Mutagenetix > Incidental Mutation

Incidental Mutation 'R1494:Dock6'

163821

Institutional Source

Beutler Lab

Gene Symbol

Dock6

Ensembl Gene

ENSMUSG00000032198

Gene Name

dedicator of cytokinesis 6

Synonyms

4931431C02Rik, 2410095B20Rik, C330023D02Rik

MMRRC Submission

039545-MU

Accession Numbers

Essential gene?

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

Stock #

R1494 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

21711476-21764006 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 21726038 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 1424 (V1424A)

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: V1424A

PolyPhen 2 Score 0.340 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000034728
Gene: ENSMUSG00000032198
AA Change: V1424A

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: V188A

Predicted Effect

probably benign
Transcript: ENSMUST00000217336
AA Change: V1455A

PolyPhen 2 Score 0.047 (Sensitivity: 0.94; Specificity: 0.83)

Meta Mutation Damage Score

0.0921

Coding Region Coverage

1x: 99.0%
3x: 98.1%
10x: 95.8%
20x: 91.3%

Validation Efficiency

97% (57/59)

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700067P10Rik	A	G	17: 48,400,991 (GRCm39)	E92G	probably benign	Het
Abca13	C	T	11: 9,416,429 (GRCm39)	Q4064*	probably null	Het
Abca14	G	A	7: 119,815,524 (GRCm39)	M257I	probably benign	Het
Acsm2	T	A	7: 119,174,855 (GRCm39)	C207S	probably damaging	Het
Actr3	A	G	1: 125,344,018 (GRCm39)	I67T	probably benign	Het
Adcy7	T	C	8: 89,046,835 (GRCm39)	V606A	probably benign	Het
Ahnak2	G	A	12: 112,751,570 (GRCm39)	S54F	probably damaging	Het
Ano6	T	C	15: 95,870,388 (GRCm39)	S848P	probably damaging	Het
Atg3	C	T	16: 44,992,123 (GRCm39)		probably benign	Het
Atp8b1	T	A	18: 64,697,597 (GRCm39)	S416C	probably damaging	Het
C2cd5	A	G	6: 142,987,072 (GRCm39)		probably benign	Het
Capn11	A	T	17: 45,954,735 (GRCm39)	V134E	probably damaging	Het
Ccnd3	A	G	17: 47,909,033 (GRCm39)		probably null	Het
Chaf1b	T	A	16: 93,684,998 (GRCm39)	V149E	probably damaging	Het
Col5a2	T	A	1: 45,542,074 (GRCm39)	M1L	unknown	Het
Copa	T	C	1: 171,931,694 (GRCm39)	I315T	probably benign	Het
Cyp3a57	A	G	5: 145,318,077 (GRCm39)	M353V	probably damaging	Het
Dcaf6	T	C	1: 165,160,942 (GRCm39)	M828V	probably damaging	Het
Dock2	T	A	11: 34,232,761 (GRCm39)	K1080*	probably null	Het
Foxa1	T	C	12: 57,588,984 (GRCm39)	D412G	probably damaging	Het
Foxp4	G	C	17: 48,191,278 (GRCm39)		probably benign	Het
Galnt9	T	A	5: 110,736,196 (GRCm39)	S171T	probably damaging	Het
Glt6d1	A	G	2: 25,684,260 (GRCm39)	Y249H	probably damaging	Het
Gm37240	A	T	3: 84,434,998 (GRCm39)	Y104N	probably damaging	Het
Gpx8	C	T	13: 113,182,149 (GRCm39)	E95K	possibly damaging	Het
Grm1	T	C	10: 10,565,450 (GRCm39)	T953A	probably benign	Het
Helz	T	C	11: 107,494,889 (GRCm39)		probably benign	Het
Hif3a	T	C	7: 16,788,647 (GRCm39)	Y108C	probably damaging	Het
Kcnj13	A	T	1: 87,316,939 (GRCm39)	L58Q	probably damaging	Het
Mfsd14b	A	T	13: 65,243,485 (GRCm39)	V53D	probably damaging	Het
Mrps7	G	C	11: 115,494,952 (GRCm39)		probably benign	Het
Mug1	G	A	6: 121,856,259 (GRCm39)	G1013D	probably damaging	Het
Or52h7	T	A	7: 104,214,038 (GRCm39)	Y203*	probably null	Het
Or6c8	A	T	10: 128,915,484 (GRCm39)	M116K	probably damaging	Het
Pax6	T	C	2: 105,521,955 (GRCm39)	I19T	probably benign	Het
Pde8b	G	A	13: 95,184,304 (GRCm39)	R416C	probably damaging	Het
Prl2c2	G	C	13: 13,176,786 (GRCm39)	T47R	probably damaging	Het
Pygl	G	A	12: 70,246,504 (GRCm39)	R348W	probably damaging	Het
Ralgapa1	T	A	12: 55,731,309 (GRCm39)	D1874V	probably damaging	Het
Shf	G	A	2: 122,199,163 (GRCm39)	P51S	probably damaging	Het
Sncaip	T	C	18: 53,001,958 (GRCm39)	S160P	probably damaging	Het
Sptbn4	A	G	7: 27,133,719 (GRCm39)	V79A	probably damaging	Het
Sptlc3	A	T	2: 139,431,480 (GRCm39)	Y334F	possibly damaging	Het
Supt16	A	G	14: 52,409,916 (GRCm39)	Y764H	probably benign	Het
Syne3	A	T	12: 104,921,841 (GRCm39)	V438E	possibly damaging	Het
Tagap1	T	C	17: 7,224,210 (GRCm39)	D162G	probably damaging	Het
Terb1	T	C	8: 105,225,122 (GRCm39)		probably benign	Het
Themis3	C	A	17: 66,866,949 (GRCm39)	R97L	probably benign	Het
Tnk1	T	A	11: 69,747,372 (GRCm39)	E86D	possibly damaging	Het
Tnpo3	A	G	6: 29,557,043 (GRCm39)	L53P	probably damaging	Het
Trpc6	G	A	9: 8,658,305 (GRCm39)	R725K	probably benign	Het
Ttll11	T	G	2: 35,685,391 (GRCm39)	T566P	probably damaging	Het
Unc5c	A	T	3: 141,533,310 (GRCm39)	T779S	possibly damaging	Het
Zfp42	A	G	8: 43,748,638 (GRCm39)	C288R	possibly damaging	Het
Zfp763	G	A	17: 33,240,477 (GRCm39)	T52I	probably 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
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'- AACTTTCAGCACGGCACTCAGG -3'
(R):5'- CGTGACATGTGGGCAAGGAAATTC -3'

Sequencing Primer
(F):5'- GCACTCAGGATGCTCTCAC -3'
(R):5'- TAGAGCAGTTTCCAGAGAGCTTC -3'

Posted On

2014-03-28