Mutagenetix > Incidental Mutation

Incidental Mutation 'R1693:Dock4'

191952

Institutional Source

Beutler Lab

Gene Symbol

Dock4

Ensembl Gene

ENSMUSG00000035954

Gene Name

dedicator of cytokinesis 4

Synonyms

6330411N01Rik, EST N28122

MMRRC Submission

039726-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.181) question?

Stock #

R1693 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

40495956-40896873 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 40884721 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Serine at position 1742 (P1742S)

Ref Sequence

ENSEMBL: ENSMUSP00000152420 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000037488] [ENSMUST00000220912]

AlphaFold

P59764

Predicted Effect

probably benign
Transcript: ENSMUST00000037488
AA Change: P1742S

PolyPhen 2 Score 0.041 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000047387
Gene: ENSMUSG00000035954
AA Change: P1742S

Domain	Start	End	E-Value	Type
SH3	9	66	7.29e-10	SMART
Pfam:DOCK_N	69	392	8.2e-110	PFAM
Pfam:DOCK-C2	397	583	1.9e-55	PFAM
low complexity region	829	842	N/A	INTRINSIC
Pfam:DHR-2	1092	1596	5e-108	PFAM
low complexity region	1651	1664	N/A	INTRINSIC
low complexity region	1681	1696	N/A	INTRINSIC
low complexity region	1700	1713	N/A	INTRINSIC
low complexity region	1842	1872	N/A	INTRINSIC
low complexity region	1883	1896	N/A	INTRINSIC
low complexity region	1940	1950	N/A	INTRINSIC
low complexity region	1958	1973	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000220912
AA Change: P1742S

PolyPhen 2 Score 0.068 (Sensitivity: 0.94; Specificity: 0.84)

Meta Mutation Damage Score

0.0625

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.2%
20x: 92.2%

Validation Efficiency

96% (69/72)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the dedicator of cytokinesis (DOCK) family and encodes a protein with a DHR-1 (CZH-1) domain, a DHR-2 (CZH-2) domain and an SH3 domain. This membrane-associated, cytoplasmic protein functions as a guanine nucleotide exchange factor and is involved in regulation of adherens junctions between cells. Mutations in this gene have been associated with ovarian, prostate, glioma, and colorectal cancers. Alternatively spliced variants which encode different protein isoforms have been described, but only one has been fully characterized. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous disruption of this gene leads to complete embryonic lethality. Heterozygotes display altered blood vessel lumen formation. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aff4	A	G	11: 53,287,380 (GRCm39)	D378G	probably damaging	Het
Anpep	C	T	7: 79,488,004 (GRCm39)	E518K	probably benign	Het
Aox1	T	C	1: 58,124,701 (GRCm39)	Y981H	probably damaging	Het
Arfgap2	T	A	2: 91,100,420 (GRCm39)		probably null	Het
Ccnf	TGGGGG	TGGGGGGG	17: 24,445,514 (GRCm39)		probably null	Het
Cd53	T	C	3: 106,676,205 (GRCm39)	N54S	possibly damaging	Het
Cep152	C	A	2: 125,408,174 (GRCm39)	A1390S	probably benign	Het
Cfap91	A	G	16: 38,162,085 (GRCm39)	Y19H	probably benign	Het
Chd7	T	C	4: 8,864,307 (GRCm39)		probably null	Het
Chrm5	A	G	2: 112,309,625 (GRCm39)	L497P	probably damaging	Het
Colec12	G	A	18: 9,866,765 (GRCm39)	V659M	unknown	Het
Creb3	C	A	4: 43,566,755 (GRCm39)	H390Q	probably damaging	Het
D1Pas1	T	C	1: 186,700,226 (GRCm39)	F52L	probably benign	Het
D5Ertd579e	A	G	5: 36,771,441 (GRCm39)	F985L	probably damaging	Het
Ehmt2	G	T	17: 35,125,386 (GRCm39)	V534L	possibly damaging	Het
Epcam	A	G	17: 87,947,324 (GRCm39)	D26G	probably benign	Het
F2	C	T	2: 91,459,524 (GRCm39)	V420M	probably damaging	Het
Fbxw16	A	T	9: 109,265,327 (GRCm39)	D401E	possibly damaging	Het
Fiz1	T	C	7: 5,011,727 (GRCm39)	T264A	probably benign	Het
Fsbp	T	C	4: 11,583,745 (GRCm39)	V148A	probably benign	Het
Furin	A	G	7: 80,042,230 (GRCm39)	L455P	probably damaging	Het
Ggt7	G	A	2: 155,348,395 (GRCm39)	R10W	probably damaging	Het
Gucy2g	T	C	19: 55,211,358 (GRCm39)	E624G	probably damaging	Het
Igf2r	A	G	17: 12,923,203 (GRCm39)	F1202S	probably damaging	Het
Ikzf1	C	T	11: 11,657,838 (GRCm39)	P32S	probably damaging	Het
Itgal	G	A	7: 126,904,453 (GRCm39)	V309M	probably damaging	Het
Kcnk5	C	A	14: 20,191,964 (GRCm39)	R399L	probably damaging	Het
Kdm5b	C	T	1: 134,525,314 (GRCm39)		probably benign	Het
Lrp2	C	T	2: 69,340,762 (GRCm39)	V1038M	probably damaging	Het
Lrp4	T	C	2: 91,322,698 (GRCm39)	Y1096H	probably damaging	Het
Lrrc7	C	G	3: 157,790,170 (GRCm39)	S1465T	possibly damaging	Het
Map3k5	A	G	10: 19,979,988 (GRCm39)	N832S	probably damaging	Het
Mrtfb	C	A	16: 13,216,334 (GRCm39)	L349I	possibly damaging	Het
Mrtfb	T	A	16: 13,216,335 (GRCm39)	L349Q	probably damaging	Het
Myh13	A	C	11: 67,232,310 (GRCm39)	M495L	possibly damaging	Het
Myh9	A	C	15: 77,697,097 (GRCm39)	Y106D	probably damaging	Het
Naa16	A	T	14: 79,588,896 (GRCm39)	W452R	probably damaging	Het
Nsd1	T	C	13: 55,395,074 (GRCm39)	S892P	probably benign	Het
Nup205	A	G	6: 35,187,906 (GRCm39)	I939V	probably benign	Het
Oit3	A	G	10: 59,261,239 (GRCm39)	F476S	probably damaging	Het
Or7e174	T	C	9: 20,012,883 (GRCm39)	V276A	probably benign	Het
Panx3	A	T	9: 37,580,203 (GRCm39)	M50K	possibly damaging	Het
Panx3	A	C	9: 37,580,242 (GRCm39)	M37R	possibly damaging	Het
Pip4p2	T	A	4: 14,886,631 (GRCm39)	D68E	probably benign	Het
Ppp2r5e	C	G	12: 75,516,341 (GRCm39)	A239P	probably damaging	Het
Prkaca	T	A	8: 84,707,827 (GRCm39)	D37E	probably benign	Het
Prkcq	T	A	2: 11,259,010 (GRCm39)	I310N	probably damaging	Het
Prrc2c	A	G	1: 162,546,282 (GRCm39)	Y235H	probably damaging	Het
Ptprj	A	T	2: 90,280,141 (GRCm39)	C1052*	probably null	Het
Rad52	C	A	6: 119,892,996 (GRCm39)	P180Q	probably damaging	Het
Sdhaf3	T	A	6: 7,038,964 (GRCm39)	D95E	probably benign	Het
Slitrk6	A	G	14: 110,988,360 (GRCm39)	I449T	probably damaging	Het
Spata7	T	A	12: 98,630,516 (GRCm39)	M358K	possibly damaging	Het
Tada2a	C	T	11: 83,972,895 (GRCm39)	G178D	probably damaging	Het
Tap2	G	C	17: 34,428,186 (GRCm39)	V287L	probably benign	Het
Tmem200a	A	G	10: 25,869,877 (GRCm39)	F131L	possibly damaging	Het
Traip	A	T	9: 107,847,229 (GRCm39)	K356M	probably damaging	Het
Tspan8	T	A	10: 115,679,949 (GRCm39)		probably benign	Het
U2surp	A	T	9: 95,393,913 (GRCm39)	M1K	probably null	Het
Vars1	A	T	17: 35,217,172 (GRCm39)	D427E	probably benign	Het
Vmn1r113	G	A	7: 20,521,532 (GRCm39)	C108Y	probably damaging	Het
Vmn2r63	T	A	7: 42,577,743 (GRCm39)	Q265L	probably benign	Het
Vps33b	T	A	7: 79,937,641 (GRCm39)	V463E	probably damaging	Het
Vrtn	T	C	12: 84,695,429 (GRCm39)	S60P	probably benign	Het
Zfp53	T	A	17: 21,729,884 (GRCm39)	V639D	possibly damaging	Het
Zfp964	T	A	8: 70,116,800 (GRCm39)	S466T	possibly damaging	Het

Other mutations in Dock4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00427:Dock4	APN	12	40,882,305 (GRCm39)	missense	possibly damaging	0.48
IGL00726:Dock4	APN	12	40,840,067 (GRCm39)	splice site	probably benign
IGL00790:Dock4	APN	12	40,884,390 (GRCm39)	missense	probably damaging	1.00
IGL01061:Dock4	APN	12	40,752,968 (GRCm39)	missense	probably benign	0.01
IGL01083:Dock4	APN	12	40,838,380 (GRCm39)	splice site	probably benign
IGL01412:Dock4	APN	12	40,780,040 (GRCm39)	splice site	probably benign
IGL01583:Dock4	APN	12	40,860,466 (GRCm39)	nonsense	probably null
IGL01603:Dock4	APN	12	40,743,030 (GRCm39)	missense	probably damaging	1.00
IGL01766:Dock4	APN	12	40,496,378 (GRCm39)	nonsense	probably null
IGL02067:Dock4	APN	12	40,884,384 (GRCm39)	missense	probably damaging	1.00
IGL02302:Dock4	APN	12	40,775,776 (GRCm39)	missense	probably damaging	1.00
IGL02406:Dock4	APN	12	40,827,206 (GRCm39)	missense	probably benign	0.01
IGL02547:Dock4	APN	12	40,787,478 (GRCm39)	missense	probably benign
IGL02613:Dock4	APN	12	40,860,465 (GRCm39)	missense	probably damaging	1.00
IGL02643:Dock4	APN	12	40,718,429 (GRCm39)	missense	probably damaging	1.00
IGL02952:Dock4	APN	12	40,760,902 (GRCm39)	critical splice donor site	probably null
IGL02994:Dock4	APN	12	40,829,159 (GRCm39)	missense	probably damaging	0.99
IGL03096:Dock4	APN	12	40,798,000 (GRCm39)	missense	probably benign	0.00
IGL03144:Dock4	APN	12	40,742,906 (GRCm39)	splice site	probably benign
IGL03223:Dock4	APN	12	40,867,593 (GRCm39)	missense	probably damaging	1.00
IGL03296:Dock4	APN	12	40,783,256 (GRCm39)	missense	possibly damaging	0.84
IGL03349:Dock4	APN	12	40,783,309 (GRCm39)	missense	probably benign	0.42
IGL03353:Dock4	APN	12	40,867,757 (GRCm39)	splice site	probably null
BB005:Dock4	UTSW	12	40,838,302 (GRCm39)	missense	probably damaging	0.98
BB015:Dock4	UTSW	12	40,838,302 (GRCm39)	missense	probably damaging	0.98
R0046:Dock4	UTSW	12	40,787,359 (GRCm39)	splice site	probably benign
R0046:Dock4	UTSW	12	40,787,359 (GRCm39)	splice site	probably benign
R0110:Dock4	UTSW	12	40,671,311 (GRCm39)	splice site	probably benign
R0238:Dock4	UTSW	12	40,787,539 (GRCm39)	missense	probably damaging	0.98
R0238:Dock4	UTSW	12	40,787,539 (GRCm39)	missense	probably damaging	0.98
R0239:Dock4	UTSW	12	40,787,539 (GRCm39)	missense	probably damaging	0.98
R0239:Dock4	UTSW	12	40,787,539 (GRCm39)	missense	probably damaging	0.98
R0472:Dock4	UTSW	12	40,888,437 (GRCm39)	intron	probably benign
R0616:Dock4	UTSW	12	40,754,414 (GRCm39)	missense	probably benign	0.31
R0647:Dock4	UTSW	12	40,760,883 (GRCm39)	missense	probably damaging	1.00
R0706:Dock4	UTSW	12	40,752,922 (GRCm39)	missense	probably damaging	0.98
R0791:Dock4	UTSW	12	40,754,480 (GRCm39)	missense	probably damaging	1.00
R0940:Dock4	UTSW	12	40,681,626 (GRCm39)	splice site	probably benign
R1087:Dock4	UTSW	12	40,779,937 (GRCm39)	missense	probably benign	0.40
R1180:Dock4	UTSW	12	40,690,413 (GRCm39)	missense	possibly damaging	0.52
R1194:Dock4	UTSW	12	40,879,615 (GRCm39)	missense	probably damaging	1.00
R1463:Dock4	UTSW	12	40,866,324 (GRCm39)	frame shift	probably null
R1468:Dock4	UTSW	12	40,805,809 (GRCm39)	missense	probably benign	0.00
R1468:Dock4	UTSW	12	40,805,809 (GRCm39)	missense	probably benign	0.00
R1523:Dock4	UTSW	12	40,743,024 (GRCm39)	missense	possibly damaging	0.88
R1616:Dock4	UTSW	12	40,719,044 (GRCm39)	missense	probably damaging	0.99
R1682:Dock4	UTSW	12	40,775,779 (GRCm39)	missense	probably damaging	1.00
R1691:Dock4	UTSW	12	40,775,754 (GRCm39)	missense	probably benign	0.26
R1737:Dock4	UTSW	12	40,857,000 (GRCm39)	splice site	probably null
R1802:Dock4	UTSW	12	40,844,597 (GRCm39)	missense	possibly damaging	0.90
R1813:Dock4	UTSW	12	40,686,227 (GRCm39)	missense	probably damaging	1.00
R1846:Dock4	UTSW	12	40,783,267 (GRCm39)	missense	probably benign	0.00
R1959:Dock4	UTSW	12	40,760,797 (GRCm39)	missense	probably damaging	1.00
R1975:Dock4	UTSW	12	40,829,641 (GRCm39)	splice site	probably benign
R1986:Dock4	UTSW	12	40,780,062 (GRCm39)	missense	probably damaging	1.00
R2105:Dock4	UTSW	12	40,742,988 (GRCm39)	missense	probably benign	0.00
R2134:Dock4	UTSW	12	40,795,667 (GRCm39)	missense	probably benign
R2135:Dock4	UTSW	12	40,795,667 (GRCm39)	missense	probably benign
R2154:Dock4	UTSW	12	40,894,547 (GRCm39)	small insertion	probably benign
R2154:Dock4	UTSW	12	40,870,661 (GRCm39)	missense	probably damaging	1.00
R2864:Dock4	UTSW	12	40,780,072 (GRCm39)	missense	probably damaging	1.00
R2890:Dock4	UTSW	12	40,673,800 (GRCm39)	critical splice acceptor site	probably null
R3086:Dock4	UTSW	12	40,781,862 (GRCm39)	missense	probably benign	0.02
R3808:Dock4	UTSW	12	40,722,809 (GRCm39)	missense	probably damaging	0.99
R3811:Dock4	UTSW	12	40,829,123 (GRCm39)	missense	possibly damaging	0.87
R3836:Dock4	UTSW	12	40,844,623 (GRCm39)	critical splice donor site	probably null
R3838:Dock4	UTSW	12	40,844,623 (GRCm39)	critical splice donor site	probably null
R4091:Dock4	UTSW	12	40,894,266 (GRCm39)	missense	probably damaging	0.99
R4735:Dock4	UTSW	12	40,681,525 (GRCm39)	missense	probably benign	0.31
R4752:Dock4	UTSW	12	40,496,364 (GRCm39)	missense	probably benign	0.04
R4828:Dock4	UTSW	12	40,718,436 (GRCm39)	missense	probably damaging	1.00
R5039:Dock4	UTSW	12	40,867,745 (GRCm39)	missense	probably damaging	1.00
R5092:Dock4	UTSW	12	40,894,440 (GRCm39)	missense	probably benign
R5146:Dock4	UTSW	12	40,699,491 (GRCm39)	splice site	probably null
R5213:Dock4	UTSW	12	40,726,741 (GRCm39)	missense	probably damaging	1.00
R5214:Dock4	UTSW	12	40,754,465 (GRCm39)	missense	probably benign	0.00
R5270:Dock4	UTSW	12	40,783,270 (GRCm39)	missense	probably benign	0.02
R5426:Dock4	UTSW	12	40,795,744 (GRCm39)	missense	probably damaging	1.00
R5474:Dock4	UTSW	12	40,795,730 (GRCm39)	missense	probably benign
R5544:Dock4	UTSW	12	40,884,701 (GRCm39)	missense	possibly damaging	0.87
R5615:Dock4	UTSW	12	40,699,479 (GRCm39)	missense	probably benign	0.22
R5649:Dock4	UTSW	12	40,894,539 (GRCm39)	missense	probably benign	0.03
R5702:Dock4	UTSW	12	40,787,490 (GRCm39)	missense	probably benign	0.02
R5846:Dock4	UTSW	12	40,867,735 (GRCm39)	missense	probably damaging	1.00
R5847:Dock4	UTSW	12	40,671,250 (GRCm39)	missense	probably damaging	0.97
R5895:Dock4	UTSW	12	40,805,812 (GRCm39)	missense	probably damaging	1.00
R5997:Dock4	UTSW	12	40,805,833 (GRCm39)	missense	probably damaging	0.99
R6011:Dock4	UTSW	12	40,867,756 (GRCm39)	critical splice donor site	probably null
R6022:Dock4	UTSW	12	40,798,109 (GRCm39)	missense	probably benign	0.04
R6038:Dock4	UTSW	12	40,783,350 (GRCm39)	splice site	probably null
R6038:Dock4	UTSW	12	40,783,350 (GRCm39)	splice site	probably null
R6179:Dock4	UTSW	12	40,781,868 (GRCm39)	missense	probably benign	0.00
R6479:Dock4	UTSW	12	40,878,954 (GRCm39)	missense	probably damaging	1.00
R6516:Dock4	UTSW	12	40,781,898 (GRCm39)	missense	possibly damaging	0.94
R6748:Dock4	UTSW	12	40,754,465 (GRCm39)	missense	probably benign	0.44
R6752:Dock4	UTSW	12	40,870,616 (GRCm39)	missense	probably damaging	1.00
R6814:Dock4	UTSW	12	40,862,325 (GRCm39)	critical splice donor site	probably null
R6864:Dock4	UTSW	12	40,795,745 (GRCm39)	missense	probably damaging	1.00
R6872:Dock4	UTSW	12	40,862,325 (GRCm39)	critical splice donor site	probably null
R6891:Dock4	UTSW	12	40,829,135 (GRCm39)	missense	probably damaging	1.00
R6937:Dock4	UTSW	12	40,884,634 (GRCm39)	missense	probably benign	0.01
R6950:Dock4	UTSW	12	40,783,313 (GRCm39)	missense	possibly damaging	0.80
R7081:Dock4	UTSW	12	40,671,285 (GRCm39)	missense	probably damaging	1.00
R7129:Dock4	UTSW	12	40,878,878 (GRCm39)	missense	probably damaging	1.00
R7140:Dock4	UTSW	12	40,686,158 (GRCm39)	missense	probably benign	0.06
R7241:Dock4	UTSW	12	40,844,859 (GRCm39)	missense	probably damaging	1.00
R7378:Dock4	UTSW	12	40,838,243 (GRCm39)	missense	possibly damaging	0.94
R7714:Dock4	UTSW	12	40,775,648 (GRCm39)	nonsense	probably null
R7720:Dock4	UTSW	12	40,856,974 (GRCm39)	missense	probably damaging	0.99
R7756:Dock4	UTSW	12	40,760,878 (GRCm39)	missense	probably benign	0.02
R7758:Dock4	UTSW	12	40,760,878 (GRCm39)	missense	probably benign	0.02
R7759:Dock4	UTSW	12	40,867,735 (GRCm39)	missense	probably damaging	1.00
R7787:Dock4	UTSW	12	40,775,676 (GRCm39)	missense	probably benign
R7879:Dock4	UTSW	12	40,780,083 (GRCm39)	missense	possibly damaging	0.76
R7928:Dock4	UTSW	12	40,838,302 (GRCm39)	missense	probably damaging	0.98
R8000:Dock4	UTSW	12	40,883,118 (GRCm39)	missense	probably benign	0.05
R8042:Dock4	UTSW	12	40,795,759 (GRCm39)	missense	probably benign	0.01
R8231:Dock4	UTSW	12	40,752,950 (GRCm39)	missense	possibly damaging	0.88
R8234:Dock4	UTSW	12	40,884,837 (GRCm39)	splice site	probably null
R8758:Dock4	UTSW	12	40,838,231 (GRCm39)	missense	probably benign	0.12
R8871:Dock4	UTSW	12	40,795,730 (GRCm39)	missense	probably benign
R8873:Dock4	UTSW	12	40,726,767 (GRCm39)	nonsense	probably null
R8884:Dock4	UTSW	12	40,856,884 (GRCm39)	missense	probably damaging	1.00
R9164:Dock4	UTSW	12	40,754,337 (GRCm39)	missense	probably damaging	1.00
R9225:Dock4	UTSW	12	40,879,669 (GRCm39)	missense	probably benign	0.02
R9276:Dock4	UTSW	12	40,699,404 (GRCm39)	missense	possibly damaging	0.48
R9307:Dock4	UTSW	12	40,686,155 (GRCm39)	missense	probably damaging	1.00
R9675:Dock4	UTSW	12	40,894,393 (GRCm39)	small insertion	probably benign
R9675:Dock4	UTSW	12	40,894,379 (GRCm39)	small insertion	probably benign
R9676:Dock4	UTSW	12	40,894,397 (GRCm39)	small insertion	probably benign
R9676:Dock4	UTSW	12	40,894,387 (GRCm39)	small insertion	probably benign
R9676:Dock4	UTSW	12	40,894,379 (GRCm39)	small insertion	probably benign
R9676:Dock4	UTSW	12	40,894,401 (GRCm39)	small insertion	probably benign
R9678:Dock4	UTSW	12	40,894,396 (GRCm39)	small insertion	probably benign
R9678:Dock4	UTSW	12	40,894,387 (GRCm39)	small insertion	probably benign
R9678:Dock4	UTSW	12	40,894,379 (GRCm39)	small insertion	probably benign
R9691:Dock4	UTSW	12	40,686,097 (GRCm39)	missense	probably damaging	1.00
RF018:Dock4	UTSW	12	40,894,398 (GRCm39)	frame shift	probably null
RF025:Dock4	UTSW	12	40,894,392 (GRCm39)	frame shift	probably null
RF063:Dock4	UTSW	12	40,894,398 (GRCm39)	frame shift	probably null
X0028:Dock4	UTSW	12	40,719,046 (GRCm39)	missense	probably benign	0.25
Z1176:Dock4	UTSW	12	40,681,615 (GRCm39)	missense	probably benign	0.16
Z1176:Dock4	UTSW	12	40,681,613 (GRCm39)	missense	probably benign	0.01
Z1177:Dock4	UTSW	12	40,867,640 (GRCm39)	missense	possibly damaging	0.88

Predicted Primers

PCR Primer
(F):5'- CCTAATGTGACCAGTTCTGCTCCG -3'
(R):5'- GGATGAGTCAGATGGTGCTCCAAAC -3'

Sequencing Primer
(F):5'- TGGCCCATATTGTAGGCAGC -3'
(R):5'- TGCTCCAAACAATGGGCAG -3'

Posted On

2014-05-14