Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02441:Dock6'

293992

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Dock6

Ensembl Gene

ENSMUSG00000032198

Gene Name

dedicator of cytokinesis 6

Synonyms

4931431C02Rik, 2410095B20Rik, C330023D02Rik

Accession Numbers

Essential gene?

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

Stock #

IGL02441

Quality Score

Status

Chromosome

Chromosomal Location

21711476-21764006 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 21753222 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 286 (V286E)

Ref Sequence

ENSEMBL: ENSMUSP00000034728 (fasta)

Gene Model

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

AlphaFold

Q8VDR9

Predicted Effect

possibly damaging
Transcript: ENSMUST00000034728
AA Change: V286E

PolyPhen 2 Score 0.766 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000034728
Gene: ENSMUSG00000032198
AA Change: V286E

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

noncoding transcript
Transcript: ENSMUST00000213296

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000213775

Predicted Effect

probably benign
Transcript: ENSMUST00000217336
AA Change: V286E

PolyPhen 2 Score 0.422 (Sensitivity: 0.89; Specificity: 0.90)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000217515

Coding Region Coverage

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Alg8	C	T	7: 97,029,504 (GRCm39)	R179C	probably benign	Het
Als2	A	G	1: 59,254,631 (GRCm39)	M242T	probably damaging	Het
Atad1	C	T	19: 32,684,348 (GRCm39)	V17I	probably benign	Het
Bag4	A	G	8: 26,258,136 (GRCm39)	V397A	probably damaging	Het
Brd7	A	G	8: 89,070,218 (GRCm39)	V396A	probably damaging	Het
Cdc45	C	T	16: 18,617,479 (GRCm39)	M200I	probably benign	Het
Cdhr4	T	A	9: 107,870,466 (GRCm39)	I123N	possibly damaging	Het
Cep68	A	G	11: 20,189,186 (GRCm39)	F609L	probably benign	Het
Clec3b	C	A	9: 122,980,178 (GRCm39)	P24T	possibly damaging	Het
Ctsg	T	A	14: 56,339,869 (GRCm39)	T9S	probably benign	Het
Dalrd3	A	T	9: 108,448,725 (GRCm39)		probably benign	Het
Dpep2	G	A	8: 106,711,723 (GRCm39)	A568V	probably benign	Het
Dph5	A	C	3: 115,720,390 (GRCm39)	Q192P	possibly damaging	Het
Eppin	T	A	2: 164,433,698 (GRCm39)	R37*	probably null	Het
Esyt1	A	G	10: 128,348,293 (GRCm39)	L865P	possibly damaging	Het
Exoc6b	A	G	6: 84,981,990 (GRCm39)	L102P	probably damaging	Het
Foxo6	A	G	4: 120,125,232 (GRCm39)	I521T	possibly damaging	Het
Guca1a	A	T	17: 47,705,578 (GRCm39)		probably benign	Het
Hpx	A	G	7: 105,241,430 (GRCm39)	F327S	probably damaging	Het
Hspa12b	A	G	2: 130,980,515 (GRCm39)	M145V	probably null	Het
Hspa4	A	T	11: 53,161,809 (GRCm39)	S448T	probably benign	Het
Kbtbd6	T	C	14: 79,690,759 (GRCm39)	Y422H	probably benign	Het
Lama4	A	T	10: 38,937,441 (GRCm39)	D677V	probably benign	Het
Ldb1	C	T	19: 46,024,195 (GRCm39)	E111K	probably damaging	Het
Macf1	A	G	4: 123,281,029 (GRCm39)	S3823P	probably damaging	Het
Man1a2	G	A	3: 100,499,189 (GRCm39)	T415I	probably benign	Het
Map3k2	T	C	18: 32,333,099 (GRCm39)		probably benign	Het
Morn5	T	A	2: 35,945,038 (GRCm39)	Y87*	probably null	Het
Mpp3	T	C	11: 101,900,501 (GRCm39)	D326G	probably benign	Het
Mrgprx1	T	C	7: 47,671,336 (GRCm39)	H137R	probably benign	Het
Nav2	C	A	7: 49,102,260 (GRCm39)	P292T	probably damaging	Het
Nlrp2	C	A	7: 5,338,566 (GRCm39)		probably null	Het
Noxo1	G	A	17: 24,918,030 (GRCm39)	S112N	probably damaging	Het
Nudt9	G	T	5: 104,212,885 (GRCm39)	K319N	probably benign	Het
Or8b38	A	T	9: 37,973,233 (GRCm39)	I206L	probably benign	Het
Osbpl7	C	A	11: 96,958,528 (GRCm39)	Q728K	probably damaging	Het
Pcsk1	A	T	13: 75,280,282 (GRCm39)	E702D	probably benign	Het
Piezo2	T	C	18: 63,205,933 (GRCm39)	D1492G	probably damaging	Het
Plekhg1	A	G	10: 3,908,103 (GRCm39)	K1007E	possibly damaging	Het
Ppp6r3	G	A	19: 3,514,693 (GRCm39)	P141S	probably benign	Het
Prrt3	T	C	6: 113,473,977 (GRCm39)	T354A	probably damaging	Het
Ptk2	C	A	15: 73,192,675 (GRCm39)	W181L	probably benign	Het
Rif1	T	A	2: 51,995,527 (GRCm39)	H915Q	probably benign	Het
Selenbp2	G	T	3: 94,611,371 (GRCm39)	V361L	probably benign	Het
Slamf7	A	G	1: 171,468,625 (GRCm39)	L89P	probably damaging	Het
Slc6a21	G	A	7: 44,937,505 (GRCm39)	V599M	probably damaging	Het
Sltm	G	T	9: 70,494,467 (GRCm39)	S921I	probably damaging	Het
Smc4	C	A	3: 68,913,544 (GRCm39)	A44E	probably damaging	Het
Tdrd5	A	T	1: 156,087,513 (GRCm39)		probably benign	Het
Tead2	T	A	7: 44,866,845 (GRCm39)	I68N	probably damaging	Het
Tnks1bp1	T	A	2: 84,902,143 (GRCm39)	S1680T	probably damaging	Het
Topbp1	T	C	9: 103,197,438 (GRCm39)	V386A	possibly damaging	Het
Tpx2	C	A	2: 152,724,207 (GRCm39)	P328T	possibly damaging	Het
Ttn	T	A	2: 76,576,332 (GRCm39)	I24854F	probably damaging	Het
Zbtb11	G	A	16: 55,794,552 (GRCm39)	R43H	possibly damaging	Het
Zfp609	A	G	9: 65,610,611 (GRCm39)	L784S	possibly damaging	Het
Zfp703	T	C	8: 27,470,036 (GRCm39)	S567P	probably damaging	Het
Zfp750	A	G	11: 121,404,455 (GRCm39)	I140T	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
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
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

Posted On

2015-04-16