Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02894:Dock3'

363339

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Dock3

Ensembl Gene

ENSMUSG00000039716

Gene Name

dedicator of cyto-kinesis 3

Synonyms

PBP, Moca

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.771) question?

Stock #

IGL02894

Quality Score

Status

Chromosome

Chromosomal Location

106892825-107231909 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 106930099 bp

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 1343 (N1343S)

Ref Sequence

ENSEMBL: ENSMUSP00000047652 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000044532
AA Change: N1343S

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000047652
Gene: ENSMUSG00000039716
AA Change: N1343S

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

unknown
Transcript: ENSMUST00000168759
AA Change: N209S

SMART Domains

Protein: ENSMUSP00000131410
Gene: ENSMUSG00000039716
AA Change: N209S

Domain	Start	End	E-Value	Type
Pfam:DHR-2	1	241	4e-48	PFAM

Coding Region Coverage

Validation Efficiency

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9130204L05Rik	A	T	3: 91,088,393	F67L	probably benign	Het
A630023A22Rik	T	A	14: 34,054,860		probably benign	Het
AF529169	T	G	9: 89,603,102	I81L	probably damaging	Het
Aurka	T	A	2: 172,366,948		probably null	Het
Cacna2d3	C	T	14: 29,064,319		probably null	Het
Cdh12	A	G	15: 21,586,294	Y733C	probably damaging	Het
Cdon	A	T	9: 35,455,426	E199D	probably benign	Het
Celsr2	A	T	3: 108,395,210	L558Q	probably damaging	Het
Clcnkb	C	A	4: 141,407,819	R536L	probably benign	Het
Cyp3a11	G	A	5: 145,869,026	Q151*	probably null	Het
Dnah7a	A	T	1: 53,577,328	V1158E	probably benign	Het
Dnah8	G	T	17: 30,721,110	E1677*	probably null	Het
Dock6	T	A	9: 21,811,815	E1603D	probably damaging	Het
Fam91a1	C	T	15: 58,443,231	T589M	probably benign	Het
Fat2	T	A	11: 55,256,653	N3921I	probably damaging	Het
Gm10188	A	G	1: 132,229,299		probably benign	Het
Grid2ip	A	G	5: 143,391,108	E976G	probably benign	Het
Hapln3	G	T	7: 79,121,773	Q123K	probably benign	Het
Hnrnpul1	G	A	7: 25,750,904	P128S	possibly damaging	Het
Hsd3b1	T	A	3: 98,852,929	I249F	possibly damaging	Het
Kbtbd3	A	T	9: 4,331,444	H606L	probably benign	Het
Krt82	T	C	15: 101,542,720	Y418C	probably damaging	Het
Mcm3ap	C	A	10: 76,477,767	A565E	probably benign	Het
Naip2	C	T	13: 100,183,789	V240I	probably benign	Het
Naip2	A	G	13: 100,160,997	S844P	probably damaging	Het
Notch2	T	A	3: 98,102,432	C558*	probably null	Het
Npdc1	T	A	2: 25,407,995	H185Q	probably benign	Het
Olfr1164	T	C	2: 88,093,763	I58V	possibly damaging	Het
Olfr1183	T	G	2: 88,461,726	Y148D	probably damaging	Het
Olfr447	A	T	6: 42,911,517		probably benign	Het
Osbpl3	A	T	6: 50,346,332	I257N	possibly damaging	Het
Pkd1l2	T	A	8: 117,013,891	T2156S	probably damaging	Het
Ppp1r13b	A	G	12: 111,831,454		probably benign	Het
Ppp3ca	C	A	3: 136,797,812	H49N	probably damaging	Het
Prrc2c	A	T	1: 162,678,057	L1100I	probably damaging	Het
Ptpn21	A	C	12: 98,689,632		probably benign	Het
Ptpn7	A	T	1: 135,143,168	M332L	probably damaging	Het
Ptprq	T	A	10: 107,667,424	Q791L	probably benign	Het
Ptprz1	G	A	6: 23,035,149	R1966H	probably damaging	Het
Ralgapa1	T	A	12: 55,717,069	Q1404L	possibly damaging	Het
Reln	C	A	5: 21,885,548	M3437I	possibly damaging	Het
Slc13a1	T	C	6: 24,137,042		probably benign	Het
Slc4a11	T	C	2: 130,687,155		probably null	Het
Slc9a2	A	G	1: 40,763,602	E604G	probably benign	Het
Sod3	T	G	5: 52,368,006	S16A	possibly damaging	Het
Taok3	A	G	5: 117,263,613	I650V	probably benign	Het
Uggt2	T	C	14: 119,081,799	I270M	probably damaging	Het
Ugt3a2	T	A	15: 9,367,401	I410N	probably damaging	Het
Ush2a	G	A	1: 188,451,846	S1449N	probably damaging	Het
Usp29	A	T	7: 6,961,634	M159L	probably benign	Het
Vmn1r122	A	T	7: 21,133,724	F135L	probably benign	Het
Wdr11	T	C	7: 129,631,166		probably benign	Het
Zc3h14	T	A	12: 98,758,943		probably null	Het
Zfp955a	A	T	17: 33,242,452	C235*	probably null	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
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
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
X0023:Dock3	UTSW	9	106985998	missense	possibly damaging	0.95

Posted On

2015-12-18