Mutagenetix > Incidental Mutation

Incidental Mutation 'R7960:Dock1'

650060

Institutional Source

Beutler Lab

Gene Symbol

Dock1

Ensembl Gene

ENSMUSG00000058325

Gene Name

dedicator of cytokinesis 1

Synonyms

D630004B07Rik, 9130006G06Rik, b2b3190Clo, Dock180

MMRRC Submission

046004-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7960 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

134272416-134775376 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 134678917 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 1012 (L1012P)

Ref Sequence

ENSEMBL: ENSMUSP00000081531 (fasta)

Gene Model

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

AlphaFold

Q8BUR4

PDB Structure

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000084488
AA Change: L1012P

PolyPhen 2 Score 0.833 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000081531
Gene: ENSMUSG00000058325
AA Change: L1012P

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

99% (71/72)

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: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110004F10Rik	T	C	7: 115,702,481 (GRCm39)	S82P	possibly damaging	Het
Ablim2	A	C	5: 36,014,493 (GRCm39)	E450A	probably benign	Het
Acacb	G	T	5: 114,368,922 (GRCm39)	M1713I	probably benign	Het
Acbd6	C	A	1: 155,562,766 (GRCm39)	Q256K	probably benign	Het
Agbl2	A	T	2: 90,621,975 (GRCm39)	N154I	probably benign	Het
Ahcyl2	A	G	6: 29,870,626 (GRCm39)	N181D	probably benign	Het
Aldh18a1	A	T	19: 40,546,264 (GRCm39)	D544E	probably benign	Het
Anapc1	A	T	2: 128,516,513 (GRCm39)	L407Q	probably damaging	Het
Arhgap26	T	A	18: 39,362,980 (GRCm39)	V34D		Het
Brd3	A	T	2: 27,342,945 (GRCm39)	S516T	probably benign	Het
Bsn	A	G	9: 107,992,747 (GRCm39)	S1002P	probably damaging	Het
C4b	G	T	17: 34,960,252 (GRCm39)		probably null	Het
Camta1	T	C	4: 151,232,990 (GRCm39)	T228A	probably benign	Het
Cct6b	T	C	11: 82,632,221 (GRCm39)	K256E	possibly damaging	Het
Cep85l	T	A	10: 53,172,403 (GRCm39)	Q552L	probably benign	Het
Col6a5	A	G	9: 105,823,049 (GRCm39)	F103L	unknown	Het
Copb2	A	G	9: 98,462,407 (GRCm39)	Q464R	possibly damaging	Het
Dlc1	G	T	8: 37,404,989 (GRCm39)	H267N	probably benign	Het
Dnajb2	T	C	1: 75,218,055 (GRCm39)	I184T		Het
Dnajc9	C	T	14: 20,438,764 (GRCm39)	E30K	possibly damaging	Het
Dtnbp1	T	C	13: 45,106,650 (GRCm39)	K170R	probably benign	Het
F13b	T	A	1: 139,431,509 (GRCm39)	C26*	probably null	Het
Ficd	G	T	5: 113,877,020 (GRCm39)	E398D	probably benign	Het
G6pc1	G	A	11: 101,267,359 (GRCm39)	G270R	probably damaging	Het
Garin4	T	A	1: 190,895,645 (GRCm39)	T333S	probably benign	Het
Gm3604	T	C	13: 62,517,587 (GRCm39)	Y257C	probably damaging	Het
Hmcn1	T	A	1: 150,531,606 (GRCm39)	Y3221F	probably damaging	Het
Hs3st3b1	C	T	11: 63,812,694 (GRCm39)	G7D	possibly damaging	Het
Htr3b	A	T	9: 48,856,852 (GRCm39)	S209T	probably benign	Het
Ift70a1	A	T	2: 75,811,188 (GRCm39)	D298E	probably benign	Het
Iglon5	T	A	7: 43,126,326 (GRCm39)	E192D	probably benign	Het
Inpp5f	A	G	7: 128,295,638 (GRCm39)		probably null	Het
Kif26b	T	A	1: 178,506,484 (GRCm39)	C187S	probably damaging	Het
Klhl11	A	G	11: 100,354,805 (GRCm39)	S339P	probably benign	Het
Klk14	G	A	7: 43,341,467 (GRCm39)	A40T	probably damaging	Het
Kmt2c	G	A	5: 25,520,194 (GRCm39)	T1972I	probably benign	Het
Lama2	T	C	10: 26,869,094 (GRCm39)	T2784A	probably benign	Het
Loxhd1	T	A	18: 77,472,746 (GRCm39)	F1088I	probably damaging	Het
Map2k2	G	A	10: 80,954,968 (GRCm39)	R185Q	probably benign	Het
Mbd5	G	A	2: 49,169,796 (GRCm39)		probably null	Het
Mdc1	A	T	17: 36,161,570 (GRCm39)	R828*	probably null	Het
Nrp2	C	T	1: 62,784,567 (GRCm39)	R239C	probably damaging	Het
Or5g25	A	G	2: 85,478,417 (GRCm39)	S83P	possibly damaging	Het
Parp4	C	A	14: 56,832,708 (GRCm39)		probably null	Het
Pbk	T	A	14: 66,046,650 (GRCm39)		probably null	Het
Phip	A	T	9: 82,775,401 (GRCm39)	D1060E	probably benign	Het
Pik3c2b	T	A	1: 133,031,587 (GRCm39)	L1509Q	probably damaging	Het
Pik3r5	T	A	11: 68,386,796 (GRCm39)	F808L	probably benign	Het
Plcl1	T	A	1: 55,736,443 (GRCm39)	S595T	possibly damaging	Het
Plxna2	AT	A	1: 194,476,172 (GRCm39)		probably null	Het
Pole	A	G	5: 110,437,727 (GRCm39)	K95R	possibly damaging	Het
Poteg	A	G	8: 27,946,888 (GRCm39)	T259A	probably benign	Het
Pramel52-ps	A	G	5: 94,531,739 (GRCm39)	M208V	probably benign	Het
Ptpn12	G	T	5: 21,260,687 (GRCm39)	P20Q	probably benign	Het
Ptpn5	T	A	7: 46,729,295 (GRCm39)	T440S	possibly damaging	Het
Ptpru	T	C	4: 131,515,820 (GRCm39)	R845G	probably benign	Het
Rasgrp2	G	T	19: 6,464,839 (GRCm39)	V596L	probably benign	Het
Rcbtb2	T	G	14: 73,399,384 (GRCm39)	V16G	probably benign	Het
Rel	T	C	11: 23,694,493 (GRCm39)	N289S	probably damaging	Het
Rpn1	T	A	6: 88,079,068 (GRCm39)	Y504N	probably damaging	Het
Rsf1	CGGCGGCGG	CGGCGGCGGGGGCGGCGG	7: 97,229,124 (GRCm39)		probably benign	Het
Scaf8	G	A	17: 3,221,397 (GRCm39)	V295M	unknown	Het
Skic3	T	C	13: 76,260,318 (GRCm39)	C87R	probably benign	Het
Slc25a48	T	A	13: 56,611,411 (GRCm39)	Y173N	probably damaging	Het
Slc8a3	C	T	12: 81,263,506 (GRCm39)	S627N	probably benign	Het
Snx8	T	A	5: 140,343,848 (GRCm39)	M123L	probably benign	Het
Sri	A	T	5: 8,114,586 (GRCm39)	Q180H	probably benign	Het
Sycp2	T	A	2: 178,046,453 (GRCm39)	R4S	probably null	Het
Tcstv1a	G	A	13: 120,355,521 (GRCm39)	T37I	possibly damaging	Het
Tnnc2	A	T	2: 164,619,704 (GRCm39)	D87E	probably benign	Het
Trim7	A	T	11: 48,728,628 (GRCm39)	N92I	probably damaging	Het
Trpv6	C	T	6: 41,604,612 (GRCm39)	D97N	probably benign	Het
Ulk4	A	G	9: 121,102,022 (GRCm39)	Y19H	probably damaging	Het
Vmn2r69	C	T	7: 85,055,973 (GRCm39)	V722I	probably benign	Het
Zan	T	C	5: 137,407,865 (GRCm39)	D3643G	unknown	Het
Zan	G	A	5: 137,463,154 (GRCm39)	T675I	unknown	Het

Other mutations in Dock1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00484:Dock1	APN	7	134,748,260 (GRCm39)	splice site	probably benign
IGL01319:Dock1	APN	7	134,391,007 (GRCm39)	missense	probably benign
IGL01390:Dock1	APN	7	134,346,776 (GRCm39)	missense	possibly damaging	0.95
IGL01394:Dock1	APN	7	134,367,945 (GRCm39)	missense	probably benign	0.01
IGL01489:Dock1	APN	7	134,601,050 (GRCm39)	splice site	probably benign
IGL01505:Dock1	APN	7	134,760,239 (GRCm39)	missense	possibly damaging	0.91
IGL01586:Dock1	APN	7	134,355,106 (GRCm39)	missense	probably damaging	1.00
IGL01637:Dock1	APN	7	134,739,542 (GRCm39)	critical splice acceptor site	probably null
IGL01649:Dock1	APN	7	134,379,139 (GRCm39)	missense	probably damaging	1.00
IGL01652:Dock1	APN	7	134,379,226 (GRCm39)	splice site	probably benign
IGL01859:Dock1	APN	7	134,678,890 (GRCm39)	missense	possibly damaging	0.51
IGL02068:Dock1	APN	7	134,373,277 (GRCm39)	missense	probably benign	0.26
IGL02168:Dock1	APN	7	134,678,860 (GRCm39)	splice site	probably benign
IGL02200:Dock1	APN	7	134,346,000 (GRCm39)	missense	probably benign	0.01
IGL02244:Dock1	APN	7	134,379,174 (GRCm39)	nonsense	probably null
IGL02285:Dock1	APN	7	134,683,649 (GRCm39)	critical splice donor site	probably null
IGL02319:Dock1	APN	7	134,374,178 (GRCm39)	missense	possibly damaging	0.94
IGL02334:Dock1	APN	7	134,747,294 (GRCm39)	missense	probably damaging	1.00
IGL02338:Dock1	APN	7	134,734,804 (GRCm39)	missense	possibly damaging	0.95
IGL02351:Dock1	APN	7	134,710,548 (GRCm39)	missense	possibly damaging	0.51
IGL02358:Dock1	APN	7	134,710,548 (GRCm39)	missense	possibly damaging	0.51
IGL02607:Dock1	APN	7	134,453,242 (GRCm39)	missense	probably benign	0.13
IGL02638:Dock1	APN	7	134,748,209 (GRCm39)	missense	probably benign	0.09
IGL02724:Dock1	APN	7	134,765,082 (GRCm39)	missense	probably benign
IGL02820:Dock1	APN	7	134,768,944 (GRCm39)	missense	probably benign	0.11
IGL02950:Dock1	APN	7	134,331,753 (GRCm39)	missense	probably damaging	1.00
IGL02993:Dock1	APN	7	134,346,027 (GRCm39)	missense	probably benign
IGL03000:Dock1	APN	7	134,390,969 (GRCm39)	missense	probably benign	0.17
IGL03092:Dock1	APN	7	134,366,945 (GRCm39)	splice site	probably benign
IGL03131:Dock1	APN	7	134,475,912 (GRCm39)	missense	possibly damaging	0.80
IGL03136:Dock1	APN	7	134,770,118 (GRCm39)	missense	probably benign	0.00
IGL03210:Dock1	APN	7	134,358,668 (GRCm39)	missense	possibly damaging	0.62
IGL03220:Dock1	APN	7	134,710,251 (GRCm39)	critical splice donor site	probably null
P0028:Dock1	UTSW	7	134,601,053 (GRCm39)	splice site	probably benign
PIT4453001:Dock1	UTSW	7	134,754,029 (GRCm39)	missense	probably benign
R0003:Dock1	UTSW	7	134,331,793 (GRCm39)	splice site	probably benign
R0058:Dock1	UTSW	7	134,710,490 (GRCm39)	missense	possibly damaging	0.65
R0058:Dock1	UTSW	7	134,710,490 (GRCm39)	missense	possibly damaging	0.65
R0062:Dock1	UTSW	7	134,379,224 (GRCm39)	splice site	probably null
R0062:Dock1	UTSW	7	134,379,224 (GRCm39)	splice site	probably null
R0179:Dock1	UTSW	7	134,700,566 (GRCm39)	missense	probably damaging	0.99
R0180:Dock1	UTSW	7	134,700,566 (GRCm39)	missense	probably damaging	0.99
R0347:Dock1	UTSW	7	134,365,596 (GRCm39)	missense	probably damaging	1.00
R0399:Dock1	UTSW	7	134,765,171 (GRCm39)	missense	probably benign	0.00
R0457:Dock1	UTSW	7	134,739,874 (GRCm39)	missense	possibly damaging	0.90
R0480:Dock1	UTSW	7	134,339,447 (GRCm39)	missense	probably damaging	1.00
R0521:Dock1	UTSW	7	134,745,507 (GRCm39)	missense	probably benign	0.21
R0792:Dock1	UTSW	7	134,475,879 (GRCm39)	missense	probably benign	0.02
R1136:Dock1	UTSW	7	134,449,902 (GRCm39)	missense	possibly damaging	0.95
R1224:Dock1	UTSW	7	134,710,548 (GRCm39)	missense	possibly damaging	0.67
R1267:Dock1	UTSW	7	134,348,165 (GRCm39)	missense	probably damaging	1.00
R1373:Dock1	UTSW	7	134,768,904 (GRCm39)	missense	probably benign	0.01
R1401:Dock1	UTSW	7	134,735,665 (GRCm39)	nonsense	probably null
R1454:Dock1	UTSW	7	134,453,338 (GRCm39)	splice site	probably benign
R1465:Dock1	UTSW	7	134,384,138 (GRCm39)	missense	probably benign	0.00
R1465:Dock1	UTSW	7	134,384,138 (GRCm39)	missense	probably benign	0.00
R1523:Dock1	UTSW	7	134,345,976 (GRCm39)	missense	possibly damaging	0.49
R1643:Dock1	UTSW	7	134,700,508 (GRCm39)	missense	probably damaging	1.00
R1659:Dock1	UTSW	7	134,390,972 (GRCm39)	missense	probably damaging	0.98
R1793:Dock1	UTSW	7	134,700,456 (GRCm39)	splice site	probably null
R1864:Dock1	UTSW	7	134,748,236 (GRCm39)	missense	probably benign	0.07
R1911:Dock1	UTSW	7	134,601,029 (GRCm39)	missense	probably damaging	1.00
R2567:Dock1	UTSW	7	134,747,213 (GRCm39)	missense	probably damaging	1.00
R3816:Dock1	UTSW	7	134,346,015 (GRCm39)	nonsense	probably null
R3971:Dock1	UTSW	7	134,348,637 (GRCm39)	missense	probably damaging	1.00
R4063:Dock1	UTSW	7	134,717,021 (GRCm39)	missense	possibly damaging	0.81
R4163:Dock1	UTSW	7	134,346,051 (GRCm39)	missense	possibly damaging	0.79
R4271:Dock1	UTSW	7	134,335,783 (GRCm39)	missense	probably damaging	0.99
R4684:Dock1	UTSW	7	134,326,138 (GRCm39)	nonsense	probably null
R4717:Dock1	UTSW	7	134,449,899 (GRCm39)	missense	probably damaging	1.00
R4725:Dock1	UTSW	7	134,346,743 (GRCm39)	nonsense	probably null
R4788:Dock1	UTSW	7	134,747,213 (GRCm39)	missense	probably damaging	0.98
R4869:Dock1	UTSW	7	134,335,800 (GRCm39)	missense	probably damaging	1.00
R4889:Dock1	UTSW	7	134,346,705 (GRCm39)	missense	probably benign	0.02
R4953:Dock1	UTSW	7	134,754,017 (GRCm39)	missense	probably benign	0.34
R5031:Dock1	UTSW	7	134,753,975 (GRCm39)	missense	probably benign	0.02
R5161:Dock1	UTSW	7	134,335,791 (GRCm39)	missense	possibly damaging	0.69
R5168:Dock1	UTSW	7	134,720,637 (GRCm39)	missense	probably damaging	1.00
R5212:Dock1	UTSW	7	134,390,923 (GRCm39)	missense	possibly damaging	0.68
R5648:Dock1	UTSW	7	134,348,683 (GRCm39)	missense	probably damaging	1.00
R5685:Dock1	UTSW	7	134,374,091 (GRCm39)	missense	probably benign	0.19
R5834:Dock1	UTSW	7	134,365,662 (GRCm39)	missense	probably damaging	1.00
R6181:Dock1	UTSW	7	134,760,251 (GRCm39)	missense	probably damaging	1.00
R6334:Dock1	UTSW	7	134,453,305 (GRCm39)	missense	probably benign	0.01
R6406:Dock1	UTSW	7	134,747,215 (GRCm39)	missense	probably benign	0.26
R6425:Dock1	UTSW	7	134,765,110 (GRCm39)	missense	possibly damaging	0.79
R6489:Dock1	UTSW	7	134,592,270 (GRCm39)	missense	probably damaging	0.99
R6616:Dock1	UTSW	7	134,710,221 (GRCm39)	missense	possibly damaging	0.85
R6706:Dock1	UTSW	7	134,735,615 (GRCm39)	missense	possibly damaging	0.72
R6766:Dock1	UTSW	7	134,358,522 (GRCm39)	splice site	probably null
R6861:Dock1	UTSW	7	134,373,207 (GRCm39)	missense	probably benign	0.00
R6985:Dock1	UTSW	7	134,765,132 (GRCm39)	missense	possibly damaging	0.95
R7259:Dock1	UTSW	7	134,384,477 (GRCm39)	missense	probably damaging	0.99
R7285:Dock1	UTSW	7	134,346,737 (GRCm39)	missense	probably benign	0.01
R7471:Dock1	UTSW	7	134,765,072 (GRCm39)	missense	possibly damaging	0.65
R7497:Dock1	UTSW	7	134,367,003 (GRCm39)	missense	probably benign
R7691:Dock1	UTSW	7	134,739,886 (GRCm39)	critical splice donor site	probably null
R7732:Dock1	UTSW	7	134,346,699 (GRCm39)	missense	probably benign	0.01
R7818:Dock1	UTSW	7	134,365,594 (GRCm39)	missense	probably damaging	1.00
R7918:Dock1	UTSW	7	134,747,147 (GRCm39)	missense	probably damaging	1.00
R7961:Dock1	UTSW	7	134,346,786 (GRCm39)	missense	possibly damaging	0.77
R7985:Dock1	UTSW	7	134,348,683 (GRCm39)	missense	possibly damaging	0.95
R8009:Dock1	UTSW	7	134,346,786 (GRCm39)	missense	possibly damaging	0.77
R8060:Dock1	UTSW	7	134,592,358 (GRCm39)	splice site	probably benign
R8060:Dock1	UTSW	7	134,770,132 (GRCm39)	missense	probably benign
R8061:Dock1	UTSW	7	134,374,052 (GRCm39)	missense	probably benign	0.00
R8101:Dock1	UTSW	7	134,601,017 (GRCm39)	missense	possibly damaging	0.89
R8405:Dock1	UTSW	7	134,379,192 (GRCm39)	missense	probably benign	0.04
R8508:Dock1	UTSW	7	134,384,138 (GRCm39)	missense	probably benign	0.00
R8803:Dock1	UTSW	7	134,475,816 (GRCm39)	missense	probably benign	0.28
R9007:Dock1	UTSW	7	134,500,825 (GRCm39)	intron	probably benign
R9026:Dock1	UTSW	7	134,720,746 (GRCm39)	missense	probably damaging	0.97
R9111:Dock1	UTSW	7	134,601,017 (GRCm39)	missense	possibly damaging	0.89
R9359:Dock1	UTSW	7	134,770,125 (GRCm39)	missense	probably benign
R9398:Dock1	UTSW	7	134,774,228 (GRCm39)	missense	probably damaging	0.99
R9403:Dock1	UTSW	7	134,770,125 (GRCm39)	missense	probably benign
R9408:Dock1	UTSW	7	134,717,065 (GRCm39)	missense	probably damaging	0.99
R9476:Dock1	UTSW	7	134,592,279 (GRCm39)	missense	probably benign	0.10
R9478:Dock1	UTSW	7	134,367,962 (GRCm39)	missense	probably damaging	1.00
R9510:Dock1	UTSW	7	134,592,279 (GRCm39)	missense	probably benign	0.10
R9544:Dock1	UTSW	7	134,348,186 (GRCm39)	missense	possibly damaging	0.71
R9605:Dock1	UTSW	7	134,384,141 (GRCm39)	missense	possibly damaging	0.49
R9657:Dock1	UTSW	7	134,339,429 (GRCm39)	missense	possibly damaging	0.58
R9767:Dock1	UTSW	7	134,342,796 (GRCm39)	missense	possibly damaging	0.68
X0062:Dock1	UTSW	7	134,710,180 (GRCm39)	missense	probably damaging	1.00
Z1088:Dock1	UTSW	7	134,406,276 (GRCm39)	missense	probably damaging	0.98
Z1177:Dock1	UTSW	7	134,384,129 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- TGCAGGACTTAGAGGCTTCG -3'
(R):5'- TCAGTACTTTCTCCTGGAAACAAC -3'

Sequencing Primer
(F):5'- CGCCTTCTCCACAGTCTGG -3'
(R):5'- TCTCCTAACTTGCTAAATGGAGC -3'

Posted On

2020-09-15