Mutagenetix > Incidental Mutation

Incidental Mutation 'R4246:Dock6'

320428

Institutional Source

Beutler Lab

Gene Symbol

Dock6

Ensembl Gene

ENSMUSG00000032198

Gene Name

dedicator of cytokinesis 6

Synonyms

4931431C02Rik, 2410095B20Rik, C330023D02Rik

MMRRC Submission

041062-MU

Accession Numbers

Essential gene?

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

Stock #

R4246 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

21711476-21764006 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

A to T at 21750786 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000149156 (fasta)

Gene Model

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

AlphaFold

Q8VDR9

Predicted Effect

probably null
Transcript: ENSMUST00000034728

SMART Domains

Protein: ENSMUSP00000034728
Gene: ENSMUSG00000032198

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 null
Transcript: ENSMUST00000034728

SMART Domains

Protein: ENSMUSP00000034728
Gene: ENSMUSG00000032198

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 null
Transcript: ENSMUST00000217336

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000217515

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.9%

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: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700062C07Rik	A	G	18: 24,606,013 (GRCm39)	N36S	possibly damaging	Het
Ak1	A	G	2: 32,523,384 (GRCm39)	T151A	possibly damaging	Het
Asxl3	A	G	18: 22,658,557 (GRCm39)	D2189G	probably damaging	Het
Ccdc91	C	T	6: 147,493,646 (GRCm39)	A346V	unknown	Het
Dnah6	C	T	6: 73,106,431 (GRCm39)	E1769K	probably benign	Het
Fhod3	A	G	18: 25,123,123 (GRCm39)	K271R	probably null	Het
Glyatl3	T	A	17: 41,220,989 (GRCm39)	D126V	probably benign	Het
Gnal	C	G	18: 67,221,654 (GRCm39)	P19R	unknown	Het
Igkv8-21	T	A	6: 70,292,436 (GRCm39)	M1L	possibly damaging	Het
Itih4	C	A	14: 30,613,359 (GRCm39)	H261N	probably damaging	Het
Jpt1	T	C	11: 115,405,119 (GRCm39)		probably benign	Het
Kif14	G	T	1: 136,401,126 (GRCm39)	M492I	possibly damaging	Het
Klhl32	A	C	4: 24,800,822 (GRCm39)	S3A	possibly damaging	Het
Kmt2d	C	T	15: 98,737,970 (GRCm39)		probably benign	Het
Lamtor5	T	C	3: 107,186,354 (GRCm39)	V41A	probably benign	Het
Lmtk3	G	A	7: 45,443,486 (GRCm39)	C723Y	possibly damaging	Het
Lrfn1	G	T	7: 28,159,367 (GRCm39)	V429L	probably benign	Het
Mapkbp1	T	A	2: 119,843,508 (GRCm39)	I252N	probably damaging	Het
Nelfa	A	G	5: 34,056,373 (GRCm39)	F464S	probably damaging	Het
Nipbl	G	A	15: 8,361,916 (GRCm39)	L1454F	probably damaging	Het
Nr4a3	C	T	4: 48,083,125 (GRCm39)	P553S	possibly damaging	Het
Nrg3	G	A	14: 39,194,198 (GRCm39)	T187I	possibly damaging	Het
Or5m5	T	A	2: 85,814,624 (GRCm39)	C147S	possibly damaging	Het
Or8g36	A	G	9: 39,422,899 (GRCm39)	V39A	probably benign	Het
Pcdha8	A	G	18: 37,125,950 (GRCm39)	E144G	probably damaging	Het
Pik3cb	T	C	9: 98,983,229 (GRCm39)		probably null	Het
Pira1	C	T	7: 3,740,348 (GRCm39)	G291E	probably damaging	Het
Pkd1l1	C	T	11: 8,815,543 (GRCm39)	R1456K	possibly damaging	Het
Ppp1r3a	T	A	6: 14,719,780 (GRCm39)	E378V	probably damaging	Het
Psd2	T	C	18: 36,139,172 (GRCm39)	L540P	probably damaging	Het
Rnf14	T	A	18: 38,434,701 (GRCm39)		probably null	Het
Satl1	A	G	X: 111,316,033 (GRCm39)	S141P	probably benign	Het
Setx	GTGGCT	GT	2: 29,044,073 (GRCm39)	1814	probably null	Het
Sh3d19	G	A	3: 86,033,995 (GRCm39)	V783I	probably benign	Het
Snca	T	C	6: 60,710,149 (GRCm39)	E110G	possibly damaging	Het
Sumf1	A	C	6: 108,131,974 (GRCm39)	V156G	probably damaging	Het
Trhr	A	T	15: 44,096,856 (GRCm39)		probably null	Het
Tsen2	A	G	6: 115,524,785 (GRCm39)		probably benign	Het
Tuft1	C	A	3: 94,522,108 (GRCm39)	M319I	probably benign	Het
Vill	C	A	9: 118,889,461 (GRCm39)	N132K	probably damaging	Het
Wars2	T	A	3: 99,123,904 (GRCm39)	V255E	probably damaging	Het
Zcchc14	CTGATGGTGGTGGTGATGGTGGTGG	CTGATGGTGGTGG	8: 122,331,031 (GRCm39)		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
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'- GCTGAAAGTTCCCAAGATAGATG -3'
(R):5'- ACTTGGCCAACATCGTGAGC -3'

Sequencing Primer
(F):5'- CCCAGGAGGAAAAGAAATCTGTTTTC -3'
(R):5'- AACATCGTGAGCAGGCC -3'

Posted On

2015-06-12