Mutagenetix > Incidental Mutation

Incidental Mutation 'R6981:Dock6'

542685

Institutional Source

Beutler Lab

Gene Symbol

Dock6

Ensembl Gene

ENSMUSG00000032198

Gene Name

dedicator of cytokinesis 6

Synonyms

4931431C02Rik, 2410095B20Rik, C330023D02Rik

MMRRC Submission

045089-MU

Accession Numbers

Essential gene?

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

Stock #

R6981 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

21711476-21764006 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 21756846 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 134 (Y134C)

Ref Sequence

ENSEMBL: ENSMUSP00000034728 (fasta)

Gene Model

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

AlphaFold

Q8VDR9

Predicted Effect

probably damaging
Transcript: ENSMUST00000034728
AA Change: Y134C

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000034728
Gene: ENSMUSG00000032198
AA Change: Y134C

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

possibly damaging
Transcript: ENSMUST00000217336
AA Change: Y134C

PolyPhen 2 Score 0.710 (Sensitivity: 0.86; Specificity: 0.92)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 97.7%

Validation Efficiency

99% (68/69)

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930438A08Rik	G	A	11: 58,184,544 (GRCm39)		probably benign	Het
5031439G07Rik	A	C	15: 84,833,798 (GRCm39)	Y419*	probably null	Het
Abca2	T	A	2: 25,334,151 (GRCm39)	F1809L	probably damaging	Het
Ache	C	T	5: 137,289,940 (GRCm39)	T423I	probably benign	Het
Acvrl1	A	G	15: 101,036,226 (GRCm39)	T395A	probably damaging	Het
Ap3b2	A	G	7: 81,127,741 (GRCm39)	I145T	probably damaging	Het
Arhgef4	A	C	1: 34,761,533 (GRCm39)	Q263P	unknown	Het
Asgr2	C	T	11: 69,987,636 (GRCm39)	L45F	probably damaging	Het
Baiap2l1	T	A	5: 144,222,389 (GRCm39)	Y122F	possibly damaging	Het
C1ra	G	A	6: 124,494,684 (GRCm39)	E316K	probably benign	Het
Car8	A	T	4: 8,185,650 (GRCm39)		probably null	Het
Carns1	T	C	19: 4,220,081 (GRCm39)	T385A	probably benign	Het
Ccdc47	T	C	11: 106,093,563 (GRCm39)	T41A	probably benign	Het
Ccne1	A	T	7: 37,797,998 (GRCm39)		probably benign	Het
Cdh4	C	T	2: 179,439,297 (GRCm39)	T148I	probably benign	Het
Cep85	C	T	4: 133,879,572 (GRCm39)	R392Q	probably damaging	Het
Ces1h	T	C	8: 94,080,123 (GRCm39)	T464A	unknown	Het
Cfl1	T	A	19: 5,542,644 (GRCm39)	S41R	possibly damaging	Het
Crnn	T	C	3: 93,055,442 (GRCm39)	V76A	probably damaging	Het
Cspg4	A	G	9: 56,794,385 (GRCm39)	T707A	probably benign	Het
Dgkh	A	T	14: 78,865,182 (GRCm39)	C53*	probably null	Het
Dhx34	G	T	7: 15,949,255 (GRCm39)	A391E	possibly damaging	Het
Dlx1	C	A	2: 71,362,697 (GRCm39)	N201K	probably benign	Het
Dnah6	T	C	6: 72,998,161 (GRCm39)	E4087G	probably benign	Het
Duox2	A	G	2: 122,121,708 (GRCm39)	V662A	possibly damaging	Het
Dusp12	A	G	1: 170,708,530 (GRCm39)	F12L	probably damaging	Het
Eppk1	T	C	15: 75,995,237 (GRCm39)	E548G	probably benign	Het
Foxj2	A	G	6: 122,819,798 (GRCm39)	D562G	probably benign	Het
Foxj2	A	G	6: 122,805,403 (GRCm39)	I92V	probably damaging	Het
Gm17728	A	G	17: 9,640,991 (GRCm39)	R34G	probably damaging	Het
Gpc6	T	C	14: 117,861,960 (GRCm39)	I292T	probably damaging	Het
Gpr15	T	A	16: 58,538,548 (GRCm39)	K180N	probably benign	Het
Gtf2ird1	G	T	5: 134,412,776 (GRCm39)		probably benign	Het
H2ac12	A	G	13: 22,219,719 (GRCm39)	S2P	probably benign	Het
Hps3	T	A	3: 20,076,984 (GRCm39)	T393S	probably damaging	Het
Hspa1a	A	T	17: 35,189,267 (GRCm39)		probably null	Het
Hydin	A	G	8: 111,257,704 (GRCm39)	E2378G	possibly damaging	Het
Ighv1-18	A	G	12: 114,646,298 (GRCm39)	L102P	probably damaging	Het
Itga5	T	A	15: 103,258,653 (GRCm39)	N814I	probably benign	Het
Kcnb2	T	C	1: 15,780,480 (GRCm39)	S451P	probably damaging	Het
Klhl32	T	G	4: 24,709,030 (GRCm39)	I112L	probably damaging	Het
Knstrn	T	G	2: 118,664,575 (GRCm39)	I47R	possibly damaging	Het
Med23	T	A	10: 24,771,722 (GRCm39)	S581T	possibly damaging	Het
Mgat5	C	T	1: 127,318,588 (GRCm39)	T361I	probably damaging	Het
Nipal3	A	G	4: 135,206,858 (GRCm39)	V112A	probably damaging	Het
Or10a5	T	A	7: 106,635,956 (GRCm39)	V198D	possibly damaging	Het
Or2b2	A	G	13: 21,887,243 (GRCm39)	E24G	probably benign	Het
Or4k41	T	C	2: 111,279,697 (GRCm39)	F71L	probably benign	Het
Or5g27	A	G	2: 85,409,825 (GRCm39)	M81V	probably benign	Het
Paxip1	G	A	5: 27,970,766 (GRCm39)	Q528*	probably null	Het
Proser2	T	C	2: 6,118,801 (GRCm39)	D14G	probably damaging	Het
Rp1	T	G	1: 4,415,878 (GRCm39)	I1745L	probably benign	Het
Rxfp2	G	T	5: 149,972,313 (GRCm39)		probably null	Het
Slc45a1	T	C	4: 150,723,051 (GRCm39)	S278G	possibly damaging	Het
Smurf1	A	G	5: 144,823,179 (GRCm39)	I455T	possibly damaging	Het
Speg	T	C	1: 75,407,557 (GRCm39)	L3188P	probably damaging	Het
Tcaf3	G	T	6: 42,574,059 (GRCm39)	A51D	probably damaging	Het
Tecrl	T	C	5: 83,502,768 (GRCm39)	N12S	possibly damaging	Het
Tmem17	T	A	11: 22,468,508 (GRCm39)	I149N	possibly damaging	Het
Tmem171	A	G	13: 98,828,976 (GRCm39)	V58A	possibly damaging	Het
Ttn	A	G	2: 76,691,521 (GRCm39)		probably benign	Het
Ubqln5	A	G	7: 103,777,808 (GRCm39)	S339P	probably benign	Het
Vmn1r16	T	A	6: 57,300,473 (GRCm39)	I50L	probably benign	Het
Vmn2r103	A	T	17: 20,013,739 (GRCm39)	Y177F	probably benign	Het
Zfp28	C	A	7: 6,397,692 (GRCm39)	T709K	probably damaging	Het
Zfp958	A	G	8: 4,676,170 (GRCm39)	N46S	probably benign	Het
Zyx	T	A	6: 42,327,291 (GRCm39)	V30E	unknown	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
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'- AGGCCACTTTCCTGAGTCTGAC -3'
(R):5'- TTACCTGGAGCAGCTCATGG -3'

Sequencing Primer
(F):5'- TGAGTCTGACCCCTCAATGAC -3'
(R):5'- AGCAGCTCATGGGAGGG -3'

Posted On

2018-11-28