Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00790:Dock4'

10273

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Dock4

Ensembl Gene

ENSMUSG00000035954

Gene Name

dedicator of cytokinesis 4

Synonyms

6330411N01Rik, EST N28122

Accession Numbers

Essential gene?

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

Stock #

IGL00790

Quality Score

Status

Chromosome

Chromosomal Location

40495956-40896873 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 40884390 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 1686 (S1686P)

Ref Sequence

ENSEMBL: ENSMUSP00000152420 (fasta)

Gene Model

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

AlphaFold

P59764

Predicted Effect

probably damaging
Transcript: ENSMUST00000037488
AA Change: S1686P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000047387
Gene: ENSMUSG00000035954
AA Change: S1686P

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 damaging
Transcript: ENSMUST00000220912
AA Change: S1686P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Coding Region Coverage

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: 29 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ankrd12	A	T	17: 66,291,175 (GRCm39)	N1419K	probably benign	Het
Arhgef18	A	G	8: 3,479,553 (GRCm39)	E79G	probably damaging	Het
Art4	T	A	6: 136,831,493 (GRCm39)	Q216L	probably damaging	Het
Bbs4	T	C	9: 59,231,348 (GRCm39)	D407G	probably benign	Het
Cherp	A	G	8: 73,222,090 (GRCm39)	I277T	probably damaging	Het
Cnot2	A	G	10: 116,342,976 (GRCm39)	M119T	probably benign	Het
Disp2	T	A	2: 118,616,759 (GRCm39)	C73S	probably damaging	Het
Dsc1	C	T	18: 20,227,953 (GRCm39)	G468S	probably damaging	Het
Duox2	T	A	2: 122,122,781 (GRCm39)	D551V	possibly damaging	Het
Gmip	T	A	8: 70,269,661 (GRCm39)	Y585*	probably null	Het
Gnal	A	G	18: 67,267,360 (GRCm39)		probably null	Het
Idh1	T	G	1: 65,205,281 (GRCm39)	Q228P	possibly damaging	Het
Igsf10	A	T	3: 59,226,938 (GRCm39)	I2245N	probably damaging	Het
Mrgpra4	A	T	7: 47,631,052 (GRCm39)	M183K	possibly damaging	Het
Npr2	T	A	4: 43,641,612 (GRCm39)	V472D	possibly damaging	Het
Pcdh7	A	T	5: 57,878,806 (GRCm39)	N787I	probably damaging	Het
Phf8-ps	A	G	17: 33,286,361 (GRCm39)	V147A	probably damaging	Het
Ppp1r10	A	T	17: 36,235,751 (GRCm39)	N111I	probably damaging	Het
Ppp3ca	A	G	3: 136,640,942 (GRCm39)	N508D	probably benign	Het
Rgs17	A	G	10: 5,862,624 (GRCm38)	Q25P	possibly damaging	Het
Slco6d1	T	A	1: 98,348,925 (GRCm39)		probably benign	Het
Tab3	T	A	X: 84,665,210 (GRCm39)	N591K	probably damaging	Het
Tfcp2	T	C	15: 100,411,059 (GRCm39)		probably benign	Het
Them5	A	T	3: 94,250,716 (GRCm39)	D93V	probably damaging	Het
Thoc5	T	G	11: 4,868,147 (GRCm39)	V275G	probably damaging	Het
Trmt1l	T	C	1: 151,318,463 (GRCm39)		probably null	Het
Zdbf2	G	T	1: 63,345,673 (GRCm39)	V1351F	possibly damaging	Het
Zfp14	G	T	7: 29,738,312 (GRCm39)	Y224*	probably null	Het
Zfp606	T	G	7: 12,228,159 (GRCm39)	M702R	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
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
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

Posted On

2012-12-06