Mutagenetix > Incidental Mutation

Incidental Mutation 'R8234:Dock4'

656579

Institutional Source

Beutler Lab

Gene Symbol

Dock4

Ensembl Gene

ENSMUSG00000035954

Gene Name

dedicator of cytokinesis 4

Synonyms

EST N28122, 6330411N01Rik

MMRRC Submission

067666-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.176) question?

Stock #

R8234 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

40445952-40846874 bp(+) (GRCm38)

Type of Mutation

splice site (108 bp from exon)

DNA Base Change (assembly)

C to T at 40834838 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000047387 (fasta)

Gene Model

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

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

Coding Region Coverage

1x: 99.9%
3x: 99.8%
10x: 99.5%
20x: 98.8%

Validation Efficiency

100% (49/49)

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: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310035C23Rik	T	C	1: 105,753,510 (GRCm38)	S1180P	possibly damaging	Het
Abhd4	T	A	14: 54,261,676 (GRCm38)	M38K	probably benign	Het
Ackr1	T	A	1: 173,332,015 (GRCm38)	R312S	probably benign	Het
Akap9	T	C	5: 4,044,845 (GRCm38)	V2213A	probably benign	Het
Alox5	T	A	6: 116,413,874 (GRCm38)	R439W	probably damaging	Het
Atrn	A	T	2: 131,023,000 (GRCm38)		probably null	Het
Casd1	A	G	6: 4,601,209 (GRCm38)	N14S	probably damaging	Het
Cry2	T	C	2: 92,412,629 (GRCm38)	S542G	probably benign	Het
Cyb5rl	A	G	4: 107,068,738 (GRCm38)	Y39C	probably damaging	Het
Dmpk	A	T	7: 19,088,123 (GRCm38)	K335N	probably benign	Het
Dnaic1	A	G	4: 41,625,221 (GRCm38)	D395G	probably benign	Het
Fmo4	T	C	1: 162,805,188 (GRCm38)	D198G	probably damaging	Het
Foxc2	G	A	8: 121,118,038 (GRCm38)	R475Q	probably damaging	Het
Gipr	C	A	7: 19,164,608 (GRCm38)	G37V	unknown	Het
Gm2046	A	T	12: 87,973,738 (GRCm38)	I71L	noncoding transcript	Het
Gpat3	T	C	5: 100,857,210 (GRCm38)		probably null	Het
Hcn4	A	G	9: 58,844,150 (GRCm38)	D353G	unknown	Het
Hectd4	T	A	5: 121,339,544 (GRCm38)	N2843K	possibly damaging	Het
Hmcn1	C	T	1: 150,594,010 (GRCm38)	V4973M	possibly damaging	Het
Il20rb	C	T	9: 100,459,210 (GRCm38)	S281N	probably benign	Het
Kcnh4	A	T	11: 100,752,267 (GRCm38)	N391K	possibly damaging	Het
Kitl	A	G	10: 100,051,846 (GRCm38)	T6A	probably damaging	Het
Krt36	A	G	11: 100,104,201 (GRCm38)	Y182H	probably damaging	Het
Lrp1b	T	G	2: 41,312,656 (GRCm38)	I1262L		Het
Mtf1	A	G	4: 124,844,246 (GRCm38)	E644G	probably benign	Het
Mtx2	A	G	2: 74,869,362 (GRCm38)	Y159C	probably damaging	Het
Nags	C	T	11: 102,148,998 (GRCm38)	S504F	probably damaging	Het
Ncam1	A	T	9: 49,545,223 (GRCm38)	F475L	probably damaging	Het
Nipal2	G	T	15: 34,600,032 (GRCm38)	T213N	possibly damaging	Het
Olfr1098	A	G	2: 86,922,969 (GRCm38)	S188P	probably damaging	Het
Olfr554	T	A	7: 102,640,471 (GRCm38)	L75Q	probably damaging	Het
Pkm	T	C	9: 59,670,599 (GRCm38)	V233A	possibly damaging	Het
Pros1	T	A	16: 62,928,177 (GRCm38)	I671N	possibly damaging	Het
Rasd1	T	C	11: 59,964,292 (GRCm38)	I121V	probably damaging	Het
Samhd1	A	G	2: 157,116,350 (GRCm38)		probably null	Het
Serpinb9f	A	T	13: 33,325,915 (GRCm38)	Y30F	probably benign	Het
Slc5a10	T	C	11: 61,673,281 (GRCm38)	I543V	probably benign	Het
Stat5a	A	G	11: 100,879,303 (GRCm38)	I469V	possibly damaging	Het
Sugct	T	C	13: 16,857,874 (GRCm38)	E431G	probably benign	Het
Tecr	C	A	8: 83,573,251 (GRCm38)	R133L	possibly damaging	Het
Tiparp	A	G	3: 65,531,581 (GRCm38)	N106S	probably benign	Het
Triml1	T	C	8: 43,141,248 (GRCm38)	S49G	probably benign	Het
Trpm3	T	A	19: 22,715,276 (GRCm38)	S244T	possibly damaging	Het
Ttn	T	C	2: 76,722,980 (GRCm38)	D31055G	probably damaging	Het
Vcp	A	T	4: 42,985,242 (GRCm38)	I369N	probably damaging	Het
Vmn2r110	A	C	17: 20,584,429 (GRCm38)	N76K	probably benign	Het
Vmn2r12	T	C	5: 109,086,208 (GRCm38)	T713A	probably benign	Het
Vmn2r17	A	T	5: 109,453,369 (GRCm38)	K844N	probably benign	Het

Other mutations in Dock4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00427:Dock4	APN	12	40,832,306 (GRCm38)	missense	possibly damaging	0.48
IGL00726:Dock4	APN	12	40,790,068 (GRCm38)	splice site	probably benign
IGL00790:Dock4	APN	12	40,834,391 (GRCm38)	missense	probably damaging	1.00
IGL01061:Dock4	APN	12	40,702,969 (GRCm38)	missense	probably benign	0.01
IGL01083:Dock4	APN	12	40,788,381 (GRCm38)	splice site	probably benign
IGL01412:Dock4	APN	12	40,730,041 (GRCm38)	splice site	probably benign
IGL01583:Dock4	APN	12	40,810,467 (GRCm38)	nonsense	probably null
IGL01603:Dock4	APN	12	40,693,031 (GRCm38)	missense	probably damaging	1.00
IGL01766:Dock4	APN	12	40,446,379 (GRCm38)	nonsense	probably null
IGL02067:Dock4	APN	12	40,834,385 (GRCm38)	missense	probably damaging	1.00
IGL02302:Dock4	APN	12	40,725,777 (GRCm38)	missense	probably damaging	1.00
IGL02406:Dock4	APN	12	40,777,207 (GRCm38)	missense	probably benign	0.01
IGL02547:Dock4	APN	12	40,737,479 (GRCm38)	missense	probably benign
IGL02613:Dock4	APN	12	40,810,466 (GRCm38)	missense	probably damaging	1.00
IGL02643:Dock4	APN	12	40,668,430 (GRCm38)	missense	probably damaging	1.00
IGL02952:Dock4	APN	12	40,710,903 (GRCm38)	critical splice donor site	probably null
IGL02994:Dock4	APN	12	40,779,160 (GRCm38)	missense	probably damaging	0.99
IGL03096:Dock4	APN	12	40,748,001 (GRCm38)	missense	probably benign	0.00
IGL03144:Dock4	APN	12	40,692,907 (GRCm38)	splice site	probably benign
IGL03223:Dock4	APN	12	40,817,594 (GRCm38)	missense	probably damaging	1.00
IGL03296:Dock4	APN	12	40,733,257 (GRCm38)	missense	possibly damaging	0.84
IGL03349:Dock4	APN	12	40,733,310 (GRCm38)	missense	probably benign	0.42
IGL03353:Dock4	APN	12	40,817,758 (GRCm38)	splice site	probably null
BB005:Dock4	UTSW	12	40,788,303 (GRCm38)	missense	probably damaging	0.98
BB015:Dock4	UTSW	12	40,788,303 (GRCm38)	missense	probably damaging	0.98
R0046:Dock4	UTSW	12	40,737,360 (GRCm38)	splice site	probably benign
R0046:Dock4	UTSW	12	40,737,360 (GRCm38)	splice site	probably benign
R0110:Dock4	UTSW	12	40,621,312 (GRCm38)	splice site	probably benign
R0238:Dock4	UTSW	12	40,737,540 (GRCm38)	missense	probably damaging	0.98
R0238:Dock4	UTSW	12	40,737,540 (GRCm38)	missense	probably damaging	0.98
R0239:Dock4	UTSW	12	40,737,540 (GRCm38)	missense	probably damaging	0.98
R0239:Dock4	UTSW	12	40,737,540 (GRCm38)	missense	probably damaging	0.98
R0472:Dock4	UTSW	12	40,838,438 (GRCm38)	intron	probably benign
R0616:Dock4	UTSW	12	40,704,415 (GRCm38)	missense	probably benign	0.31
R0647:Dock4	UTSW	12	40,710,884 (GRCm38)	missense	probably damaging	1.00
R0706:Dock4	UTSW	12	40,702,923 (GRCm38)	missense	probably damaging	0.98
R0791:Dock4	UTSW	12	40,704,481 (GRCm38)	missense	probably damaging	1.00
R0940:Dock4	UTSW	12	40,631,627 (GRCm38)	splice site	probably benign
R1087:Dock4	UTSW	12	40,729,938 (GRCm38)	missense	probably benign	0.40
R1180:Dock4	UTSW	12	40,640,414 (GRCm38)	missense	possibly damaging	0.52
R1194:Dock4	UTSW	12	40,829,616 (GRCm38)	missense	probably damaging	1.00
R1463:Dock4	UTSW	12	40,816,325 (GRCm38)	frame shift	probably null
R1468:Dock4	UTSW	12	40,755,810 (GRCm38)	missense	probably benign	0.00
R1468:Dock4	UTSW	12	40,755,810 (GRCm38)	missense	probably benign	0.00
R1523:Dock4	UTSW	12	40,693,025 (GRCm38)	missense	possibly damaging	0.88
R1616:Dock4	UTSW	12	40,669,045 (GRCm38)	missense	probably damaging	0.99
R1682:Dock4	UTSW	12	40,725,780 (GRCm38)	missense	probably damaging	1.00
R1691:Dock4	UTSW	12	40,725,755 (GRCm38)	missense	probably benign	0.26
R1693:Dock4	UTSW	12	40,834,722 (GRCm38)	missense	probably benign	0.07
R1737:Dock4	UTSW	12	40,807,001 (GRCm38)	splice site	probably null
R1802:Dock4	UTSW	12	40,794,598 (GRCm38)	missense	possibly damaging	0.90
R1813:Dock4	UTSW	12	40,636,228 (GRCm38)	missense	probably damaging	1.00
R1846:Dock4	UTSW	12	40,733,268 (GRCm38)	missense	probably benign	0.00
R1959:Dock4	UTSW	12	40,710,798 (GRCm38)	missense	probably damaging	1.00
R1975:Dock4	UTSW	12	40,779,642 (GRCm38)	splice site	probably benign
R1986:Dock4	UTSW	12	40,730,063 (GRCm38)	missense	probably damaging	1.00
R2105:Dock4	UTSW	12	40,692,989 (GRCm38)	missense	probably benign	0.00
R2134:Dock4	UTSW	12	40,745,668 (GRCm38)	missense	probably benign
R2135:Dock4	UTSW	12	40,745,668 (GRCm38)	missense	probably benign
R2154:Dock4	UTSW	12	40,844,548 (GRCm38)	small insertion	probably benign
R2154:Dock4	UTSW	12	40,820,662 (GRCm38)	missense	probably damaging	1.00
R2864:Dock4	UTSW	12	40,730,073 (GRCm38)	missense	probably damaging	1.00
R2890:Dock4	UTSW	12	40,623,801 (GRCm38)	critical splice acceptor site	probably null
R3086:Dock4	UTSW	12	40,731,863 (GRCm38)	missense	probably benign	0.02
R3808:Dock4	UTSW	12	40,672,810 (GRCm38)	missense	probably damaging	0.99
R3811:Dock4	UTSW	12	40,779,124 (GRCm38)	missense	possibly damaging	0.87
R3836:Dock4	UTSW	12	40,794,624 (GRCm38)	critical splice donor site	probably null
R3838:Dock4	UTSW	12	40,794,624 (GRCm38)	critical splice donor site	probably null
R4091:Dock4	UTSW	12	40,844,267 (GRCm38)	missense	probably damaging	0.99
R4735:Dock4	UTSW	12	40,631,526 (GRCm38)	missense	probably benign	0.31
R4752:Dock4	UTSW	12	40,446,365 (GRCm38)	missense	probably benign	0.04
R4828:Dock4	UTSW	12	40,668,437 (GRCm38)	missense	probably damaging	1.00
R5039:Dock4	UTSW	12	40,817,746 (GRCm38)	missense	probably damaging	1.00
R5092:Dock4	UTSW	12	40,844,441 (GRCm38)	missense	probably benign
R5146:Dock4	UTSW	12	40,649,492 (GRCm38)	splice site	probably null
R5213:Dock4	UTSW	12	40,676,742 (GRCm38)	missense	probably damaging	1.00
R5214:Dock4	UTSW	12	40,704,466 (GRCm38)	missense	probably benign	0.00
R5270:Dock4	UTSW	12	40,733,271 (GRCm38)	missense	probably benign	0.02
R5426:Dock4	UTSW	12	40,745,745 (GRCm38)	missense	probably damaging	1.00
R5474:Dock4	UTSW	12	40,745,731 (GRCm38)	missense	probably benign
R5544:Dock4	UTSW	12	40,834,702 (GRCm38)	missense	possibly damaging	0.87
R5615:Dock4	UTSW	12	40,649,480 (GRCm38)	missense	probably benign	0.22
R5649:Dock4	UTSW	12	40,844,540 (GRCm38)	missense	probably benign	0.03
R5702:Dock4	UTSW	12	40,737,491 (GRCm38)	missense	probably benign	0.02
R5846:Dock4	UTSW	12	40,817,736 (GRCm38)	missense	probably damaging	1.00
R5847:Dock4	UTSW	12	40,621,251 (GRCm38)	missense	probably damaging	0.97
R5895:Dock4	UTSW	12	40,755,813 (GRCm38)	missense	probably damaging	1.00
R5997:Dock4	UTSW	12	40,755,834 (GRCm38)	missense	probably damaging	0.99
R6011:Dock4	UTSW	12	40,817,757 (GRCm38)	critical splice donor site	probably null
R6022:Dock4	UTSW	12	40,748,110 (GRCm38)	missense	probably benign	0.04
R6038:Dock4	UTSW	12	40,733,351 (GRCm38)	splice site	probably null
R6038:Dock4	UTSW	12	40,733,351 (GRCm38)	splice site	probably null
R6179:Dock4	UTSW	12	40,731,869 (GRCm38)	missense	probably benign	0.00
R6479:Dock4	UTSW	12	40,828,955 (GRCm38)	missense	probably damaging	1.00
R6516:Dock4	UTSW	12	40,731,899 (GRCm38)	missense	possibly damaging	0.94
R6748:Dock4	UTSW	12	40,704,466 (GRCm38)	missense	probably benign	0.44
R6752:Dock4	UTSW	12	40,820,617 (GRCm38)	missense	probably damaging	1.00
R6814:Dock4	UTSW	12	40,812,326 (GRCm38)	critical splice donor site	probably null
R6864:Dock4	UTSW	12	40,745,746 (GRCm38)	missense	probably damaging	1.00
R6872:Dock4	UTSW	12	40,812,326 (GRCm38)	critical splice donor site	probably null
R6891:Dock4	UTSW	12	40,779,136 (GRCm38)	missense	probably damaging	1.00
R6937:Dock4	UTSW	12	40,834,635 (GRCm38)	missense	probably benign	0.01
R6950:Dock4	UTSW	12	40,733,314 (GRCm38)	missense	possibly damaging	0.80
R7081:Dock4	UTSW	12	40,621,286 (GRCm38)	missense	probably damaging	1.00
R7129:Dock4	UTSW	12	40,828,879 (GRCm38)	missense	probably damaging	1.00
R7140:Dock4	UTSW	12	40,636,159 (GRCm38)	missense	probably benign	0.06
R7241:Dock4	UTSW	12	40,794,860 (GRCm38)	missense	probably damaging	1.00
R7378:Dock4	UTSW	12	40,788,244 (GRCm38)	missense	possibly damaging	0.94
R7714:Dock4	UTSW	12	40,725,649 (GRCm38)	nonsense	probably null
R7720:Dock4	UTSW	12	40,806,975 (GRCm38)	missense	probably damaging	0.99
R7756:Dock4	UTSW	12	40,710,879 (GRCm38)	missense	probably benign	0.02
R7758:Dock4	UTSW	12	40,710,879 (GRCm38)	missense	probably benign	0.02
R7759:Dock4	UTSW	12	40,817,736 (GRCm38)	missense	probably damaging	1.00
R7787:Dock4	UTSW	12	40,725,677 (GRCm38)	missense	probably benign
R7879:Dock4	UTSW	12	40,730,084 (GRCm38)	missense	possibly damaging	0.76
R7928:Dock4	UTSW	12	40,788,303 (GRCm38)	missense	probably damaging	0.98
R8000:Dock4	UTSW	12	40,833,119 (GRCm38)	missense	probably benign	0.05
R8042:Dock4	UTSW	12	40,745,760 (GRCm38)	missense	probably benign	0.01
R8231:Dock4	UTSW	12	40,702,951 (GRCm38)	missense	possibly damaging	0.88
R8758:Dock4	UTSW	12	40,788,232 (GRCm38)	missense	probably benign	0.12
R8871:Dock4	UTSW	12	40,745,731 (GRCm38)	missense	probably benign
R8873:Dock4	UTSW	12	40,676,768 (GRCm38)	nonsense	probably null
R8884:Dock4	UTSW	12	40,806,885 (GRCm38)	missense	probably damaging	1.00
R9164:Dock4	UTSW	12	40,704,338 (GRCm38)	missense	probably damaging	1.00
R9225:Dock4	UTSW	12	40,829,670 (GRCm38)	missense	probably benign	0.02
R9276:Dock4	UTSW	12	40,649,405 (GRCm38)	missense	possibly damaging	0.48
R9307:Dock4	UTSW	12	40,636,156 (GRCm38)	missense	probably damaging	1.00
R9675:Dock4	UTSW	12	40,844,394 (GRCm38)	small insertion	probably benign
R9675:Dock4	UTSW	12	40,844,380 (GRCm38)	small insertion	probably benign
R9676:Dock4	UTSW	12	40,844,398 (GRCm38)	small insertion	probably benign
R9676:Dock4	UTSW	12	40,844,388 (GRCm38)	small insertion	probably benign
R9676:Dock4	UTSW	12	40,844,380 (GRCm38)	small insertion	probably benign
R9676:Dock4	UTSW	12	40,844,402 (GRCm38)	small insertion	probably benign
R9678:Dock4	UTSW	12	40,844,397 (GRCm38)	small insertion	probably benign
R9678:Dock4	UTSW	12	40,844,388 (GRCm38)	small insertion	probably benign
R9678:Dock4	UTSW	12	40,844,380 (GRCm38)	small insertion	probably benign
R9691:Dock4	UTSW	12	40,636,098 (GRCm38)	missense	probably damaging	1.00
RF018:Dock4	UTSW	12	40,844,399 (GRCm38)	frame shift	probably null
RF025:Dock4	UTSW	12	40,844,393 (GRCm38)	frame shift	probably null
RF063:Dock4	UTSW	12	40,844,399 (GRCm38)	frame shift	probably null
X0028:Dock4	UTSW	12	40,669,047 (GRCm38)	missense	probably benign	0.25
Z1176:Dock4	UTSW	12	40,631,616 (GRCm38)	missense	probably benign	0.16
Z1176:Dock4	UTSW	12	40,631,614 (GRCm38)	missense	probably benign	0.01
Z1177:Dock4	UTSW	12	40,817,641 (GRCm38)	missense	possibly damaging	0.88

Predicted Primers

PCR Primer
(F):5'- AAAACTCTTGCCTGTCCCCAAG -3'
(R):5'- AGGGCTGTGACCCAGATATC -3'

Sequencing Primer
(F):5'- TTGCCTGTCCCCAAGAGATAG -3'
(R):5'- AGATATCCTACTCAACCTGTGGG -3'

Posted On

2020-12-30