Mutagenetix > Incidental Mutation

Incidental Mutation 'R1087:Dock4'

85081

Institutional Source

Beutler Lab

Gene Symbol

Dock4

Ensembl Gene

ENSMUSG00000035954

Gene Name

dedicator of cytokinesis 4

Synonyms

EST N28122, 6330411N01Rik

Accession Numbers

Essential gene?

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

Stock #

R1087 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

40445952-40846874 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 40729938 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Leucine at position 612 (I612L)

Ref Sequence

ENSEMBL: ENSMUSP00000047387 (fasta)

Gene Model

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

AlphaFold

P59764

Predicted Effect

probably benign
Transcript: ENSMUST00000037488
AA Change: I612L

PolyPhen 2 Score 0.395 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000047387
Gene: ENSMUSG00000035954
AA Change: I612L

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 benign
Transcript: ENSMUST00000220912
AA Change: I612L

PolyPhen 2 Score 0.288 (Sensitivity: 0.91; Specificity: 0.88)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000221758

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000222287

Coding Region Coverage

1x: 99.4%
3x: 98.8%
10x: 97.5%
20x: 95.3%

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: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700011I03Rik	T	C	18: 57,730,798 (GRCm38)	S225P	probably damaging	Het
Anxa11	A	G	14: 25,870,179 (GRCm38)	M56V	unknown	Het
Arid4a	G	A	12: 71,075,338 (GRCm38)	S509N	probably benign	Het
Atp8b3	T	C	10: 80,520,183 (GRCm38)	R1232G	probably benign	Het
Axdnd1	T	A	1: 156,365,689 (GRCm38)	M643L	probably benign	Het
Bsph1	A	G	7: 13,472,181 (GRCm38)	Y57C	probably damaging	Het
Car13	G	A	3: 14,641,825 (GRCm38)	W6*	probably null	Het
Ccng2	T	C	5: 93,273,444 (GRCm38)	I271T	probably benign	Het
Ces1f	T	A	8: 93,258,295 (GRCm38)	D468V	probably damaging	Het
Chil4	A	G	3: 106,210,565 (GRCm38)	Y130H	probably benign	Het
Clns1a	T	A	7: 97,705,655 (GRCm38)	H69Q	possibly damaging	Het
Cnot11	T	A	1: 39,540,058 (GRCm38)	S335T	probably benign	Het
Dcaf11	A	G	14: 55,569,124 (GRCm38)	S461G	probably damaging	Het
Dlst	G	A	12: 85,132,639 (GRCm38)	M417I	probably damaging	Het
Endod1	A	G	9: 14,357,193 (GRCm38)	V332A	possibly damaging	Het
F830045P16Rik	T	C	2: 129,472,719 (GRCm38)	T213A	possibly damaging	Het
Gm5773	A	T	3: 93,773,758 (GRCm38)	I246F	probably damaging	Het
Gml2	T	A	15: 74,824,097 (GRCm38)	D113E	possibly damaging	Het
Grik1	T	C	16: 88,006,377 (GRCm38)	E309G	probably benign	Het
Hectd1	A	T	12: 51,776,572 (GRCm38)	I1013K	probably damaging	Het
Kcmf1	T	C	6: 72,858,880 (GRCm38)	E22G	probably damaging	Het
Kdm5b	T	A	1: 134,600,637 (GRCm38)	C361S	probably damaging	Het
Kif21b	T	C	1: 136,162,823 (GRCm38)	S1150P	probably damaging	Het
Man2b1	G	A	8: 85,095,171 (GRCm38)	V701M	probably damaging	Het
March10	T	C	11: 105,390,662 (GRCm38)	R266G	probably damaging	Het
Milr1	A	G	11: 106,755,022 (GRCm38)	Y130C	probably damaging	Het
Nampt	A	G	12: 32,833,043 (GRCm38)	T76A	possibly damaging	Het
Nek10	A	G	14: 14,827,059 (GRCm38)	N86D	possibly damaging	Het
Nms	T	G	1: 38,944,111 (GRCm38)		probably null	Het
Olfr1490	T	A	19: 13,655,012 (GRCm38)	C194*	probably null	Het
Parp14	A	G	16: 35,858,288 (GRCm38)	S437P	probably damaging	Het
Pif1	A	G	9: 65,589,095 (GRCm38)	M226V	probably benign	Het
Rnf169	T	C	7: 99,942,997 (GRCm38)	R216G	probably benign	Het
Rorb	T	C	19: 18,960,414 (GRCm38)	K307R	probably damaging	Het
Scube2	T	C	7: 109,831,675 (GRCm38)	D439G	probably damaging	Het
Serpinb8	T	C	1: 107,606,997 (GRCm38)	V266A	probably damaging	Het
Strip2	A	G	6: 29,927,634 (GRCm38)	E226G	probably damaging	Het
Trim23	A	G	13: 104,188,110 (GRCm38)	D212G	possibly damaging	Het
Vmn1r172	T	A	7: 23,660,248 (GRCm38)	V186D	possibly damaging	Het
Vwde	A	T	6: 13,186,804 (GRCm38)	C895S	probably damaging	Het
Zswim8	C	A	14: 20,717,865 (GRCm38)		probably null	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
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
R8234:Dock4	UTSW	12	40,834,838 (GRCm38)	splice site	probably null
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'- TGGTAATCCCTCCTGGACAACACC -3'
(R):5'- GCCCCAGCAAAGTGACTCTCAATG -3'

Sequencing Primer
(F):5'- GCATGTAGGAAGTCAGCTTTTACC -3'
(R):5'- GGAGAGGCACACTTATCTGTTAC -3'

Posted On

2013-11-18