Mutagenetix > Incidental Mutation

Incidental Mutation 'R6784:Dock9'

531575

Institutional Source

Beutler Lab

Gene Symbol

Dock9

Ensembl Gene

ENSMUSG00000025558

Gene Name

dedicator of cytokinesis 9

Synonyms

D14Wsu89e, Zizimin1, B230309H04Rik

MMRRC Submission

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6784 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

121542046-121797837 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 121543514 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 2086 (S2086P)

Ref Sequence

ENSEMBL: ENSMUSP00000148834 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000040700] [ENSMUST00000100299] [ENSMUST00000212181] [ENSMUST00000212376] [ENSMUST00000212416]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000040700
AA Change: S2111P

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

SMART Domains

Protein: ENSMUSP00000047881
Gene: ENSMUSG00000025558
AA Change: S2111P

Domain	Start	End	E-Value	Type
Pfam:DUF3398	58	151	5.6e-36	PFAM
PH	172	280	1.38e-16	SMART
Blast:PH	297	372	4e-25	BLAST
Pfam:DOCK-C2	631	822	5.3e-51	PFAM
Pfam:DHR-2	1523	2068	2.1e-212	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000100299
AA Change: S2056P

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

SMART Domains

Protein: ENSMUSP00000097872
Gene: ENSMUSG00000025558
AA Change: S2056P

Domain	Start	End	E-Value	Type
Pfam:DUF3398	58	153	1.5e-32	PFAM
PH	174	282	1.38e-16	SMART
Blast:PH	299	374	4e-25	BLAST
Pfam:DOCK-C2	632	825	1.3e-59	PFAM
low complexity region	1752	1763	N/A	INTRINSIC
Pfam:Ded_cyto	1836	2013	2.4e-69	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000212181
AA Change: S2086P

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

Predicted Effect

probably benign
Transcript: ENSMUST00000212376

Predicted Effect

probably benign
Transcript: ENSMUST00000212416

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.5%
20x: 96.2%

Validation Efficiency

98% (46/47)

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931417E11Rik	A	T	6: 73,468,935	Y210*	probably null	Het
Aass	C	T	6: 23,093,896	S142N	probably null	Het
Aida	A	G	1: 183,322,491	Y275C	probably damaging	Het
Arrdc4	A	G	7: 68,748,846	I74T	probably benign	Het
C1ql4	A	G	15: 99,087,409	V107A	probably benign	Het
Ccnh	T	C	13: 85,212,765	V284A	probably benign	Het
Cd180	A	G	13: 102,702,705	E32G	probably damaging	Het
Chd6	T	C	2: 160,966,254	D1680G	probably damaging	Het
Cog7	A	T	7: 121,964,293		probably null	Het
Cyp2j6	T	A	4: 96,535,504	Q209L	possibly damaging	Het
Dars	A	T	1: 128,391,347	V116E	probably damaging	Het
Dnah10	A	G	5: 124,777,826	K1932E	probably damaging	Het
Espl1	C	G	15: 102,299,225	R375G	probably benign	Het
Fer1l6	C	T	15: 58,571,426	S526L	possibly damaging	Het
Galnt9	G	A	5: 110,620,599	R587H	probably damaging	Het
Gigyf2	G	T	1: 87,443,674	V1170L	probably damaging	Het
Gm14412	G	T	2: 177,317,340	T41K	probably benign	Het
Gm45861	A	G	8: 27,500,058		probably null	Het
Gm5640	C	T	X: 74,640,415	R355H	probably damaging	Homo
Hist1h2bc	T	C	13: 23,684,500	I90T	probably damaging	Het
Hoxc5	A	G	15: 103,013,890		probably benign	Het
Klra1	T	C	6: 130,372,854	D207G	probably benign	Het
Lancl2	A	G	6: 57,703,255	N57D	probably benign	Het
Map2k4	T	C	11: 65,691,751		probably benign	Het
Mgat3	G	T	15: 80,212,200	Q409H	probably damaging	Het
Mpp3	T	A	11: 102,002,148		probably null	Het
Myh1	T	A	11: 67,214,570	L1062Q	probably damaging	Het
Nebl	T	A	2: 17,434,914	K183*	probably null	Het
Npat	G	C	9: 53,558,158	D315H	probably damaging	Het
Nt5c2	A	G	19: 46,924,327	V63A	probably damaging	Het
Olfr1123	C	T	2: 87,418,452	R135C	probably benign	Het
Olfr389	T	G	11: 73,776,850	H159P	probably damaging	Het
Olfr491	A	T	7: 108,317,782	D296V	probably damaging	Het
Olfr574	A	T	7: 102,948,515	T17S	possibly damaging	Het
Opn1sw	T	A	6: 29,379,847	E129D	probably damaging	Het
Prdm16	T	C	4: 154,323,307	Y1153C	probably damaging	Het
Prdm6	T	A	18: 53,536,626	D105E	probably benign	Het
Rbm27	T	C	18: 42,301,864	M331T	probably benign	Het
S1pr1	A	G	3: 115,712,061	Y295H	probably damaging	Het
Sgpp1	G	C	12: 75,735,469	P32R	probably benign	Het
Sla2	C	T	2: 156,883,669	S3N	unknown	Het
Slc10a6	A	G	5: 103,629,030	I68T	probably damaging	Het
Slc5a1	T	C	5: 33,158,116	F493S	probably benign	Het
Snx14	A	T	9: 88,381,792	Y847N	probably benign	Het
Tmc1	A	G	19: 20,827,651		probably null	Het
Vps8	C	A	16: 21,563,207	Q1130K	probably benign	Het

Other mutations in Dock9

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00236:Dock9	APN	14	121668468	missense	probably benign	0.12
IGL00817:Dock9	APN	14	121698291	missense	probably damaging	0.96
IGL00923:Dock9	APN	14	121607092	unclassified	probably benign
IGL01385:Dock9	APN	14	121580583	missense	possibly damaging	0.94
IGL01567:Dock9	APN	14	121653084	missense	probably damaging	1.00
IGL01767:Dock9	APN	14	121622870	missense	possibly damaging	0.91
IGL01811:Dock9	APN	14	121559028	missense	probably damaging	1.00
IGL02512:Dock9	APN	14	121619538	splice site	probably benign
IGL02525:Dock9	APN	14	121640126	missense	probably damaging	1.00
IGL02550:Dock9	APN	14	121698312	start codon destroyed	probably null	0.07
IGL02559:Dock9	APN	14	121625147	splice site	probably benign
IGL02666:Dock9	APN	14	121580699	missense	probably benign	0.42
IGL02674:Dock9	APN	14	121595611	splice site	probably null
IGL02795:Dock9	APN	14	121639978	missense	probably benign	0.04
IGL03074:Dock9	APN	14	121607270	missense	possibly damaging	0.95
IGL03095:Dock9	APN	14	121639528	missense	probably damaging	1.00
IGL03294:Dock9	APN	14	121641623	splice site	probably benign
R0036:Dock9	UTSW	14	121622853	missense	probably damaging	1.00
R0050:Dock9	UTSW	14	121607225	missense	probably benign	0.43
R0050:Dock9	UTSW	14	121607225	missense	probably benign	0.43
R0164:Dock9	UTSW	14	121597665	missense	probably damaging	1.00
R0164:Dock9	UTSW	14	121597665	missense	probably damaging	1.00
R0270:Dock9	UTSW	14	121575999	missense	probably benign	0.02
R0494:Dock9	UTSW	14	121662584	missense	possibly damaging	0.64
R0726:Dock9	UTSW	14	121651768	nonsense	probably null
R1029:Dock9	UTSW	14	121599684	splice site	probably null
R1214:Dock9	UTSW	14	121586316	missense	probably benign	0.02
R1231:Dock9	UTSW	14	121575950	missense	possibly damaging	0.61
R1535:Dock9	UTSW	14	121546064	missense	probably damaging	1.00
R1629:Dock9	UTSW	14	121543574	missense	possibly damaging	0.88
R1637:Dock9	UTSW	14	121651775	missense	possibly damaging	0.66
R1733:Dock9	UTSW	14	121626880	missense	probably benign	0.01
R1772:Dock9	UTSW	14	121609798	missense	probably benign	0.07
R1855:Dock9	UTSW	14	121640159	missense	probably damaging	1.00
R1888:Dock9	UTSW	14	121625205	missense	probably benign	0.18
R1888:Dock9	UTSW	14	121625205	missense	probably benign	0.18
R1901:Dock9	UTSW	14	121625153	splice site	probably null
R1920:Dock9	UTSW	14	121583380	missense	probably damaging	1.00
R1987:Dock9	UTSW	14	121591830	missense	probably benign	0.00
R3035:Dock9	UTSW	14	121606837	missense	possibly damaging	0.60
R3851:Dock9	UTSW	14	121629086	splice site	probably null
R4020:Dock9	UTSW	14	121606855	missense	probably benign	0.00
R4021:Dock9	UTSW	14	121626912	missense	possibly damaging	0.80
R4089:Dock9	UTSW	14	121583471	missense	probably damaging	1.00
R4258:Dock9	UTSW	14	121581442	missense	probably benign	0.00
R4423:Dock9	UTSW	14	121562053	critical splice donor site	probably null
R4561:Dock9	UTSW	14	121559007	missense	probably benign	0.01
R4604:Dock9	UTSW	14	121668459	missense	probably damaging	1.00
R4646:Dock9	UTSW	14	121586246	missense	probably damaging	1.00
R4647:Dock9	UTSW	14	121586246	missense	probably damaging	1.00
R4776:Dock9	UTSW	14	121610097	missense	possibly damaging	0.81
R4809:Dock9	UTSW	14	121546596	missense	probably benign	0.37
R4865:Dock9	UTSW	14	121543505	makesense	probably null
R4951:Dock9	UTSW	14	121653135	missense	probably benign	0.35
R5151:Dock9	UTSW	14	121578170	missense	probably damaging	1.00
R5359:Dock9	UTSW	14	121653060	missense	possibly damaging	0.69
R5366:Dock9	UTSW	14	121578203	missense	probably damaging	1.00
R5502:Dock9	UTSW	14	121610182	splice site	probably null
R5579:Dock9	UTSW	14	121599695	missense	probably damaging	1.00
R5753:Dock9	UTSW	14	121634625	missense	probably benign	0.05
R5836:Dock9	UTSW	14	121681351	missense	probably damaging	1.00
R5858:Dock9	UTSW	14	121628792	missense	probably benign	0.00
R5890:Dock9	UTSW	14	121668408	critical splice donor site	probably null
R6075:Dock9	UTSW	14	121545973	missense	probably benign
R6298:Dock9	UTSW	14	121634594	missense	probably damaging	1.00
R6306:Dock9	UTSW	14	121562080	missense	probably damaging	1.00
R6321:Dock9	UTSW	14	121546021	missense	probably damaging	1.00
R6330:Dock9	UTSW	14	121605243	start codon destroyed	probably null	0.00
R6719:Dock9	UTSW	14	121610027	missense	probably damaging	1.00
R6826:Dock9	UTSW	14	121622918	missense	probably damaging	1.00
R6830:Dock9	UTSW	14	121622918	missense	probably damaging	1.00
R6838:Dock9	UTSW	14	121546596	missense	possibly damaging	0.71
R6868:Dock9	UTSW	14	121586264	missense	probably benign	0.37
R6919:Dock9	UTSW	14	121643152	missense	probably benign	0.42
R6989:Dock9	UTSW	14	121627379	missense	probably damaging	1.00
R7539:Dock9	UTSW	14	121581436	missense	probably damaging	1.00
R7645:Dock9	UTSW	14	121597663	missense	probably benign	0.44
R7875:Dock9	UTSW	14	121625984	nonsense	probably null
R7900:Dock9	UTSW	14	121546079	missense	possibly damaging	0.84
R8040:Dock9	UTSW	14	121651794	missense	probably benign	0.06
R8420:Dock9	UTSW	14	121546042	missense	probably damaging	1.00
R8511:Dock9	UTSW	14	121627389	missense	probably benign	0.40
R8511:Dock9	UTSW	14	121681435	missense	probably damaging	1.00
R8514:Dock9	UTSW	14	121658787	missense	probably benign	0.25
R8691:Dock9	UTSW	14	121640105	missense	possibly damaging	0.49
R8804:Dock9	UTSW	14	121605183	missense	probably damaging	0.98
R8894:Dock9	UTSW	14	121622961	missense	probably benign	0.10
R8900:Dock9	UTSW	14	121580528	missense	probably damaging	1.00
R9069:Dock9	UTSW	14	121628912	missense	probably damaging	0.98
R9218:Dock9	UTSW	14	121668459	missense	probably damaging	1.00
R9233:Dock9	UTSW	14	121583369	missense	probably benign	0.09
R9236:Dock9	UTSW	14	121639558	missense	probably damaging	1.00
R9285:Dock9	UTSW	14	121595600	missense	probably benign
R9451:Dock9	UTSW	14	121550189	splice site	probably benign
R9461:Dock9	UTSW	14	121605189	missense	probably benign	0.05
R9484:Dock9	UTSW	14	121581432	missense	probably damaging	1.00
R9517:Dock9	UTSW	14	121591824	missense	probably benign	0.07
R9542:Dock9	UTSW	14	121627363	missense	probably damaging	1.00
R9694:Dock9	UTSW	14	121581379	missense	probably damaging	1.00
R9701:Dock9	UTSW	14	121639571	missense	probably benign	0.01
R9703:Dock9	UTSW	14	121544577	makesense	probably null
R9726:Dock9	UTSW	14	121597737	missense	possibly damaging	0.61
R9741:Dock9	UTSW	14	121640104	missense	probably damaging	1.00
Z1088:Dock9	UTSW	14	121555275	missense	probably damaging	1.00
Z1176:Dock9	UTSW	14	121651782	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- AAACTATGTGCACCTTCCCC -3'
(R):5'- CCTTTCTGCAGAACGACAGCTG -3'

Sequencing Primer
(F):5'- TCCCCCGACTCCTATAAAATCTG -3'
(R):5'- AGGGGAATTGTGATGTCACC -3'

Posted On

2018-08-29