Mutagenetix > Incidental Mutation

Incidental Mutation 'R5974:Dock3'

471625

Institutional Source

Beutler Lab

Gene Symbol

Dock3

Ensembl Gene

ENSMUSG00000039716

Gene Name

dedicator of cyto-kinesis 3

Synonyms

Moca, PBP

MMRRC Submission

044157-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.549) question?

Stock #

R5974 (G1)

Quality Score

211

Status

Not validated

Chromosome

Chromosomal Location

106770024-107109108 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 106871261 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 547 (V547A)

Ref Sequence

ENSEMBL: ENSMUSP00000047652 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000044532
AA Change: V547A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000047652
Gene: ENSMUSG00000039716
AA Change: V547A

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: 99.5%
10x: 97.6%
20x: 92.6%

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Afg3l2	G	T	18: 67,554,329 (GRCm39)	L458M	probably damaging	Het
Anapc4	T	C	5: 53,002,742 (GRCm39)	L261P	probably damaging	Het
Aqp6	A	G	15: 99,499,317 (GRCm39)	Y10C	probably benign	Het
Ccnb1ip1	A	T	14: 51,029,662 (GRCm39)	N133K	probably benign	Het
Clip4	A	T	17: 72,138,242 (GRCm39)	H433L	probably damaging	Het
Cntnap5c	T	A	17: 58,183,480 (GRCm39)	M62K	probably benign	Het
Col12a1	A	G	9: 79,589,409 (GRCm39)	S1049P	probably damaging	Het
Col15a1	C	T	4: 47,258,683 (GRCm39)	T358I	probably benign	Het
Coro7	A	T	16: 4,449,753 (GRCm39)	D645E	possibly damaging	Het
Ctnnal1	C	A	4: 56,817,067 (GRCm39)	W585L	probably damaging	Het
Ctnnd1	C	A	2: 84,451,259 (GRCm39)	E114*	probably null	Het
Daam2	T	A	17: 49,771,501 (GRCm39)	S882C	probably damaging	Het
Des	T	A	1: 75,339,628 (GRCm39)	S329T	probably benign	Het
Dido1	T	C	2: 180,313,290 (GRCm39)	D994G	probably benign	Het
Ebf4	G	A	2: 130,207,484 (GRCm39)	A643T	probably damaging	Het
Ect2	C	A	3: 27,199,112 (GRCm39)	E194*	probably null	Het
Epb41l2	A	G	10: 25,317,713 (GRCm39)	I77V	possibly damaging	Het
Fat3	A	T	9: 15,917,824 (GRCm39)		probably null	Het
Fbn2	T	G	18: 58,181,992 (GRCm39)	D1803A	probably damaging	Het
Fbxo10	T	C	4: 45,040,631 (GRCm39)	E858G	probably benign	Het
Fbxo24	C	T	5: 137,617,912 (GRCm39)	R284Q	probably benign	Het
Fsip2	T	A	2: 82,793,657 (GRCm39)	I425N	possibly damaging	Het
Fut9	A	C	4: 25,620,090 (GRCm39)	Y241*	probably null	Het
Galr2	A	G	11: 116,173,852 (GRCm39)	S161G	possibly damaging	Het
Gcc2	T	A	10: 58,094,065 (GRCm39)	L14I	probably damaging	Het
H2-T15	A	T	17: 36,367,677 (GRCm39)	D220E	probably benign	Het
Hdac11	G	A	6: 91,150,196 (GRCm39)	V332I	probably benign	Het
Hdac7	T	C	15: 97,699,953 (GRCm39)		probably null	Het
Kif16b	C	T	2: 142,699,301 (GRCm39)	G93D	probably damaging	Het
Krtap11-1	C	A	16: 89,367,656 (GRCm39)	C121F	possibly damaging	Het
Lacc1	T	C	14: 77,272,517 (GRCm39)	Q93R	probably damaging	Het
Lama1	T	C	17: 68,080,722 (GRCm39)	F1250S	probably benign	Het
Lmbrd2	A	G	15: 9,172,202 (GRCm39)	E332G	probably benign	Het
Lrp2	C	A	2: 69,289,892 (GRCm39)	C3649F	probably damaging	Het
Map1a	T	C	2: 121,134,857 (GRCm39)	V1653A	probably benign	Het
Mrpl1	T	C	5: 96,379,653 (GRCm39)		probably null	Het
Myo1b	A	G	1: 51,817,532 (GRCm39)	S577P	probably damaging	Het
Nedd4	T	A	9: 72,650,920 (GRCm39)		probably null	Het
Negr1	T	A	3: 156,774,923 (GRCm39)	V213E	probably damaging	Het
Nlk	T	G	11: 78,481,792 (GRCm39)	Q223P	probably benign	Het
Ntn5	A	G	7: 45,340,848 (GRCm39)	H162R	probably damaging	Het
Nup42	T	C	5: 24,372,400 (GRCm39)	S63P	probably damaging	Het
Obscn	C	A	11: 58,967,373 (GRCm39)	D477Y	probably damaging	Het
Or12d12	A	T	17: 37,611,229 (GRCm39)	I28N	possibly damaging	Het
Or5an1	T	C	19: 12,261,200 (GRCm39)	S263P	probably damaging	Het
Or8u10	T	C	2: 85,915,225 (GRCm39)	S299G	probably benign	Het
Pabpn1	A	G	14: 55,134,617 (GRCm39)	T280A	probably damaging	Het
Per3	A	T	4: 151,127,194 (GRCm39)	V109E	possibly damaging	Het
Pira2	A	C	7: 3,844,576 (GRCm39)	V485G	probably benign	Het
Pknox2	A	G	9: 36,847,618 (GRCm39)	L133P	probably damaging	Het
Pros1	A	C	16: 62,721,030 (GRCm39)	N195T	probably damaging	Het
Rffl	T	C	11: 82,696,977 (GRCm39)	K289E	probably damaging	Het
Ripk1	T	A	13: 34,214,084 (GRCm39)	Y475*	probably null	Het
Ryr2	A	G	13: 11,729,397 (GRCm39)		probably null	Het
Sgk1	T	A	10: 21,872,148 (GRCm39)	N241K	probably damaging	Het
Skint1	T	A	4: 111,876,516 (GRCm39)	S146T	probably benign	Het
Sox30	G	T	11: 45,871,900 (GRCm39)	D252Y	probably damaging	Het
Syngap1	A	G	17: 27,182,012 (GRCm39)	Y1002C	probably damaging	Het
Tiam2	A	G	17: 3,465,084 (GRCm39)	D271G	possibly damaging	Het
Ticam1	T	C	17: 56,578,178 (GRCm39)	T306A	probably benign	Het
Tmem252	A	G	19: 24,651,632 (GRCm39)	E67G	probably benign	Het
Tnxb	T	G	17: 34,904,681 (GRCm39)	F1149V	probably damaging	Het
Ubr4	A	G	4: 139,148,389 (GRCm39)		probably null	Het
Unc50	A	G	1: 37,476,290 (GRCm39)	D150G	probably benign	Het
Ywhag	A	C	5: 135,940,483 (GRCm39)	L37R	probably damaging	Het
Zfp296	T	C	7: 19,311,862 (GRCm39)	L123P	probably benign	Het
Zfp418	G	T	7: 7,185,199 (GRCm39)	Q387H	possibly damaging	Het
Zfp882	T	C	8: 72,666,999 (GRCm39)	F53L	probably damaging	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
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
R9764:Dock3	UTSW	9	106,959,713 (GRCm39)	missense	probably benign	0.00
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'- TGATTTCTCAGGCCTGCTGAC -3'
(R):5'- TTCTCCTGCAAATCAGATCTCTAAG -3'

Sequencing Primer
(F):5'- TCTCAGGCCTGCTGACATTGG -3'
(R):5'- CCTGCAAATCAGATCTCTAAGGTTTG -3'

Posted On

2017-03-31