Mutagenetix > Incidental Mutation

Incidental Mutation 'R9026:Dock1'

686740

Institutional Source

Beutler Lab

Gene Symbol

Dock1

Ensembl Gene

ENSMUSG00000058325

Gene Name

dedicator of cytokinesis 1

Synonyms

D630004B07Rik, 9130006G06Rik, b2b3190Clo, Dock180

MMRRC Submission

068855-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9026 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

134272416-134775376 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 134720746 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 1285 (D1285G)

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: D1285G

PolyPhen 2 Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000081531
Gene: ENSMUSG00000058325
AA Change: D1285G

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: 99.9%
10x: 99.7%
20x: 99.2%

Validation Efficiency

100% (81/81)

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: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	C	A	3: 137,770,909 (GRCm39)	Q33K	possibly damaging	Het
Acap2	A	G	16: 30,925,906 (GRCm39)	L550P	probably damaging	Het
Acsm3	A	T	7: 119,373,845 (GRCm39)	S244C	probably benign	Het
Adam28	T	A	14: 68,846,593 (GRCm39)	D740V	probably benign	Het
Adcy4	C	A	14: 56,016,426 (GRCm39)	V342L	probably damaging	Het
Adcyap1r1	A	G	6: 55,458,107 (GRCm39)	T303A	probably benign	Het
Agr2	T	C	12: 36,046,091 (GRCm39)	V74A	probably benign	Het
Akp3	A	T	1: 87,054,786 (GRCm39)	T374S	possibly damaging	Het
Ankrd36	A	T	11: 5,610,696 (GRCm39)	I1181L	probably benign	Het
Arhgap11a	A	T	2: 113,664,411 (GRCm39)	V624E	probably benign	Het
Arhgap30	A	T	1: 171,228,258 (GRCm39)	D112V	probably damaging	Het
Atp8b4	A	G	2: 126,184,883 (GRCm39)	F927L	probably benign	Het
Bend4	C	A	5: 67,584,475 (GRCm39)	G150C	unknown	Het
Cd300lg	T	A	11: 101,944,998 (GRCm39)	S403T	probably damaging	Het
Cep57l1	T	A	10: 41,607,086 (GRCm39)	Q159L	probably damaging	Het
Cipc	C	T	12: 86,999,634 (GRCm39)	T57M	probably damaging	Het
Def8	T	C	8: 124,186,391 (GRCm39)	C377R	probably damaging	Het
Efcab10	A	G	12: 33,448,398 (GRCm39)	D77G	probably damaging	Het
Eml4	C	T	17: 83,764,479 (GRCm39)	T663M	probably damaging	Het
Ercc8	A	G	13: 108,320,389 (GRCm39)	E325G	possibly damaging	Het
Ermap	C	A	4: 119,035,240 (GRCm39)	A583S	probably damaging	Het
F13a1	C	T	13: 37,102,506 (GRCm39)	G406S	probably null	Het
Faap20	T	A	4: 155,335,426 (GRCm39)	C141S	probably benign	Het
Fam193a	A	G	5: 34,616,536 (GRCm39)	T904A	possibly damaging	Het
Garin2	T	C	12: 78,757,097 (GRCm39)	F18S	probably benign	Het
Gas8	A	G	8: 124,260,134 (GRCm39)	D455G	probably benign	Het
Gm21863	T	C	12: 20,004,521 (GRCm39)	S6P	probably damaging	Het
Gm4841	A	T	18: 60,403,988 (GRCm39)	I35N	probably damaging	Het
Grk4	T	A	5: 34,877,084 (GRCm39)	C260S	probably damaging	Het
Huwe1	G	A	X: 150,716,084 (GRCm39)	R4331Q	unknown	Het
Ighv5-6	A	G	12: 113,589,247 (GRCm39)	Y78H	probably benign	Het
Itpr3	G	A	17: 27,337,651 (GRCm39)		probably benign	Het
Kl	T	A	5: 150,876,491 (GRCm39)	S104T	probably benign	Het
Lyve1	C	A	7: 110,453,182 (GRCm39)	C138F	probably damaging	Het
Med27	G	A	2: 29,399,446 (GRCm39)	W92*	probably null	Het
Mical3	A	T	6: 120,986,848 (GRCm39)		probably benign	Het
Mrgpra4	C	A	7: 47,631,208 (GRCm39)	R131L	possibly damaging	Het
Myf5	T	C	10: 107,321,308 (GRCm39)	N162S	probably benign	Het
Myh15	G	A	16: 49,007,433 (GRCm39)	E1835K	probably damaging	Het
Myo9a	T	A	9: 59,716,757 (GRCm39)	Y486N	probably damaging	Het
Ncapg	T	A	5: 45,853,115 (GRCm39)	N860K	probably benign	Het
Nr4a3	T	C	4: 48,052,194 (GRCm39)	F316S	possibly damaging	Het
Nsd3	T	A	8: 26,172,576 (GRCm39)	S778R	probably benign	Het
Or2r2	A	G	6: 42,463,795 (GRCm39)	F111L	probably damaging	Het
Or4c119	A	T	2: 88,986,988 (GRCm39)	V177E	probably benign	Het
Or4c31	A	G	2: 88,292,196 (GRCm39)	I190V	probably damaging	Het
Or5p6	A	G	7: 107,631,286 (GRCm39)	F88S	probably damaging	Het
Or7e173	T	C	9: 19,938,344 (GRCm39)	N297D		Het
Or8b37	T	A	9: 37,958,885 (GRCm39)	Y122*	probably null	Het
Or8w1	A	T	2: 87,465,369 (GRCm39)	C241S	probably damaging	Het
Or9m2	A	G	2: 87,820,568 (GRCm39)	T38A	probably damaging	Het
Pdlim4	C	T	11: 53,946,280 (GRCm39)	G231S	probably benign	Het
Pknox2	C	T	9: 36,821,044 (GRCm39)	V273I	possibly damaging	Het
Pm20d1	A	G	1: 131,739,822 (GRCm39)	H390R	probably benign	Het
Prkg2	A	T	5: 99,114,386 (GRCm39)	D587E	probably benign	Het
Prps1l1	T	A	12: 35,035,546 (GRCm39)	D220E	possibly damaging	Het
Prss3l	A	G	6: 41,422,990 (GRCm39)	F4L	probably benign	Het
Ptchd3	T	C	11: 121,721,682 (GRCm39)	V185A	possibly damaging	Het
Rag2	A	T	2: 101,460,494 (GRCm39)	N268I	possibly damaging	Het
Rarres2	A	G	6: 48,549,020 (GRCm39)		probably null	Het
Rrp12	T	C	19: 41,860,223 (GRCm39)	H1000R	probably benign	Het
S100a2	A	T	3: 90,498,811 (GRCm39)	Y104F	unknown	Het
Sell	A	G	1: 163,893,042 (GRCm39)	Y86C	probably damaging	Het
Serpinb6d	A	T	13: 33,851,656 (GRCm39)	T138S	possibly damaging	Het
Slamf7	T	A	1: 171,466,312 (GRCm39)	I228F	probably benign	Het
Slc11a1	G	A	1: 74,416,325 (GRCm39)	V92M	probably damaging	Het
Spi1	A	G	2: 90,912,862 (GRCm39)	N5S	unknown	Het
Stard9	G	T	2: 120,536,283 (GRCm39)	D4151Y	probably damaging	Het
Stmnd1	A	G	13: 46,452,983 (GRCm39)	T220A	probably benign	Het
Tacc2	G	T	7: 130,225,266 (GRCm39)	W650C	probably damaging	Het
Tmc5	A	G	7: 118,241,594 (GRCm39)	N429S	possibly damaging	Het
Tmem201	A	C	4: 149,812,627 (GRCm39)	L230V	probably benign	Het
Tmem222	T	C	4: 132,997,119 (GRCm39)	E94G	possibly damaging	Het
Trappc4	A	G	9: 44,315,655 (GRCm39)	F186S	probably damaging	Het
Trim17	A	G	11: 58,862,273 (GRCm39)	N435S	probably benign	Het
Trim68	A	T	7: 102,329,447 (GRCm39)	L227Q	probably damaging	Het
Tuba3b	T	G	6: 145,563,996 (GRCm39)	V14G	possibly damaging	Het
Ubr2	G	T	17: 47,245,041 (GRCm39)	H1662N	probably damaging	Het
Vps13c	T	A	9: 67,861,863 (GRCm39)	V2915E	probably damaging	Het
Vsig10	C	T	5: 117,476,323 (GRCm39)	T259I	probably benign	Het
Zfp267	A	G	3: 36,219,066 (GRCm39)	Y363C	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
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
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'- ATGCCTGCCTTAGTGCTTAG -3'
(R):5'- CTTATAAGTACGAGCCAGAGGAAC -3'

Sequencing Primer
(F):5'- GTGATATTATTTAACATGCCCCTGC -3'
(R):5'- CTAGGTTCTATGCCCCAGTATAGG -3'

Posted On

2021-11-19