Mutagenetix > Incidental Mutations

Incidental Mutation 'R6489:Dock1'

522640

Institutional Source

Beutler Lab

Gene Symbol

Dock1

Ensembl Gene

ENSMUSG00000058325

Gene Name

dedicator of cytokinesis 1

Synonyms

D630004B07Rik, Dock180, 9130006G06Rik

MMRRC Submission

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R6489 (G1)

Quality Score

214.009

Status

Validated

Chromosome

Chromosomal Location

134670654-135173639 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 134990541 bp

Zygosity

Heterozygous

Amino Acid Change

Methionine to Threonine at position 935 (M935T)

Ref Sequence

ENSEMBL: ENSMUSP00000081531 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000084488]

PDB Structure

Solution structure of the SH3 domain of DOCK180 [SOLUTION NMR]

Predicted Effect

probably damaging
Transcript: ENSMUST00000084488
AA Change: M935T

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000081531
Gene: ENSMUSG00000058325
AA Change: M935T

Domain	Start	End	E-Value	Type
SH3	12	69	7.57e-17	SMART
Pfam:DOCK_N	72	416	1.7e-113	PFAM
Pfam:DOCK-C2	421	618	1.2e-61	PFAM
low complexity region	628	639	N/A	INTRINSIC
Pfam:DHR-2	1111	1610	3.3e-102	PFAM
low complexity region	1639	1664	N/A	INTRINSIC
low complexity region	1683	1701	N/A	INTRINSIC
low complexity region	1756	1773	N/A	INTRINSIC
low complexity region	1823	1857	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000210617

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 97.3%
20x: 90.6%

Validation Efficiency

100% (61/61)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the dedicator of cytokinesis protein family. Dedicator of cytokinesis proteins act as guanine nucleotide exchange factors for small Rho family G proteins. The encoded protein regulates the small GTPase Rac, thereby influencing several biological processes, including phagocytosis and cell migration. Overexpression of this gene has also been associated with certain cancers. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2014]
PHENOTYPE: Mice homozygous for a null allele exhibit postnatal lethality associated with abnormal muscle development and failure of lungs to inflate. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acadvl	T	C	11: 70,010,319	T650A	probably benign	Het
Alkbh7	T	A	17: 56,998,979	S127T	probably damaging	Het
Ank3	G	A	10: 69,991,629	A565T	probably benign	Het
App	G	T	16: 85,056,520	D223E	unknown	Het
Arhgef2	C	A	3: 88,643,014	S675R	probably damaging	Het
Atg14	T	C	14: 47,549,023	D258G	probably damaging	Het
Ckap2l	T	C	2: 129,269,114	D721G	possibly damaging	Het
Cog8	T	C	8: 107,050,301	T481A	probably benign	Het
Colec10	C	A	15: 54,462,213		probably null	Het
Dhx9	T	C	1: 153,456,643		probably benign	Het
Dsg4	T	A	18: 20,471,363	N962K	possibly damaging	Het
Dym	T	C	18: 75,080,226	V173A	probably benign	Het
Exoc3l4	A	G	12: 111,428,697	Y583C	probably damaging	Het
Fam26e	A	T	10: 34,092,506	W184R	probably damaging	Het
Flnb	G	A	14: 7,867,551	V103M	probably damaging	Het
Fzd1	T	A	5: 4,757,336	Q82L	probably benign	Het
Gabrr1	A	G	4: 33,162,855	I474V	probably benign	Het
Galnt11	G	T	5: 25,264,966	W521L	probably damaging	Het
Glb1l3	A	G	9: 26,826,831	V420A	probably benign	Het
Gm5678	A	T	16: 93,630,398		probably null	Het
H1fnt	A	T	15: 98,257,007	L87*	probably null	Het
Homer2	T	C	7: 81,624,278	T57A	probably benign	Het
Ihh	T	A	1: 74,946,511	T272S	probably damaging	Het
Il27ra	T	C	8: 84,031,550	M524V	probably benign	Het
Lman1l	A	T	9: 57,613,726		probably null	Het
Mdp1	C	A	14: 55,660,391		probably benign	Het
Med12l	A	G	3: 59,257,407	K1436R	probably damaging	Het
Megf10	C	T	18: 57,291,807	S1006F	probably benign	Het
Miga1	A	T	3: 152,279,008	I426N	probably damaging	Het
Mtmr6	C	T	14: 60,300,514	T654I	possibly damaging	Het
Nbeal1	A	G	1: 60,330,942	S2673G	possibly damaging	Het
Nup93	T	A	8: 94,302,088	H193Q	probably benign	Het
Olfr1303	A	C	2: 111,814,060	L222W	probably damaging	Het
Olfr384	T	A	11: 73,603,439	N286K	probably damaging	Het
Olfr629	T	C	7: 103,740,668	N191D	probably benign	Het
Pdcd11	C	T	19: 47,109,752	R826C	probably damaging	Het
Pde4dip	G	A	3: 97,755,591	R521*	probably null	Het
Phf2	T	C	13: 48,826,182	S158G	unknown	Het
Pla2g15	A	G	8: 106,163,194	E366G	probably benign	Het
Plekhm2	A	T	4: 141,632,033	H494Q	probably damaging	Het
Prpsap2	A	T	11: 61,749,064	M87K	probably damaging	Het
Rbm19	T	G	5: 120,120,130	S137A	probably benign	Het
Ryr2	T	A	13: 11,834,007	I363L	probably benign	Het
Samd9l	T	C	6: 3,376,896	T122A	probably benign	Het
Scn4a	G	C	11: 106,349,180	D70E	probably benign	Het
Slc12a3	T	A	8: 94,335,004	V293D	possibly damaging	Het
Slc6a7	T	C	18: 61,007,543	Y139C	probably damaging	Het
Slco2b1	A	T	7: 99,690,555	C9*	probably null	Het
Slitrk1	A	T	14: 108,911,303	S659T	possibly damaging	Het
Son	T	G	16: 91,655,156	S264A	possibly damaging	Het
Svep1	C	A	4: 58,100,066	G1326V	probably damaging	Het
Tcf12	A	G	9: 72,015,636		probably null	Het
Ttn	A	G	2: 76,814,718	V11185A	probably damaging	Het
Ubap2	T	C	4: 41,203,574		probably null	Het
Utp15	G	T	13: 98,250,609	F434L	probably damaging	Het
Vmn2r111	T	C	17: 22,559,051	N549S	possibly damaging	Het
Vsnl1	T	G	12: 11,332,218		probably benign	Het
Yod1	G	A	1: 130,717,538	G19S	probably damaging	Het
Zbtb34	A	C	2: 33,411,546	S328A	probably damaging	Het
Zdbf2	T	C	1: 63,307,478	I1672T	possibly damaging	Het

Other mutations in Dock1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00484:Dock1	APN	7	135146531	splice site	probably benign
IGL01319:Dock1	APN	7	134789278	missense	probably benign
IGL01390:Dock1	APN	7	134745047	missense	possibly damaging	0.95
IGL01394:Dock1	APN	7	134766216	missense	probably benign	0.01
IGL01489:Dock1	APN	7	134999321	splice site	probably benign
IGL01505:Dock1	APN	7	135158510	missense	possibly damaging	0.91
IGL01586:Dock1	APN	7	134753377	missense	probably damaging	1.00
IGL01637:Dock1	APN	7	135137813	critical splice acceptor site	probably null
IGL01649:Dock1	APN	7	134777410	missense	probably damaging	1.00
IGL01652:Dock1	APN	7	134777497	splice site	probably benign
IGL01859:Dock1	APN	7	135077161	missense	possibly damaging	0.51
IGL02068:Dock1	APN	7	134771548	missense	probably benign	0.26
IGL02168:Dock1	APN	7	135077131	splice site	probably benign
IGL02200:Dock1	APN	7	134744271	missense	probably benign	0.01
IGL02244:Dock1	APN	7	134777445	nonsense	probably null
IGL02285:Dock1	APN	7	135081920	critical splice donor site	probably null
IGL02319:Dock1	APN	7	134772449	missense	possibly damaging	0.94
IGL02334:Dock1	APN	7	135145565	missense	probably damaging	1.00
IGL02338:Dock1	APN	7	135133075	missense	possibly damaging	0.95
IGL02351:Dock1	APN	7	135108819	missense	possibly damaging	0.51
IGL02358:Dock1	APN	7	135108819	missense	possibly damaging	0.51
IGL02607:Dock1	APN	7	134851513	missense	probably benign	0.13
IGL02638:Dock1	APN	7	135146480	missense	probably benign	0.09
IGL02724:Dock1	APN	7	135163353	missense	probably benign
IGL02820:Dock1	APN	7	135167215	missense	probably benign	0.11
IGL02950:Dock1	APN	7	134730024	missense	probably damaging	1.00
IGL02993:Dock1	APN	7	134744298	missense	probably benign
IGL03000:Dock1	APN	7	134789240	missense	probably benign	0.17
IGL03092:Dock1	APN	7	134765216	splice site	probably benign
IGL03131:Dock1	APN	7	134874183	missense	possibly damaging	0.80
IGL03136:Dock1	APN	7	135168389	missense	probably benign	0.00
IGL03210:Dock1	APN	7	134756939	missense	possibly damaging	0.62
IGL03220:Dock1	APN	7	135108522	critical splice donor site	probably null
P0028:Dock1	UTSW	7	134999324	splice site	probably benign
PIT4453001:Dock1	UTSW	7	135152300	missense	probably benign
R0003:Dock1	UTSW	7	134730064	splice site	probably benign
R0058:Dock1	UTSW	7	135108761	missense	possibly damaging	0.65
R0058:Dock1	UTSW	7	135108761	missense	possibly damaging	0.65
R0062:Dock1	UTSW	7	134777495	splice site	probably null
R0062:Dock1	UTSW	7	134777495	splice site	probably null
R0179:Dock1	UTSW	7	135098837	missense	probably damaging	0.99
R0180:Dock1	UTSW	7	135098837	missense	probably damaging	0.99
R0347:Dock1	UTSW	7	134763867	missense	probably damaging	1.00
R0399:Dock1	UTSW	7	135163442	missense	probably benign	0.00
R0457:Dock1	UTSW	7	135138145	missense	possibly damaging	0.90
R0480:Dock1	UTSW	7	134737718	missense	probably damaging	1.00
R0521:Dock1	UTSW	7	135143778	missense	probably benign	0.21
R0792:Dock1	UTSW	7	134874150	missense	probably benign	0.02
R1136:Dock1	UTSW	7	134848173	missense	possibly damaging	0.95
R1224:Dock1	UTSW	7	135108819	missense	possibly damaging	0.67
R1267:Dock1	UTSW	7	134746436	missense	probably damaging	1.00
R1373:Dock1	UTSW	7	135167175	missense	probably benign	0.01
R1401:Dock1	UTSW	7	135133936	nonsense	probably null
R1454:Dock1	UTSW	7	134851609	splice site	probably benign
R1465:Dock1	UTSW	7	134782409	missense	probably benign	0.00
R1465:Dock1	UTSW	7	134782409	missense	probably benign	0.00
R1523:Dock1	UTSW	7	134744247	missense	possibly damaging	0.49
R1643:Dock1	UTSW	7	135098779	missense	probably damaging	1.00
R1659:Dock1	UTSW	7	134789243	missense	probably damaging	0.98
R1793:Dock1	UTSW	7	135098727	splice site	probably null
R1864:Dock1	UTSW	7	135146507	missense	probably benign	0.07
R1911:Dock1	UTSW	7	134999300	missense	probably damaging	1.00
R2567:Dock1	UTSW	7	135145484	missense	probably damaging	1.00
R3816:Dock1	UTSW	7	134744286	nonsense	probably null
R3971:Dock1	UTSW	7	134746908	missense	probably damaging	1.00
R4063:Dock1	UTSW	7	135115292	missense	possibly damaging	0.81
R4163:Dock1	UTSW	7	134744322	missense	possibly damaging	0.79
R4271:Dock1	UTSW	7	134734054	missense	probably damaging	0.99
R4684:Dock1	UTSW	7	134724409	nonsense	probably null
R4717:Dock1	UTSW	7	134848170	missense	probably damaging	1.00
R4725:Dock1	UTSW	7	134745014	nonsense	probably null
R4788:Dock1	UTSW	7	135145484	missense	probably damaging	0.98
R4869:Dock1	UTSW	7	134734071	missense	probably damaging	1.00
R4889:Dock1	UTSW	7	134744976	missense	probably benign	0.02
R4953:Dock1	UTSW	7	135152288	missense	probably benign	0.34
R5031:Dock1	UTSW	7	135152246	missense	probably benign	0.02
R5161:Dock1	UTSW	7	134734062	missense	possibly damaging	0.69
R5168:Dock1	UTSW	7	135118908	missense	probably damaging	1.00
R5212:Dock1	UTSW	7	134789194	missense	possibly damaging	0.68
R5648:Dock1	UTSW	7	134746954	missense	probably damaging	1.00
R5685:Dock1	UTSW	7	134772362	missense	probably benign	0.19
R5834:Dock1	UTSW	7	134763933	missense	probably damaging	1.00
R6181:Dock1	UTSW	7	135158522	missense	probably damaging	1.00
R6334:Dock1	UTSW	7	134851576	missense	probably benign	0.01
R6406:Dock1	UTSW	7	135145486	missense	probably benign	0.26
R6425:Dock1	UTSW	7	135163381	missense	possibly damaging	0.79
R6616:Dock1	UTSW	7	135108492	missense	possibly damaging	0.85
R6706:Dock1	UTSW	7	135133886	missense	possibly damaging	0.72
R6766:Dock1	UTSW	7	134756793	intron	probably null
R6861:Dock1	UTSW	7	134771478	missense	probably benign	0.00
R6985:Dock1	UTSW	7	135163403	missense	possibly damaging	0.95
R7259:Dock1	UTSW	7	134782748	missense	probably damaging	0.99
R7285:Dock1	UTSW	7	134745008	missense	probably benign	0.01
R7471:Dock1	UTSW	7	135163343	missense	possibly damaging	0.65
R7497:Dock1	UTSW	7	134765274	missense	probably benign
R7691:Dock1	UTSW	7	135138157	critical splice donor site	probably null
R7732:Dock1	UTSW	7	134744970	missense	probably benign	0.01
R7818:Dock1	UTSW	7	134763865	missense	probably damaging	1.00
X0062:Dock1	UTSW	7	135108451	missense	probably damaging	1.00
Z1088:Dock1	UTSW	7	134804547	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- GCACACTCTGATTGGCCTTG -3'
(R):5'- TCCACACAGTGTCTTGAGTG -3'

Sequencing Primer
(F):5'- CCTTGAGCACTATGGAGCAG -3'
(R):5'- CACACAGTGTCTTGAGTGGCTTC -3'

Posted On

2018-06-06