Mutagenetix > Incidental Mutations

Incidental Mutation 'R3810:Dock6'

275164

Institutional Source

Beutler Lab

Gene Symbol

Dock6

Ensembl Gene

ENSMUSG00000032198

Gene Name

dedicator of cytokinesis 6

Synonyms

2410095B20Rik, C330023D02Rik, 4931431C02Rik

MMRRC Submission

040880-MU

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.453) question?

Stock #

R3810 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

21799860-21852635 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 21801577 bp

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 1995 (K1995E)

Ref Sequence

ENSEMBL: ENSMUSP00000034728 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034717] [ENSMUST00000034728] [ENSMUST00000213691] [ENSMUST00000216008] [ENSMUST00000217336]

Predicted Effect

probably benign
Transcript: ENSMUST00000034717

SMART Domains

Protein: ENSMUSP00000034717
Gene: ENSMUSG00000032194

Domain	Start	End	E-Value	Type
Pfam:KN_motif	31	69	9.6e-26	PFAM
low complexity region	139	157	N/A	INTRINSIC
coiled coil region	213	229	N/A	INTRINSIC
coiled coil region	284	316	N/A	INTRINSIC
low complexity region	324	343	N/A	INTRINSIC
low complexity region	457	470	N/A	INTRINSIC
ANK	658	688	6.36e-3	SMART
ANK	692	725	7.29e2	SMART
ANK	730	759	4.97e-5	SMART
ANK	763	793	3.85e-2	SMART
ANK	797	825	1.06e1	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000034728
AA Change: K1995E

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000034728
Gene: ENSMUSG00000032198
AA Change: K1995E

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

probably benign
Transcript: ENSMUST00000213691

Predicted Effect

probably benign
Transcript: ENSMUST00000215729

Predicted Effect

probably benign
Transcript: ENSMUST00000216008

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000217310

Predicted Effect

probably benign
Transcript: ENSMUST00000217336
AA Change: K2026E

PolyPhen 2 Score 0.401 (Sensitivity: 0.89; Specificity: 0.89)

Meta Mutation Damage Score

0.1272

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.6%
20x: 95.9%

Validation Efficiency

100% (40/40)

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: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd6	T	A	14: 8,045,603	V173D	probably benign	Het
Agbl3	G	T	6: 34,799,729	S385I	probably damaging	Het
Ahcyl2	A	G	6: 29,891,261	I455V	probably benign	Het
Bpifb2	T	A	2: 153,891,951	D404E	probably benign	Het
Ctbp1	A	G	5: 33,267,045		probably benign	Het
D130040H23Rik	T	A	8: 69,302,370	C160S	probably damaging	Het
Dapk1	T	C	13: 60,760,689	W1039R	probably damaging	Het
Entpd3	A	G	9: 120,562,002	E440G	probably benign	Het
Gm20939	G	A	17: 94,876,710	R262K	possibly damaging	Het
Gm9637	A	T	14: 19,402,398		noncoding transcript	Het
Gm9847	T	C	12: 14,495,147		noncoding transcript	Het
H2-Q6	A	G	17: 35,425,781	E182G	probably damaging	Het
Has1	T	C	17: 17,847,560	Y356C	probably damaging	Het
Hivep2	A	G	10: 14,130,357	T900A	probably benign	Het
Kcnd3	C	T	3: 105,658,766	A421V	probably damaging	Het
Klhl35	A	G	7: 99,470,241	D311G	probably benign	Het
Metap2	A	T	10: 93,870,164	L252*	probably null	Het
Mrgpra9	T	A	7: 47,235,779	I47F	probably damaging	Het
Muc5b	T	C	7: 141,864,126	L3603P	possibly damaging	Het
Neurl4	A	G	11: 69,904,033	H323R	probably damaging	Het
Oas1d	A	T	5: 120,914,986	I35F	probably damaging	Het
Olfr1143	C	T	2: 87,803,052	S221F	possibly damaging	Het
Olfr1152	T	A	2: 87,868,401	S137T	probably damaging	Het
Olfr1232	G	A	2: 89,325,754	T142M	probably benign	Het
Olfr1255	T	A	2: 89,817,051	S242T	probably damaging	Het
Orc6	T	A	8: 85,299,984	S19R	probably benign	Het
Pcdh12	T	C	18: 38,281,237	E945G	probably damaging	Het
Plekha6	A	G	1: 133,273,979	M377V	probably benign	Het
Psmd1	T	A	1: 86,132,715	V828D	probably damaging	Het
Rbbp5	T	C	1: 132,492,587	V59A	probably damaging	Het
Secisbp2l	C	T	2: 125,740,737	G933D	possibly damaging	Het
Tas2r130	A	G	6: 131,630,829	M1T	probably null	Het
Top2b	T	G	14: 16,409,189	I777M	probably damaging	Het
Trgv2	T	C	13: 19,336,841	T28A	possibly damaging	Het
Trpc4ap	T	A	2: 155,643,435	I448F	probably damaging	Het
Ttc21b	C	T	2: 66,252,233		probably null	Het
Txndc5	T	C	13: 38,523,405	K99E	probably benign	Het
Uvrag	A	G	7: 98,979,712	Y383H	probably damaging	Het
Vim	T	C	2: 13,578,752		probably null	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
R1494:Dock6	UTSW	9	21814742	missense	probably benign	0.34
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
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'- AAGAGGGATGTGCATGTGTC -3'
(R):5'- TCCAGATGCCAAGATGCTGC -3'

Sequencing Primer
(F):5'- TCTGGGGTGATCATACACAGGC -3'
(R):5'- CCAAGATGCTGCAGATGGTTCTC -3'

Posted On

2015-04-02