Mutagenetix > Incidental Mutation

Incidental Mutation 'R0731:Dock3'

67569

Institutional Source

Beutler Lab

Gene Symbol

Dock3

Ensembl Gene

ENSMUSG00000039716

Gene Name

dedicator of cyto-kinesis 3

Synonyms

PBP, Moca

MMRRC Submission

038912-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.569) question?

Stock #

R0731 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

106892825-107231909 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 106969856 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 858 (V858E)

Ref Sequence

ENSEMBL: ENSMUSP00000047652 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000044532]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000044532
AA Change: V858E

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

SMART Domains

Protein: ENSMUSP00000047652
Gene: ENSMUSG00000039716
AA Change: V858E

Domain	Start	End	E-Value	Type
SH3	9	66	3.85e-9	SMART
Pfam:DOCK_N	69	412	1.4e-120	PFAM
Pfam:DOCK-C2	417	608	7.7e-56	PFAM
low complexity region	854	867	N/A	INTRINSIC
low complexity region	892	916	N/A	INTRINSIC
Pfam:DHR-2	1121	1628	9e-133	PFAM
low complexity region	1679	1690	N/A	INTRINSIC
low complexity region	1693	1704	N/A	INTRINSIC
low complexity region	1730	1754	N/A	INTRINSIC
low complexity region	1880	1902	N/A	INTRINSIC
low complexity region	1963	1977	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000165075

SMART Domains

Protein: ENSMUSP00000130873
Gene: ENSMUSG00000039716

Domain	Start	End	E-Value	Type
signal peptide	1	25	N/A	INTRINSIC

Meta Mutation Damage Score

0.7623

Coding Region Coverage

1x: 99.4%
3x: 98.9%
10x: 97.6%
20x: 95.5%

Validation Efficiency

97% (73/75)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is specifically expressed in the central nervous system (CNS). It encodes a member of the DOCK (dedicator of cytokinesis) family of guanine nucleotide exchange factors (GEFs). This protein, dedicator of cytokinesis 3 (DOCK3), is also known as modifier of cell adhesion (MOCA) and presenilin-binding protein (PBP). The DOCK3 and DOCK1, -2 and -4 share several conserved amino acids in their DHR-2 (DOCK homology region 2) domains that are required for GEF activity, and bind directly to WAVE proteins [Wiskott-Aldrich syndrome protein (WASP) family Verprolin-homologous proteins] via their DHR-1 domains. The DOCK3 induces axonal outgrowth in CNS by stimulating membrane recruitment of the WAVE complex and activating the small G protein Rac1. This gene is associated with an attention deficit hyperactivity disorder-like phenotype by a complex chromosomal rearrangement. [provided by RefSeq, Aug 2010]
PHENOTYPE: Mice homozygous for a null allele exhibit abnormal behaviors and muscular weakness associated with axonal dystrophy. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930430F08Rik	T	C	10: 100,586,203	T66A	probably damaging	Het
4933406M09Rik	A	C	1: 134,389,975	M162L	probably benign	Het
Acsm3	A	T	7: 119,768,024	R27*	probably null	Het
Actg1	A	G	11: 120,346,949	F255S	probably damaging	Het
Ahdc1	T	A	4: 133,062,951	V501E	possibly damaging	Het
Alpk2	A	T	18: 65,305,390	D1444E	probably damaging	Het
Btaf1	T	G	19: 36,997,495		probably null	Het
Cacnb2	A	G	2: 14,985,706	H489R	possibly damaging	Het
Ccdc162	C	A	10: 41,579,143	K398N	probably damaging	Het
Cd79b	G	T	11: 106,312,433	S145R	probably damaging	Het
Cdh11	T	A	8: 102,668,019	N264Y	probably damaging	Het
Celsr1	T	C	15: 85,901,597	D2892G	probably benign	Het
Chuk	A	G	19: 44,103,766		probably benign	Het
Clk3	T	C	9: 57,751,126		probably benign	Het
Dcaf8	A	T	1: 172,172,509	D78V	possibly damaging	Het
Dctn1	A	G	6: 83,183,089	T87A	probably damaging	Het
Ddx50	T	C	10: 62,616,249	N732D	unknown	Het
Dnah5	A	T	15: 28,311,143	Y1756F	possibly damaging	Het
Fer1l4	A	G	2: 156,024,070	F1566S	probably benign	Het
Fpr-rs7	T	C	17: 20,113,854	I125V	probably benign	Het
Fuca2	C	T	10: 13,506,027	P228L	probably benign	Het
Galntl6	A	G	8: 58,535,984	F57L	probably benign	Het
Gigyf2	T	A	1: 87,407,727		probably benign	Het
Gm16505	A	T	13: 3,361,329		noncoding transcript	Het
Gm4781	T	C	10: 100,396,777		noncoding transcript	Het
Gm9956	T	A	10: 56,745,543	Y100*	probably null	Het
Gpr137c	T	A	14: 45,246,349	C178S	probably damaging	Het
Gpr83	A	G	9: 14,868,644	R331G	probably benign	Het
Hlcs	T	A	16: 94,131,852	H851L	probably damaging	Het
Kbtbd6	C	A	14: 79,451,884	Y6*	probably null	Het
Kif23	T	C	9: 61,925,032	R610G	possibly damaging	Het
Kifc3	G	A	8: 95,105,733	T487I	probably damaging	Het
Klra5	A	C	6: 129,908,796	D133E	possibly damaging	Het
Klra6	T	C	6: 130,022,705	E100G	probably damaging	Het
Klre1	T	A	6: 129,585,568		probably benign	Het
Lancl1	C	T	1: 67,009,910		probably null	Het
Lgr6	C	T	1: 134,994,010	A199T	probably damaging	Het
Man1b1	A	G	2: 25,338,155	I146V	possibly damaging	Het
Map4k5	T	A	12: 69,874,264		probably benign	Het
Mast3	A	G	8: 70,781,321	S178P	probably damaging	Het
Mau2	A	G	8: 70,023,612		probably null	Het
Mkrn2	A	T	6: 115,614,651	N312Y	probably damaging	Het
Mrvi1	T	C	7: 110,876,900	S615G	probably benign	Het
Myh1	A	G	11: 67,202,533	E150G	probably damaging	Het
Myo7b	T	A	18: 31,961,825		probably null	Het
Nyap1	A	G	5: 137,735,298	V491A	probably damaging	Het
Olfr1284	A	G	2: 111,379,293	M98V	probably damaging	Het
Olfr484	T	C	7: 108,124,734	I176M	probably benign	Het
Olfr518	A	T	7: 108,881,533	N24K	probably damaging	Het
Olfr954	T	C	9: 39,461,532	F34L	probably damaging	Het
Oxsm	A	T	14: 16,240,893	H385Q	probably damaging	Het
Pbld2	T	C	10: 63,056,811	S242P	probably damaging	Het
Pdzd7	T	C	19: 45,029,305	Y675C	probably damaging	Het
Pnkd	T	A	1: 74,351,541	H266Q	probably damaging	Het
Rbfox2	A	G	15: 77,099,279	S141P	probably benign	Het
Rdx	A	G	9: 52,068,218	T214A	probably benign	Het
Ripor2	A	T	13: 24,680,644	E219V	probably damaging	Het
Rufy2	G	A	10: 63,011,844		probably benign	Het
Slf2	T	A	19: 44,975,726		probably benign	Het
Snrnp200	G	T	2: 127,226,145		probably benign	Het
Snx7	T	A	3: 117,829,671		probably benign	Het
Stt3a	T	C	9: 36,735,512	I602V	probably damaging	Het
Tacr3	G	A	3: 134,855,000		probably null	Het
Tcerg1	C	T	18: 42,571,840	T978M	probably damaging	Het
Tcf7l1	G	T	6: 72,788,269	P126Q	possibly damaging	Het
Trank1	A	G	9: 111,365,488	D860G	probably damaging	Het
Try4	T	C	6: 41,304,367	L81P	probably benign	Het
Ucp1	T	C	8: 83,297,847		probably benign	Het
Ugt2b38	G	A	5: 87,420,452	A328V	probably damaging	Het
Wfikkn1	T	A	17: 25,878,017	R444S	probably damaging	Het
Zfc3h1	A	G	10: 115,410,632	T875A	probably benign	Het
Zfp11	A	G	5: 129,657,264	S378P	probably damaging	Het
Zfp984	T	A	4: 147,756,232	N54I	probably damaging	Het

Other mutations in Dock3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00940:Dock3	APN	9	106911377	splice site	probably benign
IGL01067:Dock3	APN	9	107082373	critical splice donor site	probably null
IGL01160:Dock3	APN	9	106906688	missense	probably damaging	1.00
IGL01290:Dock3	APN	9	106958400	splice site	probably benign
IGL01291:Dock3	APN	9	106958400	splice site	probably benign
IGL01391:Dock3	APN	9	106907234	missense	possibly damaging	0.55
IGL01399:Dock3	APN	9	106993471	missense	probably benign	0.06
IGL01660:Dock3	APN	9	107032364	splice site	probably benign
IGL01752:Dock3	APN	9	107025313	splice site	probably benign
IGL01820:Dock3	APN	9	106895893	missense	probably damaging	1.00
IGL01908:Dock3	APN	9	106906662	missense	possibly damaging	0.81
IGL02191:Dock3	APN	9	106938141	missense	probably benign
IGL02227:Dock3	APN	9	107062055	missense	probably damaging	0.98
IGL02309:Dock3	APN	9	106913152	missense	probably damaging	1.00
IGL02408:Dock3	APN	9	106913099	splice site	probably benign
IGL02469:Dock3	APN	9	106986016	missense	probably damaging	0.98
IGL02545:Dock3	APN	9	107062072	missense	probably damaging	1.00
IGL02894:Dock3	APN	9	106930099	missense	probably benign	0.00
IGL02934:Dock3	APN	9	107023745	missense	probably benign	0.01
IGL03027:Dock3	APN	9	106993478	missense	probably damaging	0.98
IGL03068:Dock3	APN	9	106964759	missense	possibly damaging	0.82
IGL03128:Dock3	APN	9	107032292	missense	probably benign	0.05
IGL03161:Dock3	APN	9	107023788	missense	probably damaging	0.99
IGL03263:Dock3	APN	9	106930131	splice site	probably benign
IGL03279:Dock3	APN	9	106911248	splice site	probably benign
IGL03366:Dock3	APN	9	107005433	missense	probably benign	0.01
Implosion	UTSW	9	106937926	missense	probably benign	0.00
Squeeze	UTSW	9	106930043	missense	probably damaging	1.00
Tight	UTSW	9	106994881	missense	probably damaging	1.00
ANU05:Dock3	UTSW	9	106895663	missense	probably benign
R0025:Dock3	UTSW	9	106913268	missense	possibly damaging	0.90
R0025:Dock3	UTSW	9	106913268	missense	possibly damaging	0.90
R0030:Dock3	UTSW	9	106912313	missense	possibly damaging	0.64
R0076:Dock3	UTSW	9	106911486	splice site	probably benign
R0076:Dock3	UTSW	9	106911486	splice site	probably benign
R0206:Dock3	UTSW	9	106996996	nonsense	probably null
R0208:Dock3	UTSW	9	106996996	nonsense	probably null
R0384:Dock3	UTSW	9	106901895	splice site	probably benign
R0610:Dock3	UTSW	9	107023788	missense	probably damaging	0.99
R1184:Dock3	UTSW	9	106969800	missense	probably damaging	1.00
R1350:Dock3	UTSW	9	106914632	missense	possibly damaging	0.52
R1393:Dock3	UTSW	9	106911349	missense	probably damaging	1.00
R1424:Dock3	UTSW	9	106913193	missense	probably damaging	1.00
R1469:Dock3	UTSW	9	106955709	missense	probably benign	0.37
R1469:Dock3	UTSW	9	106955709	missense	probably benign	0.37
R1539:Dock3	UTSW	9	106952364	missense	probably damaging	1.00
R1539:Dock3	UTSW	9	106996913	missense	probably benign	0.23
R1571:Dock3	UTSW	9	106937959	missense	possibly damaging	0.92
R1682:Dock3	UTSW	9	106973841	missense	probably damaging	0.98
R1795:Dock3	UTSW	9	107025335	missense	probably damaging	0.99
R1987:Dock3	UTSW	9	107108421	missense	probably benign	0.01
R2000:Dock3	UTSW	9	106992961	splice site	probably benign
R2074:Dock3	UTSW	9	106993463	missense	possibly damaging	0.46
R2114:Dock3	UTSW	9	106993544	missense	probably benign	0.00
R2265:Dock3	UTSW	9	106941326	missense	probably damaging	1.00
R2269:Dock3	UTSW	9	106941326	missense	probably damaging	1.00
R2370:Dock3	UTSW	9	106952355	missense	probably damaging	1.00
R2377:Dock3	UTSW	9	106895891	missense	probably damaging	0.98
R2385:Dock3	UTSW	9	106991125	missense	probably damaging	1.00
R2426:Dock3	UTSW	9	106914541	missense	possibly damaging	0.76
R3076:Dock3	UTSW	9	106941526	critical splice acceptor site	probably null
R3122:Dock3	UTSW	9	106911343	missense	probably damaging	0.99
R4052:Dock3	UTSW	9	106973796	missense	probably damaging	0.99
R4294:Dock3	UTSW	9	106930043	missense	probably damaging	1.00
R4623:Dock3	UTSW	9	107062045	missense	possibly damaging	0.61
R4664:Dock3	UTSW	9	106993544	missense	possibly damaging	0.71
R4705:Dock3	UTSW	9	107025336	missense	probably damaging	1.00
R4771:Dock3	UTSW	9	106952358	missense	possibly damaging	0.89
R4898:Dock3	UTSW	9	106930067	missense	probably damaging	1.00
R4898:Dock3	UTSW	9	106992972	missense	possibly damaging	0.75
R4948:Dock3	UTSW	9	106991155	missense	probably damaging	0.96
R4961:Dock3	UTSW	9	106941316	missense	probably damaging	1.00
R4986:Dock3	UTSW	9	106931983	missense	probably damaging	1.00
R5054:Dock3	UTSW	9	106937906	missense	probably damaging	1.00
R5065:Dock3	UTSW	9	106955684	missense	probably damaging	1.00
R5081:Dock3	UTSW	9	106991093	missense	probably damaging	1.00
R5101:Dock3	UTSW	9	106969781	missense	probably damaging	1.00
R5135:Dock3	UTSW	9	106932997	missense	probably damaging	1.00
R5227:Dock3	UTSW	9	106986070	missense	probably damaging	1.00
R5257:Dock3	UTSW	9	106996925	missense	probably damaging	1.00
R5258:Dock3	UTSW	9	106996925	missense	probably damaging	1.00
R5273:Dock3	UTSW	9	106900705	critical splice donor site	probably null
R5322:Dock3	UTSW	9	106901829	missense	probably benign	0.14
R5482:Dock3	UTSW	9	106978738	nonsense	probably null
R5553:Dock3	UTSW	9	106991110	missense	possibly damaging	0.81
R5631:Dock3	UTSW	9	106955699	missense	probably benign	0.01
R5739:Dock3	UTSW	9	106973796	missense	possibly damaging	0.92
R5838:Dock3	UTSW	9	106895488	missense	possibly damaging	0.51
R5888:Dock3	UTSW	9	107023803	missense	probably benign	0.12
R5960:Dock3	UTSW	9	106911355	nonsense	probably null
R5974:Dock3	UTSW	9	106994062	missense	probably damaging	1.00
R6116:Dock3	UTSW	9	106931962	missense	probably damaging	1.00
R6162:Dock3	UTSW	9	106964799	missense	possibly damaging	0.88
R6176:Dock3	UTSW	9	106912948	missense	probably benign	0.05
R6219:Dock3	UTSW	9	106994881	missense	probably damaging	1.00
R6238:Dock3	UTSW	9	106912948	missense	probably benign	0.05
R6266:Dock3	UTSW	9	106964753	missense	probably damaging	0.99
R6291:Dock3	UTSW	9	106908432	missense	probably benign
R6531:Dock3	UTSW	9	106967216	missense	probably benign
R6567:Dock3	UTSW	9	106896747	missense	probably benign	0.13
R6572:Dock3	UTSW	9	106989475	missense	probably damaging	0.99
R6620:Dock3	UTSW	9	106937926	missense	probably benign	0.00
R6726:Dock3	UTSW	9	107159452	nonsense	probably null
R7085:Dock3	UTSW	9	106901887	missense	probably damaging	1.00
R7151:Dock3	UTSW	9	106964717	missense	possibly damaging	0.68
R7320:Dock3	UTSW	9	106895524	missense	probably benign	0.20
R7357:Dock3	UTSW	9	107005369	missense	probably benign	0.34
R7423:Dock3	UTSW	9	106967171	missense	probably damaging	0.98
R7426:Dock3	UTSW	9	106895583	missense	probably benign
R7439:Dock3	UTSW	9	107023732	missense	probably damaging	1.00
R7452:Dock3	UTSW	9	106989465	missense	probably damaging	1.00
R7470:Dock3	UTSW	9	107005445	missense	probably damaging	1.00
R7879:Dock3	UTSW	9	106908501	missense	probably benign	0.05
R8047:Dock3	UTSW	9	106993009	missense	possibly damaging	0.93
R8308:Dock3	UTSW	9	106913172	missense	probably benign	0.00
R8837:Dock3	UTSW	9	106897340	missense	probably benign
R8862:Dock3	UTSW	9	106978728	missense	probably damaging	1.00
R8952:Dock3	UTSW	9	106973759	missense	probably benign	0.03
R9230:Dock3	UTSW	9	106930024	missense	probably damaging	1.00
R9269:Dock3	UTSW	9	106941323	missense	probably benign	0.01
R9272:Dock3	UTSW	9	106897370	missense	probably benign	0.00
R9344:Dock3	UTSW	9	106993564	missense	probably damaging	1.00
R9757:Dock3	UTSW	9	107023836	missense	possibly damaging	0.48
R9764:Dock3	UTSW	9	107082514	missense	probably benign	0.00
R9766:Dock3	UTSW	9	106911284	missense	probably benign	0.01
X0023:Dock3	UTSW	9	106985998	missense	possibly damaging	0.95

Predicted Primers

PCR Primer
(F):5'- CATACACGTTCATTTGGGCACTTGC -3'
(R):5'- AGTGACAGGCTTCAAAGACATGGC -3'

Sequencing Primer
(F):5'- CATCAATAAAGGCATCTGACTGAG -3'
(R):5'- GCTCATGGTAAATGTGACACAC -3'

Posted On

2013-09-03