Mutagenetix > Incidental Mutations

Incidental Mutation 'R1494:Dock6'

163821

Institutional Source

Beutler Lab

Gene Symbol

Dock6

Ensembl Gene

ENSMUSG00000032198

Gene Name

dedicator of cytokinesis 6

Synonyms

2410095B20Rik, C330023D02Rik, 4931431C02Rik

MMRRC Submission

039545-MU

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.385) question?

Stock #

R1494 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

21799860-21852635 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 21814742 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 1424 (V1424A)

Ref Sequence

ENSEMBL: ENSMUSP00000034728 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000034728
AA Change: V1424A

PolyPhen 2 Score 0.340 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000034728
Gene: ENSMUSG00000032198
AA Change: V1424A

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: ENSMUST00000184374

Predicted Effect

unknown
Transcript: ENSMUST00000215729
AA Change: V188A

Predicted Effect

probably benign
Transcript: ENSMUST00000217336
AA Change: V1455A

PolyPhen 2 Score 0.047 (Sensitivity: 0.94; Specificity: 0.83)

Meta Mutation Damage Score

0.0921

Coding Region Coverage

1x: 99.0%
3x: 98.1%
10x: 95.8%
20x: 91.3%

Validation Efficiency

97% (57/59)

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700067P10Rik	A	G	17: 48,090,471	E92G	probably benign	Het
Abca13	C	T	11: 9,466,429	Q4064*	probably null	Het
Abca14	G	A	7: 120,216,301	M257I	probably benign	Het
Acsm2	T	A	7: 119,575,632	C207S	probably damaging	Het
Actr3	A	G	1: 125,416,281	I67T	probably benign	Het
Adcy7	T	C	8: 88,320,207	V606A	probably benign	Het
Ahnak2	G	A	12: 112,787,950	S54F	probably damaging	Het
Ano6	T	C	15: 95,972,507	S848P	probably damaging	Het
Atg3	C	T	16: 45,171,760		probably benign	Het
Atp8b1	T	A	18: 64,564,526	S416C	probably damaging	Het
C2cd5	A	G	6: 143,041,346		probably benign	Het
Capn11	A	T	17: 45,643,809	V134E	probably damaging	Het
Ccnd3	A	G	17: 47,598,108		probably null	Het
Chaf1b	T	A	16: 93,888,110	V149E	probably damaging	Het
Col5a2	T	A	1: 45,502,914	M1L	unknown	Het
Copa	T	C	1: 172,104,127	I315T	probably benign	Het
Cyp3a57	A	G	5: 145,381,267	M353V	probably damaging	Het
Dcaf6	T	C	1: 165,333,373	M828V	probably damaging	Het
Dock2	T	A	11: 34,282,761	K1080*	probably null	Het
Foxa1	T	C	12: 57,542,198	D412G	probably damaging	Het
Foxp4	G	C	17: 47,880,353		probably benign	Het
Galnt9	T	A	5: 110,588,330	S171T	probably damaging	Het
Glt6d1	A	G	2: 25,794,248	Y249H	probably damaging	Het
Gm37240	A	T	3: 84,527,691	Y104N	probably damaging	Het
Gpx8	C	T	13: 113,045,615	E95K	possibly damaging	Het
Grm1	T	C	10: 10,689,706	T953A	probably benign	Het
Helz	T	C	11: 107,604,063		probably benign	Het
Hif3a	T	C	7: 17,054,722	Y108C	probably damaging	Het
Kcnj13	A	T	1: 87,389,217	L58Q	probably damaging	Het
Mfsd14b	A	T	13: 65,095,671	V53D	probably damaging	Het
Mrps7	G	C	11: 115,604,126		probably benign	Het
Mug1	G	A	6: 121,879,300	G1013D	probably damaging	Het
Olfr652	T	A	7: 104,564,831	Y203*	probably null	Het
Olfr767	A	T	10: 129,079,615	M116K	probably damaging	Het
Pax6	T	C	2: 105,691,610	I19T	probably benign	Het
Pde8b	G	A	13: 95,047,796	R416C	probably damaging	Het
Prl2c2	G	C	13: 13,002,201	T47R	probably damaging	Het
Pygl	G	A	12: 70,199,730	R348W	probably damaging	Het
Ralgapa1	T	A	12: 55,684,524	D1874V	probably damaging	Het
Shf	G	A	2: 122,368,682	P51S	probably damaging	Het
Sncaip	T	C	18: 52,868,886	S160P	probably damaging	Het
Sptbn4	A	G	7: 27,434,294	V79A	probably damaging	Het
Sptlc3	A	T	2: 139,589,560	Y334F	possibly damaging	Het
Supt16	A	G	14: 52,172,459	Y764H	probably benign	Het
Syne3	A	T	12: 104,955,582	V438E	possibly damaging	Het
Tagap1	T	C	17: 6,956,811	D162G	probably damaging	Het
Terb1	T	C	8: 104,498,490		probably benign	Het
Themis3	C	A	17: 66,559,954	R97L	probably benign	Het
Tnk1	T	A	11: 69,856,546	E86D	possibly damaging	Het
Tnpo3	A	G	6: 29,557,044	L53P	probably damaging	Het
Trpc6	G	A	9: 8,658,304	R725K	probably benign	Het
Ttll11	T	G	2: 35,795,379	T566P	probably damaging	Het
Unc5c	A	T	3: 141,827,549	T779S	possibly damaging	Het
Zfp42	A	G	8: 43,295,601	C288R	possibly damaging	Het
Zfp763	G	A	17: 33,021,503	T52I	probably damaging	Het

Other mutations in Dock6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00944:Dock6	APN	9	21846634	missense	possibly damaging	0.50
IGL01025:Dock6	APN	9	21811807	missense	possibly damaging	0.89
IGL01390:Dock6	APN	9	21803045	missense	probably damaging	1.00
IGL02025:Dock6	APN	9	21809589	missense	probably damaging	0.98
IGL02028:Dock6	APN	9	21838826	missense	probably damaging	1.00
IGL02311:Dock6	APN	9	21844328	missense	probably damaging	1.00
IGL02441:Dock6	APN	9	21841926	missense	possibly damaging	0.77
IGL02504:Dock6	APN	9	21846655	missense	probably benign	0.19
IGL02516:Dock6	APN	9	21802585	missense	probably damaging	1.00
IGL02836:Dock6	APN	9	21801864	missense	probably damaging	1.00
IGL02894:Dock6	APN	9	21811815	missense	probably damaging	1.00
backwater	UTSW	9	21824416	missense	probably benign	0.29
bayfront	UTSW	9	21821745	missense	probably benign	0.29
marshland	UTSW	9	21841603	missense	probably benign	0.00
Shallows	UTSW	9	21820622	missense	probably benign
IGL03048:Dock6	UTSW	9	21809570	missense	probably damaging	1.00
R0370:Dock6	UTSW	9	21814565	missense	probably benign	0.29
R0504:Dock6	UTSW	9	21802436	missense	probably damaging	1.00
R0633:Dock6	UTSW	9	21844417	missense	probably benign	0.00
R0634:Dock6	UTSW	9	21841527	missense	probably damaging	1.00
R0671:Dock6	UTSW	9	21804627	splice site	probably benign
R0839:Dock6	UTSW	9	21817892	missense	probably benign	0.01
R0948:Dock6	UTSW	9	21801533	missense	probably damaging	1.00
R1022:Dock6	UTSW	9	21833612	missense	probably damaging	1.00
R1024:Dock6	UTSW	9	21833612	missense	probably damaging	1.00
R1073:Dock6	UTSW	9	21846518	missense	probably benign
R1463:Dock6	UTSW	9	21831906	missense	probably damaging	1.00
R1481:Dock6	UTSW	9	21820622	missense	probably benign
R1547:Dock6	UTSW	9	21814588	missense	probably damaging	1.00
R1654:Dock6	UTSW	9	21804843	missense	probably damaging	0.98
R1782:Dock6	UTSW	9	21811846	missense	probably damaging	1.00
R1905:Dock6	UTSW	9	21829574	missense	probably benign	0.37
R1908:Dock6	UTSW	9	21841629	missense	probably damaging	1.00
R1916:Dock6	UTSW	9	21813091	missense	probably damaging	1.00
R2132:Dock6	UTSW	9	21846518	missense	probably benign
R2197:Dock6	UTSW	9	21832881	missense	probably damaging	1.00
R2316:Dock6	UTSW	9	21839677	missense	probably damaging	0.98
R2341:Dock6	UTSW	9	21839486	splice site	probably benign
R2519:Dock6	UTSW	9	21816333	missense	possibly damaging	0.54
R2924:Dock6	UTSW	9	21809630	missense	probably damaging	1.00
R2939:Dock6	UTSW	9	21839200	missense	possibly damaging	0.88
R2940:Dock6	UTSW	9	21839200	missense	possibly damaging	0.88
R3078:Dock6	UTSW	9	21845754	splice site	probably benign
R3081:Dock6	UTSW	9	21839200	missense	possibly damaging	0.88
R3810:Dock6	UTSW	9	21801577	missense	probably damaging	1.00
R4246:Dock6	UTSW	9	21839490	splice site	probably null
R4604:Dock6	UTSW	9	21802540	missense	probably damaging	1.00
R4833:Dock6	UTSW	9	21844280	missense	probably damaging	1.00
R4849:Dock6	UTSW	9	21811772	critical splice donor site	probably null
R4896:Dock6	UTSW	9	21824437	missense	possibly damaging	0.48
R4926:Dock6	UTSW	9	21845791	missense	probably damaging	1.00
R5183:Dock6	UTSW	9	21841603	missense	probably benign	0.00
R5211:Dock6	UTSW	9	21820352	missense	probably benign	0.36
R5337:Dock6	UTSW	9	21829548	missense	possibly damaging	0.93
R5353:Dock6	UTSW	9	21814786	missense	probably benign	0.00
R5429:Dock6	UTSW	9	21832881	missense	probably damaging	0.99
R5463:Dock6	UTSW	9	21809958	splice site	probably null
R5476:Dock6	UTSW	9	21809589	missense	probably damaging	0.98
R5511:Dock6	UTSW	9	21817407	missense	possibly damaging	0.59
R5534:Dock6	UTSW	9	21803076	nonsense	probably null
R5718:Dock6	UTSW	9	21824493	missense	probably benign	0.11
R5823:Dock6	UTSW	9	21804828	missense	probably damaging	0.99
R5831:Dock6	UTSW	9	21803036	missense	probably damaging	1.00
R5887:Dock6	UTSW	9	21820394	missense	probably damaging	0.96
R5930:Dock6	UTSW	9	21824416	missense	probably benign	0.29
R6159:Dock6	UTSW	9	21821745	missense	probably benign	0.29
R6633:Dock6	UTSW	9	21820331	missense	probably benign	0.17
R6633:Dock6	UTSW	9	21821503	missense	probably damaging	1.00
R6665:Dock6	UTSW	9	21839912	missense	probably damaging	0.99
R6744:Dock6	UTSW	9	21831474	missense	probably damaging	1.00
R6903:Dock6	UTSW	9	21809564	missense	probably damaging	1.00
R6981:Dock6	UTSW	9	21845550	missense	probably damaging	0.99
R7024:Dock6	UTSW	9	21820370	missense	probably benign
R7030:Dock6	UTSW	9	21813079	missense	probably damaging	1.00
R7045:Dock6	UTSW	9	21821811	missense	probably damaging	1.00
R7139:Dock6	UTSW	9	21801276	missense	probably damaging	1.00
R7356:Dock6	UTSW	9	21809899	missense	probably damaging	1.00
R7400:Dock6	UTSW	9	21801807	missense	possibly damaging	0.62
R7847:Dock6	UTSW	9	21801207	missense	unknown
R7863:Dock6	UTSW	9	21846658	missense	possibly damaging	0.85
R7991:Dock6	UTSW	9	21846562	missense	probably damaging	1.00
R7992:Dock6	UTSW	9	21832839	critical splice donor site	probably null
R8012:Dock6	UTSW	9	21846511	missense	probably benign	0.16
R8184:Dock6	UTSW	9	21830300	missense	possibly damaging	0.54
R8213:Dock6	UTSW	9	21831444	missense	possibly damaging	0.77

Predicted Primers

PCR Primer
(F):5'- AACTTTCAGCACGGCACTCAGG -3'
(R):5'- CGTGACATGTGGGCAAGGAAATTC -3'

Sequencing Primer
(F):5'- GCACTCAGGATGCTCTCAC -3'
(R):5'- TAGAGCAGTTTCCAGAGAGCTTC -3'

Posted On

2014-03-28