Mutagenetix > Incidental Mutation

Incidental Mutation 'R8828:Dock6'

673616

Institutional Source

Beutler Lab

Gene Symbol

Dock6

Ensembl Gene

ENSMUSG00000032198

Gene Name

dedicator of cytokinesis 6

Synonyms

4931431C02Rik, 2410095B20Rik, C330023D02Rik

MMRRC Submission

068730-MU

Accession Numbers

Essential gene?

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

Stock #

R8828 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

21711476-21764006 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 21757797 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 102 (D102E)

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: D102E

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

SMART Domains

Protein: ENSMUSP00000034728
Gene: ENSMUSG00000032198
AA Change: D102E

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: ENSMUST00000217336
AA Change: D102E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abi3bp	A	T	16: 56,507,455 (GRCm39)	Y1091F	probably damaging	Het
Arl8b	A	G	6: 108,792,250 (GRCm39)	I104V	probably benign	Het
Asb2	C	A	12: 103,304,457 (GRCm39)	G16C	probably benign	Het
Bptf	T	C	11: 106,945,836 (GRCm39)	S2468G	probably damaging	Het
Capns1	T	A	7: 29,889,963 (GRCm39)	D182V	probably damaging	Het
Cct5	T	C	15: 31,594,658 (GRCm39)	H182R	possibly damaging	Het
Cd200	G	A	16: 45,215,157 (GRCm39)	R165C	probably benign	Het
Chd3	C	T	11: 69,247,097 (GRCm39)	V1024I	probably damaging	Het
Chd8	CAGGGTCTGCCCTCATGGTATTGTATTTCTCATAGCCTAAAAGAACAAGGG	C	14: 52,448,037 (GRCm39)		probably null	Het
Csmd1	T	C	8: 16,048,794 (GRCm39)	S2303G	probably benign	Het
Ctsl	A	G	13: 64,514,314 (GRCm39)	S255P	probably damaging	Het
Dclre1c	T	G	2: 3,444,714 (GRCm39)	N268K	possibly damaging	Het
Dock10	T	C	1: 80,521,134 (GRCm39)	D1158G	probably damaging	Het
Dvl3	T	A	16: 20,344,495 (GRCm39)	D290E	probably damaging	Het
Fam72a	T	A	1: 131,458,461 (GRCm39)	C74*	probably null	Het
Gnrh1	T	A	14: 67,985,334 (GRCm39)	L73Q	probably damaging	Het
Grina	T	A	15: 76,132,497 (GRCm39)	S115T	probably damaging	Het
Grm3	A	T	5: 9,554,725 (GRCm39)	S856T	probably benign	Het
Hars1	C	A	18: 36,899,996 (GRCm39)	R490L	possibly damaging	Het
Ide	T	A	19: 37,292,241 (GRCm39)	K318I		Het
Immt	C	A	6: 71,829,762 (GRCm39)	S156*	probably null	Het
Iqcd	A	G	5: 120,738,232 (GRCm39)	I17V	possibly damaging	Het
Klhdc1	T	C	12: 69,298,808 (GRCm39)	V131A	probably damaging	Het
Klk6	C	A	7: 43,478,061 (GRCm39)	N144K		Het
Klk6	T	C	7: 43,478,062 (GRCm39)	C145R	probably damaging	Het
Lrfn2	A	T	17: 49,404,132 (GRCm39)	T752S	probably damaging	Het
Lrguk	A	C	6: 34,080,572 (GRCm39)	Q1269P	unknown	Het
Lrwd1	G	T	5: 136,164,787 (GRCm39)	Q7K	probably benign	Het
Macf1	A	T	4: 123,302,204 (GRCm39)	M766K	probably benign	Het
Myo3a	A	T	2: 22,245,864 (GRCm39)	T4S	probably benign	Het
Neb	T	C	2: 52,084,438 (GRCm39)	Y5587C	probably damaging	Het
Nf1	A	T	11: 79,286,679 (GRCm39)		probably null	Het
Npepps	G	T	11: 97,131,823 (GRCm39)	R344S	probably damaging	Het
Nudt16l2	C	T	9: 105,021,648 (GRCm39)	D133N	probably damaging	Het
Or52p1	A	T	7: 104,267,486 (GRCm39)	Y200F	probably damaging	Het
Or5v1b	A	G	17: 37,841,333 (GRCm39)	N155S	probably damaging	Het
Pcnx1	T	A	12: 82,042,597 (GRCm39)	W2286R	probably damaging	Het
Ppm1g	A	T	5: 31,365,768 (GRCm39)	N51K	probably benign	Het
Ppp1r13b	T	C	12: 111,799,981 (GRCm39)	K722E	probably damaging	Het
Prim1	A	G	10: 127,859,761 (GRCm39)	S318G	probably damaging	Het
Prl4a1	T	C	13: 28,207,307 (GRCm39)	Y194H	probably damaging	Het
Prl7c1	A	T	13: 27,957,854 (GRCm39)	D195E	probably benign	Het
Psmb2	A	G	4: 126,603,330 (GRCm39)	D186G	probably benign	Het
Ptprq	A	G	10: 107,482,513 (GRCm39)	V1020A	probably benign	Het
Scgb2b20	T	C	7: 33,065,689 (GRCm39)	T13A	unknown	Het
Scly	C	A	1: 91,244,830 (GRCm39)	H310Q	possibly damaging	Het
Sdccag8	G	A	1: 176,783,473 (GRCm39)	E661K	probably damaging	Het
Sema4f	G	A	6: 82,894,873 (GRCm39)	L441F	probably benign	Het
Sema4f	A	C	6: 82,894,874 (GRCm39)	Y440*	probably null	Het
Tmem262	C	T	19: 6,130,118 (GRCm39)		probably benign	Het
Trim33	A	G	3: 103,236,392 (GRCm39)	T501A	probably damaging	Het
Trio	C	A	15: 27,741,150 (GRCm39)	V2692F	possibly damaging	Het
Ttn	A	T	2: 76,772,774 (GRCm39)	V2453E	unknown	Het
Ttn	G	T	2: 76,541,956 (GRCm39)	R33677S	probably benign	Het
Uaca	T	A	9: 60,778,852 (GRCm39)	S1080T	probably benign	Het
Vav3	T	A	3: 109,555,051 (GRCm39)	C660S	probably benign	Het
Vmn1r229	T	A	17: 21,034,990 (GRCm39)	D78E	probably damaging	Het
Vmn2r73	A	G	7: 85,521,179 (GRCm39)	V263A	probably damaging	Het
Yeats2	A	T	16: 19,969,260 (GRCm39)	D17V	probably benign	Het
Zfp658	T	A	7: 43,222,240 (GRCm39)	W172R	probably benign	Het
Zfp804a	A	C	2: 82,089,459 (GRCm39)	H1096P	possibly damaging	Het
Zkscan14	C	T	5: 145,138,375 (GRCm39)	W37*	probably null	Het
Zmynd15	A	T	11: 70,355,017 (GRCm39)	D468V	probably damaging	Het
Zmynd8	A	T	2: 165,654,466 (GRCm39)	V682E	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
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
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'- GGTGAATGCATGAACCTTCAC -3'
(R):5'- TCACCATGGCCACTGTACTC -3'

Sequencing Primer
(F):5'- TGCATGAACCTTCACAGTTATCAAC -3'
(R):5'- TGGCCACTGTACTCCAATCAGG -3'

Posted On

2021-07-15