Mutagenetix > Incidental Mutation

Incidental Mutation 'R6766:Dock1'

531928

Institutional Source

Beutler Lab

Gene Symbol

Dock1

Ensembl Gene

ENSMUSG00000058325

Gene Name

dedicator of cytokinesis 1

Synonyms

D630004B07Rik, 9130006G06Rik, b2b3190Clo, Dock180

MMRRC Submission

044882-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6766 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

134272416-134775376 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to A at 134358522 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000147945 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000084488] [ENSMUST00000211593]

AlphaFold

Q8BUR4

Predicted Effect

probably null
Transcript: ENSMUST00000084488

SMART Domains

Protein: ENSMUSP00000081531
Gene: ENSMUSG00000058325

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

probably null
Transcript: ENSMUST00000211593

Coding Region Coverage

1x: 99.9%
3x: 99.8%
10x: 98.8%
20x: 96.7%

Validation Efficiency

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam32	G	A	8: 25,362,646 (GRCm39)	S17L	probably damaging	Het
Akt3	A	T	1: 176,877,756 (GRCm39)	Y337*	probably null	Het
Ankrd34c	A	G	9: 89,611,381 (GRCm39)	V320A	probably benign	Het
Aox1	C	A	1: 58,388,227 (GRCm39)	L1112I	possibly damaging	Het
Arap2	A	C	5: 62,834,443 (GRCm39)		probably null	Het
Atm	A	T	9: 53,401,582 (GRCm39)	I1429N	probably damaging	Het
Ccdc68	A	G	18: 70,099,861 (GRCm39)	N290D	probably damaging	Het
Chst1	T	C	2: 92,443,542 (GRCm39)	W5R	probably damaging	Het
Clip1	G	T	5: 123,752,827 (GRCm39)		probably benign	Het
Crebbp	T	C	16: 3,935,364 (GRCm39)	T842A	probably damaging	Het
Cyp2b13	T	C	7: 25,781,236 (GRCm39)		probably null	Het
Dnah8	G	A	17: 30,967,542 (GRCm39)	D2585N	probably benign	Het
Dst	A	G	1: 34,333,564 (GRCm39)	I4800V	probably damaging	Het
Efcab7	CAAGTAAAGTAA	CAAGTAA	4: 99,735,161 (GRCm39)		probably null	Het
Epb41l2	C	T	10: 25,348,990 (GRCm39)	Q382*	probably null	Het
Fam83e	A	G	7: 45,376,070 (GRCm39)	D261G	probably damaging	Het
Ifnk	T	G	4: 35,152,134 (GRCm39)	S21A	possibly damaging	Het
Ift122	A	G	6: 115,903,204 (GRCm39)	H1157R	probably benign	Het
Ighv1-67	T	C	12: 115,567,654 (GRCm39)	K67R	possibly damaging	Het
Inpp4a	C	A	1: 37,411,422 (GRCm39)	A97D	probably damaging	Het
Insm1	T	A	2: 146,065,346 (GRCm39)	Y387*	probably null	Het
Irgm1	T	C	11: 48,756,928 (GRCm39)	I294M	possibly damaging	Het
Isoc2b	C	T	7: 4,854,061 (GRCm39)	V104M	probably damaging	Het
Kif2c	A	C	4: 117,024,280 (GRCm39)	S311R	probably benign	Het
Morn3	G	A	5: 123,179,270 (GRCm39)	A60V	probably damaging	Het
Oit3	T	C	10: 59,274,534 (GRCm39)	N89D	probably damaging	Het
Or14c40	A	T	7: 86,313,293 (GRCm39)	N141I	probably damaging	Het
Or4c116	G	T	2: 88,942,640 (GRCm39)	T72N	possibly damaging	Het
Or4c127	T	C	2: 89,832,876 (GRCm39)	V42A	probably benign	Het
Or5d44	T	A	2: 88,142,095 (GRCm39)	Q15L	noncoding transcript	Het
Or8b48	A	C	9: 38,493,069 (GRCm39)	R165S	probably damaging	Het
Pan2	C	A	10: 128,150,381 (GRCm39)	N708K	possibly damaging	Het
Parp1	T	A	1: 180,425,927 (GRCm39)	V886E	probably damaging	Het
Pcdha8	C	A	18: 37,127,753 (GRCm39)	A745E	probably benign	Het
Pcyox1	C	T	6: 86,371,390 (GRCm39)		probably null	Het
Prl2c2	A	T	13: 13,176,713 (GRCm39)		probably null	Het
Samd1	T	C	8: 84,726,361 (GRCm39)	S473P	possibly damaging	Het
Slc26a1	A	T	5: 108,819,773 (GRCm39)	D475E	probably damaging	Het
Slco1c1	T	C	6: 141,493,535 (GRCm39)	V239A	possibly damaging	Het
Smo	T	A	6: 29,736,044 (GRCm39)	L12Q	unknown	Homo
Srpk1	C	T	17: 28,821,727 (GRCm39)	R229Q	possibly damaging	Het
Syn2	T	A	6: 115,216,362 (GRCm39)	F191L	probably damaging	Het
Syngr2	T	C	11: 117,704,261 (GRCm39)	V182A	probably benign	Het
Tarbp1	G	A	8: 127,174,139 (GRCm39)	A889V	probably benign	Het
Tbc1d2b	T	C	9: 90,108,262 (GRCm39)	T430A	probably benign	Het
Tmem217	T	A	17: 29,745,484 (GRCm39)	Y82F	probably damaging	Het
Ttll9	T	A	2: 152,841,220 (GRCm39)	Y272*	probably null	Het
Uts2r	A	G	11: 121,052,033 (GRCm39)	Y299C	probably damaging	Het
Vsig8	T	A	1: 172,388,143 (GRCm39)	M37K	probably benign	Het
Vwf	G	T	6: 125,616,339 (GRCm39)	D1218Y	unknown	Het
Wdr11	T	G	7: 129,226,036 (GRCm39)	M727R	probably benign	Het
Wwc2	A	G	8: 48,353,826 (GRCm39)	Y103H	possibly damaging	Het
Yod1	T	A	1: 130,647,008 (GRCm39)	L295*	probably null	Het
Zfp113	G	T	5: 138,143,608 (GRCm39)	S214*	probably null	Het
Zfp438	T	A	18: 5,213,780 (GRCm39)	M393L	probably benign	Het
Zfp946	G	A	17: 22,674,752 (GRCm39)	C502Y	probably benign	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
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
R7960:Dock1	UTSW	7	134,678,917 (GRCm39)	missense	possibly damaging	0.83
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'- TTAGCAATGGAGTGGAGCCC -3'
(R):5'- ACACACCTTGTCCCTTGTGG -3'

Sequencing Primer
(F):5'- AGTGGAGCCCTGTGCACATG -3'
(R):5'- GTTGACTTCTTTGGCTGCAATGAC -3'

Posted On

2018-08-29