Mutagenetix > Incidental Mutation

Incidental Mutation 'R5631:Dock3'

439864

Institutional Source

Beutler Lab

Gene Symbol

Dock3

Ensembl Gene

ENSMUSG00000039716

Gene Name

dedicator of cyto-kinesis 3

Synonyms

Moca, PBP

MMRRC Submission

043282-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.549) question?

Stock #

R5631 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

106770024-107109108 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 106832898 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Glycine at position 1038 (S1038G)

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: S1038G

PolyPhen 2 Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000047652
Gene: ENSMUSG00000039716
AA Change: S1038G

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: ENSMUST00000165075
AA Change: S124G

SMART Domains

Protein: ENSMUSP00000130873
Gene: ENSMUSG00000039716
AA Change: S124G

Domain	Start	End	E-Value	Type
signal peptide	1	25	N/A	INTRINSIC

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

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.8%

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933427D14Rik	C	A	11: 72,067,590 (GRCm39)	V567L	possibly damaging	Het
Abraxas1	T	G	5: 100,965,840 (GRCm39)	Y68S	probably damaging	Het
Adamtsl1	C	T	4: 86,195,160 (GRCm39)	Q543*	probably null	Het
Anapc1	T	C	2: 128,499,137 (GRCm39)	Y845C	possibly damaging	Het
Ap4m1	A	G	5: 138,173,051 (GRCm39)	*98W	probably null	Het
Clock	G	A	5: 76,378,185 (GRCm39)	P572S	probably benign	Het
Cramp1	T	A	17: 25,204,577 (GRCm39)	T275S	possibly damaging	Het
Fancm	T	C	12: 65,160,617 (GRCm39)	V1397A	probably damaging	Het
Fn1	T	C	1: 71,629,355 (GRCm39)	T2203A	probably damaging	Het
Gm57858	G	C	3: 36,101,026 (GRCm39)	Q49E	probably damaging	Het
Heatr5a	T	A	12: 52,002,310 (GRCm39)	I209F	probably benign	Het
Hfm1	A	G	5: 107,052,629 (GRCm39)	S285P	probably damaging	Het
Hpx	A	T	7: 105,244,808 (GRCm39)	C126S	probably damaging	Het
Ipo4	A	G	14: 55,869,526 (GRCm39)	V378A	probably damaging	Het
Ipo4	C	T	14: 55,870,838 (GRCm39)	V265I	probably benign	Het
Kcnv1	T	A	15: 44,972,753 (GRCm39)	T377S	probably damaging	Het
Kmt2a	A	T	9: 44,731,985 (GRCm39)		probably benign	Het
Ldlrad3	T	C	2: 101,900,301 (GRCm39)	D67G	probably damaging	Het
Lrrc71	T	A	3: 87,646,456 (GRCm39)	M535L	probably benign	Het
Mfhas1	G	A	8: 36,055,573 (GRCm39)	R16Q	probably damaging	Het
Mrc1	A	T	2: 14,333,383 (GRCm39)	K1355*	probably null	Het
Mrgprf	A	G	7: 144,862,283 (GRCm39)	I282V	probably benign	Het
Mvb12b	G	T	2: 33,717,715 (GRCm39)	P142Q	probably damaging	Het
Naip6	T	C	13: 100,436,646 (GRCm39)	I626V	probably benign	Het
Ncoa5	T	C	2: 164,855,041 (GRCm39)	D27G	possibly damaging	Het
Nrap	T	G	19: 56,342,553 (GRCm39)	E780A	probably benign	Het
Oplah	T	C	15: 76,189,441 (GRCm39)	I228V	probably benign	Het
Or5w1b	A	T	2: 87,475,952 (GRCm39)	S172T	probably benign	Het
Pkdrej	T	C	15: 85,704,638 (GRCm39)	M433V	probably benign	Het
Polr3h	T	A	15: 81,810,113 (GRCm39)		probably benign	Het
Ppfibp1	T	C	6: 146,898,358 (GRCm39)	Y105H	probably damaging	Het
Rplp2	A	C	7: 141,031,172 (GRCm39)		probably benign	Het
Rps6ka4	T	C	19: 6,808,345 (GRCm39)		probably benign	Het
Rspry1	A	T	8: 95,355,706 (GRCm39)	M1L	possibly damaging	Het
Runx1	C	A	16: 92,492,451 (GRCm39)	R64L	possibly damaging	Het
Secisbp2l	C	T	2: 125,582,657 (GRCm39)	G933D	possibly damaging	Het
Slc9a5	C	T	8: 106,076,141 (GRCm39)	H45Y	possibly damaging	Het
Smc4	T	C	3: 68,937,645 (GRCm39)	I890T	probably benign	Het
Smtnl1	T	C	2: 84,649,098 (GRCm39)	E52G	probably benign	Het
Stag3	T	A	5: 138,294,139 (GRCm39)	I319N	probably damaging	Het
Stt3b	G	A	9: 115,083,913 (GRCm39)	T421I	probably benign	Het
Thumpd1	A	G	7: 119,319,825 (GRCm39)	L47P	probably damaging	Het
Tns2	C	T	15: 102,017,369 (GRCm39)	R281C	probably damaging	Het
Top2b	T	C	14: 16,409,882 (GRCm38)	Y850H	probably damaging	Het
Trim34a	A	T	7: 103,897,946 (GRCm39)	E158V	probably damaging	Het
Trp53i13	C	A	11: 77,400,419 (GRCm39)		probably null	Het
Ugt3a1	T	C	15: 9,361,971 (GRCm39)	V249A	probably damaging	Het
Vmn1r128	G	A	7: 21,083,300 (GRCm39)	M1I	probably null	Het
Yars1	T	G	4: 129,103,542 (GRCm39)	L297R	probably damaging	Het
Yju2b	G	T	8: 84,990,510 (GRCm39)	Q41K	probably damaging	Het
Zkscan3	A	G	13: 21,578,703 (GRCm39)	L176P	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
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
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'- CCTTGGAAAACCAGCTTTGTGAG -3'
(R):5'- GCTGTTGGCTTCAGAAGGAATC -3'

Sequencing Primer
(F):5'- ACCAGCTTTGTGAGAAATGTG -3'
(R):5'- TTGGCTTCAGAAGGAATCAAGAAAGC -3'

Posted On

2016-11-08