Mutagenetix > Incidental Mutation

Incidental Mutation 'R0634:Dock6'

58155

Institutional Source

Beutler Lab

Gene Symbol

Dock6

Ensembl Gene

ENSMUSG00000032198

Gene Name

dedicator of cytokinesis 6

Synonyms

4931431C02Rik, 2410095B20Rik, C330023D02Rik

MMRRC Submission

038823-MU

Accession Numbers

Essential gene?

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

Stock #

R0634 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

21711476-21764006 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 21752823 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 330 (T330I)

Ref Sequence

ENSEMBL: ENSMUSP00000034728 (fasta)

Gene Model

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

AlphaFold

Q8VDR9

Predicted Effect

probably damaging
Transcript: ENSMUST00000034728
AA Change: T330I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000034728
Gene: ENSMUSG00000032198
AA Change: T330I

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 damaging
Transcript: ENSMUST00000217336
AA Change: T330I

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000217515

Meta Mutation Damage Score

0.2932

Coding Region Coverage

1x: 99.4%
3x: 99.0%
10x: 97.9%
20x: 96.2%

Validation Efficiency

98% (62/63)

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	A	G	11: 9,264,491 (GRCm39)	I2958V	possibly damaging	Het
Adam21	C	A	12: 81,607,126 (GRCm39)	W212L	probably benign	Het
Adcy2	A	C	13: 68,876,064 (GRCm39)	H479Q	possibly damaging	Het
Adcy4	T	C	14: 56,019,054 (GRCm39)	R168G	probably benign	Het
Adrm1b	C	T	3: 92,336,116 (GRCm39)	W125*	probably null	Het
Atp13a2	T	C	4: 140,734,240 (GRCm39)		probably benign	Het
C1ra	G	A	6: 124,494,464 (GRCm39)	E304K	possibly damaging	Het
Cc2d2a	A	C	5: 43,838,723 (GRCm39)		probably benign	Het
Cenpe	T	C	3: 134,952,588 (GRCm39)	L1426P	probably damaging	Het
Cntn1	A	T	15: 92,212,444 (GRCm39)	R869*	probably null	Het
Creb3l2	A	T	6: 37,311,283 (GRCm39)		probably benign	Het
Crybg2	G	A	4: 133,802,615 (GRCm39)		probably benign	Het
Csmd1	A	T	8: 16,276,405 (GRCm39)	F800I	probably damaging	Het
Ets2	G	A	16: 95,517,200 (GRCm39)	E311K	possibly damaging	Het
Fbxo22	A	T	9: 55,122,244 (GRCm39)	Q141L	probably benign	Het
Fer	C	T	17: 64,342,503 (GRCm39)	T223M	probably benign	Het
Gtf3c1	A	T	7: 125,256,649 (GRCm39)		probably benign	Het
Gtf3c2	G	A	5: 31,317,150 (GRCm39)	R684*	probably null	Het
Hs6st3	T	A	14: 120,106,474 (GRCm39)	L294*	probably null	Het
Ighg2c	T	G	12: 113,251,584 (GRCm39)	E181A	unknown	Het
Igkv6-15	A	T	6: 70,383,763 (GRCm39)		probably benign	Het
Irag2	A	T	6: 145,120,354 (GRCm39)	H523L	probably damaging	Het
Map2k6	C	T	11: 110,385,169 (GRCm39)	R178*	probably null	Het
Meikin	T	A	11: 54,281,309 (GRCm39)	D126E	probably benign	Het
Mgst1	A	T	6: 138,133,329 (GRCm39)	T37S	probably damaging	Het
Mrc2	G	A	11: 105,238,518 (GRCm39)	V1222M	probably benign	Het
Myom2	C	A	8: 15,169,216 (GRCm39)		probably benign	Het
Negr1	A	G	3: 156,721,903 (GRCm39)	K159R	possibly damaging	Het
Nptx1	T	C	11: 119,434,127 (GRCm39)	T320A	possibly damaging	Het
Or12j3	A	T	7: 139,953,310 (GRCm39)	V71E	possibly damaging	Het
Or4p21	A	T	2: 88,276,961 (GRCm39)	M107K	probably benign	Het
Or5p66	T	C	7: 107,885,503 (GRCm39)	I277V	probably benign	Het
Pes1	C	T	11: 3,927,794 (GRCm39)		probably benign	Het
Pes1	T	G	11: 3,927,795 (GRCm39)		probably benign	Het
Pkhd1	A	T	1: 20,187,698 (GRCm39)	Y3537N	probably damaging	Het
Poteg	G	A	8: 27,963,615 (GRCm39)	G289R	probably benign	Het
Pramel29	A	G	4: 143,935,910 (GRCm39)		probably null	Het
Rassf5	T	C	1: 131,172,693 (GRCm39)	R59G	probably damaging	Het
Reln	A	T	5: 22,223,867 (GRCm39)	W961R	probably damaging	Het
Rhot2	G	A	17: 26,061,002 (GRCm39)	H168Y	possibly damaging	Het
Ripk3	G	T	14: 56,025,848 (GRCm39)		probably benign	Het
Samm50	A	G	15: 84,098,372 (GRCm39)		silent	Het
Sap30bp	T	C	11: 115,848,229 (GRCm39)	I117T	probably damaging	Het
Sephs1	A	G	2: 4,904,371 (GRCm39)	T250A	probably benign	Het
Sipa1l2	A	T	8: 126,149,363 (GRCm39)	L1632*	probably null	Het
Sirt7	T	C	11: 120,512,955 (GRCm39)		probably benign	Het
Smg8	T	C	11: 86,976,934 (GRCm39)	T216A	possibly damaging	Het
Sox9	A	G	11: 112,675,768 (GRCm39)	Y319C	probably damaging	Het
Sspn	G	A	6: 145,906,877 (GRCm39)	A27T	possibly damaging	Het
Suco	A	G	1: 161,666,373 (GRCm39)	V509A	possibly damaging	Het
Svep1	C	T	4: 58,070,661 (GRCm39)	C2375Y	possibly damaging	Het
Trbv21	T	A	6: 41,179,984 (GRCm39)		probably benign	Het
Uimc1	C	T	13: 55,208,079 (GRCm39)	E455K	possibly damaging	Het
Upk3b	A	G	5: 136,068,930 (GRCm39)	T100A	possibly damaging	Het
Usp47	A	G	7: 111,707,862 (GRCm39)	N1303D	probably damaging	Het
Vav1	A	T	17: 57,610,862 (GRCm39)	D476V	probably benign	Het
Vmn1r68	A	G	7: 10,261,162 (GRCm39)	V312A	probably benign	Het
Wdr62	A	G	7: 29,969,599 (GRCm39)	V287A	probably damaging	Het
Zcchc4	C	T	5: 52,940,550 (GRCm39)	P40S	probably benign	Het
Zfp326	T	A	5: 106,034,069 (GRCm39)	Y26*	probably null	Het
Zfp592	A	G	7: 80,687,819 (GRCm39)	H915R	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
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

Predicted Primers

PCR Primer
(F):5'- TGGCCTGAAAGTACTCAAGTTGCTC -3'
(R):5'- TGAAATTGAACCCATCTTCGGCACC -3'

Sequencing Primer
(F):5'- CAAGTTGCTCCATTGTTGAAACC -3'
(R):5'- ctccctccctcctccctc -3'

Posted On

2013-07-11