Mutagenetix > Incidental Mutation

Incidental Mutation 'R8213:Dock6'

636263

Institutional Source

Beutler Lab

Gene Symbol

Dock6

Ensembl Gene

ENSMUSG00000032198

Gene Name

dedicator of cytokinesis 6

Synonyms

2410095B20Rik, C330023D02Rik, 4931431C02Rik

MMRRC Submission

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.530) question?

Stock #

R8213 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

21799860-21852635 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 21831444 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 785 (V785A)

Ref Sequence

ENSEMBL: ENSMUSP00000034728 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034728] [ENSMUST00000058777]

AlphaFold

Q8VDR9

Predicted Effect

possibly damaging
Transcript: ENSMUST00000034728
AA Change: V785A

PolyPhen 2 Score 0.773 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000034728
Gene: ENSMUSG00000032198
AA Change: V785A

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: ENSMUST00000058777

SMART Domains

Protein: ENSMUSP00000058951
Gene: ENSMUSG00000047822

Domain	Start	End	E-Value	Type
low complexity region	171	191	N/A	INTRINSIC

Coding Region Coverage

1x: 99.9%
3x: 99.8%
10x: 99.4%
20x: 98.1%

Validation Efficiency

98% (65/66)

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A1bg	T	C	15: 60,919,756	Y277C	probably damaging	Het
Acss1	T	A	2: 150,619,710	D651V	possibly damaging	Het
Aktip	G	T	8: 91,124,866	P243H	possibly damaging	Het
Arl11	T	G	14: 61,311,265	S175A	probably benign	Het
Aup1	A	G	6: 83,054,607		probably benign	Het
Avil	A	T	10: 127,008,321	I250F	probably damaging	Het
Btnl6	A	T	17: 34,508,883		probably null	Het
C77080	A	T	4: 129,221,459	V1070D	possibly damaging	Het
Ccdc7b	C	A	8: 129,178,291	Q137K	probably benign	Het
Cdk11b	G	A	4: 155,639,881	E319K	unknown	Het
Chka	A	C	19: 3,885,882	E196A	probably damaging	Het
Depdc5	C	T	5: 32,937,637	R753C	probably damaging	Het
Dhx57	T	A	17: 80,275,156	D340V	possibly damaging	Het
Dicer1	A	T	12: 104,702,693	D1243E	probably benign	Het
Dnajb9	A	T	12: 44,207,133	L164M	probably benign	Het
Efcab5	T	C	11: 77,116,071	Y909C	probably damaging	Het
Erp44	A	T	4: 48,208,783	S226T	probably benign	Het
Fgd6	A	T	10: 94,044,052	D256V	probably benign	Het
Fhl5	A	T	4: 25,207,113	Y218*	probably null	Het
Filip1	C	A	9: 79,818,092	A1082S	probably benign	Het
Gm13088	T	A	4: 143,654,185	M423L	probably benign	Het
Gm13128	A	T	4: 144,330,460	D71V	probably benign	Het
Heatr5a	G	A	12: 51,891,443	T1484M	probably damaging	Het
Herc1	G	T	9: 66,450,888	R2417L	probably damaging	Het
Hnrnpr	A	G	4: 136,317,175		probably benign	Het
Igsf5	A	T	16: 96,372,988	I73F	probably damaging	Het
Il17ra	T	C	6: 120,473,034	V91A	probably benign	Het
Inpp5f	A	G	7: 128,679,805	D510G	probably damaging	Het
Kbtbd3	A	G	9: 4,331,269	K548E	probably damaging	Het
Kdm5d	T	A	Y: 941,515	C1239S	probably damaging	Het
Mamdc4	G	A	2: 25,566,356	T709M	probably benign	Het
Mybbp1a	T	A	11: 72,444,721	Y353N	probably damaging	Het
Nepn	A	T	10: 52,391,759	E40D	probably benign	Het
Npat	G	T	9: 53,570,570	E1193*	probably null	Het
Nrde2	G	A	12: 100,131,003	S846L	probably benign	Het
Nup205	T	C	6: 35,225,203	V1290A	probably benign	Het
Olfr1009	T	A	2: 85,721,501	L32Q	probably null	Het
Olfr1424	A	G	19: 12,059,092	V220A	probably benign	Het
Olfr517	C	A	7: 108,868,519	V212L	probably benign	Het
Pde6a	A	T	18: 61,220,696	K31M	possibly damaging	Het
Pms2	C	T	5: 143,914,771	R169C	probably damaging	Het
Polr2g	A	T	19: 8,798,257	L30Q	probably damaging	Het
Prdm15	T	A	16: 97,807,060	H679L	probably damaging	Het
Prl4a1	T	G	13: 28,023,386	Y214*	probably null	Het
Prlr	C	T	15: 10,329,242	T601M	possibly damaging	Het
Psen2	A	C	1: 180,245,691	S22A	probably benign	Het
Ralgapa1	C	A	12: 55,722,914	R764L	probably damaging	Het
Scgb2b11	T	C	7: 32,209,408	E89G	probably damaging	Het
Serpina10	T	C	12: 103,628,277	I228V	probably benign	Het
Serpinb1a	T	A	13: 32,842,999	H320L	probably damaging	Het
Sesn2	C	A	4: 132,498,053	Q267H	possibly damaging	Het
Sgsm1	A	T	5: 113,251,011	W1019R	probably damaging	Het
Sqle	A	G	15: 59,321,302		probably null	Het
Syt14	T	C	1: 192,986,829	M39V	probably benign	Het
Tgm7	A	G	2: 121,101,064	V206A	probably damaging	Het
Thbs4	T	C	13: 92,760,586		probably null	Het
Trpv1	T	C	11: 73,254,251	F721S	probably damaging	Het
Ttll10	A	T	4: 156,036,234	M433K	probably benign	Het
Vmn1r216	T	C	13: 23,099,525	I126T	probably benign	Het
Vmn2r108	G	A	17: 20,470,088	S494F	probably benign	Het
Vwa3b	C	T	1: 37,128,939	A603V	probably benign	Het
Xirp2	T	A	2: 67,476,866	N19K	probably damaging	Het
Zfp397	T	A	18: 23,960,722	N421K	probably damaging	Het
Zscan5b	C	T	7: 6,233,947	P232S	possibly 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
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
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
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'- GTCAAGTTCCACAGCCCAAG -3'
(R):5'- CTGGTACATGTTCTAGAGGAAGGG -3'

Sequencing Primer
(F):5'- CCCATTCATTTTCCAGAGGAGGG -3'
(R):5'- AAGGGATCTTTCCGTTCCGAC -3'

Posted On

2020-07-13