Mutagenetix > Incidental Mutation

Incidental Mutation 'R1693:Dock4'

191952

Institutional Source

Beutler Lab

Gene Symbol

Dock4

Ensembl Gene

ENSMUSG00000035954

Gene Name

dedicator of cytokinesis 4

Synonyms

EST N28122, 6330411N01Rik

MMRRC Submission

039726-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.178) question?

Stock #

R1693 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

40445952-40846874 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 40834722 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Proline to Serine at position 1742 (P1742S)

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: P1742S

PolyPhen 2 Score 0.041 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000047387
Gene: ENSMUSG00000035954
AA Change: P1742S

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: P1742S

PolyPhen 2 Score 0.068 (Sensitivity: 0.94; Specificity: 0.84)

Meta Mutation Damage Score

0.0625

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.2%
20x: 92.2%

Validation Efficiency

96% (69/72)

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aff4	A	G	11: 53,396,553	D378G	probably damaging	Het
Anpep	C	T	7: 79,838,256	E518K	probably benign	Het
Aox1	T	C	1: 58,085,542	Y981H	probably damaging	Het
Arfgap2	T	A	2: 91,270,075		probably null	Het
Ccnf	TGGGGG	TGGGGGGG	17: 24,226,540		probably null	Het
Cd53	T	C	3: 106,768,889	N54S	possibly damaging	Het
Cep152	C	A	2: 125,566,254	A1390S	probably benign	Het
Chd7	T	C	4: 8,864,307		probably null	Het
Chrm5	A	G	2: 112,479,280	L497P	probably damaging	Het
Colec12	G	A	18: 9,866,765	V659M	unknown	Het
Creb3	C	A	4: 43,566,755	H390Q	probably damaging	Het
D1Pas1	T	C	1: 186,968,029	F52L	probably benign	Het
D5Ertd579e	A	G	5: 36,614,097	F985L	probably damaging	Het
Ehmt2	G	T	17: 34,906,410	V534L	possibly damaging	Het
Epcam	A	G	17: 87,639,896	D26G	probably benign	Het
F2	C	T	2: 91,629,179	V420M	probably damaging	Het
Fbxw16	A	T	9: 109,436,259	D401E	possibly damaging	Het
Fiz1	T	C	7: 5,008,728	T264A	probably benign	Het
Fsbp	T	C	4: 11,583,745	V148A	probably benign	Het
Furin	A	G	7: 80,392,482	L455P	probably damaging	Het
Ggt7	G	A	2: 155,506,475	R10W	probably damaging	Het
Gucy2g	T	C	19: 55,222,926	E624G	probably damaging	Het
Igf2r	A	G	17: 12,704,316	F1202S	probably damaging	Het
Ikzf1	C	T	11: 11,707,838	P32S	probably damaging	Het
Itgal	G	A	7: 127,305,281	V309M	probably damaging	Het
Kcnk5	C	A	14: 20,141,896	R399L	probably damaging	Het
Kdm5b	C	T	1: 134,597,576		probably benign	Het
Lrp2	C	T	2: 69,510,418	V1038M	probably damaging	Het
Lrp4	T	C	2: 91,492,353	Y1096H	probably damaging	Het
Lrrc7	C	G	3: 158,084,533	S1465T	possibly damaging	Het
Maats1	A	G	16: 38,341,723	Y19H	probably benign	Het
Map3k5	A	G	10: 20,104,242	N832S	probably damaging	Het
Mkl2	C	A	16: 13,398,470	L349I	possibly damaging	Het
Mkl2	T	A	16: 13,398,471	L349Q	probably damaging	Het
Myh13	A	C	11: 67,341,484	M495L	possibly damaging	Het
Myh9	A	C	15: 77,812,897	Y106D	probably damaging	Het
Naa16	A	T	14: 79,351,456	W452R	probably damaging	Het
Nsd1	T	C	13: 55,247,261	S892P	probably benign	Het
Nup205	A	G	6: 35,210,971	I939V	probably benign	Het
Oit3	A	G	10: 59,425,417	F476S	probably damaging	Het
Olfr868	T	C	9: 20,101,587	V276A	probably benign	Het
Panx3	A	T	9: 37,668,907	M50K	possibly damaging	Het
Panx3	A	C	9: 37,668,946	M37R	possibly damaging	Het
Ppp2r5e	C	G	12: 75,469,567	A239P	probably damaging	Het
Prkaca	T	A	8: 83,981,198	D37E	probably benign	Het
Prkcq	T	A	2: 11,254,199	I310N	probably damaging	Het
Prrc2c	A	G	1: 162,718,713	Y235H	probably damaging	Het
Ptprj	A	T	2: 90,449,797	C1052*	probably null	Het
Rad52	C	A	6: 119,916,035	P180Q	probably damaging	Het
Sdhaf3	T	A	6: 7,038,964	D95E	probably benign	Het
Slitrk6	A	G	14: 110,750,928	I449T	probably damaging	Het
Spata7	T	A	12: 98,664,257	M358K	possibly damaging	Het
Tada2a	C	T	11: 84,082,069	G178D	probably damaging	Het
Tap2	G	C	17: 34,209,212	V287L	probably benign	Het
Tmem200a	A	G	10: 25,993,979	F131L	possibly damaging	Het
Tmem55a	T	A	4: 14,886,631	D68E	probably benign	Het
Traip	A	T	9: 107,970,030	K356M	probably damaging	Het
Tspan8	T	A	10: 115,844,044		probably benign	Het
U2surp	A	T	9: 95,511,860	M1K	probably null	Het
Vars	A	T	17: 34,998,196	D427E	probably benign	Het
Vmn1r113	G	A	7: 20,787,607	C108Y	probably damaging	Het
Vmn2r63	T	A	7: 42,928,319	Q265L	probably benign	Het
Vps33b	T	A	7: 80,287,893	V463E	probably damaging	Het
Vrtn	T	C	12: 84,648,655	S60P	probably benign	Het
Zfp53	T	A	17: 21,509,622	V639D	possibly damaging	Het
Zfp964	T	A	8: 69,664,150	S466T	possibly damaging	Het

Other mutations in Dock4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00427:Dock4	APN	12	40832306	missense	possibly damaging	0.48
IGL00726:Dock4	APN	12	40790068	splice site	probably benign
IGL00790:Dock4	APN	12	40834391	missense	probably damaging	1.00
IGL01061:Dock4	APN	12	40702969	missense	probably benign	0.01
IGL01083:Dock4	APN	12	40788381	splice site	probably benign
IGL01412:Dock4	APN	12	40730041	splice site	probably benign
IGL01583:Dock4	APN	12	40810467	nonsense	probably null
IGL01603:Dock4	APN	12	40693031	missense	probably damaging	1.00
IGL01766:Dock4	APN	12	40446379	nonsense	probably null
IGL02067:Dock4	APN	12	40834385	missense	probably damaging	1.00
IGL02302:Dock4	APN	12	40725777	missense	probably damaging	1.00
IGL02406:Dock4	APN	12	40777207	missense	probably benign	0.01
IGL02547:Dock4	APN	12	40737479	missense	probably benign
IGL02613:Dock4	APN	12	40810466	missense	probably damaging	1.00
IGL02643:Dock4	APN	12	40668430	missense	probably damaging	1.00
IGL02952:Dock4	APN	12	40710903	critical splice donor site	probably null
IGL02994:Dock4	APN	12	40779160	missense	probably damaging	0.99
IGL03096:Dock4	APN	12	40748001	missense	probably benign	0.00
IGL03144:Dock4	APN	12	40692907	splice site	probably benign
IGL03223:Dock4	APN	12	40817594	missense	probably damaging	1.00
IGL03296:Dock4	APN	12	40733257	missense	possibly damaging	0.84
IGL03349:Dock4	APN	12	40733310	missense	probably benign	0.42
IGL03353:Dock4	APN	12	40817758	splice site	probably null
BB005:Dock4	UTSW	12	40788303	missense	probably damaging	0.98
BB015:Dock4	UTSW	12	40788303	missense	probably damaging	0.98
R0046:Dock4	UTSW	12	40737360	splice site	probably benign
R0046:Dock4	UTSW	12	40737360	splice site	probably benign
R0110:Dock4	UTSW	12	40621312	splice site	probably benign
R0238:Dock4	UTSW	12	40737540	missense	probably damaging	0.98
R0238:Dock4	UTSW	12	40737540	missense	probably damaging	0.98
R0239:Dock4	UTSW	12	40737540	missense	probably damaging	0.98
R0239:Dock4	UTSW	12	40737540	missense	probably damaging	0.98
R0472:Dock4	UTSW	12	40838438	intron	probably benign
R0616:Dock4	UTSW	12	40704415	missense	probably benign	0.31
R0647:Dock4	UTSW	12	40710884	missense	probably damaging	1.00
R0706:Dock4	UTSW	12	40702923	missense	probably damaging	0.98
R0791:Dock4	UTSW	12	40704481	missense	probably damaging	1.00
R0940:Dock4	UTSW	12	40631627	splice site	probably benign
R1087:Dock4	UTSW	12	40729938	missense	probably benign	0.40
R1180:Dock4	UTSW	12	40640414	missense	possibly damaging	0.52
R1194:Dock4	UTSW	12	40829616	missense	probably damaging	1.00
R1463:Dock4	UTSW	12	40816325	frame shift	probably null
R1468:Dock4	UTSW	12	40755810	missense	probably benign	0.00
R1468:Dock4	UTSW	12	40755810	missense	probably benign	0.00
R1523:Dock4	UTSW	12	40693025	missense	possibly damaging	0.88
R1616:Dock4	UTSW	12	40669045	missense	probably damaging	0.99
R1682:Dock4	UTSW	12	40725780	missense	probably damaging	1.00
R1691:Dock4	UTSW	12	40725755	missense	probably benign	0.26
R1737:Dock4	UTSW	12	40807001	splice site	probably null
R1802:Dock4	UTSW	12	40794598	missense	possibly damaging	0.90
R1813:Dock4	UTSW	12	40636228	missense	probably damaging	1.00
R1846:Dock4	UTSW	12	40733268	missense	probably benign	0.00
R1959:Dock4	UTSW	12	40710798	missense	probably damaging	1.00
R1975:Dock4	UTSW	12	40779642	splice site	probably benign
R1986:Dock4	UTSW	12	40730063	missense	probably damaging	1.00
R2105:Dock4	UTSW	12	40692989	missense	probably benign	0.00
R2134:Dock4	UTSW	12	40745668	missense	probably benign
R2135:Dock4	UTSW	12	40745668	missense	probably benign
R2154:Dock4	UTSW	12	40820662	missense	probably damaging	1.00
R2154:Dock4	UTSW	12	40844548	small insertion	probably benign
R2864:Dock4	UTSW	12	40730073	missense	probably damaging	1.00
R2890:Dock4	UTSW	12	40623801	critical splice acceptor site	probably null
R3086:Dock4	UTSW	12	40731863	missense	probably benign	0.02
R3808:Dock4	UTSW	12	40672810	missense	probably damaging	0.99
R3811:Dock4	UTSW	12	40779124	missense	possibly damaging	0.87
R3836:Dock4	UTSW	12	40794624	critical splice donor site	probably null
R3838:Dock4	UTSW	12	40794624	critical splice donor site	probably null
R4091:Dock4	UTSW	12	40844267	missense	probably damaging	0.99
R4735:Dock4	UTSW	12	40631526	missense	probably benign	0.31
R4752:Dock4	UTSW	12	40446365	missense	probably benign	0.04
R4828:Dock4	UTSW	12	40668437	missense	probably damaging	1.00
R5039:Dock4	UTSW	12	40817746	missense	probably damaging	1.00
R5092:Dock4	UTSW	12	40844441	missense	probably benign
R5146:Dock4	UTSW	12	40649492	splice site	probably null
R5213:Dock4	UTSW	12	40676742	missense	probably damaging	1.00
R5214:Dock4	UTSW	12	40704466	missense	probably benign	0.00
R5270:Dock4	UTSW	12	40733271	missense	probably benign	0.02
R5426:Dock4	UTSW	12	40745745	missense	probably damaging	1.00
R5474:Dock4	UTSW	12	40745731	missense	probably benign
R5544:Dock4	UTSW	12	40834702	missense	possibly damaging	0.87
R5615:Dock4	UTSW	12	40649480	missense	probably benign	0.22
R5649:Dock4	UTSW	12	40844540	missense	probably benign	0.03
R5702:Dock4	UTSW	12	40737491	missense	probably benign	0.02
R5846:Dock4	UTSW	12	40817736	missense	probably damaging	1.00
R5847:Dock4	UTSW	12	40621251	missense	probably damaging	0.97
R5895:Dock4	UTSW	12	40755813	missense	probably damaging	1.00
R5997:Dock4	UTSW	12	40755834	missense	probably damaging	0.99
R6011:Dock4	UTSW	12	40817757	critical splice donor site	probably null
R6022:Dock4	UTSW	12	40748110	missense	probably benign	0.04
R6038:Dock4	UTSW	12	40733351	splice site	probably null
R6038:Dock4	UTSW	12	40733351	splice site	probably null
R6179:Dock4	UTSW	12	40731869	missense	probably benign	0.00
R6479:Dock4	UTSW	12	40828955	missense	probably damaging	1.00
R6516:Dock4	UTSW	12	40731899	missense	possibly damaging	0.94
R6748:Dock4	UTSW	12	40704466	missense	probably benign	0.44
R6752:Dock4	UTSW	12	40820617	missense	probably damaging	1.00
R6814:Dock4	UTSW	12	40812326	critical splice donor site	probably null
R6864:Dock4	UTSW	12	40745746	missense	probably damaging	1.00
R6872:Dock4	UTSW	12	40812326	critical splice donor site	probably null
R6891:Dock4	UTSW	12	40779136	missense	probably damaging	1.00
R6937:Dock4	UTSW	12	40834635	missense	probably benign	0.01
R6950:Dock4	UTSW	12	40733314	missense	possibly damaging	0.80
R7081:Dock4	UTSW	12	40621286	missense	probably damaging	1.00
R7129:Dock4	UTSW	12	40828879	missense	probably damaging	1.00
R7140:Dock4	UTSW	12	40636159	missense	probably benign	0.06
R7241:Dock4	UTSW	12	40794860	missense	probably damaging	1.00
R7378:Dock4	UTSW	12	40788244	missense	possibly damaging	0.94
R7714:Dock4	UTSW	12	40725649	nonsense	probably null
R7720:Dock4	UTSW	12	40806975	missense	probably damaging	0.99
R7756:Dock4	UTSW	12	40710879	missense	probably benign	0.02
R7758:Dock4	UTSW	12	40710879	missense	probably benign	0.02
R7759:Dock4	UTSW	12	40817736	missense	probably damaging	1.00
R7787:Dock4	UTSW	12	40725677	missense	probably benign
R7879:Dock4	UTSW	12	40730084	missense	possibly damaging	0.76
R7928:Dock4	UTSW	12	40788303	missense	probably damaging	0.98
R8000:Dock4	UTSW	12	40833119	missense	probably benign	0.05
R8042:Dock4	UTSW	12	40745760	missense	probably benign	0.01
R8231:Dock4	UTSW	12	40702951	missense	possibly damaging	0.88
R8234:Dock4	UTSW	12	40834838	splice site	probably null
R8758:Dock4	UTSW	12	40788232	missense	probably benign	0.12
R8871:Dock4	UTSW	12	40745731	missense	probably benign
R8873:Dock4	UTSW	12	40676768	nonsense	probably null
R8884:Dock4	UTSW	12	40806885	missense	probably damaging	1.00
R9164:Dock4	UTSW	12	40704338	missense	probably damaging	1.00
R9225:Dock4	UTSW	12	40829670	missense	probably benign	0.02
R9276:Dock4	UTSW	12	40649405	missense	possibly damaging	0.48
R9307:Dock4	UTSW	12	40636156	missense	probably damaging	1.00
R9675:Dock4	UTSW	12	40844380	small insertion	probably benign
R9675:Dock4	UTSW	12	40844394	small insertion	probably benign
R9676:Dock4	UTSW	12	40844380	small insertion	probably benign
R9676:Dock4	UTSW	12	40844388	small insertion	probably benign
R9676:Dock4	UTSW	12	40844398	small insertion	probably benign
R9676:Dock4	UTSW	12	40844402	small insertion	probably benign
R9678:Dock4	UTSW	12	40844380	small insertion	probably benign
R9678:Dock4	UTSW	12	40844388	small insertion	probably benign
R9678:Dock4	UTSW	12	40844397	small insertion	probably benign
R9691:Dock4	UTSW	12	40636098	missense	probably damaging	1.00
RF018:Dock4	UTSW	12	40844399	frame shift	probably null
RF025:Dock4	UTSW	12	40844393	frame shift	probably null
RF063:Dock4	UTSW	12	40844399	frame shift	probably null
X0028:Dock4	UTSW	12	40669047	missense	probably benign	0.25
Z1176:Dock4	UTSW	12	40631614	missense	probably benign	0.01
Z1176:Dock4	UTSW	12	40631616	missense	probably benign	0.16
Z1177:Dock4	UTSW	12	40817641	missense	possibly damaging	0.88

Predicted Primers

PCR Primer
(F):5'- CCTAATGTGACCAGTTCTGCTCCG -3'
(R):5'- GGATGAGTCAGATGGTGCTCCAAAC -3'

Sequencing Primer
(F):5'- TGGCCCATATTGTAGGCAGC -3'
(R):5'- TGCTCCAAACAATGGGCAG -3'

Posted On

2014-05-14