Mutagenetix > Incidental Mutation

Incidental Mutation 'R0839:Dock6'

78108

Institutional Source

Beutler Lab

Gene Symbol

Dock6

Ensembl Gene

ENSMUSG00000032198

Gene Name

dedicator of cytokinesis 6

Synonyms

4931431C02Rik, 2410095B20Rik, C330023D02Rik

MMRRC Submission

039018-MU

Accession Numbers

Essential gene?

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

Stock #

R0839 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

21711476-21764006 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 21729188 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 1275 (N1275S)

Ref Sequence

ENSEMBL: ENSMUSP00000149156 (fasta)

Gene Model

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

AlphaFold

Q8VDR9

Predicted Effect

probably benign
Transcript: ENSMUST00000034728
AA Change: N1244S

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000034728
Gene: ENSMUSG00000032198
AA Change: N1244S

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: ENSMUST00000215729
AA Change: N8S

Predicted Effect

probably benign
Transcript: ENSMUST00000217336
AA Change: N1275S

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)

Coding Region Coverage

1x: 99.5%
3x: 99.0%
10x: 97.8%
20x: 96.1%

Validation Efficiency

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
Abca4	G	A	3: 121,920,527 (GRCm39)	V1083M	probably damaging	Het
Aco2	A	G	15: 81,791,736 (GRCm39)		probably null	Het
AI661453	A	T	17: 47,747,752 (GRCm39)	Q8L	probably null	Het
Ankrd42	T	C	7: 92,261,980 (GRCm39)	D295G	possibly damaging	Het
Ccdc73	A	T	2: 104,821,442 (GRCm39)	I464L	probably benign	Het
Cdc5l	A	C	17: 45,704,073 (GRCm39)	M717R	probably benign	Het
Col4a1	G	A	8: 11,271,015 (GRCm39)	P809S	probably damaging	Het
Dctn1	T	C	6: 83,167,459 (GRCm39)	M358T	possibly damaging	Het
Dgkz	A	G	2: 91,765,456 (GRCm39)	S799P	probably benign	Het
Dna2	T	C	10: 62,805,561 (GRCm39)	C933R	probably damaging	Het
Ect2l	A	G	10: 18,017,652 (GRCm39)	I659T	probably benign	Het
Ets1	T	A	9: 32,645,357 (GRCm39)	Y201*	probably null	Het
Gle1	T	A	2: 29,848,462 (GRCm39)	C679S	probably benign	Het
Gm10118	T	G	10: 63,762,643 (GRCm39)		probably benign	Het
Guk1	G	A	11: 59,075,921 (GRCm39)	R146C	probably damaging	Het
H2-Q7	A	G	17: 35,658,688 (GRCm39)	S109G	probably damaging	Het
Igfn1	A	G	1: 135,882,418 (GRCm39)	V2809A	probably damaging	Het
Izumo1	T	A	7: 45,276,536 (GRCm39)	D366E	probably benign	Het
Kctd20	A	T	17: 29,176,872 (GRCm39)	M1L	possibly damaging	Het
Lct	C	T	1: 128,214,346 (GRCm39)	A1809T	probably benign	Het
Manea	T	C	4: 26,327,983 (GRCm39)	I353V	probably damaging	Het
Mybl2	T	C	2: 162,917,688 (GRCm39)	Y65H	probably benign	Het
Myh11	C	T	16: 14,021,042 (GRCm39)	E1744K	probably damaging	Het
Neb	T	C	2: 52,167,560 (GRCm39)	D1922G	probably damaging	Het
Nepro	C	A	16: 44,556,382 (GRCm39)	D513E	probably benign	Het
Nnt	A	T	13: 119,531,192 (GRCm39)	I185K	possibly damaging	Het
Npat	A	T	9: 53,456,480 (GRCm39)	Q17L	probably damaging	Het
Nup155	A	G	15: 8,175,071 (GRCm39)	E956G	possibly damaging	Het
Or1e35	T	A	11: 73,798,138 (GRCm39)	Y60F	probably damaging	Het
Or1x6	A	G	11: 50,939,254 (GRCm39)	I107V	probably benign	Het
Or2a14	T	A	6: 43,130,558 (GRCm39)	F106L	probably benign	Het
Or4q3	A	G	14: 50,583,545 (GRCm39)	V118A	probably damaging	Het
Or8g18	A	T	9: 39,149,146 (GRCm39)	N191K	possibly damaging	Het
Or8g4	A	T	9: 39,661,687 (GRCm39)	I2L	probably benign	Het
Or9e1	G	A	11: 58,732,478 (GRCm39)	M179I	probably benign	Het
Pah	T	C	10: 87,357,924 (GRCm39)	S16P	probably damaging	Het
Pcdh15	C	A	10: 74,462,614 (GRCm39)	P1365Q	probably null	Het
Pds5b	G	T	5: 150,688,427 (GRCm39)	V640F	probably benign	Het
Pgam5	A	T	5: 110,414,996 (GRCm39)	H72Q	probably benign	Het
Plagl2	C	A	2: 153,074,461 (GRCm39)	A147S	probably damaging	Het
Ppfia4	A	T	1: 134,256,545 (GRCm39)	L113Q	probably null	Het
Ppp1r12a	T	C	10: 108,034,722 (GRCm39)	V89A	probably damaging	Het
Ptprc	A	G	1: 138,028,870 (GRCm39)	Y443H	possibly damaging	Het
Ralgapb	T	C	2: 158,315,203 (GRCm39)		probably null	Het
Rgsl1	A	G	1: 153,677,980 (GRCm39)		probably null	Het
Rubcn	A	C	16: 32,647,713 (GRCm39)	I681M	probably damaging	Het
Scaf11	A	G	15: 96,321,434 (GRCm39)	L169S	probably damaging	Het
Scgb1b27	A	G	7: 33,721,276 (GRCm39)	K55E	probably benign	Het
Sos1	A	T	17: 80,741,159 (GRCm39)	I542N	probably damaging	Het
Syf2	T	A	4: 134,663,374 (GRCm39)	V182D	probably damaging	Het
Tapbp	T	C	17: 34,144,717 (GRCm39)	V271A	probably benign	Het
Tmem33	T	A	5: 67,421,651 (GRCm39)	L60Q	probably damaging	Het
Tmf1	A	G	6: 97,153,284 (GRCm39)	V263A	probably damaging	Het
Vps13c	T	C	9: 67,806,020 (GRCm39)	V798A	probably benign	Het
Zfp384	C	A	6: 125,013,631 (GRCm39)	D550E	probably benign	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
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
R3078:Dock6	UTSW	9	21,757,050 (GRCm39)	splice site	probably benign
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'- ATGGTGCTCAACTGTATCTCATGGC -3'
(R):5'- AGCATTCAGGAGGCTGAGACACAC -3'

Sequencing Primer
(F):5'- cctcccacctccatctcc -3'
(R):5'- gctgtcccgttactcactc -3'

Posted On

2013-10-16