Mutagenetix > Incidental Mutation

Incidental Mutation 'R6531:Dock3'

522359

Institutional Source

Beutler Lab

Gene Symbol

Dock3

Ensembl Gene

ENSMUSG00000039716

Gene Name

dedicator of cyto-kinesis 3

Synonyms

PBP, Moca

MMRRC Submission

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.569) question?

Stock #

R6531 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

106892825-107231909 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 106967216 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 895 (D895G)

Ref Sequence

ENSEMBL: ENSMUSP00000047652 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000044532
AA Change: D895G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000047652
Gene: ENSMUSG00000039716
AA Change: D895G

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

0.0695

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.2%
20x: 90.6%

Validation Efficiency

100% (46/46)

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: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930590J08Rik	A	G	6: 91,949,999	E880G	possibly damaging	Het
Acsbg2	T	A	17: 56,846,617	I529F	probably damaging	Het
Ahcyl2	T	G	6: 29,886,162	M359R	probably benign	Het
Aldh5a1	G	T	13: 24,918,564	D305E	probably benign	Het
Catsper2	C	G	2: 121,399,780	V358L	possibly damaging	Het
Cd200r4	C	T	16: 44,833,505	Q222*	probably null	Het
Col4a2	T	A	8: 11,408,135	D270E	probably benign	Het
Cux1	T	C	5: 136,275,119	D1401G	probably benign	Het
Cyp3a59	T	A	5: 146,098,217	M235K	probably benign	Het
Dusp27	A	T	1: 166,110,046		probably null	Het
Dync1h1	T	C	12: 110,617,920	F586L	probably damaging	Het
Elmo1	G	T	13: 20,572,446	R568L	possibly damaging	Het
Epb41	T	C	4: 131,957,636	T711A	probably benign	Het
Grm7	T	A	6: 111,358,425	M599K	probably benign	Het
Hivep3	A	T	4: 120,122,876	K1704*	probably null	Het
Ighv1-62-3	C	A	12: 115,461,006	C115F	probably damaging	Het
Krt78	A	G	15: 101,952,273	Y200H	probably benign	Het
Lamb2	A	T	9: 108,483,726	H549L	possibly damaging	Het
Mroh3	A	G	1: 136,184,353	I759T	probably benign	Het
Ncbp2	CGTCTGGATG	CG	16: 31,956,343		probably null	Het
Nol6	G	T	4: 41,118,154	P828T	probably benign	Het
Olfr1030	A	G	2: 85,984,307	I156V	probably benign	Het
Olfr1132	A	G	2: 87,635,529	Y73H	probably damaging	Het
Olfr1264	A	G	2: 90,021,457	V203A	probably benign	Het
Olfr344	G	A	2: 36,569,341	V248I	probably damaging	Het
Ovgp1	A	C	3: 105,987,071		probably benign	Het
Pitpnm3	T	A	11: 72,071,487	Q230L	possibly damaging	Het
Pkn1	C	T	8: 83,670,293	V910I	probably benign	Het
Plcb1	T	A	2: 135,325,802		probably null	Het
Ppp1r12c	A	G	7: 4,482,789		probably null	Het
Rassf5	T	A	1: 131,244,814	Q106L	possibly damaging	Het
Rfc1	T	C	5: 65,312,979	K62E	possibly damaging	Het
Sf3b1	C	T	1: 55,019,395	E12K	probably damaging	Het
Slc4a1ap	A	T	5: 31,548,638	D691V	probably benign	Het
Speg	T	A	1: 75,422,757	F2283I	probably benign	Het
Synj2	A	G	17: 6,033,839	K267E	probably damaging	Het
Tg	A	T	15: 66,839,362	Y991F	probably damaging	Het
Tlk1	A	T	2: 70,742,083	D380E	probably benign	Het
Trim43b	A	T	9: 89,085,365	L405H	probably damaging	Het
Ttf2	A	G	3: 100,956,260	I586T	probably damaging	Het
Ugt2b36	T	A	5: 87,081,586	R213S	probably damaging	Het
Vmn1r198	T	A	13: 22,354,407	M21K	probably benign	Het
Wdr35	A	T	12: 8,978,685	Y101F	probably benign	Het
Zfp367	T	C	13: 64,144,250	Y189C	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
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
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
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'- TGTAAGGAGCCCCAGGTTAG -3'
(R):5'- TGGCTGATATTAGTAAAGGCAAGGC -3'

Sequencing Primer
(F):5'- TGTAAGGAGCCCCAGGTTAGAAAAG -3'
(R):5'- AGCCACCATCCCTGTGCAG -3'

Posted On

2018-06-06