Mutagenetix > Incidental Mutation

Incidental Mutation 'R0076:Dock3'

16892

Institutional Source

Beutler Lab

Gene Symbol

Dock3

Ensembl Gene

ENSMUSG00000039716

Gene Name

dedicator of cyto-kinesis 3

Synonyms

PBP, Moca

MMRRC Submission

038363-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.527) question?

Stock #

R0076 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

106892825-107231909 bp(-) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

A to C at 106911486 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000127059 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000044532

SMART Domains

Protein: ENSMUSP00000047652
Gene: ENSMUSG00000039716

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

noncoding transcript
Transcript: ENSMUST00000165562

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000166759

Predicted Effect

probably benign
Transcript: ENSMUST00000168759

SMART Domains

Protein: ENSMUSP00000131410
Gene: ENSMUSG00000039716

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

Predicted Effect

probably benign
Transcript: ENSMUST00000171095

SMART Domains

Protein: ENSMUSP00000127059
Gene: ENSMUSG00000039716

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: 89.9%
3x: 87.5%
10x: 81.6%
20x: 72.8%

Validation Efficiency

92% (83/90)

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca15	T	G	7: 120,373,685 (GRCm38)		probably benign	Het
Acp3	A	G	9: 104,324,218 (GRCm38)		probably benign	Het
Ada	T	A	2: 163,727,603 (GRCm38)		probably benign	Het
Ankrd17	T	A	5: 90,244,406 (GRCm38)	K1693*	probably null	Het
Arhgef38	T	A	3: 133,160,746 (GRCm38)	H210L	possibly damaging	Het
Car10	G	A	11: 93,490,597 (GRCm38)	E129K	possibly damaging	Het
Cask	A	G	X: 13,678,274 (GRCm38)		probably benign	Het
Cd19	T	C	7: 126,410,862 (GRCm38)	D406G	probably damaging	Het
Cd93	T	C	2: 148,442,136 (GRCm38)	D430G	probably benign	Het
Cds1	T	C	5: 101,817,840 (GRCm38)		probably benign	Het
Cerkl	A	T	2: 79,343,289 (GRCm38)	S259T	possibly damaging	Het
Cfap91	G	A	16: 38,302,684 (GRCm38)	Q661*	probably null	Het
Cog8	T	C	8: 107,054,133 (GRCm38)	I164M	possibly damaging	Het
Col4a1	G	A	8: 11,218,713 (GRCm38)	P1009L	probably damaging	Het
Col9a1	G	A	1: 24,237,497 (GRCm38)		probably null	Het
Dcc	G	A	18: 71,321,046 (GRCm38)	Q1241*	probably null	Het
Dus1l	A	T	11: 120,792,808 (GRCm38)		probably benign	Het
Dvl2	G	A	11: 70,008,100 (GRCm38)	E438K	probably damaging	Het
Eif3g	A	G	9: 20,897,753 (GRCm38)	F85S	probably damaging	Het
Fam234b	A	G	6: 135,227,226 (GRCm38)	M456V	probably benign	Het
Fbxo47	G	A	11: 97,857,655 (GRCm38)		probably benign	Het
Fyb2	A	G	4: 104,945,464 (GRCm38)	T188A	possibly damaging	Het
Gm11437	T	C	11: 84,148,636 (GRCm38)	T288A	possibly damaging	Het
Gm5546	T	A	3: 104,353,132 (GRCm38)		noncoding transcript	Het
Gmfb	C	A	14: 46,817,455 (GRCm38)	A11S	probably benign	Het
Gpat4	G	A	8: 23,190,705 (GRCm38)		probably benign	Het
Ifitm6	T	A	7: 141,016,007 (GRCm38)	R124S	possibly damaging	Het
Il17rd	T	A	14: 27,094,854 (GRCm38)	L172Q	probably damaging	Het
Il4	A	T	11: 53,613,914 (GRCm38)	L13Q	probably damaging	Het
Kif2b	A	G	11: 91,575,909 (GRCm38)	M516T	probably damaging	Het
Kmt2a	A	G	9: 44,830,059 (GRCm38)		probably benign	Het
Mark1-ps1	T	A	17: 53,947,877 (GRCm38)		noncoding transcript	Het
Mndal	G	T	1: 173,874,447 (GRCm38)	C96*	probably null	Het
Mroh1	T	C	15: 76,451,140 (GRCm38)	S1365P	probably benign	Het
Mrpl12	A	G	11: 120,485,442 (GRCm38)		probably benign	Het
Mthfsd	C	A	8: 121,098,739 (GRCm38)	V270F	probably benign	Het
Nbas	T	A	12: 13,324,336 (GRCm38)	V555D	probably damaging	Het
Pcdhb16	T	C	18: 37,478,359 (GRCm38)	V124A	probably damaging	Het
Pla2g10	T	A	16: 13,715,518 (GRCm38)	Y131F	possibly damaging	Het
Plec	T	C	15: 76,191,414 (GRCm38)		probably benign	Het
Polr2b	T	A	5: 77,326,561 (GRCm38)	V415E	possibly damaging	Het
Pou6f1	G	A	15: 100,587,836 (GRCm38)	Q106*	probably null	Het
Ptprd	T	C	4: 75,947,039 (GRCm38)		probably benign	Het
Rad54b	G	A	4: 11,609,480 (GRCm38)		probably benign	Het
Rspo1	G	A	4: 124,991,397 (GRCm38)	R22Q	probably benign	Het
Scn7a	A	G	2: 66,714,037 (GRCm38)	V370A	probably benign	Het
Sec1	A	G	7: 45,678,891 (GRCm38)	V244A	probably damaging	Het
Serac1	A	G	17: 6,064,937 (GRCm38)		probably benign	Het
Slco2b1	A	T	7: 99,685,501 (GRCm38)	Y254*	probably null	Het
Steap3	G	A	1: 120,227,730 (GRCm38)	R500C	probably damaging	Het
Stk10	A	G	11: 32,603,722 (GRCm38)	T580A	probably benign	Het
Tpo	C	T	12: 30,104,023 (GRCm38)	G228R	probably damaging	Het
Tpx2	T	C	2: 152,893,683 (GRCm38)	F744L	probably damaging	Het
Ube3b	G	T	5: 114,408,217 (GRCm38)		probably null	Het
Vmn2r84	A	G	10: 130,394,193 (GRCm38)	S17P	probably damaging	Het
Vps13d	A	T	4: 145,164,694 (GRCm38)		probably benign	Het
Zfp532	T	A	18: 65,685,627 (GRCm38)	S851R	probably benign	Het
Zfp623	G	A	15: 75,947,209 (GRCm38)	E5K	probably benign	Het

Other mutations in Dock3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00940:Dock3	APN	9	106,911,377 (GRCm38)	splice site	probably benign
IGL01067:Dock3	APN	9	107,082,373 (GRCm38)	critical splice donor site	probably null
IGL01160:Dock3	APN	9	106,906,688 (GRCm38)	missense	probably damaging	1.00
IGL01290:Dock3	APN	9	106,958,400 (GRCm38)	splice site	probably benign
IGL01291:Dock3	APN	9	106,958,400 (GRCm38)	splice site	probably benign
IGL01391:Dock3	APN	9	106,907,234 (GRCm38)	missense	possibly damaging	0.55
IGL01399:Dock3	APN	9	106,993,471 (GRCm38)	missense	probably benign	0.06
IGL01660:Dock3	APN	9	107,032,364 (GRCm38)	splice site	probably benign
IGL01752:Dock3	APN	9	107,025,313 (GRCm38)	splice site	probably benign
IGL01820:Dock3	APN	9	106,895,893 (GRCm38)	missense	probably damaging	1.00
IGL01908:Dock3	APN	9	106,906,662 (GRCm38)	missense	possibly damaging	0.81
IGL02191:Dock3	APN	9	106,938,141 (GRCm38)	missense	probably benign
IGL02227:Dock3	APN	9	107,062,055 (GRCm38)	missense	probably damaging	0.98
IGL02309:Dock3	APN	9	106,913,152 (GRCm38)	missense	probably damaging	1.00
IGL02408:Dock3	APN	9	106,913,099 (GRCm38)	splice site	probably benign
IGL02469:Dock3	APN	9	106,986,016 (GRCm38)	missense	probably damaging	0.98
IGL02545:Dock3	APN	9	107,062,072 (GRCm38)	missense	probably damaging	1.00
IGL02894:Dock3	APN	9	106,930,099 (GRCm38)	missense	probably benign	0.00
IGL02934:Dock3	APN	9	107,023,745 (GRCm38)	missense	probably benign	0.01
IGL03027:Dock3	APN	9	106,993,478 (GRCm38)	missense	probably damaging	0.98
IGL03068:Dock3	APN	9	106,964,759 (GRCm38)	missense	possibly damaging	0.82
IGL03128:Dock3	APN	9	107,032,292 (GRCm38)	missense	probably benign	0.05
IGL03161:Dock3	APN	9	107,023,788 (GRCm38)	missense	probably damaging	0.99
IGL03263:Dock3	APN	9	106,930,131 (GRCm38)	splice site	probably benign
IGL03279:Dock3	APN	9	106,911,248 (GRCm38)	splice site	probably benign
IGL03366:Dock3	APN	9	107,005,433 (GRCm38)	missense	probably benign	0.01
Implosion	UTSW	9	106,937,926 (GRCm38)	missense	probably benign	0.00
Squeeze	UTSW	9	106,930,043 (GRCm38)	missense	probably damaging	1.00
Tight	UTSW	9	106,994,881 (GRCm38)	missense	probably damaging	1.00
ANU05:Dock3	UTSW	9	106,895,663 (GRCm38)	missense	probably benign
R0025:Dock3	UTSW	9	106,913,268 (GRCm38)	missense	possibly damaging	0.90
R0025:Dock3	UTSW	9	106,913,268 (GRCm38)	missense	possibly damaging	0.90
R0030:Dock3	UTSW	9	106,912,313 (GRCm38)	missense	possibly damaging	0.64
R0076:Dock3	UTSW	9	106,911,486 (GRCm38)	splice site	probably benign
R0206:Dock3	UTSW	9	106,996,996 (GRCm38)	nonsense	probably null
R0208:Dock3	UTSW	9	106,996,996 (GRCm38)	nonsense	probably null
R0384:Dock3	UTSW	9	106,901,895 (GRCm38)	splice site	probably benign
R0610:Dock3	UTSW	9	107,023,788 (GRCm38)	missense	probably damaging	0.99
R0731:Dock3	UTSW	9	106,969,856 (GRCm38)	missense	probably damaging	1.00
R1184:Dock3	UTSW	9	106,969,800 (GRCm38)	missense	probably damaging	1.00
R1350:Dock3	UTSW	9	106,914,632 (GRCm38)	missense	possibly damaging	0.52
R1393:Dock3	UTSW	9	106,911,349 (GRCm38)	missense	probably damaging	1.00
R1424:Dock3	UTSW	9	106,913,193 (GRCm38)	missense	probably damaging	1.00
R1469:Dock3	UTSW	9	106,955,709 (GRCm38)	missense	probably benign	0.37
R1469:Dock3	UTSW	9	106,955,709 (GRCm38)	missense	probably benign	0.37
R1539:Dock3	UTSW	9	106,996,913 (GRCm38)	missense	probably benign	0.23
R1539:Dock3	UTSW	9	106,952,364 (GRCm38)	missense	probably damaging	1.00
R1571:Dock3	UTSW	9	106,937,959 (GRCm38)	missense	possibly damaging	0.92
R1682:Dock3	UTSW	9	106,973,841 (GRCm38)	missense	probably damaging	0.98
R1795:Dock3	UTSW	9	107,025,335 (GRCm38)	missense	probably damaging	0.99
R1987:Dock3	UTSW	9	107,108,421 (GRCm38)	missense	probably benign	0.01
R2000:Dock3	UTSW	9	106,992,961 (GRCm38)	splice site	probably benign
R2074:Dock3	UTSW	9	106,993,463 (GRCm38)	missense	possibly damaging	0.46
R2114:Dock3	UTSW	9	106,993,544 (GRCm38)	missense	probably benign	0.00
R2265:Dock3	UTSW	9	106,941,326 (GRCm38)	missense	probably damaging	1.00
R2269:Dock3	UTSW	9	106,941,326 (GRCm38)	missense	probably damaging	1.00
R2370:Dock3	UTSW	9	106,952,355 (GRCm38)	missense	probably damaging	1.00
R2377:Dock3	UTSW	9	106,895,891 (GRCm38)	missense	probably damaging	0.98
R2385:Dock3	UTSW	9	106,991,125 (GRCm38)	missense	probably damaging	1.00
R2426:Dock3	UTSW	9	106,914,541 (GRCm38)	missense	possibly damaging	0.76
R3076:Dock3	UTSW	9	106,941,526 (GRCm38)	critical splice acceptor site	probably null
R3122:Dock3	UTSW	9	106,911,343 (GRCm38)	missense	probably damaging	0.99
R4052:Dock3	UTSW	9	106,973,796 (GRCm38)	missense	probably damaging	0.99
R4294:Dock3	UTSW	9	106,930,043 (GRCm38)	missense	probably damaging	1.00
R4623:Dock3	UTSW	9	107,062,045 (GRCm38)	missense	possibly damaging	0.61
R4664:Dock3	UTSW	9	106,993,544 (GRCm38)	missense	possibly damaging	0.71
R4705:Dock3	UTSW	9	107,025,336 (GRCm38)	missense	probably damaging	1.00
R4771:Dock3	UTSW	9	106,952,358 (GRCm38)	missense	possibly damaging	0.89
R4898:Dock3	UTSW	9	106,992,972 (GRCm38)	missense	possibly damaging	0.75
R4898:Dock3	UTSW	9	106,930,067 (GRCm38)	missense	probably damaging	1.00
R4948:Dock3	UTSW	9	106,991,155 (GRCm38)	missense	probably damaging	0.96
R4961:Dock3	UTSW	9	106,941,316 (GRCm38)	missense	probably damaging	1.00
R4986:Dock3	UTSW	9	106,931,983 (GRCm38)	missense	probably damaging	1.00
R5054:Dock3	UTSW	9	106,937,906 (GRCm38)	missense	probably damaging	1.00
R5065:Dock3	UTSW	9	106,955,684 (GRCm38)	missense	probably damaging	1.00
R5081:Dock3	UTSW	9	106,991,093 (GRCm38)	missense	probably damaging	1.00
R5101:Dock3	UTSW	9	106,969,781 (GRCm38)	missense	probably damaging	1.00
R5135:Dock3	UTSW	9	106,932,997 (GRCm38)	missense	probably damaging	1.00
R5227:Dock3	UTSW	9	106,986,070 (GRCm38)	missense	probably damaging	1.00
R5257:Dock3	UTSW	9	106,996,925 (GRCm38)	missense	probably damaging	1.00
R5258:Dock3	UTSW	9	106,996,925 (GRCm38)	missense	probably damaging	1.00
R5273:Dock3	UTSW	9	106,900,705 (GRCm38)	critical splice donor site	probably null
R5322:Dock3	UTSW	9	106,901,829 (GRCm38)	missense	probably benign	0.14
R5482:Dock3	UTSW	9	106,978,738 (GRCm38)	nonsense	probably null
R5553:Dock3	UTSW	9	106,991,110 (GRCm38)	missense	possibly damaging	0.81
R5631:Dock3	UTSW	9	106,955,699 (GRCm38)	missense	probably benign	0.01
R5739:Dock3	UTSW	9	106,973,796 (GRCm38)	missense	possibly damaging	0.92
R5838:Dock3	UTSW	9	106,895,488 (GRCm38)	missense	possibly damaging	0.51
R5888:Dock3	UTSW	9	107,023,803 (GRCm38)	missense	probably benign	0.12
R5960:Dock3	UTSW	9	106,911,355 (GRCm38)	nonsense	probably null
R5974:Dock3	UTSW	9	106,994,062 (GRCm38)	missense	probably damaging	1.00
R6116:Dock3	UTSW	9	106,931,962 (GRCm38)	missense	probably damaging	1.00
R6162:Dock3	UTSW	9	106,964,799 (GRCm38)	missense	possibly damaging	0.88
R6176:Dock3	UTSW	9	106,912,948 (GRCm38)	missense	probably benign	0.05
R6219:Dock3	UTSW	9	106,994,881 (GRCm38)	missense	probably damaging	1.00
R6238:Dock3	UTSW	9	106,912,948 (GRCm38)	missense	probably benign	0.05
R6266:Dock3	UTSW	9	106,964,753 (GRCm38)	missense	probably damaging	0.99
R6291:Dock3	UTSW	9	106,908,432 (GRCm38)	missense	probably benign
R6531:Dock3	UTSW	9	106,967,216 (GRCm38)	missense	probably benign
R6567:Dock3	UTSW	9	106,896,747 (GRCm38)	missense	probably benign	0.13
R6572:Dock3	UTSW	9	106,989,475 (GRCm38)	missense	probably damaging	0.99
R6620:Dock3	UTSW	9	106,937,926 (GRCm38)	missense	probably benign	0.00
R6726:Dock3	UTSW	9	107,159,452 (GRCm38)	nonsense	probably null
R7085:Dock3	UTSW	9	106,901,887 (GRCm38)	missense	probably damaging	1.00
R7151:Dock3	UTSW	9	106,964,717 (GRCm38)	missense	possibly damaging	0.68
R7320:Dock3	UTSW	9	106,895,524 (GRCm38)	missense	probably benign	0.20
R7357:Dock3	UTSW	9	107,005,369 (GRCm38)	missense	probably benign	0.34
R7423:Dock3	UTSW	9	106,967,171 (GRCm38)	missense	probably damaging	0.98
R7426:Dock3	UTSW	9	106,895,583 (GRCm38)	missense	probably benign
R7439:Dock3	UTSW	9	107,023,732 (GRCm38)	missense	probably damaging	1.00
R7452:Dock3	UTSW	9	106,989,465 (GRCm38)	missense	probably damaging	1.00
R7470:Dock3	UTSW	9	107,005,445 (GRCm38)	missense	probably damaging	1.00
R7879:Dock3	UTSW	9	106,908,501 (GRCm38)	missense	probably benign	0.05
R8047:Dock3	UTSW	9	106,993,009 (GRCm38)	missense	possibly damaging	0.93
R8308:Dock3	UTSW	9	106,913,172 (GRCm38)	missense	probably benign	0.00
R8837:Dock3	UTSW	9	106,897,340 (GRCm38)	missense	probably benign
R8862:Dock3	UTSW	9	106,978,728 (GRCm38)	missense	probably damaging	1.00
R8952:Dock3	UTSW	9	106,973,759 (GRCm38)	missense	probably benign	0.03
R9230:Dock3	UTSW	9	106,930,024 (GRCm38)	missense	probably damaging	1.00
R9269:Dock3	UTSW	9	106,941,323 (GRCm38)	missense	probably benign	0.01
R9272:Dock3	UTSW	9	106,897,370 (GRCm38)	missense	probably benign	0.00
R9344:Dock3	UTSW	9	106,993,564 (GRCm38)	missense	probably damaging	1.00
R9757:Dock3	UTSW	9	107,023,836 (GRCm38)	missense	possibly damaging	0.48
R9764:Dock3	UTSW	9	107,082,514 (GRCm38)	missense	probably benign	0.00
R9766:Dock3	UTSW	9	106,911,284 (GRCm38)	missense	probably benign	0.01
X0023:Dock3	UTSW	9	106,985,998 (GRCm38)	missense	possibly damaging	0.95

Posted On

2013-01-20