	1.00
R0537:Dock8	UTSW	19	25,148,941 (GRCm39)	missense	probably benign	0.08
R0630:Dock8	UTSW	19	25,038,524 (GRCm39)	missense	probably benign	0.10
R1163:Dock8	UTSW	19	25,028,867 (GRCm39)	missense	probably benign
R1164:Dock8	UTSW	19	25,067,391 (GRCm39)	missense	probably benign	0.44
R1471:Dock8	UTSW	19	25,178,400 (GRCm39)	missense	possibly damaging	0.74
R1477:Dock8	UTSW	19	25,072,914 (GRCm39)	missense	possibly damaging	0.95
R1633:Dock8	UTSW	19	25,028,927 (GRCm39)	missense	probably benign	0.00
R1803:Dock8	UTSW	19	25,109,599 (GRCm39)	missense	probably benign	0.00
R1822:Dock8	UTSW	19	25,138,422 (GRCm39)	missense	probably benign	0.31
R1852:Dock8	UTSW	19	25,104,492 (GRCm39)	missense	probably benign	0.45
R1916:Dock8	UTSW	19	25,038,521 (GRCm39)	missense	probably benign	0.02
R1984:Dock8	UTSW	19	25,098,545 (GRCm39)	missense	probably null
R2311:Dock8	UTSW	19	25,160,368 (GRCm39)	missense	possibly damaging	0.93
R2341:Dock8	UTSW	19	25,177,757 (GRCm39)	missense	probably damaging	0.99
R2483:Dock8	UTSW	19	25,057,241 (GRCm39)	missense	probably benign
R3116:Dock8	UTSW	19	25,165,858 (GRCm39)	missense	probably benign	0.00
R3157:Dock8	UTSW	19	25,127,195 (GRCm39)	missense	probably benign
R3623:Dock8	UTSW	19	25,057,241 (GRCm39)	missense	probably benign
R3624:Dock8	UTSW	19	25,057,241 (GRCm39)	missense	probably benign
R3800:Dock8	UTSW	19	25,141,716 (GRCm39)	missense	probably benign	0.08
R3844:Dock8	UTSW	19	25,042,794 (GRCm39)	nonsense	probably null
R3895:Dock8	UTSW	19	25,028,865 (GRCm39)	missense	probably benign	0.31
R3901:Dock8	UTSW	19	25,078,269 (GRCm39)	missense	possibly damaging	0.69
R3959:Dock8	UTSW	19	25,162,305 (GRCm39)	critical splice donor site	probably null
R4428:Dock8	UTSW	19	25,042,754 (GRCm39)	missense	probably benign	0.00
R4428:Dock8	UTSW	19	25,177,863 (GRCm39)	missense	probably damaging	0.98
R4429:Dock8	UTSW	19	25,042,754 (GRCm39)	missense	probably benign	0.00
R4431:Dock8	UTSW	19	25,042,754 (GRCm39)	missense	probably benign	0.00
R4545:Dock8	UTSW	19	25,165,722 (GRCm39)	missense	probably damaging	1.00
R4839:Dock8	UTSW	19	25,146,858 (GRCm39)	missense	probably benign	0.00
R4897:Dock8	UTSW	19	25,159,001 (GRCm39)	missense	probably benign	0.00
R4995:Dock8	UTSW	19	25,135,747 (GRCm39)	missense	probably benign	0.02
R5035:Dock8	UTSW	19	25,063,571 (GRCm39)	missense	probably damaging	0.99
R5294:Dock8	UTSW	19	25,038,517 (GRCm39)	missense	probably benign	0.01
R5324:Dock8	UTSW	19	25,140,458 (GRCm39)	missense	probably benign	0.17
R5478:Dock8	UTSW	19	25,057,186 (GRCm39)	missense	probably benign
R5704:Dock8	UTSW	19	25,151,586 (GRCm39)	missense	probably damaging	1.00
R5724:Dock8	UTSW	19	25,099,785 (GRCm39)	missense	probably damaging	1.00
R5745:Dock8	UTSW	19	25,107,761 (GRCm39)	missense	probably benign	0.02
R5864:Dock8	UTSW	19	25,038,584 (GRCm39)	missense	probably damaging	0.99
R5870:Dock8	UTSW	19	25,109,490 (GRCm39)	missense	probably benign
R5893:Dock8	UTSW	19	25,099,811 (GRCm39)	missense	probably damaging	1.00
R5954:Dock8	UTSW	19	25,148,983 (GRCm39)	missense	probably damaging	1.00
R6087:Dock8	UTSW	19	25,138,438 (GRCm39)	missense	probably benign	0.00
R6223:Dock8	UTSW	19	25,138,416 (GRCm39)	missense	probably benign	0.00
R6391:Dock8	UTSW	19	25,072,914 (GRCm39)	missense	possibly damaging	0.95
R6759:Dock8	UTSW	19	25,104,848 (GRCm39)	missense	probably damaging	0.99
R6786:Dock8	UTSW	19	25,160,386 (GRCm39)	missense	possibly damaging	0.49
R6794:Dock8	UTSW	19	25,099,805 (GRCm39)	missense	probably benign	0.31
R6818:Dock8	UTSW	19	25,146,865 (GRCm39)	critical splice donor site	probably null
R6885:Dock8	UTSW	19	25,124,742 (GRCm39)	missense	possibly damaging	0.95
R6908:Dock8	UTSW	19	25,165,746 (GRCm39)	missense	probably damaging	1.00
R6923:Dock8	UTSW	19	25,072,970 (GRCm39)	missense	probably benign
R7001:Dock8	UTSW	19	25,077,041 (GRCm39)	missense	probably benign
R7141:Dock8	UTSW	19	25,158,984 (GRCm39)	missense	probably null	0.75
R7203:Dock8	UTSW	19	25,158,927 (GRCm39)	missense	probably damaging	1.00
R7257:Dock8	UTSW	19	25,104,449 (GRCm39)	missense	probably benign	0.08
R7296:Dock8	UTSW	19	25,162,245 (GRCm39)	missense	probably benign	0.00
R7538:Dock8	UTSW	19	25,135,782 (GRCm39)	missense	probably damaging	1.00
R7555:Dock8	UTSW	19	25,152,764 (GRCm39)	missense	probably damaging	0.99
R7641:Dock8	UTSW	19	25,151,697 (GRCm39)	critical splice donor site	probably null
R7764:Dock8	UTSW	19	25,074,899 (GRCm39)	missense	probably benign
R7859:Dock8	UTSW	19	25,160,934 (GRCm39)	missense	probably damaging	1.00
R7864:Dock8	UTSW	19	25,140,864 (GRCm39)	missense	possibly damaging	0.95
R8090:Dock8	UTSW	19	25,131,606 (GRCm39)	missense	probably damaging	1.00
R8160:Dock8	UTSW	19	25,124,711 (GRCm39)	missense	probably damaging	1.00
R8287:Dock8	UTSW	19	25,107,825 (GRCm39)	missense	probably damaging	1.00
R8295:Dock8	UTSW	19	25,100,600 (GRCm39)	missense	probably benign	0.04
R8443:Dock8	UTSW	19	25,133,281 (GRCm39)	missense	probably benign	0.04
R8537:Dock8	UTSW	19	25,107,870 (GRCm39)	missense	probably benign	0.00
R8673:Dock8	UTSW	19	25,160,867 (GRCm39)	missense	probably damaging	0.96
R8709:Dock8	UTSW	19	25,055,448 (GRCm39)	nonsense	probably null
R8834:Dock8	UTSW	19	25,140,834 (GRCm39)	missense	probably benign	0.16
R8991:Dock8	UTSW	19	25,165,731 (GRCm39)	missense	possibly damaging	0.82
R9292:Dock8	UTSW	19	25,160,995 (GRCm39)	splice site	probably benign
R9509:Dock8	UTSW	19	25,072,985 (GRCm39)	missense	probably benign	0.00
R9526:Dock8	UTSW	19	25,165,739 (GRCm39)	missense	probably benign	0.10
R9622:Dock8	UTSW	19	25,098,545 (GRCm39)	missense	probably null
R9634:Dock8	UTSW	19	25,169,585 (GRCm39)	missense	probably damaging	1.00
R9654:Dock8	UTSW	19	25,124,710 (GRCm39)	missense	probably damaging	1.00
R9670:Dock8	UTSW	19	25,148,926 (GRCm39)	missense	probably null	0.01
R9699:Dock8	UTSW	19	25,133,388 (GRCm39)	critical splice donor site	probably null
R9726:Dock8	UTSW	19	25,154,374 (GRCm39)	missense	probably damaging	0.97
R9765:Dock8	UTSW	19	25,146,832 (GRCm39)	missense	possibly damaging	0.94
X0027:Dock8	UTSW	19	25,138,493 (GRCm39)	missense	probably benign
Z1177:Dock8	UTSW	19	25,133,336 (GRCm39)	missense	probably benign	0.16
Z1177:Dock8	UTSW	19	25,109,487 (GRCm39)	missense	probably benign	0.05

Predicted Primers

PCR Primer
(F):5'- TAGTATCAGCATGGCCGCAAG -3'
(R):5'- TGCACCACGTATTTGGCAGC -3'

Sequencing Primer
(F):5'- CAAGGCCTTAATGGCCAA -3'
(R):5'- TATTTGGCAGCCCCAGGAGAG -3'

Posted On

2016-04-27