Mutagenetix > Incidental Mutation

Incidental Mutation 'R0347:Dock1'

38455

Institutional Source

Beutler Lab

Gene Symbol

Dock1

Ensembl Gene

ENSMUSG00000058325

Gene Name

dedicator of cytokinesis 1

Synonyms

D630004B07Rik, 9130006G06Rik, b2b3190Clo, Dock180

MMRRC Submission

038554-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0347 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

134272416-134775376 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 134365596 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 428 (I428T)

Ref Sequence

ENSEMBL: ENSMUSP00000081531 (fasta)

Gene Model

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

AlphaFold

Q8BUR4

PDB Structure

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000084488
AA Change: I428T

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000081531
Gene: ENSMUSG00000058325
AA Change: I428T

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: ENSMUST00000210464

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000210617

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000211570

Predicted Effect

possibly damaging
Transcript: ENSMUST00000211593
AA Change: I428T

PolyPhen 2 Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)

Meta Mutation Damage Score

0.9135

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.2%
20x: 91.8%

Validation Efficiency

100% (78/78)

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: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca4	A	G	3: 121,913,748 (GRCm39)	E908G	probably benign	Het
Abcb5	T	A	12: 118,928,986 (GRCm39)		probably benign	Het
Adhfe1	T	A	1: 9,623,655 (GRCm39)	F102Y	probably benign	Het
Aff4	A	G	11: 53,290,915 (GRCm39)	Y625C	probably benign	Het
Alox5	T	C	6: 116,390,513 (GRCm39)	E488G	possibly damaging	Het
Ankmy2	T	C	12: 36,243,753 (GRCm39)	C323R	probably damaging	Het
Ankrd28	A	G	14: 31,423,979 (GRCm39)	*1084R	probably null	Het
Apol10a	A	T	15: 77,372,891 (GRCm39)	I176F	probably damaging	Het
Arhgap26	C	T	18: 38,750,797 (GRCm39)	T70I	unknown	Het
Arid2	A	G	15: 96,268,833 (GRCm39)	N982S	probably benign	Het
Bcl2	G	A	1: 106,640,292 (GRCm39)	R107C	probably damaging	Het
Camsap3	A	G	8: 3,652,029 (GRCm39)	D291G	probably damaging	Het
Camta1	C	A	4: 151,159,597 (GRCm39)	R1614L	probably damaging	Het
Cdc20b	G	T	13: 113,196,361 (GRCm39)	G162V	probably damaging	Het
Cep44	T	G	8: 56,998,510 (GRCm39)	E56A	probably damaging	Het
Cfap410	A	T	10: 77,820,256 (GRCm39)	I209F	probably damaging	Het
Cfap65	A	G	1: 74,965,603 (GRCm39)	L469P	probably damaging	Het
Cilp	T	A	9: 65,187,435 (GRCm39)	C1177S	probably benign	Het
Ctnnbip1	C	T	4: 149,630,211 (GRCm39)	P7S	probably damaging	Het
Cyp11a1	T	C	9: 57,923,543 (GRCm39)		probably benign	Het
Cyp3a11	C	T	5: 145,802,735 (GRCm39)	V253M	possibly damaging	Het
D630045J12Rik	C	A	6: 38,158,327 (GRCm39)	V1117L	probably damaging	Het
Dnah7b	T	A	1: 46,280,104 (GRCm39)	S2678T	probably damaging	Het
Fam83f	A	G	15: 80,556,458 (GRCm39)	D114G	probably damaging	Het
Flt3	T	A	5: 147,294,802 (GRCm39)	N423I	probably damaging	Het
Fnbp1l	A	T	3: 122,383,824 (GRCm39)	F31L	probably damaging	Het
Glrx3	G	A	7: 137,039,430 (GRCm39)	E10K	unknown	Het
Gm12185	T	C	11: 48,806,009 (GRCm39)	E394G	probably benign	Het
Gpatch1	C	T	7: 34,997,056 (GRCm39)	V381M	probably benign	Het
Grm8	T	C	6: 27,981,221 (GRCm39)	S230G	probably benign	Het
Heyl	A	T	4: 123,127,733 (GRCm39)	D25V	probably benign	Het
Junb	G	A	8: 85,705,107 (GRCm39)		probably benign	Het
Klhl29	C	A	12: 5,134,354 (GRCm39)	V747F	probably damaging	Het
Krt77	T	C	15: 101,768,304 (GRCm39)	H569R	unknown	Het
Ldhb	T	C	6: 142,439,859 (GRCm39)	N227S	probably benign	Het
Megf6	A	G	4: 154,339,092 (GRCm39)	D543G	possibly damaging	Het
Mrps23	A	T	11: 88,101,519 (GRCm39)	Q136L	probably benign	Het
Myh2	C	T	11: 67,076,130 (GRCm39)		probably benign	Het
Nadk2	T	A	15: 9,084,287 (GRCm39)	D133E	probably benign	Het
Neurod4	G	A	10: 130,106,980 (GRCm39)	T98I	probably damaging	Het
Nfatc2	G	T	2: 168,378,210 (GRCm39)	T465K	probably damaging	Het
Nipbl	A	G	15: 8,380,216 (GRCm39)	S859P	probably benign	Het
Nipsnap3a	T	C	4: 52,997,155 (GRCm39)		probably benign	Het
Nlrp4c	A	G	7: 6,069,415 (GRCm39)	K439E	possibly damaging	Het
Or10q3	A	T	19: 11,847,797 (GRCm39)	L261H	probably damaging	Het
Or1e32	C	T	11: 73,705,137 (GRCm39)	G257D	probably damaging	Het
Or2a20	T	C	6: 43,194,296 (GRCm39)	F150L	probably benign	Het
Pds5b	T	A	5: 150,659,892 (GRCm39)		probably benign	Het
Pira13	A	T	7: 3,825,873 (GRCm39)	V332E	probably damaging	Het
Plch1	A	G	3: 63,660,737 (GRCm39)	M282T	probably damaging	Het
Plch2	C	A	4: 155,071,178 (GRCm39)	R1067L	possibly damaging	Het
Polr1has	T	A	17: 37,276,207 (GRCm39)	M114K	probably damaging	Het
Pou2f2	A	C	7: 24,797,126 (GRCm39)	F206V	probably damaging	Het
Prss50	A	G	9: 110,691,418 (GRCm39)	I49V	probably damaging	Het
Rexo5	T	A	7: 119,423,119 (GRCm39)		probably null	Het
Rgl2	C	T	17: 34,151,712 (GRCm39)	T252I	probably damaging	Het
Rp1l1	A	T	14: 64,268,253 (GRCm39)	K1280*	probably null	Het
Rpl24	T	A	16: 55,790,540 (GRCm39)		probably null	Het
Satb1	T	A	17: 52,046,934 (GRCm39)	K763*	probably null	Het
Scart2	T	A	7: 139,877,767 (GRCm39)	H800Q	probably damaging	Het
Sema6a	T	A	18: 47,424,196 (GRCm39)	R237S	probably damaging	Het
Spg11	T	C	2: 121,927,850 (GRCm39)	T645A	probably damaging	Het
Srrt	T	A	5: 137,297,938 (GRCm39)		probably benign	Het
Tanc1	T	C	2: 59,673,335 (GRCm39)	V1480A	probably benign	Het
Tbc1d2	T	C	4: 46,620,574 (GRCm39)	D412G	possibly damaging	Het
Tecrl	T	C	5: 83,442,479 (GRCm39)	E198G	probably damaging	Het
Tigd4	A	G	3: 84,501,167 (GRCm39)	D28G	probably damaging	Het
Trp53bp2	T	G	1: 182,269,213 (GRCm39)	L226V	probably benign	Het
Ttll13	T	C	7: 79,910,253 (GRCm39)	S799P	possibly damaging	Het
Vps13c	A	T	9: 67,817,515 (GRCm39)	Q1062H	possibly damaging	Het
Wnt10a	T	G	1: 74,832,702 (GRCm39)	H98Q	probably damaging	Het
Zbtb47	C	T	9: 121,592,168 (GRCm39)	P198S	probably damaging	Het
Zfp959	T	A	17: 56,204,180 (GRCm39)	Y69*	probably null	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
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
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'- TGGGCGGCTTACAAATGTCTCTAC -3'
(R):5'- TGGATTCCCAGAACACAATGGCAAG -3'

Sequencing Primer
(F):5'- ATTGGGGCCACTCTGACTAC -3'
(R):5'- GAAGGCAGGCACCCATAC -3'

Posted On

2013-05-23