Mutagenetix > Incidental Mutation

Incidental Mutation 'R5930:Dock6'

460184

Institutional Source

Beutler Lab

Gene Symbol

Dock6

Ensembl Gene

ENSMUSG00000032198

Gene Name

dedicator of cytokinesis 6

Synonyms

2410095B20Rik, C330023D02Rik, 4931431C02Rik

MMRRC Submission

044125-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.530) question?

Stock #

R5930 (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 21824416 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 1012 (V1012A)

Ref Sequence

ENSEMBL: ENSMUSP00000034728 (fasta)

Gene Model

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

AlphaFold

Q8VDR9

Predicted Effect

probably benign
Transcript: ENSMUST00000034728
AA Change: V1012A

PolyPhen 2 Score 0.288 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000034728
Gene: ENSMUSG00000032198
AA Change: V1012A

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

unknown
Transcript: ENSMUST00000216626
AA Change: V457A

Predicted Effect

probably benign
Transcript: ENSMUST00000217336
AA Change: V1043A

PolyPhen 2 Score 0.276 (Sensitivity: 0.91; Specificity: 0.88)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000217515

Meta Mutation Damage Score

0.1649

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.1%
20x: 94.5%

Validation Efficiency

94% (102/109)

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: 97 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrv1	C	T	13: 81,397,451	V5572I	probably benign	Het
AF366264	T	A	8: 13,837,263	D276V	probably benign	Het
Agap1	C	T	1: 89,843,096	T656I	probably damaging	Het
Als2cl	C	T	9: 110,887,364	R247W	probably damaging	Het
Ankfy1	A	T	11: 72,712,245	R33S	probably benign	Het
Ano5	T	C	7: 51,585,331	F671L	probably damaging	Het
Arhgap26	A	G	18: 39,150,092	M361V	probably damaging	Het
Bckdk	A	G	7: 127,905,973	E175G	probably damaging	Het
Bptf	G	T	11: 107,073,196	T1724K	probably damaging	Het
Btn2a2	T	A	13: 23,486,228	I112F	probably damaging	Het
Cd163l1	C	T	7: 140,230,446	P984S	probably benign	Het
Cln8	T	A	8: 14,896,621	W212R	probably damaging	Het
Cnbd1	T	C	4: 18,886,119	E300G	probably benign	Het
Cnksr3	T	C	10: 7,142,993	I173V	probably benign	Het
Cntn2	T	A	1: 132,523,432	D484V	probably damaging	Het
Cyp4a14	C	A	4: 115,491,410	G319V	probably damaging	Het
Cyp4f37	G	A	17: 32,629,983	R275Q	possibly damaging	Het
Def8	C	T	8: 123,460,070		probably benign	Het
Dnah10	T	C	5: 124,791,791		probably null	Het
Dus3l	T	A	17: 56,769,579	N586K	probably damaging	Het
Dyrk2	T	A	10: 118,860,268	I362F	probably damaging	Het
Dyx1c1	T	C	9: 72,971,998	V356A	probably damaging	Het
Erc2	T	A	14: 27,776,858	D230E	probably damaging	Het
Fam102b	A	T	3: 108,980,152	S265R	probably benign	Het
Fat1	A	G	8: 45,044,036	H4186R	probably benign	Het
Fbxo44	A	G	4: 148,156,595	F179S	probably damaging	Het
Fech	A	G	18: 64,478,649		probably null	Het
Fer1l5	T	A	1: 36,385,173	C289*	probably null	Het
Fhl5	T	A	4: 25,214,756	D7V	probably benign	Het
Flvcr1	G	T	1: 191,009,551	T514K	probably damaging	Het
Fmo1	A	T	1: 162,839,616		probably null	Het
Gabra6	G	A	11: 42,307,441	T384M	probably benign	Het
Gli3	A	G	13: 15,548,625	Y117C	probably damaging	Het
Gnao1	A	G	8: 93,896,245	D59G	probably benign	Het
Gria2	T	C	3: 80,707,249	I495V	possibly damaging	Het
Hnf1b	C	A	11: 83,863,985	H161Q	probably benign	Het
Itga8	T	A	2: 12,230,208	D413V	possibly damaging	Het
Itpr3	A	T	17: 27,110,921	Q1563L	possibly damaging	Het
Kctd16	A	G	18: 40,530,829	N337S	probably benign	Het
Klra4	C	T	6: 130,053,053	V190M	possibly damaging	Het
Krtap4-9	T	A	11: 99,785,636		probably benign	Het
L3mbtl1	GGCCG	GG	2: 162,967,336		probably benign	Het
Mchr1	T	C	15: 81,237,843	F265L	probably damaging	Het
Megf8	T	A	7: 25,326,441	Y83*	probably null	Het
Mettl18	A	G	1: 163,997,177	M356V	probably null	Het
Mrm1	G	A	11: 84,819,192	R61W	probably damaging	Het
Muc4	A	T	16: 32,751,705	T528S	probably benign	Het
Myef2	A	T	2: 125,095,731	L530*	probably null	Het
Nhlrc4	T	C	17: 25,943,719	E18G	probably benign	Het
Nisch	C	T	14: 31,173,145	V1065I	probably benign	Het
Nlgn2	C	T	11: 69,834,149	R97H	probably damaging	Het
Nos2	T	C	11: 78,937,915	L321S	probably damaging	Het
Oaz3	T	C	3: 94,436,410	M49V	possibly damaging	Het
Olfm5	A	G	7: 104,154,155	V367A	probably damaging	Het
Olfr130	C	A	17: 38,067,750	A193D	probably benign	Het
Olfr1335	C	T	4: 118,809,378	R162H	probably benign	Het
Olfr564	A	T	7: 102,804,274	R265S	probably damaging	Het
Olfr742	C	A	14: 50,515,792	A196D	probably benign	Het
Olfr77	A	G	9: 19,920,910	K234E	probably damaging	Het
Omd	C	T	13: 49,589,636	P54L	possibly damaging	Het
Pard3b	T	A	1: 61,768,130		probably benign	Het
Pcdhb18	A	C	18: 37,491,935	I773L	possibly damaging	Het
Pde11a	T	C	2: 76,139,831		probably null	Het
Pfkfb4	A	C	9: 109,030,394		probably benign	Het
Phb2	T	G	6: 124,715,649	I260S	probably damaging	Het
Pkd1l1	G	A	11: 8,958,969	T345I	unknown	Het
Pla2g6	T	C	15: 79,303,528		probably benign	Het
Pou4f2	G	A	8: 78,436,391	S5F	unknown	Het
Ppp1r9a	A	T	6: 5,157,002		probably null	Het
Pramel5	A	G	4: 144,272,983	I178T	probably benign	Het
Prom2	C	T	2: 127,530,133	W745*	probably null	Het
Pros1	T	A	16: 62,928,061	N632K	probably damaging	Het
Rab4b	A	G	7: 27,174,502	I117T	probably benign	Het
Rbm25	T	A	12: 83,677,866	H796Q	possibly damaging	Het
Rnf151	A	T	17: 24,718,030		probably null	Het
Rps6ka1	A	T	4: 133,871,571	L97I	probably damaging	Het
Sergef	T	A	7: 46,443,464	T374S	probably benign	Het
Sh3rf3	G	T	10: 59,130,986	G717C	probably damaging	Het
Slc29a4	C	T	5: 142,721,402	T500I	possibly damaging	Het
Smc1b	T	A	15: 85,086,121	D977V	probably damaging	Het
Spata31d1d	C	T	13: 59,727,015	C902Y	probably benign	Het
St14	A	T	9: 31,103,760	V314D	probably damaging	Het
Stat3	A	T	11: 100,893,670	I602N	possibly damaging	Het
Stx4a	T	A	7: 127,846,489	I189N	probably damaging	Het
Tacc1	A	G	8: 25,182,199	S338P	probably benign	Het
Tcirg1	T	A	19: 3,902,424	T315S	possibly damaging	Het
Tenm4	A	T	7: 96,854,719	N1295I	probably damaging	Het
Tm7sf3	T	C	6: 146,603,911	K516E	possibly damaging	Het
Tmem198b	T	C	10: 128,801,454	E272G	possibly damaging	Het
Tnip3	A	G	6: 65,605,953	Q237R	probably damaging	Het
Trim15	C	T	17: 36,862,360		probably null	Het
Trim30a	T	A	7: 104,421,450	N252I	possibly damaging	Het
Ttc39a	A	G	4: 109,430,878	E227G	probably benign	Het
Ttll13	A	G	7: 80,253,166	E194G	probably damaging	Het
Upf1	G	A	8: 70,344,262	T107I	probably benign	Het
Vac14	A	G	8: 110,710,349	I565V	probably damaging	Het
Zcchc14	A	T	8: 121,611,358		probably benign	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
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
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
R8560:Dock6	UTSW	9	21802836	missense	probably benign	0.00
R8828:Dock6	UTSW	9	21846501	missense	probably benign
R9090:Dock6	UTSW	9	21841500	missense	possibly damaging	0.75
R9221:Dock6	UTSW	9	21809857	missense	possibly damaging	0.77
R9271:Dock6	UTSW	9	21841500	missense	possibly damaging	0.75
R9301:Dock6	UTSW	9	21817815	missense	probably benign
R9308:Dock6	UTSW	9	21817448	nonsense	probably null
R9476:Dock6	UTSW	9	21813525	missense	probably damaging	1.00
R9526:Dock6	UTSW	9	21802506	nonsense	probably null
R9544:Dock6	UTSW	9	21821534	nonsense	probably null
R9716:Dock6	UTSW	9	21831122	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- AGCTGTGAATCTGCCTCAGG -3'
(R):5'- CCATCAATGTGTCCTAAGCTCC -3'

Sequencing Primer
(F):5'- TCTAAAACCGCCTTGGGAAG -3'
(R):5'- AATGTGTCCTAAGCTCCTCCCAC -3'

Posted On

2017-02-28