Mutagenetix > Incidental Mutation

Incidental Mutation 'R1659:Dock1'

186596

Institutional Source

Beutler Lab

Gene Symbol

Dock1

Ensembl Gene

ENSMUSG00000058325

Gene Name

dedicator of cytokinesis 1

Synonyms

D630004B07Rik, 9130006G06Rik, b2b3190Clo, Dock180

MMRRC Submission

039695-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1659 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

134272416-134775376 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 134390972 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 744 (Y744C)

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

probably damaging
Transcript: ENSMUST00000084488
AA Change: Y744C

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000081531
Gene: ENSMUSG00000058325
AA Change: Y744C

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000211570

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.6%
20x: 93.4%

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akap9	T	A	5: 4,114,633 (GRCm39)	L87Q	probably damaging	Het
Atp13a5	T	G	16: 29,112,251 (GRCm39)	D630A	probably benign	Het
Brd7	G	T	8: 89,060,420 (GRCm39)	P568T	probably damaging	Het
Ccdc141	A	G	2: 76,885,027 (GRCm39)	L538P	probably benign	Het
Cd177	G	T	7: 24,445,562 (GRCm39)	T627K	probably damaging	Het
Cd84	A	G	1: 171,700,317 (GRCm39)	T145A	possibly damaging	Het
Cdhr2	T	A	13: 54,867,574 (GRCm39)	I468N	probably damaging	Het
Cdk14	T	C	5: 4,999,571 (GRCm39)	T338A	probably benign	Het
Celsr2	G	A	3: 108,321,411 (GRCm39)	T467I	probably benign	Het
Chrd	A	G	16: 20,554,581 (GRCm39)	E380G	probably damaging	Het
Cnnm4	C	A	1: 36,511,246 (GRCm39)	T158N	probably benign	Het
Ddx51	T	A	5: 110,802,986 (GRCm39)	I254N	probably damaging	Het
Deptor	G	A	15: 55,081,670 (GRCm39)		probably null	Het
Dnah11	T	A	12: 118,084,459 (GRCm39)	H1215L	possibly damaging	Het
Dok7	C	T	5: 35,236,483 (GRCm39)	T257I	possibly damaging	Het
Eif4g1	T	C	16: 20,499,811 (GRCm39)	Y591H	probably damaging	Het
Fat3	T	C	9: 15,908,479 (GRCm39)	T2508A	possibly damaging	Het
Gm266	A	G	12: 111,451,723 (GRCm39)	V161A	probably damaging	Het
Golgb1	A	G	16: 36,707,979 (GRCm39)	I107V	probably benign	Het
Gpnmb	T	C	6: 49,024,786 (GRCm39)	F273L	probably damaging	Het
Hcn1	A	T	13: 118,112,610 (GRCm39)	Q858L	probably damaging	Het
Hcrtr1	G	T	4: 130,029,129 (GRCm39)	Y224*	probably null	Het
Hepacam	A	G	9: 37,291,954 (GRCm39)	D94G	probably benign	Het
Herc2	T	A	7: 55,784,853 (GRCm39)	H1432Q	probably benign	Het
Il20	T	A	1: 130,836,086 (GRCm39)		probably null	Het
Itga10	A	G	3: 96,570,293 (GRCm39)	T1150A	probably damaging	Het
Itgax	C	T	7: 127,730,063 (GRCm39)	T73I	probably benign	Het
Kdm6b	T	A	11: 69,298,414 (GRCm39)	Q98L	possibly damaging	Het
Lrrc7	A	G	3: 157,867,045 (GRCm39)	W899R	probably damaging	Het
Meikin	C	A	11: 54,281,392 (GRCm39)	S154*	probably null	Het
Mrgprg	A	T	7: 143,318,288 (GRCm39)	S275T	possibly damaging	Het
Mstn	C	T	1: 53,103,236 (GRCm39)	R191*	probably null	Het
Neu3	A	G	7: 99,462,640 (GRCm39)	I361T	probably damaging	Het
Nrxn3	A	G	12: 90,299,165 (GRCm39)	D425G	probably damaging	Het
Nup205	T	A	6: 35,211,723 (GRCm39)	M1688K	probably benign	Het
Omg	C	T	11: 79,393,726 (GRCm39)	C44Y	possibly damaging	Het
Or1d2	A	T	11: 74,255,759 (GRCm39)	Q88L	probably benign	Het
Or52n3	A	G	7: 104,530,387 (GRCm39)	M158V	probably benign	Het
Pcdh8	T	C	14: 80,005,574 (GRCm39)	D938G	probably damaging	Het
Pp2d1	T	C	17: 53,822,406 (GRCm39)	D220G	possibly damaging	Het
Prune2	C	T	19: 17,098,015 (GRCm39)	T1173I	possibly damaging	Het
Rbfox3	T	C	11: 118,384,981 (GRCm39)	T359A	probably damaging	Het
Rhpn2	A	G	7: 35,076,466 (GRCm39)	Y339C	probably damaging	Het
Rpl7a-ps3	A	G	15: 36,308,309 (GRCm39)		noncoding transcript	Het
Sars1	T	C	3: 108,336,732 (GRCm39)	E217G	probably damaging	Het
Sec61a2	A	G	2: 5,891,345 (GRCm39)	F62S	possibly damaging	Het
Slc12a7	T	A	13: 73,938,790 (GRCm39)	I189N	probably damaging	Het
Slc5a10	G	A	11: 61,567,070 (GRCm39)	A375V	possibly damaging	Het
Srfbp1	C	T	18: 52,621,967 (GRCm39)	H343Y	possibly damaging	Het
Tbck	T	G	3: 132,440,116 (GRCm39)	I486M	probably damaging	Het
Thra	G	A	11: 98,647,805 (GRCm39)	A60T	probably damaging	Het
Thsd7a	T	A	6: 12,504,063 (GRCm39)	T364S	possibly damaging	Het
Ttc16	C	T	2: 32,652,547 (GRCm39)	D761N	probably benign	Het
Vwa7	T	C	17: 35,238,047 (GRCm39)	L216P	probably benign	Het
Ydjc	T	C	16: 16,965,703 (GRCm39)	V156A	possibly damaging	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
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
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'- TCACCCCTGTAAAATTCCTGCACTG -3'
(R):5'- ACACTTTCTGAGCCTCTGGGATACC -3'

Sequencing Primer
(F):5'- TCCTGCACTGCCAGGAAG -3'
(R):5'- TGACAGGGGCAaggagaag -3'

Posted On

2014-05-09