Mutagenetix > Incidental Mutations

Incidental Mutation 'R4948:Dock3'

383589

Institutional Source

Beutler Lab

Gene Symbol

Dock3

Ensembl Gene

ENSMUSG00000039716

Gene Name

dedicator of cyto-kinesis 3

Synonyms

PBP, Moca

MMRRC Submission

042545-MU

Accession Numbers

Is this an essential gene?

Possibly essential (E-score: 0.677) question?

Stock #

R4948 (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 106991155 bp

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 643 (D643E)

Ref Sequence

ENSEMBL: ENSMUSP00000047652 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000044532
AA Change: D643E

PolyPhen 2 Score 0.957 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000047652
Gene: ENSMUSG00000039716
AA Change: D643E

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

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.3%
20x: 92.2%

Validation Efficiency

94% (103/109)

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: 100 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610318N02Rik	A	T	16: 17,118,290		probably null	Het
Adcy4	C	T	14: 55,779,029	D322N	probably damaging	Het
Alas1	A	T	9: 106,246,878	L27*	probably null	Het
Aldh1a7	A	G	19: 20,727,010	V40A	possibly damaging	Het
Appbp2	A	T	11: 85,194,583	I499K	possibly damaging	Het
B3gnt5	A	C	16: 19,769,144	M38L	probably benign	Het
Brd8	A	G	18: 34,614,532	V92A	probably damaging	Het
Btla	A	T	16: 45,242,728	E151D	probably benign	Het
C87499	A	T	4: 88,628,948	L162H	probably damaging	Het
Cd79b	T	A	11: 106,312,861	T67S	probably benign	Het
Cep192	A	G	18: 67,816,804	R320G	probably benign	Het
Chad	A	C	11: 94,565,702	D202A	probably damaging	Het
Chil6	A	G	3: 106,388,672		probably benign	Het
Cpz	T	C	5: 35,517,404	E167G	possibly damaging	Het
Crisp2	T	G	17: 40,765,268	H225P	probably damaging	Het
Cyp2c23	T	C	19: 44,021,699	Y69C	possibly damaging	Het
Dcp1a	T	A	14: 30,479,767	L49H	probably damaging	Het
Dnah6	T	A	6: 73,053,689	H3380L	probably benign	Het
Dnm2	A	G	9: 21,504,533	D721G	possibly damaging	Het
Dnpep	G	T	1: 75,316,760	T15K	probably benign	Het
Ear6	C	T	14: 51,854,116	T40I	possibly damaging	Het
Fancm	A	G	12: 65,090,974	D313G	probably damaging	Het
Fbxw16	T	A	9: 109,438,347	E272V	probably damaging	Het
Frmd4b	T	A	6: 97,306,730	E393D	probably benign	Het
Fryl	T	A	5: 73,089,130	M1100L	probably benign	Het
Gjc1	T	C	11: 102,800,421	H252R	probably damaging	Het
Gm10518	T	C	1: 179,803,912		probably benign	Het
Gna14	A	G	19: 16,603,292	M165V	probably benign	Het
Hells	C	A	19: 38,935,522	Q72K	probably damaging	Het
Herc1	A	G	9: 66,484,902	I4031V	probably benign	Het
Hspa2	C	T	12: 76,405,987	A485V	probably damaging	Het
Ighv1-54	T	A	12: 115,193,818	I70F	probably benign	Het
Il20rb	A	T	9: 100,461,539		probably benign	Het
Krt1	C	A	15: 101,845,941	V625L	unknown	Het
Lamc3	T	C	2: 31,940,736	I1495T	probably benign	Het
Larp6	A	G	9: 60,737,780	E401G	possibly damaging	Het
Ldha	A	T	7: 46,847,381	H19L	probably benign	Het
Lrba	A	G	3: 86,285,028	N83S	probably damaging	Het
Lrp4	G	T	2: 91,485,886	R783L	probably benign	Het
Lrrk2	T	G	15: 91,803,389	I2227S	probably benign	Het
Lvrn	T	C	18: 46,880,736	L495P	probably damaging	Het
Macf1	T	C	4: 123,497,755	N1077S	probably damaging	Het
Mboat1	A	G	13: 30,241,230	T425A	probably damaging	Het
Mcam	A	G	9: 44,136,566	E36G	probably damaging	Het
Meis1	T	A	11: 19,016,308	T22S	probably benign	Het
Micu1	A	G	10: 59,863,254	K451R	possibly damaging	Het
Mrvi1	A	G	7: 110,888,029	V498A	probably damaging	Het
Nat8	A	T	6: 85,830,523	D209E	probably benign	Het
Nek10	T	A	14: 14,860,986	L513M	possibly damaging	Het
Nmral1	G	A	16: 4,716,410	R56*	probably null	Het
Ofcc1	G	A	13: 40,015,388	T841I	probably damaging	Het
Olfr1002	T	C	2: 85,647,572	I250V	probably benign	Het
Olfr1408	A	G	1: 173,130,959	V86A	probably benign	Het
Olfr1451	A	T	19: 12,999,831	T282S	probably benign	Het
Olfr192	G	A	16: 59,098,977	T5I	probably damaging	Het
Palm3	A	T	8: 84,027,079	R132*	probably null	Het
Pax2	A	G	19: 44,816,040	Y272C	probably damaging	Het
Phc2	G	A	4: 128,723,115	A394T	probably benign	Het
Phf2	C	A	13: 48,807,722	G831C	unknown	Het
Pik3c2b	G	A	1: 133,099,715		probably null	Het
Plin2	T	A	4: 86,661,991	I178F	probably benign	Het
Prdm14	T	A	1: 13,122,631	I295F	probably damaging	Het
Psmd5	C	T	2: 34,870,783	R47H	probably benign	Het
Ptchd3	T	A	11: 121,842,516	I744K	probably damaging	Het
Ptrh1	T	A	2: 32,776,545		probably benign	Het
Rab6a	A	G	7: 100,628,420	D49G	probably damaging	Het
Radil	A	T	5: 142,485,239	D1062E	probably benign	Het
Robo2	A	G	16: 74,352,838	V34A	possibly damaging	Het
Sall3	G	A	18: 80,971,411	P1029S	probably benign	Het
Sec14l3	A	G	11: 4,068,101	D127G	possibly damaging	Het
Sel1l2	A	G	2: 140,244,166	Y502H	probably damaging	Het
Serpina1f	A	G	12: 103,689,751	V406A	probably damaging	Het
Sf3b3	T	C	8: 110,813,669	D1040G	probably damaging	Het
Sgcd	A	G	11: 46,979,435	I233T	possibly damaging	Het
Slc15a3	A	G	19: 10,843,046	Q9R	probably benign	Het
Slc25a46	A	G	18: 31,583,283	F389L	probably damaging	Het
Slc26a2	G	T	18: 61,198,258	C700*	probably null	Het
Slc4a7	A	G	14: 14,771,283	Y671C	possibly damaging	Het
Slc5a10	A	T	11: 61,719,882	I22N	probably damaging	Het
Slc5a9	C	A	4: 111,891,744		probably null	Het
Slc6a12	A	G	6: 121,355,322	D205G	probably benign	Het
Tas2r115	G	A	6: 132,737,161	H276Y	probably damaging	Het
Tdpoz4	T	A	3: 93,797,011	I205N	probably damaging	Het
Tfeb	C	T	17: 47,785,979	T33I	probably benign	Het
Tgm3	A	G	2: 130,048,320	T668A	probably benign	Het
Tnpo3	A	G	6: 29,582,260	V201A	probably benign	Het
Tpcn1	T	A	5: 120,556,531	M158L	probably benign	Het
Trim47	A	C	11: 116,106,092	L612R	probably damaging	Het
Trmt10c	A	T	16: 56,034,075	L399*	probably null	Het
Trpm2	A	T	10: 77,917,792	S1293T	probably benign	Het
Ttn	C	T	2: 76,752,597	V22651I	probably damaging	Het
Tubgcp5	A	G	7: 55,806,123	I300V	probably benign	Het
Uty	T	A	Y: 1,136,883	Q844L	probably damaging	Het
Vmn2r85	C	T	10: 130,419,121	E565K	probably damaging	Het
Vmn2r97	T	C	17: 18,947,299	V605A	possibly damaging	Het
Vwa3a	T	C	7: 120,776,264	V399A	probably damaging	Het
Wdr63	T	A	3: 146,083,065	K254*	probably null	Het
Wnk4	G	A	11: 101,268,281	R508Q	probably damaging	Het
Zfp217	A	G	2: 170,119,210	V399A	probably damaging	Het
Zfp616	T	A	11: 74,084,004	N457K	possibly 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
R0731:Dock3	UTSW	9	106969856	missense	probably damaging	1.00
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
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
R7962:Dock3	UTSW	9	106908501	missense	probably benign	0.05
R8047:Dock3	UTSW	9	106993009	missense	not run
X0023:Dock3	UTSW	9	106985998	missense	possibly damaging	0.95

Predicted Primers

PCR Primer
(F):5'- TGGAAGCCTGGCTCTTTTCTAAG -3'
(R):5'- CTTAGCTAGGCAGAGACAGATAC -3'

Sequencing Primer
(F):5'- CCTGGCTCTTTTCTAAGGCTAGAAG -3'
(R):5'- GCAGAGACAGATACTAGATGTTTTTG -3'

Posted On

2016-04-27