Mutagenetix > Incidental Mutation

Incidental Mutation 'R1975:Dock4'

221619

Institutional Source

Beutler Lab

Gene Symbol

Dock4

Ensembl Gene

ENSMUSG00000035954

Gene Name

dedicator of cytokinesis 4

Synonyms

EST N28122, 6330411N01Rik

MMRRC Submission

039988-MU

Accession Numbers

Essential gene?

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

Stock #

R1975 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

40445952-40846874 bp(+) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

T to C at 40779642 bp (GRCm38)

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 benign
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 benign
Transcript: ENSMUST00000220912

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000221731

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000222287

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 94.3%

Validation Efficiency

96% (71/74)

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acad12	T	C	5: 121,604,259	T429A	probably benign	Het
Afmid	A	C	11: 117,836,474	I275L	probably benign	Het
Aimp1	A	C	3: 132,677,099	D5E	possibly damaging	Het
Aldob	G	A	4: 49,538,171	A319V	probably benign	Het
Ankar	C	T	1: 72,658,441	V1068I	possibly damaging	Het
Ccr2	C	T	9: 124,106,793	S370L	probably benign	Het
Chrnb4	A	G	9: 55,034,818	Y391H	probably damaging	Het
Clip1	A	G	5: 123,623,218	M873T	possibly damaging	Het
Cspg4	G	C	9: 56,890,478	G1409R	probably damaging	Het
Dnah17	A	T	11: 118,096,536	L1320*	probably null	Het
Eml4	T	C	17: 83,410,193	S65P	probably benign	Het
Fblim1	A	T	4: 141,584,864	D183E	probably damaging	Het
Foxn1	T	C	11: 78,365,937		probably benign	Het
Gm973	A	T	1: 59,562,771	T515S	possibly damaging	Het
Hdac7	G	A	15: 97,806,505	Q495*	probably null	Het
Hipk3	T	C	2: 104,471,173	I225V	probably benign	Het
Hrc	A	T	7: 45,336,214	D263V	probably damaging	Het
Hs6st3	T	C	14: 119,138,476	I21T	probably benign	Het
Il15ra	A	G	2: 11,723,523	T133A	possibly damaging	Het
Krt78	T	C	15: 101,946,168	*1069W	probably null	Het
Lama3	T	A	18: 12,453,863	M761K	probably damaging	Het
Lonp1	T	C	17: 56,615,068	T771A	possibly damaging	Het
Macf1	T	C	4: 123,489,212	T1320A	probably damaging	Het
Mark3	A	T	12: 111,615,441	I115L	probably damaging	Het
Mcph1	T	G	8: 18,689,065		probably benign	Het
Med23	T	A	10: 24,910,766	N923K	probably benign	Het
Msrb2	T	G	2: 19,393,221	Y97D	probably damaging	Het
Muc6	C	T	7: 141,648,101	G708S	probably damaging	Het
Mylk	T	C	16: 34,880,303		probably null	Het
Nfrkb	T	A	9: 31,414,684	V1141E	possibly damaging	Het
Obscn	T	C	11: 59,067,729	E3675G	probably damaging	Het
Olfr1053	C	G	2: 86,315,154	G44A	probably damaging	Het
Olfr167	G	A	16: 19,514,836	P267S	probably damaging	Het
Olfr203	T	C	16: 59,303,728	S193P	probably damaging	Het
Olfr612	A	T	7: 103,538,994	F80Y	probably damaging	Het
Olfr619	A	G	7: 103,604,012		probably null	Het
Olfr720	A	T	14: 14,175,446	V212E	probably damaging	Het
Olfr746	T	A	14: 50,653,364	N42K	probably damaging	Het
Pan2	T	C	10: 128,320,413	V1171A	probably damaging	Het
Pdgfc	C	T	3: 81,209,245	T302I	probably damaging	Het
Pkhd1l1	G	T	15: 44,529,713	V1815F	probably damaging	Het
Pnpt1	A	G	11: 29,141,256	I337V	probably benign	Het
Psma8	T	G	18: 14,730,976		probably null	Het
Rbl2	T	C	8: 91,085,462	S220P	probably benign	Het
Rere	T	A	4: 150,615,733	D1091E	probably damaging	Het
Rpa1	A	G	11: 75,306,176	C540R	probably damaging	Het
Sema3d	T	A	5: 12,563,318	V454E	probably damaging	Het
Sema3d	T	C	5: 12,584,998	V677A	probably benign	Het
Sgk2	A	G	2: 163,004,160	N207S	probably benign	Het
Sirpb1a	T	C	3: 15,379,081	I370V	probably benign	Het
Slc22a19	A	G	19: 7,683,859		probably benign	Het
Slc26a1	T	A	5: 108,672,472	D287V	probably damaging	Het
Slc36a4	T	A	9: 15,734,210	V311D	probably damaging	Het
Slco1b2	A	T	6: 141,683,225	Y551F	probably damaging	Het
Slco2a1	T	A	9: 103,079,454	Y488*	probably null	Het
Stab2	A	C	10: 86,896,496		probably null	Het
Strn	T	C	17: 78,692,499		probably null	Het
Tbxas1	A	G	6: 38,948,641		probably benign	Het
Thumpd3	A	G	6: 113,055,877	N192S	possibly damaging	Het
Tns3	T	A	11: 8,435,738	I1386F	probably benign	Het
Treml4	T	A	17: 48,272,793	V219E	probably damaging	Het
Triobp	T	C	15: 78,966,708	V354A	probably benign	Het
Tspan8	A	G	10: 115,844,130	I217V	probably benign	Het
Tub	G	A	7: 109,027,835	G314R	possibly damaging	Het
Ube3b	C	T	5: 114,399,865	T339M	possibly damaging	Het
Vmn2r43	A	G	7: 8,255,551	I221T	possibly damaging	Het
Vmn2r5	C	T	3: 64,504,221	E309K	probably damaging	Het
Zfp110	C	T	7: 12,848,502	T359I	probably benign	Het
Zfp322a	A	T	13: 23,356,904	C223S	probably damaging	Het
Zfp512b	G	A	2: 181,587,085	R696*	probably null	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
R1693:Dock4	UTSW	12	40834722	missense	probably benign	0.07
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
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'- TTTATTTAAGGCCACCGAGACGTG -3'
(R):5'- ACGATGTCAGTTTCTGGAGAC -3'

Sequencing Primer
(F):5'- CGAGACGTGTTCACTAGCTAC -3'
(R):5'- GACAGCTTTTGAGTGTGATAAAGAC -3'

Posted On

2014-08-25