Mutagenetix > Incidental Mutation

Incidental Mutation 'R5353:Dock6'

423911

Institutional Source

Beutler Lab

Gene Symbol

Dock6

Ensembl Gene

ENSMUSG00000032198

Gene Name

dedicator of cytokinesis 6

Synonyms

4931431C02Rik, 2410095B20Rik, C330023D02Rik

MMRRC Submission

042932-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.482) question?

Stock #

R5353 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

21711476-21764006 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 21726082 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Glutamine at position 1409 (H1409Q)

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: H1409Q

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000034728
Gene: ENSMUSG00000032198
AA Change: H1409Q

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: H173Q

Predicted Effect

probably benign
Transcript: ENSMUST00000217336
AA Change: H1440Q

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.3%
3x: 98.8%
10x: 97.6%
20x: 96.2%

Validation Efficiency

100% (59/59)

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ablim3	A	G	18: 61,934,470 (GRCm39)	S649P	probably damaging	Het
Adam22	C	A	5: 8,140,182 (GRCm39)	G202W	probably damaging	Het
Adamts1	T	A	16: 85,599,496 (GRCm39)	M35L	probably benign	Het
Adgrg3	A	T	8: 95,762,556 (GRCm39)	H202L	probably damaging	Het
Anln	G	T	9: 22,271,813 (GRCm39)	R681S	probably damaging	Het
Aprt	A	T	8: 123,302,147 (GRCm39)	M1K	probably null	Het
Arid3b	G	T	9: 57,702,320 (GRCm39)		probably null	Het
Cbl	A	G	9: 44,084,620 (GRCm39)	F172L	probably damaging	Het
Cd109	G	T	9: 78,617,521 (GRCm39)	V1340L	probably damaging	Het
Cdc45	C	T	16: 18,614,647 (GRCm39)	R205H	probably damaging	Het
Chrm3	A	G	13: 9,928,593 (GRCm39)	Y148H	probably damaging	Het
Cog7	A	C	7: 121,540,470 (GRCm39)		probably null	Het
Cpsf1	A	T	15: 76,486,771 (GRCm39)	I255N	probably damaging	Het
Crebzf	G	A	7: 90,092,622 (GRCm39)	G134R	probably damaging	Het
Crybg1	T	C	10: 43,849,661 (GRCm39)	S1705G	probably damaging	Het
Fank1	A	G	7: 133,478,632 (GRCm39)	D232G	probably damaging	Het
Fat1	G	T	8: 45,489,168 (GRCm39)	V3480L	probably benign	Het
Fchsd1	C	T	18: 38,092,926 (GRCm39)		probably benign	Het
Fmn2	G	T	1: 174,330,572 (GRCm39)	G321W	unknown	Het
Greb1	A	T	12: 16,738,567 (GRCm39)	Y1465*	probably null	Het
Hdac9	G	A	12: 34,443,392 (GRCm39)	Q330*	probably null	Het
Kcnt2	C	T	1: 140,354,639 (GRCm39)	T298I	probably damaging	Het
Knl1	A	G	2: 118,901,464 (GRCm39)	D1055G	probably benign	Het
Mroh2b	T	C	15: 4,946,660 (GRCm39)	S487P	probably damaging	Het
Naa38	G	A	11: 69,287,408 (GRCm39)	V110I	probably benign	Het
Nkd2	T	C	13: 73,969,557 (GRCm39)	H303R	probably damaging	Het
Nr1d2	A	G	14: 18,222,125 (GRCm38)	C49R	probably benign	Het
Or4c111	A	G	2: 88,844,099 (GRCm39)	V103A	probably benign	Het
Or52b2	A	G	7: 104,986,324 (GRCm39)	Y200H	probably damaging	Het
Ovch2	T	A	7: 107,393,631 (GRCm39)	E165V	probably damaging	Het
Phyh	A	T	2: 4,947,012 (GRCm39)		probably benign	Het
Pik3r4	G	A	9: 105,545,137 (GRCm39)		probably null	Het
Ppip5k1	A	C	2: 121,142,201 (GRCm39)	V1416G	probably benign	Het
Ppm1b	T	C	17: 85,301,537 (GRCm39)	V139A	probably benign	Het
Ppp1r12a	T	G	10: 108,097,077 (GRCm39)		probably null	Het
Pramel20	A	G	4: 143,297,807 (GRCm39)	T76A	probably benign	Het
Psmc5	G	T	11: 106,152,327 (GRCm39)	A115S	probably damaging	Het
Ptpn5	T	A	7: 46,731,642 (GRCm39)	E409V	probably benign	Het
Ptprg	T	A	14: 11,554,235 (GRCm38)		probably benign	Het
Qrich1	G	T	9: 108,422,164 (GRCm39)	V593F	probably damaging	Het
Rbbp9	T	C	2: 144,385,741 (GRCm39)	I175V	probably benign	Het
Selenot	T	C	3: 58,493,387 (GRCm39)	F88S	possibly damaging	Het
Sp110	C	T	1: 85,516,841 (GRCm39)	E219K	possibly damaging	Het
Spred2	A	G	11: 19,968,155 (GRCm39)	D208G	possibly damaging	Het
Surf1	T	C	2: 26,804,204 (GRCm39)	T197A	probably benign	Het
Taco1	G	A	11: 105,963,539 (GRCm39)		probably null	Het
Tas2r109	A	G	6: 132,957,594 (GRCm39)	V112A	possibly damaging	Het
Tpr	C	T	1: 150,321,675 (GRCm39)	R3C	probably damaging	Het
Uggt2	A	G	14: 119,319,182 (GRCm39)	I280T	probably benign	Het
Yipf2	A	G	9: 21,503,228 (GRCm39)	Y80H	possibly damaging	Het
Zscan12	T	C	13: 21,548,178 (GRCm39)	V120A	possibly damaging	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
R0839:Dock6	UTSW	9	21,729,188 (GRCm39)	missense	probably benign	0.01
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
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'- ACTTTCAGCACGGCACTCAG -3'
(R):5'- TTCTGACCGTGACATGTGGG -3'

Sequencing Primer
(F):5'- CTTCACGGGTTAGAAATCCATGCG -3'
(R):5'- CATGTGGGCAAGGAAATTCC -3'

Posted On

2016-08-04