Mutagenetix > Incidental Mutation

Incidental Mutation 'R6744:Dock6'

532791

Institutional Source

Beutler Lab

Gene Symbol

Dock6

Ensembl Gene

ENSMUSG00000032198

Gene Name

dedicator of cytokinesis 6

Synonyms

4931431C02Rik, 2410095B20Rik, C330023D02Rik

MMRRC Submission

044861-MU

Accession Numbers

Essential gene?

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

Stock #

R6744 (G1)

Quality Score

154.008

Status

Validated

Chromosome

Chromosomal Location

21711476-21764006 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 21742770 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 775 (H775R)

Ref Sequence

ENSEMBL: ENSMUSP00000034728 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034728] [ENSMUST00000058777] [ENSMUST00000217336]

AlphaFold

Q8VDR9

Predicted Effect

probably damaging
Transcript: ENSMUST00000034728
AA Change: H775R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000034728
Gene: ENSMUSG00000032198
AA Change: H775R

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

Predicted Effect

unknown
Transcript: ENSMUST00000216626
AA Change: H224R

Predicted Effect

probably damaging
Transcript: ENSMUST00000217336
AA Change: H775R

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

Meta Mutation Damage Score

0.4517

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.7%
20x: 96.6%

Validation Efficiency

98% (47/48)

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: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ahi1	T	A	10: 20,841,466 (GRCm39)	L251H	probably damaging	Het
Alk	A	T	17: 72,910,077 (GRCm39)	S210T	probably benign	Het
Arap2	A	G	5: 62,906,281 (GRCm39)	F246S	probably damaging	Het
Atad5	T	A	11: 80,024,858 (GRCm39)	N1749K	probably benign	Het
C87436	T	A	6: 86,423,046 (GRCm39)	S207T	probably damaging	Het
C8b	C	T	4: 104,631,543 (GRCm39)	R53W	probably damaging	Het
Catsperg2	A	G	7: 29,409,244 (GRCm39)	V619A	probably benign	Het
Cdc73	G	A	1: 143,577,887 (GRCm39)		probably benign	Het
Cdh4	C	A	2: 179,489,180 (GRCm39)	H297Q	possibly damaging	Het
Col3a1	G	T	1: 45,377,782 (GRCm39)		probably benign	Het
Crybg2	A	G	4: 133,816,207 (GRCm39)	N1328S	probably damaging	Het
Ctnnb1	T	A	9: 120,782,025 (GRCm39)	V346E	probably damaging	Het
Ctns	C	T	11: 73,076,111 (GRCm39)	G308E	probably damaging	Het
Cxxc4	AGGCGGCGGCGGCGGCGGCGGCGGC	AGGCGGCGGCGGCGGCGGCGGCGGCGGC	3: 133,945,891 (GRCm39)		probably benign	Het
Dnah6	A	G	6: 73,014,532 (GRCm39)	I3685T	probably damaging	Het
Eef1ece2	A	T	16: 20,449,116 (GRCm39)	K165N	probably damaging	Het
Fbxl3	A	T	14: 103,320,730 (GRCm39)	V239D	probably damaging	Het
Gh	T	A	11: 106,192,230 (GRCm39)	K55*	probably null	Het
Havcr2	T	G	11: 46,345,887 (GRCm39)		probably null	Het
Kcnq2	T	A	2: 180,727,099 (GRCm39)	H576L	possibly damaging	Het
Kifap3	A	G	1: 163,676,239 (GRCm39)	N398S	probably benign	Het
Lama5	G	A	2: 179,833,455 (GRCm39)	P1519L	probably damaging	Het
Mblac1	A	G	5: 138,192,682 (GRCm39)	E8G	possibly damaging	Het
Mtor	C	T	4: 148,543,112 (GRCm39)	T290I	probably benign	Het
Nceh1	T	C	3: 27,295,938 (GRCm39)	Y400H	probably damaging	Het
Nek9	A	G	12: 85,376,703 (GRCm39)	V226A	probably benign	Het
Or10a3	T	C	7: 108,480,037 (GRCm39)	T259A	probably damaging	Het
Or10al3	T	A	17: 38,012,336 (GRCm39)	Y258*	probably null	Het
Or2d4	A	G	7: 106,543,741 (GRCm39)	S156P	probably damaging	Het
Otud4	C	A	8: 80,400,407 (GRCm39)	Y1039*	probably null	Het
Pax4	T	C	6: 28,442,396 (GRCm39)	H331R	probably benign	Het
Piezo2	A	T	18: 63,165,960 (GRCm39)	Y2090*	probably null	Het
Ppp1r12a	T	A	10: 108,066,395 (GRCm39)	H195Q	probably damaging	Het
Ppp6r2	A	G	15: 89,140,864 (GRCm39)		probably null	Het
Prodh	A	G	16: 17,897,064 (GRCm39)	V23A	probably benign	Het
Psg20	G	A	7: 18,408,505 (GRCm39)	T405I	probably damaging	Het
Ptprf	T	C	4: 118,093,562 (GRCm39)	D360G	probably benign	Het
Qrfprl	T	A	6: 65,418,324 (GRCm39)	M164K	possibly damaging	Het
Rad18	A	T	6: 112,652,745 (GRCm39)	M284K	probably damaging	Het
Rgs17	T	C	10: 5,792,567 (GRCm39)	K60E	possibly damaging	Het
Sec31a	G	T	5: 100,540,358 (GRCm39)	Q39K	possibly damaging	Het
Slc22a22	G	T	15: 57,117,668 (GRCm39)	T291K	possibly damaging	Het
Sult2a6	C	T	7: 13,956,470 (GRCm39)	E264K	probably damaging	Het
Syne2	C	T	12: 76,121,221 (GRCm39)	R5896C	probably damaging	Het
Tctn1	A	T	5: 122,402,209 (GRCm39)	V75D	probably damaging	Het
Tmem214	A	G	5: 31,031,372 (GRCm39)	K409E	probably damaging	Het
Vcan	T	C	13: 89,853,301 (GRCm39)	Y553C	probably damaging	Het
Vmn1r49	C	T	6: 90,049,184 (GRCm39)	V273I	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
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
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
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'- TTAAAGGACCTGCACTTGGG -3'
(R):5'- AGTCCATCTGACCCAGACTG -3'

Sequencing Primer
(F):5'- ACTTGGGTCCCCATCATGTGG -3'
(R):5'- AGGGGACACTCCATTCTGC -3'

Posted On

2018-08-29