Mutagenetix > Incidental Mutation

Incidental Mutation 'R9308:Dock6'

705349

Institutional Source

Beutler Lab

Gene Symbol

Dock6

Ensembl Gene

ENSMUSG00000032198

Gene Name

dedicator of cytokinesis 6

Synonyms

4931431C02Rik, 2410095B20Rik, C330023D02Rik

MMRRC Submission

Accession Numbers

Essential gene?

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

Stock #

R9308 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

21711476-21764006 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 21728744 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Stop codon at position 1307 (C1307*)

Ref Sequence

ENSEMBL: ENSMUSP00000149156 (fasta)

Gene Model

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

AlphaFold

Q8VDR9

Predicted Effect

probably null
Transcript: ENSMUST00000034728
AA Change: C1276*

SMART Domains

Protein: ENSMUSP00000034728
Gene: ENSMUSG00000032198
AA Change: C1276*

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: ENSMUST00000215729
AA Change: C40*

Predicted Effect

probably null
Transcript: ENSMUST00000217336
AA Change: C1307*

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.4%

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700010I14Rik	G	T	17: 9,220,667 (GRCm39)	E389*	probably null	Het
2700049A03Rik	T	C	12: 71,231,233 (GRCm39)	V997A	probably benign	Het
9930012K11Rik	A	G	14: 70,393,863 (GRCm39)		probably null	Het
Acss3	C	G	10: 106,959,282 (GRCm39)	G55R	possibly damaging	Het
Acte1	G	T	7: 143,434,902 (GRCm39)		probably null	Het
Acy3	C	T	19: 4,038,451 (GRCm39)	R193W	probably damaging	Het
Adam15	T	C	3: 89,254,790 (GRCm39)	D90G	possibly damaging	Het
Adamts9	T	C	6: 92,857,875 (GRCm39)	D833G	probably benign	Het
Apoa2	A	G	1: 171,053,300 (GRCm39)	S40G	probably benign	Het
Arhgap21	A	T	2: 20,854,061 (GRCm39)	M1777K	probably damaging	Het
BC004004	A	G	17: 29,513,089 (GRCm39)	E171G	probably benign	Het
Cblb	A	G	16: 52,009,374 (GRCm39)		probably null	Het
Cdk5rap2	T	C	4: 70,328,504 (GRCm39)	M1V	probably null	Het
Clca4a	T	G	3: 144,676,183 (GRCm39)	E117A	probably damaging	Het
Cps1	T	C	1: 67,200,118 (GRCm39)		probably null	Het
Crygd	T	C	1: 65,101,220 (GRCm39)	N125S	probably benign	Het
Csf1	T	A	3: 107,655,585 (GRCm39)	H482L	probably benign	Het
Cyp3a41a	A	G	5: 145,656,858 (GRCm39)	M1T	probably null	Het
Dgkg	C	A	16: 22,429,528 (GRCm39)		probably null	Het
Dnhd1	T	C	7: 105,353,484 (GRCm39)	V2879A	probably damaging	Het
Exoc1	T	A	5: 76,706,968 (GRCm39)	M505K	probably benign	Het
Fam131a	A	G	16: 20,520,582 (GRCm39)	D345G	probably damaging	Het
Fbxw17	G	T	13: 50,572,004 (GRCm39)	R24L	probably benign	Het
Gmcl1	A	C	6: 86,691,239 (GRCm39)	I252R	possibly damaging	Het
Gpr150	G	A	13: 76,203,701 (GRCm39)	R415C	probably damaging	Het
Gtf3c4	G	A	2: 28,724,982 (GRCm39)	S250L	probably damaging	Het
Irs3	G	A	5: 137,642,343 (GRCm39)	A365V	possibly damaging	Het
Jph4	C	A	14: 55,346,981 (GRCm39)	G522V	probably damaging	Het
Kcnn1	C	T	8: 71,305,434 (GRCm39)	G302R	probably damaging	Het
Ksr1	A	T	11: 78,918,291 (GRCm39)	L621H	probably damaging	Het
Lrrn3	T	C	12: 41,503,945 (GRCm39)	E124G	probably damaging	Het
Map3k6	T	C	4: 132,970,722 (GRCm39)	L203P	probably damaging	Het
Mapk15	T	A	15: 75,865,714 (GRCm39)	C2*	probably null	Het
Mga	T	A	2: 119,754,369 (GRCm39)	N959K	possibly damaging	Het
Mrgprb2	A	T	7: 48,202,655 (GRCm39)	N23K	possibly damaging	Het
Myo10	G	T	15: 25,781,862 (GRCm39)	S1119I	probably damaging	Het
Or12e13	G	A	2: 87,663,523 (GRCm39)	G47R	probably damaging	Het
Or14j4	A	G	17: 37,921,246 (GRCm39)	V132A	possibly damaging	Het
Or2a12	G	T	6: 42,904,749 (GRCm39)	V195F	probably benign	Het
Or2a25	A	T	6: 42,888,931 (GRCm39)	H158L	probably damaging	Het
Or6k6	A	G	1: 173,945,501 (GRCm39)	V27A	probably benign	Het
Ovch2	T	C	7: 107,389,560 (GRCm39)	E329G	probably benign	Het
Pkn2	C	T	3: 142,517,724 (GRCm39)	R458Q	probably benign	Het
Pnpt1	T	C	11: 29,097,535 (GRCm39)		probably null	Het
Ppfia4	A	G	1: 134,245,556 (GRCm39)	V666A	probably benign	Het
Psmb10	T	C	8: 106,662,662 (GRCm39)	R226G	probably damaging	Het
Ptpn5	A	G	7: 46,740,569 (GRCm39)	V78A	probably benign	Het
Ptprk	A	G	10: 28,450,850 (GRCm39)	M1004V	probably benign	Het
Pygb	T	A	2: 150,668,297 (GRCm39)	S626T	probably benign	Het
Rad21l	T	C	2: 151,491,049 (GRCm39)	T473A	probably benign	Het
Rassf7	T	C	7: 140,798,063 (GRCm39)	S344P	probably benign	Het
Rbbp6	T	C	7: 122,596,221 (GRCm39)	S550P	probably damaging	Het
Rhpn2	T	C	7: 35,033,805 (GRCm39)	L13P	possibly damaging	Het
Rps11	C	T	7: 44,772,614 (GRCm39)	V66I	probably benign	Het
Slc22a18	T	C	7: 143,044,617 (GRCm39)	V190A	probably benign	Het
Smad1	T	C	8: 80,098,899 (GRCm39)		probably benign	Het
Spock2	A	G	10: 59,965,556 (GRCm39)	K327E	possibly damaging	Het
Tmem135	G	C	7: 88,797,186 (GRCm39)	L357V	probably benign	Het
Tom1l1	TTGCTGCTGCTGCTGCTG	TTGCTGCTGCTGCTG	11: 90,540,648 (GRCm39)		probably benign	Het
Traj22	T	C	14: 54,434,729 (GRCm39)	I8T		Het
Txnl1	T	C	18: 63,812,446 (GRCm39)	D116G	probably benign	Het
Ush1g	A	T	11: 115,209,534 (GRCm39)	L220Q	probably damaging	Het
Vmn2r10	C	A	5: 109,145,476 (GRCm39)	E544*	probably null	Het
Vmn2r17	T	C	5: 109,600,505 (GRCm39)	V601A	probably damaging	Het
Zc3h13	C	T	14: 75,565,418 (GRCm39)	R844W	unknown	Het
Zfpm1	A	C	8: 123,034,231 (GRCm39)	D55A	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
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
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'- ACCTTGTACTCGAAGGCAGC -3'
(R):5'- CTTTGAATCGAAGCCCATGTCG -3'

Sequencing Primer
(F):5'- TTGTACTCGAAGGCAGCCAGAC -3'
(R):5'- CACACATGTGTTCTCAGGACTGG -3'

Posted On

2022-03-25