Mutagenetix > Incidental Mutation

Incidental Mutation 'R6306:Dock9'

509698

Institutional Source

Beutler Lab

Gene Symbol

Dock9

Ensembl Gene

ENSMUSG00000025558

Gene Name

dedicator of cytokinesis 9

Synonyms

D14Wsu89e, Zizimin1, B230309H04Rik

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6306 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

121542046-121797837 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 121562080 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 1729 (I1729N)

Ref Sequence

ENSEMBL: ENSMUSP00000148328 (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: I1764N

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

SMART Domains

Protein: ENSMUSP00000047881
Gene: ENSMUSG00000025558
AA Change: I1764N

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: I1709N

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

SMART Domains

Protein: ENSMUSP00000097872
Gene: ENSMUSG00000025558
AA Change: I1709N

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

noncoding transcript
Transcript: ENSMUST00000211803

Predicted Effect

probably damaging
Transcript: ENSMUST00000212181
AA Change: I1739N

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000212376
AA Change: I1729N

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

Predicted Effect

probably benign
Transcript: ENSMUST00000212416

Meta Mutation Damage Score

0.4767

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.4%

Validation Efficiency

100% (88/88)

Allele List at MGI

Other mutations in this stock

Total: 88 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1520401A03Rik	T	C	17: 23,706,150	N495S	possibly damaging	Het
Adamts7	G	A	9: 90,178,278		probably null	Het
Adora2a	T	A	10: 75,333,404	V234E	probably damaging	Het
Alpk1	T	C	3: 127,686,316	D188G	probably damaging	Het
Ankdd1a	C	T	9: 65,508,061	A227T	possibly damaging	Het
Ankrd17	A	G	5: 90,244,154	F1886L	probably benign	Het
Anks1	T	G	17: 28,050,639	L769R	probably damaging	Het
Apol10a	A	G	15: 77,488,961	I266V	probably benign	Het
Arhgef28	T	C	13: 97,985,388	Y556C	probably damaging	Het
Brd8	T	A	18: 34,611,251	T175S	probably damaging	Het
Camsap2	C	T	1: 136,281,199	V852I	probably benign	Het
Cd55b	G	T	1: 130,414,066	P278Q	probably damaging	Het
Cep290	T	A	10: 100,531,166	S1126R	possibly damaging	Het
Cfh	C	T	1: 140,102,417	C906Y	probably damaging	Het
Chst13	C	A	6: 90,309,278	R234L	probably damaging	Het
Clcn7	T	C	17: 25,157,528	F611L	probably benign	Het
Cntnap1	A	G	11: 101,184,615	D873G	probably damaging	Het
Cntnap5b	T	C	1: 100,164,146	I518T	probably damaging	Het
Col28a1	T	C	6: 8,014,969	E812G	probably damaging	Het
Cpa1	T	C	6: 30,640,954	I148T	probably damaging	Het
Cyp11a1	A	G	9: 58,025,100	N232S	probably benign	Het
Dhrs13	A	G	11: 78,032,693	D79G	probably damaging	Het
Disp1	T	C	1: 183,087,148	E1236G	possibly damaging	Het
Dnah1	A	C	14: 31,304,587	L778R	probably damaging	Het
Dnah14	CTGTG	CTG	1: 181,585,024		probably null	Het
Dnase1l1	C	T	X: 74,277,038		probably null	Homo
Dysf	T	C	6: 84,137,266	V1192A	possibly damaging	Het
Enpp2	A	G	15: 54,899,346	S169P	probably damaging	Het
Fam114a2	T	G	11: 57,514,146	R43S	probably damaging	Het
Fam13a	T	C	6: 58,940,254	T546A	probably benign	Het
Fos	A	T	12: 85,475,686	D163V	probably damaging	Het
Fras1	T	C	5: 96,764,946	Y3370H	probably damaging	Het
Fshr	T	C	17: 89,200,533	N27S	probably null	Het
Galnt6	A	G	15: 100,693,424	S600P	possibly damaging	Het
Gars	T	A	6: 55,055,824	N260K	probably damaging	Het
Gpr158	C	G	2: 21,815,611	P640A	possibly damaging	Het
Grik3	A	G	4: 125,632,412	D146G	probably benign	Het
Hdac4	T	C	1: 91,996,174	T205A	probably benign	Het
Kcnq3	T	C	15: 66,004,794	D500G	probably benign	Het
Kmt5c	A	G	7: 4,746,481	K333E	probably benign	Het
Krt81	A	G	15: 101,459,523	S443P	probably benign	Het
M6pr	T	C	6: 122,315,162		probably null	Het
Mccc2	T	A	13: 99,993,577	I91L	probably benign	Het
Nip7	A	G	8: 107,058,423	D110G	probably damaging	Het
Nol8	T	A	13: 49,676,353	F1093I	probably damaging	Het
Nrxn1	T	C	17: 90,565,446	T1027A	possibly damaging	Het
Ofcc1	T	A	13: 40,148,576	M495L	probably benign	Het
Olfr18	A	G	9: 20,314,446	M158T	probably benign	Het
Olfr62	A	T	4: 118,666,293	M259L	probably benign	Het
Pafah1b2	A	T	9: 45,975,127	V81D	probably damaging	Het
Pcdhga4	A	T	18: 37,685,913	S172C	probably damaging	Het
Pds5a	A	G	5: 65,656,296	V282A	probably damaging	Het
Plat	A	G	8: 22,772,266	D102G	possibly damaging	Het
Plce1	C	A	19: 38,769,465	Q1961K	probably damaging	Het
Plppr3	T	A	10: 79,861,732	K444*	probably null	Het
Plscr3	A	G	11: 69,847,646		probably null	Het
Prtg	A	T	9: 72,906,186	T943S	probably benign	Het
Racgap1	A	G	15: 99,623,953	F519L	probably benign	Het
Rbms2	A	T	10: 128,151,181		probably null	Het
Rfx7	A	G	9: 72,616,955	T476A	possibly damaging	Het
Rnf150	T	A	8: 83,083,502	L421Q	possibly damaging	Het
Sema3b	A	G	9: 107,600,920	L422P	possibly damaging	Het
Shank2	G	A	7: 144,409,680	A921T	probably benign	Het
Skint3	A	T	4: 112,255,875	E227D	probably damaging	Het
Slc25a19	G	A	11: 115,617,560	R201C	possibly damaging	Het
Slc38a10	G	T	11: 120,147,819	A40D	probably damaging	Het
Slc5a4b	T	C	10: 76,081,351	T284A	probably benign	Het
Smc1b	A	T	15: 85,127,623	F154I	probably benign	Het
Spry2	A	T	14: 105,892,984	M256K	possibly damaging	Het
Stkld1	C	T	2: 26,943,887	P129S	probably damaging	Het
Syce2	T	C	8: 84,872,742	L13S	possibly damaging	Het
Tbc1d15	C	A	10: 115,233,243	V74L	possibly damaging	Het
Tecpr2	T	A	12: 110,944,751	V1074D	probably damaging	Het
Tex36	G	A	7: 133,595,325	T21I	probably benign	Het
Ttn	T	G	2: 76,724,110	D30787A	probably damaging	Het
Ttn	T	A	2: 76,791,920	Q13710L	probably benign	Het
Usp34	T	C	11: 23,412,260	F1569L	possibly damaging	Het
Vat1l	C	T	8: 114,371,651	A387V	probably damaging	Het
Vil1	G	A	1: 74,421,311	G209D	possibly damaging	Het
Vmn1r113	G	T	7: 20,787,867	D195Y	probably damaging	Het
Vmn2r69	A	C	7: 85,415,591	I29R	probably benign	Het
Vti1b	G	A	12: 79,160,549	Q76*	probably null	Het
Zfp423	C	A	8: 87,782,034	V540F	possibly damaging	Het
Zfp644	T	C	5: 106,638,124	N186D	probably damaging	Het
Zfp647	G	A	15: 76,912,085	P125L	probably damaging	Het
Zfp787	G	A	7: 6,132,361	A297V	probably damaging	Het
Zfp827	G	T	8: 79,060,695	Q163H	probably damaging	Het
Zfp955b	T	A	17: 33,303,186	V543E	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
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
R6784:Dock9	UTSW	14	121543514	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'- GGATGAGACCCTACCAGTTCAAG -3'
(R):5'- GTGCATCATGAATTCCACCG -3'

Sequencing Primer
(F):5'- CCTACCAGTTCAAGACAGAGGTG -3'
(R):5'- ACCGCAAGCAGCCTTTG -3'

Posted On

2018-04-02