Mutagenetix > Incidental Mutation

Incidental Mutation 'R5146:Dock4'

395123

Institutional Source

Beutler Lab

Gene Symbol

Dock4

Ensembl Gene

ENSMUSG00000035954

Gene Name

dedicator of cytokinesis 4

Synonyms

6330411N01Rik, EST N28122

MMRRC Submission

042730-MU

Accession Numbers

Essential gene?

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

Stock #

R5146 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

40495956-40896873 bp(+) (GRCm39)

Type of Mutation

splice site (3 bp from exon)

DNA Base Change (assembly)

A to G at 40699491 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000152420 (fasta)

Gene Model

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

AlphaFold

P59764

Predicted Effect

probably null
Transcript: ENSMUST00000037488

SMART Domains

Protein: ENSMUSP00000047387
Gene: ENSMUSG00000035954

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 null
Transcript: ENSMUST00000220912

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000221758

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000222287

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.5%

Validation Efficiency

97% (35/36)

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: 31 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700049A03Rik	A	G	12: 71,289,799 (GRCm39)	D1498G	possibly damaging	Het
Adcyap1r1	A	G	6: 55,461,957 (GRCm39)	I329V	probably benign	Het
Ahnak2	A	C	12: 112,742,160 (GRCm39)	H637Q	probably benign	Het
Carmil3	A	G	14: 55,734,636 (GRCm39)	D455G	probably benign	Het
Cdh20	A	G	1: 109,922,042 (GRCm39)	T45A	probably damaging	Het
Chil4	T	A	3: 106,110,150 (GRCm39)	T315S	probably benign	Het
Cntnap5c	T	C	17: 58,320,842 (GRCm39)	V138A	probably damaging	Het
Csmd1	T	C	8: 16,246,204 (GRCm39)	D1065G	probably damaging	Het
Cspp1	C	T	1: 10,145,101 (GRCm39)	R296*	probably null	Het
Dnah17	A	G	11: 118,005,005 (GRCm39)	M793T	probably damaging	Het
Fgfr4	G	T	13: 55,313,725 (GRCm39)	L511F	probably damaging	Het
Gm14415	T	C	2: 176,796,024 (GRCm39)		noncoding transcript	Het
Gpam	A	G	19: 55,082,378 (GRCm39)	V91A	probably damaging	Het
Grin2b	T	A	6: 135,756,340 (GRCm39)	I462F	probably damaging	Het
Grwd1	A	T	7: 45,477,258 (GRCm39)	F210I	probably damaging	Het
H2-T9	A	G	17: 36,439,907 (GRCm39)	W76R	probably damaging	Het
Itfg1	T	C	8: 86,445,497 (GRCm39)	*611W	probably null	Het
Kcna2	T	C	3: 107,012,814 (GRCm39)	V465A	probably benign	Het
Mfng	C	T	15: 78,648,588 (GRCm39)	R163H	probably benign	Het
Myo15b	A	G	11: 115,782,024 (GRCm39)	T1444A	probably benign	Het
Nlgn3	G	A	X: 100,361,891 (GRCm39)	V287I	probably benign	Het
Oas1c	A	G	5: 120,940,159 (GRCm39)	S336P	probably benign	Het
Pirb	T	C	7: 3,715,620 (GRCm39)		probably benign	Het
Pot1b	A	T	17: 55,979,865 (GRCm39)	Y330*	probably null	Het
Rnf20	A	T	4: 49,651,456 (GRCm39)	M641L	probably benign	Het
Sppl2b	T	C	10: 80,703,474 (GRCm39)	*579Q	probably null	Het
Sumf1	G	A	6: 108,162,271 (GRCm39)	P83S	probably benign	Het
Tmem101	C	T	11: 102,045,450 (GRCm39)	R133Q	probably benign	Het
Ttn	G	A	2: 76,700,707 (GRCm39)		probably benign	Het
Vmn2r84	A	G	10: 130,221,971 (GRCm39)	Y750H	probably damaging	Het
Zfp873	A	G	10: 81,896,058 (GRCm39)	Y300C	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
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'- CACTGCAAGGCATTGTCCATG -3'
(R):5'- CCGAGGCCACAAAGGATTCTATAG -3'

Sequencing Primer
(F):5'- TTTTCTCATGGGGTGGGTATCATTC -3'
(R):5'- ACATCTGGAGGGTAGGTA -3'

Posted On

2016-06-21