Mutagenetix > Incidental Mutation

Incidental Mutation 'R6516:Dock4'

520735

Institutional Source

Beutler Lab

Gene Symbol

Dock4

Ensembl Gene

ENSMUSG00000035954

Gene Name

dedicator of cytokinesis 4

Synonyms

6330411N01Rik, EST N28122

MMRRC Submission

044643-MU

Accession Numbers

Essential gene?

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

Stock #

R6516 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

40495956-40896873 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 40781898 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 701 (V701E)

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: V701E

PolyPhen 2 Score 0.105 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000047387
Gene: ENSMUSG00000035954
AA Change: V701E

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: V701E

PolyPhen 2 Score 0.945 (Sensitivity: 0.80; Specificity: 0.95)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000221758

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000222287

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.6%
20x: 92.6%

Validation Efficiency

100% (63/63)

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930558K02Rik	A	T	1: 161,780,235 (GRCm39)	V93E	probably benign	Het
Adam18	A	G	8: 25,164,703 (GRCm39)	L4P	probably damaging	Het
Adcy8	A	T	15: 64,571,236 (GRCm39)	Y1136N	probably damaging	Het
Adgrl3	A	G	5: 81,613,119 (GRCm39)	Y184C	probably damaging	Het
Ankrd6	G	A	4: 32,836,427 (GRCm39)	R43W	probably damaging	Het
Ano8	G	T	8: 71,934,424 (GRCm39)		probably null	Het
Arhgap31	A	G	16: 38,429,766 (GRCm39)	F370L	possibly damaging	Het
C7	A	G	15: 5,086,563 (GRCm39)	V26A	probably damaging	Het
Cimap1a	G	A	7: 140,428,718 (GRCm39)	G128S	probably damaging	Het
Clec4a2	C	A	6: 123,116,365 (GRCm39)	Q153K	probably damaging	Het
Cyp2c67	T	A	19: 39,605,873 (GRCm39)	D341V	probably damaging	Het
Ddo	T	A	10: 40,507,741 (GRCm39)	V46E	probably damaging	Het
Deup1	A	C	9: 15,521,910 (GRCm39)	M85R	probably damaging	Het
Dmxl2	A	T	9: 54,323,960 (GRCm39)	S1141R	probably damaging	Het
Dnah2	A	G	11: 69,356,212 (GRCm39)	F2147L	probably benign	Het
Dock10	T	C	1: 80,518,178 (GRCm39)	E1298G	probably damaging	Het
Dthd1	A	T	5: 62,996,607 (GRCm39)	K447N	probably benign	Het
Eno2	G	T	6: 124,738,672 (GRCm39)		probably null	Het
Fastkd5	T	A	2: 130,456,221 (GRCm39)	T790S	possibly damaging	Het
Fer1l4	C	T	2: 155,877,119 (GRCm39)	V1139M	probably damaging	Het
Gpbp1	A	T	13: 111,589,636 (GRCm39)	H111Q	probably benign	Het
Grk3	A	T	5: 113,109,415 (GRCm39)		probably benign	Het
Itpr3	C	T	17: 27,310,344 (GRCm39)	A403V	probably benign	Het
Kcnc2	A	G	10: 112,297,905 (GRCm39)	T610A	probably benign	Het
Kcnh1	T	A	1: 192,101,089 (GRCm39)	D560E	possibly damaging	Het
Klc4	A	T	17: 46,953,181 (GRCm39)	N116K	probably damaging	Het
Krba1	C	T	6: 48,390,206 (GRCm39)	Q656*	probably null	Het
Mchr1	A	G	15: 81,122,069 (GRCm39)	Y273C	probably damaging	Het
Myh15	T	A	16: 48,957,996 (GRCm39)	C938S	probably benign	Het
Nutm1	T	C	2: 112,081,562 (GRCm39)	E367G	probably damaging	Het
Or10a3n	A	T	7: 108,492,972 (GRCm39)	I214K	probably damaging	Het
Or4e2	A	T	14: 52,688,586 (GRCm39)	T239S	probably damaging	Het
Or5w18	A	T	2: 87,633,114 (GRCm39)	Y127F	possibly damaging	Het
Or8b48	A	G	9: 38,492,768 (GRCm39)	N65S	probably damaging	Het
Pikfyve	G	T	1: 65,304,940 (GRCm39)	M1697I	probably benign	Het
Plcd1	A	G	9: 118,905,271 (GRCm39)	S147P	probably damaging	Het
Plin3	G	A	17: 56,593,223 (GRCm39)	P113L	probably damaging	Het
Pum3	C	A	19: 27,403,408 (GRCm39)	S31I	probably benign	Het
Robo1	T	C	16: 72,821,241 (GRCm39)	V1327A	probably benign	Het
Rpl15-ps6	A	G	15: 52,341,200 (GRCm39)		noncoding transcript	Het
Rpl34	G	A	3: 130,522,716 (GRCm39)	P50L	probably benign	Het
Scnn1b	T	C	7: 121,511,335 (GRCm39)	S341P	probably damaging	Het
Sh3bp5	A	T	14: 31,097,629 (GRCm39)	M362K	possibly damaging	Het
Slc24a5	A	G	2: 124,930,027 (GRCm39)	T443A	probably benign	Het
Slc25a12	T	C	2: 71,154,427 (GRCm39)	Y81C	probably damaging	Het
Slc43a3	A	G	2: 84,788,105 (GRCm39)	T496A	probably benign	Het
Smap2	C	T	4: 120,840,303 (GRCm39)		probably null	Het
Sptbn5	T	A	2: 119,878,431 (GRCm39)		probably benign	Het
Taar5	A	G	10: 23,847,564 (GRCm39)	S321G	possibly damaging	Het
Tbx21	T	C	11: 96,990,782 (GRCm39)	I299V	possibly damaging	Het
Tcerg1	T	C	18: 42,663,957 (GRCm39)		probably null	Het
Tenm3	G	C	8: 48,870,257 (GRCm39)	Q179E	probably benign	Het
Tmem176a	T	G	6: 48,821,002 (GRCm39)		probably null	Het
Tmem236	T	C	2: 14,200,791 (GRCm39)	S119P	probably benign	Het
Tmprss11a	C	T	5: 86,567,987 (GRCm39)	V247M	probably damaging	Het
Tnks1bp1	T	C	2: 84,901,071 (GRCm39)	S1593P	probably damaging	Het
Ttc9b	T	A	7: 27,355,412 (GRCm39)	D227E	probably benign	Het
Usp33	A	C	3: 152,079,053 (GRCm39)	Q435P	probably benign	Het
Vti1a	C	T	19: 55,369,390 (GRCm39)	A94V	probably damaging	Het
Wdr3	A	G	3: 100,052,992 (GRCm39)	Y587H	probably damaging	Het
Wwc1	G	A	11: 35,758,129 (GRCm39)	A739V	probably benign	Het
Zfp628	C	G	7: 4,923,201 (GRCm39)	Y474*	probably null	Het
Zfp820	A	T	17: 22,038,354 (GRCm39)	C325S	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
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'- TTCTAGAGCAACCTGGCAGG -3'
(R):5'- AAGTCCCTTTCAAGTTTCATCAGC -3'

Sequencing Primer
(F):5'- TGAGACCTTACAGAGAAAGACTAGTC -3'
(R):5'- TCAAGTTTCATCAGCTCTGGAG -3'

Posted On

2018-06-06