Mutagenetix > Incidental Mutation

Incidental Mutation 'R7879:Dock4'

608658

Institutional Source

Beutler Lab

Gene Symbol

Dock4

Ensembl Gene

ENSMUSG00000035954

Gene Name

dedicator of cytokinesis 4

Synonyms

6330411N01Rik, EST N28122

MMRRC Submission

045931-MU

Accession Numbers

Essential gene?

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

Stock #

R7879 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

40495956-40896873 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 40780083 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 628 (D628V)

Ref Sequence

ENSEMBL: ENSMUSP00000047387 (fasta)

Gene Model

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

AlphaFold

P59764

Predicted Effect

possibly damaging
Transcript: ENSMUST00000037488
AA Change: D628V

PolyPhen 2 Score 0.757 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000047387
Gene: ENSMUSG00000035954
AA Change: D628V

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

possibly damaging
Transcript: ENSMUST00000220912
AA Change: D628V

PolyPhen 2 Score 0.720 (Sensitivity: 0.86; Specificity: 0.92)

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930449I24Rik	T	C	5: 146,439,662 (GRCm39)	I81T	probably benign	Het
Acnat2	G	A	4: 49,383,299 (GRCm39)	P85S	probably damaging	Het
Akr1c19	G	A	13: 4,286,223 (GRCm39)	V74M	probably damaging	Het
Alb	C	A	5: 90,620,507 (GRCm39)	T539K	probably benign	Het
B4galnt2	G	A	11: 95,760,223 (GRCm39)	T268I	possibly damaging	Het
Bcl7b	G	A	5: 135,205,986 (GRCm39)	E58K	possibly damaging	Het
Calr3	C	T	8: 73,178,487 (GRCm39)	S372N	unknown	Het
Cdcp3	T	A	7: 130,844,871 (GRCm39)	V588E	probably damaging	Het
Cdh20	A	T	1: 104,875,047 (GRCm39)		probably null	Het
Cdh20	A	C	1: 109,976,677 (GRCm39)	E114A	probably benign	Het
Cep70	A	G	9: 99,144,686 (GRCm39)	R74G	possibly damaging	Het
Chrna6	A	G	8: 27,897,109 (GRCm39)	F256S	probably damaging	Het
Cic	A	G	7: 24,984,551 (GRCm39)	T996A	probably benign	Het
Clstn2	A	G	9: 97,351,817 (GRCm39)	V536A	possibly damaging	Het
Csmd1	A	T	8: 16,441,820 (GRCm39)	M348K	probably benign	Het
Dnah11	A	C	12: 118,004,744 (GRCm39)	D2192E	probably damaging	Het
Dnhd1	A	G	7: 105,352,646 (GRCm39)	I2600V	probably benign	Het
Dock3	A	C	9: 106,785,700 (GRCm39)	S185A	probably benign	Het
Dzank1	A	T	2: 144,333,718 (GRCm39)	S371T	probably benign	Het
Fam83b	A	T	9: 76,399,737 (GRCm39)	N455K	possibly damaging	Het
Fcrlb	T	C	1: 170,736,365 (GRCm39)	Y137C	probably damaging	Het
Gtf2i	G	A	5: 134,295,471 (GRCm39)	T327M	possibly damaging	Het
Hspa5	T	A	2: 34,665,941 (GRCm39)	M595K	probably benign	Het
Htt	C	T	5: 34,981,252 (GRCm39)	A875V	probably benign	Het
Hvcn1	G	A	5: 122,376,701 (GRCm39)		probably null	Het
Igsf10	A	G	3: 59,238,145 (GRCm39)	S679P	probably damaging	Het
Itsn2	A	G	12: 4,751,265 (GRCm39)	H1285R	probably benign	Het
Kcnq4	T	C	4: 120,559,632 (GRCm39)	T523A	probably benign	Het
Kif6	T	A	17: 50,139,214 (GRCm39)	I562N	probably benign	Het
Klhl9	C	A	4: 88,638,575 (GRCm39)	W555C	probably damaging	Het
Krt78	T	C	15: 101,856,624 (GRCm39)	T423A	probably benign	Het
Mapk10	C	T	5: 103,111,362 (GRCm39)	V391I	probably benign	Het
Noa1	T	C	5: 77,445,044 (GRCm39)	M592V	probably benign	Het
Npy5r	A	G	8: 67,133,968 (GRCm39)	M275T	possibly damaging	Het
Nuak2	T	A	1: 132,259,695 (GRCm39)	V499E	probably benign	Het
Or4x6	A	T	2: 89,949,185 (GRCm39)	C252*	probably null	Het
Or6c213	T	C	10: 129,574,559 (GRCm39)	I76V	probably benign	Het
Otogl	T	C	10: 107,612,970 (GRCm39)	E2052G	probably benign	Het
Pard3b	T	A	1: 62,198,670 (GRCm39)	C253S	possibly damaging	Het
Pclo	T	C	5: 14,727,228 (GRCm39)	S2029P	unknown	Het
Plekhg3	A	G	12: 76,612,343 (GRCm39)	I401M	probably damaging	Het
Polg	A	T	7: 79,100,392 (GRCm39)	C1140S	probably benign	Het
Prl7c1	A	T	13: 27,962,817 (GRCm39)	L62H	probably damaging	Het
Psmf1	T	A	2: 151,576,163 (GRCm39)	E115V	probably benign	Het
Ptpn9	A	T	9: 56,964,010 (GRCm39)	N381I	possibly damaging	Het
Pzp	A	G	6: 128,465,979 (GRCm39)	S1234P	probably benign	Het
Qrich1	A	G	9: 108,436,485 (GRCm39)	T728A	possibly damaging	Het
Ralgps2	C	A	1: 156,656,636 (GRCm39)	A323S	probably benign	Het
Rimbp3	T	C	16: 17,028,910 (GRCm39)	V778A	possibly damaging	Het
Scn1a	A	T	2: 66,116,349 (GRCm39)	L430*	probably null	Het
Sema7a	A	T	9: 57,862,363 (GRCm39)	I189F	probably damaging	Het
Slc22a8	T	C	19: 8,571,386 (GRCm39)	I39T	probably benign	Het
Stap2	T	C	17: 56,309,023 (GRCm39)	T115A	probably benign	Het
Stmn4	A	G	14: 66,595,388 (GRCm39)	I138V	probably benign	Het
Suds3	C	T	5: 117,236,335 (GRCm39)		probably null	Het
Taf4	G	A	2: 179,573,822 (GRCm39)	T682M	probably damaging	Het
Tet1	A	C	10: 62,714,825 (GRCm39)	D323E	probably benign	Het
Tia1	A	G	6: 86,401,347 (GRCm39)	D140G	probably damaging	Het
Trio	C	T	15: 27,852,010 (GRCm39)	R827H	possibly damaging	Het
Ttn	A	G	2: 76,625,397 (GRCm39)		probably null	Het
Unc80	T	C	1: 66,549,866 (GRCm39)	V708A	probably benign	Het
Vmn1r194	A	T	13: 22,428,772 (GRCm39)	T130S	probably benign	Het
Wfikkn2	A	G	11: 94,129,755 (GRCm39)	C129R	probably damaging	Het
Zkscan5	A	C	5: 145,157,676 (GRCm39)	H726P	probably 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
R1693:Dock4	UTSW	12	40,884,721 (GRCm39)	missense	probably benign	0.07
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
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'- CCAGACAAGATCACAGGCTG -3'
(R):5'- CAGGCTTAAAATGATGGAACTTGC -3'

Sequencing Primer
(F):5'- AGATCACAGGCTGTCTCTCTAAG -3'
(R):5'- TTGAGTGTTACAGAACCCAGTGC -3'

Posted On

2019-12-20