Mutagenetix > Incidental Mutation

Incidental Mutation 'R9764:Dock3'

733151

Institutional Source

Beutler Lab

Gene Symbol

Dock3

Ensembl Gene

ENSMUSG00000039716

Gene Name

dedicator of cyto-kinesis 3

Synonyms

Moca, PBP

MMRRC Submission

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.549) question?

Stock #

R9764 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

106770024-107109108 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 106959713 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 109 (V109I)

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: V109I

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000047652
Gene: ENSMUSG00000039716
AA Change: V109I

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

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 99.3%
20x: 98.4%

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700029F12Rik	T	C	13: 97,166,738 (GRCm39)	T93A	unknown	Het
Adgrg6	T	A	10: 14,302,515 (GRCm39)	H938L	probably benign	Het
Aff1	A	G	5: 103,997,365 (GRCm39)	Y1153C	probably damaging	Het
Akr1c20	T	A	13: 4,564,388 (GRCm39)	I42L	probably benign	Het
Atad2b	T	A	12: 5,082,064 (GRCm39)	N1324K	probably benign	Het
Aurka	T	A	2: 172,201,760 (GRCm39)	I270F	probably damaging	Het
Camk2g	A	T	14: 20,815,498 (GRCm39)	D189E	probably damaging	Het
Cc2d2b	A	G	19: 40,804,299 (GRCm39)	D942G	unknown	Het
Ccnd1	A	C	7: 144,491,770 (GRCm39)	S90A	probably benign	Het
Cfap77	G	T	2: 28,852,741 (GRCm39)	T177K	probably damaging	Het
Chd9	A	G	8: 91,721,220 (GRCm39)	N1003D	unknown	Het
Chga	C	G	12: 102,525,613 (GRCm39)	Q85E	possibly damaging	Het
Cnot1	T	C	8: 96,496,209 (GRCm39)	S322G	probably benign	Het
Cyp8b1	C	A	9: 121,744,294 (GRCm39)	S346I	probably benign	Het
Cysltr2	T	A	14: 73,266,906 (GRCm39)	H268L	probably damaging	Het
Dnah11	T	C	12: 117,884,704 (GRCm39)	T3783A	probably benign	Het
Dscc1	A	G	15: 54,953,674 (GRCm39)	C50R	probably benign	Het
Dtx3l	T	A	16: 35,753,277 (GRCm39)	D443V	probably damaging	Het
Ephb6	A	G	6: 41,592,911 (GRCm39)	H383R	probably benign	Het
Fdft1	A	G	14: 63,400,869 (GRCm39)	I88T	probably damaging	Het
Fmo3	C	A	1: 162,794,524 (GRCm39)	W182L	probably benign	Het
Folh1	T	A	7: 86,406,158 (GRCm39)	Q305L	probably benign	Het
Gale	C	T	4: 135,692,975 (GRCm39)	Q73*	probably null	Het
Gm9195	T	C	14: 72,699,885 (GRCm39)	M1154V	unknown	Het
Grip1	G	A	10: 119,874,569 (GRCm39)	E778K	possibly damaging	Het
Gtsf1l	T	C	2: 162,929,052 (GRCm39)	T144A	probably benign	Het
Itpkc	T	C	7: 26,927,222 (GRCm39)	T231A	probably benign	Het
Kng2	C	A	16: 22,822,737 (GRCm39)	C205F	probably damaging	Het
Ldlrap1	T	G	4: 134,476,661 (GRCm39)	N244T	probably benign	Het
Lingo2	A	G	4: 35,709,750 (GRCm39)	F77L	possibly damaging	Het
Lpcat2b	A	T	5: 107,581,438 (GRCm39)	T256S	possibly damaging	Het
Lrit2	A	G	14: 36,790,936 (GRCm39)	D205G	probably damaging	Het
Lrrc34	T	C	3: 30,697,467 (GRCm39)	D88G	probably damaging	Het
Macf1	T	C	4: 123,366,136 (GRCm39)	E2875G	probably benign	Het
Med13	G	T	11: 86,177,345 (GRCm39)	Q1584K	possibly damaging	Het
Naip5	C	G	13: 100,367,269 (GRCm39)	A276P	probably damaging	Het
Ndufv2	A	G	17: 66,394,503 (GRCm39)	Y121H	probably damaging	Het
Or4f52	T	A	2: 111,061,521 (GRCm39)	I206F	probably damaging	Het
Peg12	T	C	7: 62,113,297 (GRCm39)	T267A	unknown	Het
Pkig	A	G	2: 163,567,375 (GRCm39)		probably null	Het
Prkch	C	G	12: 73,747,078 (GRCm39)	T319S	probably benign	Het
Rhobtb1	T	C	10: 69,115,202 (GRCm39)	S534P	probably damaging	Het
Riok2	A	G	17: 17,607,814 (GRCm39)	N454S	probably benign	Het
Ryr2	T	A	13: 11,701,935 (GRCm39)	K2907N	possibly damaging	Het
Sdc3	C	T	4: 130,546,048 (GRCm39)	P136S	unknown	Het
Slc37a3	G	A	6: 39,322,844 (GRCm39)	L371F	probably damaging	Het
Slc3a1	A	T	17: 85,371,419 (GRCm39)	H657L	probably damaging	Het
Slc7a13	T	A	4: 19,819,033 (GRCm39)	Y78N	probably benign	Het
Slfn8	G	T	11: 82,907,838 (GRCm39)	A235E	probably damaging	Het
Snap91	T	A	9: 86,707,094 (GRCm39)	D232V	possibly damaging	Het
Stap2	C	A	17: 56,309,914 (GRCm39)	S79I	probably damaging	Het
Stra6l	T	C	4: 45,884,602 (GRCm39)	V544A	probably damaging	Het
Syn2	T	C	6: 115,251,219 (GRCm39)		probably null	Het
Tctn1	G	A	5: 122,388,527 (GRCm39)	P284S	possibly damaging	Het
Terb2	G	A	2: 122,018,475 (GRCm39)	M77I	probably benign	Het
Trim80	G	T	11: 115,338,757 (GRCm39)	R529L	possibly damaging	Het
Washc2	T	C	6: 116,186,048 (GRCm39)	L86P	possibly damaging	Het
Zfp74	A	T	7: 29,631,845 (GRCm39)	F133Y	probably benign	Het
Zfp987	T	A	4: 146,060,752 (GRCm39)	N61K	probably benign	Het

Other mutations in Dock3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00940:Dock3	APN	9	106,788,576 (GRCm39)	splice site	probably benign
IGL01067:Dock3	APN	9	106,959,572 (GRCm39)	critical splice donor site	probably null
IGL01160:Dock3	APN	9	106,783,887 (GRCm39)	missense	probably damaging	1.00
IGL01290:Dock3	APN	9	106,835,599 (GRCm39)	splice site	probably benign
IGL01291:Dock3	APN	9	106,835,599 (GRCm39)	splice site	probably benign
IGL01391:Dock3	APN	9	106,784,433 (GRCm39)	missense	possibly damaging	0.55
IGL01399:Dock3	APN	9	106,870,670 (GRCm39)	missense	probably benign	0.06
IGL01660:Dock3	APN	9	106,909,563 (GRCm39)	splice site	probably benign
IGL01752:Dock3	APN	9	106,902,512 (GRCm39)	splice site	probably benign
IGL01820:Dock3	APN	9	106,773,092 (GRCm39)	missense	probably damaging	1.00
IGL01908:Dock3	APN	9	106,783,861 (GRCm39)	missense	possibly damaging	0.81
IGL02191:Dock3	APN	9	106,815,340 (GRCm39)	missense	probably benign
IGL02227:Dock3	APN	9	106,939,254 (GRCm39)	missense	probably damaging	0.98
IGL02309:Dock3	APN	9	106,790,351 (GRCm39)	missense	probably damaging	1.00
IGL02408:Dock3	APN	9	106,790,298 (GRCm39)	splice site	probably benign
IGL02469:Dock3	APN	9	106,863,215 (GRCm39)	missense	probably damaging	0.98
IGL02545:Dock3	APN	9	106,939,271 (GRCm39)	missense	probably damaging	1.00
IGL02894:Dock3	APN	9	106,807,298 (GRCm39)	missense	probably benign	0.00
IGL02934:Dock3	APN	9	106,900,944 (GRCm39)	missense	probably benign	0.01
IGL03027:Dock3	APN	9	106,870,677 (GRCm39)	missense	probably damaging	0.98
IGL03068:Dock3	APN	9	106,841,958 (GRCm39)	missense	possibly damaging	0.82
IGL03128:Dock3	APN	9	106,909,491 (GRCm39)	missense	probably benign	0.05
IGL03161:Dock3	APN	9	106,900,987 (GRCm39)	missense	probably damaging	0.99
IGL03263:Dock3	APN	9	106,807,330 (GRCm39)	splice site	probably benign
IGL03279:Dock3	APN	9	106,788,447 (GRCm39)	splice site	probably benign
IGL03366:Dock3	APN	9	106,882,632 (GRCm39)	missense	probably benign	0.01
Implosion	UTSW	9	106,815,125 (GRCm39)	missense	probably benign	0.00
Squeeze	UTSW	9	106,807,242 (GRCm39)	missense	probably damaging	1.00
Tight	UTSW	9	106,872,080 (GRCm39)	missense	probably damaging	1.00
ANU05:Dock3	UTSW	9	106,772,862 (GRCm39)	missense	probably benign
R0025:Dock3	UTSW	9	106,790,467 (GRCm39)	missense	possibly damaging	0.90
R0025:Dock3	UTSW	9	106,790,467 (GRCm39)	missense	possibly damaging	0.90
R0030:Dock3	UTSW	9	106,789,512 (GRCm39)	missense	possibly damaging	0.64
R0076:Dock3	UTSW	9	106,788,685 (GRCm39)	splice site	probably benign
R0076:Dock3	UTSW	9	106,788,685 (GRCm39)	splice site	probably benign
R0206:Dock3	UTSW	9	106,874,195 (GRCm39)	nonsense	probably null
R0208:Dock3	UTSW	9	106,874,195 (GRCm39)	nonsense	probably null
R0384:Dock3	UTSW	9	106,779,094 (GRCm39)	splice site	probably benign
R0610:Dock3	UTSW	9	106,900,987 (GRCm39)	missense	probably damaging	0.99
R0731:Dock3	UTSW	9	106,847,055 (GRCm39)	missense	probably damaging	1.00
R1184:Dock3	UTSW	9	106,846,999 (GRCm39)	missense	probably damaging	1.00
R1350:Dock3	UTSW	9	106,791,831 (GRCm39)	missense	possibly damaging	0.52
R1393:Dock3	UTSW	9	106,788,548 (GRCm39)	missense	probably damaging	1.00
R1424:Dock3	UTSW	9	106,790,392 (GRCm39)	missense	probably damaging	1.00
R1469:Dock3	UTSW	9	106,832,908 (GRCm39)	missense	probably benign	0.37
R1469:Dock3	UTSW	9	106,832,908 (GRCm39)	missense	probably benign	0.37
R1539:Dock3	UTSW	9	106,874,112 (GRCm39)	missense	probably benign	0.23
R1539:Dock3	UTSW	9	106,829,563 (GRCm39)	missense	probably damaging	1.00
R1571:Dock3	UTSW	9	106,815,158 (GRCm39)	missense	possibly damaging	0.92
R1682:Dock3	UTSW	9	106,851,040 (GRCm39)	missense	probably damaging	0.98
R1795:Dock3	UTSW	9	106,902,534 (GRCm39)	missense	probably damaging	0.99
R1987:Dock3	UTSW	9	106,985,620 (GRCm39)	missense	probably benign	0.01
R2000:Dock3	UTSW	9	106,870,160 (GRCm39)	splice site	probably benign
R2074:Dock3	UTSW	9	106,870,662 (GRCm39)	missense	possibly damaging	0.46
R2114:Dock3	UTSW	9	106,870,743 (GRCm39)	missense	probably benign	0.00
R2265:Dock3	UTSW	9	106,818,525 (GRCm39)	missense	probably damaging	1.00
R2269:Dock3	UTSW	9	106,818,525 (GRCm39)	missense	probably damaging	1.00
R2370:Dock3	UTSW	9	106,829,554 (GRCm39)	missense	probably damaging	1.00
R2377:Dock3	UTSW	9	106,773,090 (GRCm39)	missense	probably damaging	0.98
R2385:Dock3	UTSW	9	106,868,324 (GRCm39)	missense	probably damaging	1.00
R2426:Dock3	UTSW	9	106,791,740 (GRCm39)	missense	possibly damaging	0.76
R3076:Dock3	UTSW	9	106,818,725 (GRCm39)	critical splice acceptor site	probably null
R3122:Dock3	UTSW	9	106,788,542 (GRCm39)	missense	probably damaging	0.99
R4052:Dock3	UTSW	9	106,850,995 (GRCm39)	missense	probably damaging	0.99
R4294:Dock3	UTSW	9	106,807,242 (GRCm39)	missense	probably damaging	1.00
R4623:Dock3	UTSW	9	106,939,244 (GRCm39)	missense	possibly damaging	0.61
R4664:Dock3	UTSW	9	106,870,743 (GRCm39)	missense	possibly damaging	0.71
R4705:Dock3	UTSW	9	106,902,535 (GRCm39)	missense	probably damaging	1.00
R4771:Dock3	UTSW	9	106,829,557 (GRCm39)	missense	possibly damaging	0.89
R4898:Dock3	UTSW	9	106,870,171 (GRCm39)	missense	possibly damaging	0.75
R4898:Dock3	UTSW	9	106,807,266 (GRCm39)	missense	probably damaging	1.00
R4948:Dock3	UTSW	9	106,868,354 (GRCm39)	missense	probably damaging	0.96
R4961:Dock3	UTSW	9	106,818,515 (GRCm39)	missense	probably damaging	1.00
R4986:Dock3	UTSW	9	106,809,182 (GRCm39)	missense	probably damaging	1.00
R5054:Dock3	UTSW	9	106,815,105 (GRCm39)	missense	probably damaging	1.00
R5065:Dock3	UTSW	9	106,832,883 (GRCm39)	missense	probably damaging	1.00
R5081:Dock3	UTSW	9	106,868,292 (GRCm39)	missense	probably damaging	1.00
R5101:Dock3	UTSW	9	106,846,980 (GRCm39)	missense	probably damaging	1.00
R5135:Dock3	UTSW	9	106,810,196 (GRCm39)	missense	probably damaging	1.00
R5227:Dock3	UTSW	9	106,863,269 (GRCm39)	missense	probably damaging	1.00
R5257:Dock3	UTSW	9	106,874,124 (GRCm39)	missense	probably damaging	1.00
R5258:Dock3	UTSW	9	106,874,124 (GRCm39)	missense	probably damaging	1.00
R5273:Dock3	UTSW	9	106,777,904 (GRCm39)	critical splice donor site	probably null
R5322:Dock3	UTSW	9	106,779,028 (GRCm39)	missense	probably benign	0.14
R5482:Dock3	UTSW	9	106,855,937 (GRCm39)	nonsense	probably null
R5553:Dock3	UTSW	9	106,868,309 (GRCm39)	missense	possibly damaging	0.81
R5631:Dock3	UTSW	9	106,832,898 (GRCm39)	missense	probably benign	0.01
R5739:Dock3	UTSW	9	106,850,995 (GRCm39)	missense	possibly damaging	0.92
R5838:Dock3	UTSW	9	106,772,687 (GRCm39)	missense	possibly damaging	0.51
R5888:Dock3	UTSW	9	106,901,002 (GRCm39)	missense	probably benign	0.12
R5960:Dock3	UTSW	9	106,788,554 (GRCm39)	nonsense	probably null
R5974:Dock3	UTSW	9	106,871,261 (GRCm39)	missense	probably damaging	1.00
R6116:Dock3	UTSW	9	106,809,161 (GRCm39)	missense	probably damaging	1.00
R6162:Dock3	UTSW	9	106,841,998 (GRCm39)	missense	possibly damaging	0.88
R6176:Dock3	UTSW	9	106,790,147 (GRCm39)	missense	probably benign	0.05
R6219:Dock3	UTSW	9	106,872,080 (GRCm39)	missense	probably damaging	1.00
R6238:Dock3	UTSW	9	106,790,147 (GRCm39)	missense	probably benign	0.05
R6266:Dock3	UTSW	9	106,841,952 (GRCm39)	missense	probably damaging	0.99
R6291:Dock3	UTSW	9	106,785,631 (GRCm39)	missense	probably benign
R6531:Dock3	UTSW	9	106,844,415 (GRCm39)	missense	probably benign
R6567:Dock3	UTSW	9	106,773,946 (GRCm39)	missense	probably benign	0.13
R6572:Dock3	UTSW	9	106,866,674 (GRCm39)	missense	probably damaging	0.99
R6620:Dock3	UTSW	9	106,815,125 (GRCm39)	missense	probably benign	0.00
R6726:Dock3	UTSW	9	107,036,651 (GRCm39)	nonsense	probably null
R7085:Dock3	UTSW	9	106,779,086 (GRCm39)	missense	probably damaging	1.00
R7151:Dock3	UTSW	9	106,841,916 (GRCm39)	missense	possibly damaging	0.68
R7320:Dock3	UTSW	9	106,772,723 (GRCm39)	missense	probably benign	0.20
R7357:Dock3	UTSW	9	106,882,568 (GRCm39)	missense	probably benign	0.34
R7423:Dock3	UTSW	9	106,844,370 (GRCm39)	missense	probably damaging	0.98
R7426:Dock3	UTSW	9	106,772,782 (GRCm39)	missense	probably benign
R7439:Dock3	UTSW	9	106,900,931 (GRCm39)	missense	probably damaging	1.00
R7452:Dock3	UTSW	9	106,866,664 (GRCm39)	missense	probably damaging	1.00
R7470:Dock3	UTSW	9	106,882,644 (GRCm39)	missense	probably damaging	1.00
R7879:Dock3	UTSW	9	106,785,700 (GRCm39)	missense	probably benign	0.05
R8047:Dock3	UTSW	9	106,870,208 (GRCm39)	missense	possibly damaging	0.93
R8308:Dock3	UTSW	9	106,790,371 (GRCm39)	missense	probably benign	0.00
R8837:Dock3	UTSW	9	106,774,539 (GRCm39)	missense	probably benign
R8862:Dock3	UTSW	9	106,855,927 (GRCm39)	missense	probably damaging	1.00
R8952:Dock3	UTSW	9	106,850,958 (GRCm39)	missense	probably benign	0.03
R9230:Dock3	UTSW	9	106,807,223 (GRCm39)	missense	probably damaging	1.00
R9269:Dock3	UTSW	9	106,818,522 (GRCm39)	missense	probably benign	0.01
R9272:Dock3	UTSW	9	106,774,569 (GRCm39)	missense	probably benign	0.00
R9344:Dock3	UTSW	9	106,870,763 (GRCm39)	missense	probably damaging	1.00
R9757:Dock3	UTSW	9	106,901,035 (GRCm39)	missense	possibly damaging	0.48
R9766:Dock3	UTSW	9	106,788,483 (GRCm39)	missense	probably benign	0.01
X0023:Dock3	UTSW	9	106,863,197 (GRCm39)	missense	possibly damaging	0.95

Predicted Primers

PCR Primer
(F):5'- TCTGTGAGGACTGAGTTACAAAG -3'
(R):5'- CGATGATGCAGATTAGTTATACTGCC -3'

Sequencing Primer
(F):5'- GTTACAAAGAAACTAAGAGATGCCC -3'
(R):5'- CTGCCTTATTAGATATCACTGTGTAC -3'

Posted On

2022-11-14