Mutagenetix > Incidental Mutation

Incidental Mutation 'R3078:Dock6'

265295

Institutional Source

Beutler Lab

Gene Symbol

Dock6

Ensembl Gene

ENSMUSG00000032198

Gene Name

dedicator of cytokinesis 6

Synonyms

4931431C02Rik, 2410095B20Rik, C330023D02Rik

MMRRC Submission

040568-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.488) question?

Stock #

R3078 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

21711476-21764006 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

G to T at 21757050 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000149156 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034728] [ENSMUST00000217336]

AlphaFold

Q8VDR9

Predicted Effect

probably benign
Transcript: ENSMUST00000034728

SMART Domains

Protein: ENSMUSP00000034728
Gene: ENSMUSG00000032198

Domain	Start	End	E-Value	Type
low complexity region	26	42	N/A	INTRINSIC
Pfam:DUF3398	63	155	4.7e-26	PFAM
low complexity region	419	429	N/A	INTRINSIC
low complexity region	478	489	N/A	INTRINSIC
Pfam:DOCK-C2	542	721	3.4e-46	PFAM
low complexity region	754	770	N/A	INTRINSIC
low complexity region	776	787	N/A	INTRINSIC
low complexity region	945	965	N/A	INTRINSIC
low complexity region	1057	1072	N/A	INTRINSIC
low complexity region	1123	1153	N/A	INTRINSIC
low complexity region	1173	1190	N/A	INTRINSIC
low complexity region	1340	1356	N/A	INTRINSIC
Pfam:DHR-2	1554	2080	6.6e-214	PFAM
low complexity region	2093	2107	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000213296

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000213775

Predicted Effect

probably benign
Transcript: ENSMUST00000217336

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000217515

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.3%

Validation Efficiency

93% (42/45)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the dedicator of cytokinesis (DOCK) family of atypical guanine nucleotide exchange factors. Guanine nucleotide exchange factors interact with small GTPases and are components of intracellular signaling networks. The encoded protein is a group C DOCK protein and plays a role in actin cytoskeletal reorganization by activating the Rho GTPases Cdc42 and Rac1. Mutations in this gene are associated with Adams-Oliver syndrome 2. [provided by RefSeq, Dec 2011]

Allele List at MGI

Other mutations in this stock

Total: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca12	T	C	1: 71,306,764 (GRCm39)	I1981V	probably benign	Het
Actr3b	A	G	5: 26,027,440 (GRCm39)	Y37C	probably damaging	Het
Adgrd1	A	T	5: 129,206,169 (GRCm39)	I248F	probably benign	Het
Alg10b	T	C	15: 90,112,139 (GRCm39)	S328P	probably benign	Het
C5ar2	G	A	7: 15,971,349 (GRCm39)	R193C	probably damaging	Het
Cct8	A	G	16: 87,285,765 (GRCm39)	V231A	possibly damaging	Het
Clca4a	C	T	3: 144,674,014 (GRCm39)	M240I	probably damaging	Het
Cmya5	A	T	13: 93,185,435 (GRCm39)	I3520N	probably damaging	Het
Dynlrb1	T	A	2: 155,091,865 (GRCm39)	I99N	probably damaging	Het
Ebf4	G	A	2: 130,148,419 (GRCm39)	D77N	probably damaging	Het
Fbxw10	C	T	11: 62,758,339 (GRCm39)		probably benign	Het
Gm10801	T	C	2: 98,494,197 (GRCm39)	I113T	probably damaging	Het
Gm5499	T	C	17: 87,386,314 (GRCm39)		noncoding transcript	Het
Gm9913	A	G	2: 125,348,459 (GRCm39)		probably benign	Het
Herc2	A	G	7: 55,786,991 (GRCm39)	N1612S	probably benign	Het
Ifnar2	T	C	16: 91,182,889 (GRCm39)	S53P	possibly damaging	Het
Inpp5j	T	A	11: 3,453,124 (GRCm39)		probably null	Het
Insyn2a	A	G	7: 134,519,750 (GRCm39)	I260T	probably benign	Het
Iqca1l	G	C	5: 24,751,664 (GRCm39)	T528S	probably benign	Het
Kif14	T	G	1: 136,447,383 (GRCm39)	I1396S	possibly damaging	Het
Med28	A	G	5: 45,679,820 (GRCm39)	T68A	possibly damaging	Het
Meis1	A	T	11: 18,961,254 (GRCm39)	N206K	probably benign	Het
Mfsd14a	T	C	3: 116,441,566 (GRCm39)		probably benign	Het
Mnt	G	C	11: 74,733,936 (GRCm39)		probably benign	Het
Mto1	A	G	9: 78,365,310 (GRCm39)	Y413C	probably damaging	Het
Myo7b	T	C	18: 32,100,237 (GRCm39)	D1599G	probably benign	Het
Myoz1	T	C	14: 20,703,685 (GRCm39)		probably benign	Het
Nhsl2	C	T	X: 101,121,201 (GRCm39)	R62W	probably damaging	Het
Npr2	T	A	4: 43,640,182 (GRCm39)	Y306N	probably damaging	Het
Nrxn3	T	G	12: 89,227,186 (GRCm39)	C274G	probably damaging	Het
Or1e29	G	A	11: 73,667,466 (GRCm39)	P229L	possibly damaging	Het
Or5ac22	A	T	16: 59,135,089 (GRCm39)	M227K	probably benign	Het
Phldb2	T	C	16: 45,645,373 (GRCm39)	T403A	probably benign	Het
Plaa	T	C	4: 94,458,042 (GRCm39)	I643V	probably benign	Het
Slc28a2b	T	C	2: 122,344,895 (GRCm39)	L167P	possibly damaging	Het
Stau1	T	C	2: 166,796,936 (GRCm39)	I154V	possibly damaging	Het
Ugcg	T	G	4: 59,213,922 (GRCm39)	V168G	probably damaging	Het
Vmn2r2	T	C	3: 64,042,053 (GRCm39)	I221V	probably benign	Het
Wdr93	T	C	7: 79,402,241 (GRCm39)	I180T	possibly damaging	Het
Whamm	G	C	7: 81,221,532 (GRCm39)	G155R	probably damaging	Het
Wnt5a	T	A	14: 28,235,140 (GRCm39)	Y41*	probably null	Het

Other mutations in Dock6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00944:Dock6	APN	9	21,757,930 (GRCm39)	missense	possibly damaging	0.50
IGL01025:Dock6	APN	9	21,723,103 (GRCm39)	missense	possibly damaging	0.89
IGL01390:Dock6	APN	9	21,714,341 (GRCm39)	missense	probably damaging	1.00
IGL02025:Dock6	APN	9	21,720,885 (GRCm39)	missense	probably damaging	0.98
IGL02028:Dock6	APN	9	21,750,122 (GRCm39)	missense	probably damaging	1.00
IGL02311:Dock6	APN	9	21,755,624 (GRCm39)	missense	probably damaging	1.00
IGL02441:Dock6	APN	9	21,753,222 (GRCm39)	missense	possibly damaging	0.77
IGL02504:Dock6	APN	9	21,757,951 (GRCm39)	missense	probably benign	0.19
IGL02516:Dock6	APN	9	21,713,881 (GRCm39)	missense	probably damaging	1.00
IGL02836:Dock6	APN	9	21,713,160 (GRCm39)	missense	probably damaging	1.00
IGL02894:Dock6	APN	9	21,723,111 (GRCm39)	missense	probably damaging	1.00
backwater	UTSW	9	21,735,712 (GRCm39)	missense	probably benign	0.29
bayfront	UTSW	9	21,733,041 (GRCm39)	missense	probably benign	0.29
marshland	UTSW	9	21,752,899 (GRCm39)	missense	probably benign	0.00
Shallows	UTSW	9	21,731,918 (GRCm39)	missense	probably benign
IGL03048:Dock6	UTSW	9	21,720,866 (GRCm39)	missense	probably damaging	1.00
R0370:Dock6	UTSW	9	21,725,861 (GRCm39)	missense	probably benign	0.29
R0504:Dock6	UTSW	9	21,713,732 (GRCm39)	missense	probably damaging	1.00
R0633:Dock6	UTSW	9	21,755,713 (GRCm39)	missense	probably benign	0.00
R0634:Dock6	UTSW	9	21,752,823 (GRCm39)	missense	probably damaging	1.00
R0671:Dock6	UTSW	9	21,715,923 (GRCm39)	splice site	probably benign
R0839:Dock6	UTSW	9	21,729,188 (GRCm39)	missense	probably benign	0.01
R0948:Dock6	UTSW	9	21,712,829 (GRCm39)	missense	probably damaging	1.00
R1022:Dock6	UTSW	9	21,744,908 (GRCm39)	missense	probably damaging	1.00
R1024:Dock6	UTSW	9	21,744,908 (GRCm39)	missense	probably damaging	1.00
R1073:Dock6	UTSW	9	21,757,814 (GRCm39)	missense	probably benign
R1463:Dock6	UTSW	9	21,743,202 (GRCm39)	missense	probably damaging	1.00
R1481:Dock6	UTSW	9	21,731,918 (GRCm39)	missense	probably benign
R1494:Dock6	UTSW	9	21,726,038 (GRCm39)	missense	probably benign	0.34
R1547:Dock6	UTSW	9	21,725,884 (GRCm39)	missense	probably damaging	1.00
R1654:Dock6	UTSW	9	21,716,139 (GRCm39)	missense	probably damaging	0.98
R1782:Dock6	UTSW	9	21,723,142 (GRCm39)	missense	probably damaging	1.00
R1905:Dock6	UTSW	9	21,740,870 (GRCm39)	missense	probably benign	0.37
R1908:Dock6	UTSW	9	21,752,925 (GRCm39)	missense	probably damaging	1.00
R1916:Dock6	UTSW	9	21,724,387 (GRCm39)	missense	probably damaging	1.00
R2132:Dock6	UTSW	9	21,757,814 (GRCm39)	missense	probably benign
R2197:Dock6	UTSW	9	21,744,177 (GRCm39)	missense	probably damaging	1.00
R2316:Dock6	UTSW	9	21,750,973 (GRCm39)	missense	probably damaging	0.98
R2341:Dock6	UTSW	9	21,750,782 (GRCm39)	splice site	probably benign
R2519:Dock6	UTSW	9	21,727,629 (GRCm39)	missense	possibly damaging	0.54
R2924:Dock6	UTSW	9	21,720,926 (GRCm39)	missense	probably damaging	1.00
R2939:Dock6	UTSW	9	21,750,496 (GRCm39)	missense	possibly damaging	0.88
R2940:Dock6	UTSW	9	21,750,496 (GRCm39)	missense	possibly damaging	0.88
R3081:Dock6	UTSW	9	21,750,496 (GRCm39)	missense	possibly damaging	0.88
R3810:Dock6	UTSW	9	21,712,873 (GRCm39)	missense	probably damaging	1.00
R4246:Dock6	UTSW	9	21,750,786 (GRCm39)	splice site	probably null
R4604:Dock6	UTSW	9	21,713,836 (GRCm39)	missense	probably damaging	1.00
R4833:Dock6	UTSW	9	21,755,576 (GRCm39)	missense	probably damaging	1.00
R4849:Dock6	UTSW	9	21,723,068 (GRCm39)	critical splice donor site	probably null
R4896:Dock6	UTSW	9	21,735,733 (GRCm39)	missense	possibly damaging	0.48
R4926:Dock6	UTSW	9	21,757,087 (GRCm39)	missense	probably damaging	1.00
R5183:Dock6	UTSW	9	21,752,899 (GRCm39)	missense	probably benign	0.00
R5211:Dock6	UTSW	9	21,731,648 (GRCm39)	missense	probably benign	0.36
R5337:Dock6	UTSW	9	21,740,844 (GRCm39)	missense	possibly damaging	0.93
R5353:Dock6	UTSW	9	21,726,082 (GRCm39)	missense	probably benign	0.00
R5429:Dock6	UTSW	9	21,744,177 (GRCm39)	missense	probably damaging	0.99
R5463:Dock6	UTSW	9	21,721,254 (GRCm39)	splice site	probably null
R5476:Dock6	UTSW	9	21,720,885 (GRCm39)	missense	probably damaging	0.98
R5511:Dock6	UTSW	9	21,728,703 (GRCm39)	missense	possibly damaging	0.59
R5534:Dock6	UTSW	9	21,714,372 (GRCm39)	nonsense	probably null
R5718:Dock6	UTSW	9	21,735,789 (GRCm39)	missense	probably benign	0.11
R5823:Dock6	UTSW	9	21,716,124 (GRCm39)	missense	probably damaging	0.99
R5831:Dock6	UTSW	9	21,714,332 (GRCm39)	missense	probably damaging	1.00
R5887:Dock6	UTSW	9	21,731,690 (GRCm39)	missense	probably damaging	0.96
R5930:Dock6	UTSW	9	21,735,712 (GRCm39)	missense	probably benign	0.29
R6159:Dock6	UTSW	9	21,733,041 (GRCm39)	missense	probably benign	0.29
R6633:Dock6	UTSW	9	21,732,799 (GRCm39)	missense	probably damaging	1.00
R6633:Dock6	UTSW	9	21,731,627 (GRCm39)	missense	probably benign	0.17
R6665:Dock6	UTSW	9	21,751,208 (GRCm39)	missense	probably damaging	0.99
R6744:Dock6	UTSW	9	21,742,770 (GRCm39)	missense	probably damaging	1.00
R6903:Dock6	UTSW	9	21,720,860 (GRCm39)	missense	probably damaging	1.00
R6981:Dock6	UTSW	9	21,756,846 (GRCm39)	missense	probably damaging	0.99
R7024:Dock6	UTSW	9	21,731,666 (GRCm39)	missense	probably benign
R7030:Dock6	UTSW	9	21,724,375 (GRCm39)	missense	probably damaging	1.00
R7045:Dock6	UTSW	9	21,733,107 (GRCm39)	missense	probably damaging	1.00
R7139:Dock6	UTSW	9	21,712,572 (GRCm39)	missense	probably damaging	1.00
R7356:Dock6	UTSW	9	21,721,195 (GRCm39)	missense	probably damaging	1.00
R7400:Dock6	UTSW	9	21,713,103 (GRCm39)	missense	possibly damaging	0.62
R7847:Dock6	UTSW	9	21,712,503 (GRCm39)	missense	unknown
R7863:Dock6	UTSW	9	21,757,954 (GRCm39)	missense	possibly damaging	0.85
R7991:Dock6	UTSW	9	21,757,858 (GRCm39)	missense	probably damaging	1.00
R7992:Dock6	UTSW	9	21,744,135 (GRCm39)	critical splice donor site	probably null
R8012:Dock6	UTSW	9	21,757,807 (GRCm39)	missense	probably benign	0.16
R8184:Dock6	UTSW	9	21,741,596 (GRCm39)	missense	possibly damaging	0.54
R8213:Dock6	UTSW	9	21,742,740 (GRCm39)	missense	possibly damaging	0.77
R8560:Dock6	UTSW	9	21,714,132 (GRCm39)	missense	probably benign	0.00
R8828:Dock6	UTSW	9	21,757,797 (GRCm39)	missense	probably benign
R9090:Dock6	UTSW	9	21,752,796 (GRCm39)	missense	possibly damaging	0.75
R9221:Dock6	UTSW	9	21,721,153 (GRCm39)	missense	possibly damaging	0.77
R9271:Dock6	UTSW	9	21,752,796 (GRCm39)	missense	possibly damaging	0.75
R9301:Dock6	UTSW	9	21,729,111 (GRCm39)	missense	probably benign
R9308:Dock6	UTSW	9	21,728,744 (GRCm39)	nonsense	probably null
R9476:Dock6	UTSW	9	21,724,821 (GRCm39)	missense	probably damaging	1.00
R9526:Dock6	UTSW	9	21,713,802 (GRCm39)	nonsense	probably null
R9544:Dock6	UTSW	9	21,732,830 (GRCm39)	nonsense	probably null
R9716:Dock6	UTSW	9	21,742,418 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- TCGAAGACTTGGCAGGTGAG -3'
(R):5'- ATAGGGTGTTACCTGCTGTAATCC -3'

Sequencing Primer
(F):5'- CTGTACTCAGGTGCTGGTACC -3'
(R):5'- AATCCTGGGTATTATCTATGTGCC -3'

Posted On

2015-02-05