Mutagenetix > Incidental Mutation

Incidental Mutation 'R7320:Dock3'

568147

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: 0.567) question?

Stock #

R7320 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

106892825-107231909 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 106895524 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 510 (D510G)

Ref Sequence

ENSEMBL: ENSMUSP00000127059 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000044532] [ENSMUST00000069036] [ENSMUST00000159283] [ENSMUST00000166152] [ENSMUST00000171095]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000044532
AA Change: D1988G

PolyPhen 2 Score 0.103 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000047652
Gene: ENSMUSG00000039716
AA Change: D1988G

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: ENSMUST00000069036

SMART Domains

Protein: ENSMUSP00000066534
Gene: ENSMUSG00000032575

Domain	Start	End	E-Value	Type
Pfam:Armet	13	165	3.2e-77	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000159283

SMART Domains

Protein: ENSMUSP00000124562
Gene: ENSMUSG00000032575

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
Pfam:Armet	26	171	9.1e-74	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000159620

SMART Domains

Protein: ENSMUSP00000123907
Gene: ENSMUSG00000032575

Domain	Start	End	E-Value	Type
Pfam:Armet	18	120	1.7e-44	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000160503

SMART Domains

Protein: ENSMUSP00000124453
Gene: ENSMUSG00000032575

Domain	Start	End	E-Value	Type
Pfam:Armet	17	118	1.6e-44	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000166152

Predicted Effect

probably benign
Transcript: ENSMUST00000171095
AA Change: D510G

PolyPhen 2 Score 0.196 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000127059
Gene: ENSMUSG00000039716
AA Change: D510G

Domain	Start	End	E-Value	Type
Pfam:Ded_cyto	1	172	8.9e-52	PFAM
low complexity region	223	234	N/A	INTRINSIC
low complexity region	237	248	N/A	INTRINSIC
low complexity region	260	275	N/A	INTRINSIC
low complexity region	402	424	N/A	INTRINSIC
low complexity region	485	499	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

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: 84 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5330417C22Rik	T	A	3: 108,464,303	K650*	probably null	Het
Abcc3	A	G	11: 94,367,645	I458T	probably benign	Het
Adam29	A	G	8: 55,872,714	I235T	possibly damaging	Het
AF529169	A	G	9: 89,601,626	S573P	probably benign	Het
Afap1	G	A	5: 35,948,223	V174I	probably damaging	Het
Ak8	A	T	2: 28,812,992	D456V	probably damaging	Het
Alb	T	C	5: 90,464,987		probably null	Het
Alox12	C	T	11: 70,254,472	A92T	probably benign	Het
Arhgap23	T	C	11: 97,451,545	S218P	probably benign	Het
Blm	G	A	7: 80,455,354	Q1389*	probably null	Het
C1ql4	A	T	15: 99,087,724	V2E	unknown	Het
Casp12	A	G	9: 5,348,897		probably null	Het
Ccdc73	A	T	2: 104,999,176	I1065F	possibly damaging	Het
Ccdc83	C	T	7: 90,224,034	G371D	probably damaging	Het
Cfap65	A	G	1: 74,926,604	S416P	probably damaging	Het
Cftr	T	A	6: 18,319,013	C1351S	probably damaging	Het
Clcn4	A	T	7: 7,291,828	H311Q	probably benign	Het
Cldn13	T	G	5: 134,915,020	I104L	probably benign	Het
Cul9	A	G	17: 46,510,909	V1880A	possibly damaging	Het
Ddx17	A	T	15: 79,531,904	D407E	probably damaging	Het
Ddx28	G	A	8: 106,011,325	P34S	probably damaging	Het
Dnah5	A	T	15: 28,270,470	N973Y	probably null	Het
Dock10	A	G	1: 80,549,704		probably null	Het
Dst	T	A	1: 34,191,094	D2589E	probably benign	Het
E2f7	T	C	10: 110,764,130	Y249H	not run	Het
Eef2kmt	T	C	16: 5,250,509	Y69C	possibly damaging	Het
Erlin1	T	C	19: 44,059,065	Y139C	probably damaging	Het
Exog	G	T	9: 119,462,478	V274L	possibly damaging	Het
Fam83e	G	A	7: 45,722,472	V98M	probably benign	Het
Fras1	C	T	5: 96,709,886	T2013I	probably benign	Het
Gart	G	T	16: 91,621,681	A970E	probably benign	Het
Gga2	T	A	7: 122,002,103	H259L	probably benign	Het
Glis3	C	A	19: 28,531,598	V329F	probably damaging	Het
Gm6356	T	A	14: 6,972,923	N53I	probably damaging	Het
Golgb1	C	A	16: 36,915,951	C1894*	probably null	Het
Ifi203	T	C	1: 173,929,167	N350S	unknown	Het
Isy1	T	A	6: 87,833,706	R55S	unknown	Het
Itsn1	A	T	16: 91,839,699	D678V	unknown	Het
Lhcgr	T	A	17: 88,742,078	R673S	probably benign	Het
Lnx2	C	A	5: 147,020,133	R601L	possibly damaging	Het
Map4	A	G	9: 110,081,517	T1093A	probably benign	Het
Mink1	A	G	11: 70,599,073	K92E	probably benign	Het
Moxd1	A	G	10: 24,301,465	I560V	probably benign	Het
Mrc2	C	A	11: 105,329,235	D327E	possibly damaging	Het
Notch2	A	G	3: 98,131,327	E1262G	possibly damaging	Het
Olfr1025-ps1	A	T	2: 85,918,374	I150F	probably benign	Het
Olfr1052	GTACTTTTT	GT	2: 86,297,994		probably null	Het
Olfr123	T	A	17: 37,796,357	N304K	probably benign	Het
Olfr1298	A	G	2: 111,645,952	L15S	probably benign	Het
Olfr1434	G	A	19: 12,283,816	G256D	possibly damaging	Het
Olfr1477	T	A	19: 13,503,180	M279K	possibly damaging	Het
Olfr653	C	A	7: 104,580,438	S264*	probably null	Het
Olfr785	A	T	10: 129,409,785	T140S	possibly damaging	Het
Pcbp2	T	A	15: 102,473,347	V5E	probably damaging	Het
Pcp4l1	G	A	1: 171,174,465	A42V	possibly damaging	Het
Pgghg	A	T	7: 140,943,040	Y104F	probably benign	Het
Plscr2	T	C	9: 92,291,140		probably null	Het
Ppfibp1	C	T	6: 146,978,053	A25V	probably damaging	Het
Ptgfr	C	T	3: 151,835,397	G158D	probably benign	Het
Ptgs2	T	C	1: 150,102,695	F186S	probably damaging	Het
Ptpn14	A	G	1: 189,832,759	E181G	probably benign	Het
Rpgrip1	A	G	14: 52,131,216	K291E	possibly damaging	Het
Rtn4rl1	T	C	11: 75,194,296		probably null	Het
Sema3b	T	A	9: 107,600,942	M415L	probably benign	Het
Sh3bp4	A	G	1: 89,145,494	E688G	probably damaging	Het
Slco6c1	G	A	1: 97,128,162	R5C	possibly damaging	Het
Slmap	A	G	14: 26,460,072	F369L	possibly damaging	Het
Sphk2	T	C	7: 45,712,470	N181S	possibly damaging	Het
Sqor	A	G	2: 122,799,810	T235A	probably benign	Het
St13	A	G	15: 81,389,653	L80P	probably damaging	Het
St3gal6	A	G	16: 58,493,711	Y20H	probably benign	Het
Sun1	T	G	5: 139,248,484	Y899D	probably damaging	Het
Synm	C	T	7: 67,735,380	E845K	possibly damaging	Het
Tg	A	T	15: 66,694,784	D1227V	possibly damaging	Het
Thbs1	A	G	2: 118,114,957	N306D	possibly damaging	Het
Tmcc3	A	T	10: 94,578,495	N51Y	possibly damaging	Het
Usp4	A	G	9: 108,388,306	D856G	probably benign	Het
Vil1	G	A	1: 74,418,444	A79T	probably damaging	Het
Vmn1r119	T	A	7: 21,012,346	H37L	probably damaging	Het
Vmn2r110	A	T	17: 20,596,054	M69K	probably benign	Het
Wdr78	A	T	4: 103,050,187	I634N	possibly damaging	Het
Ywhaq	A	G	12: 21,394,981	L221P	probably damaging	Het
Zfp142	G	A	1: 74,570,008	Q1543*	probably null	Het
Zfp384	T	A	6: 125,024,830	M146K	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
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
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'- ACTTGCTTCTCAGACCTGGAG -3'
(R):5'- AATGGCGATGAAGACCTTGAGC -3'

Sequencing Primer
(F):5'- TTCTCAGACCTGGAGTGCCTG -3'
(R):5'- ATGAAGACCTTGAGCCGCCC -3'

Posted On

2019-06-26