Mutagenetix > Incidental Mutation

Incidental Mutation 'R7900:Dock9'

609959

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 #

R7900 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

121542046-121797837 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 121546079 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Threonine at position 2011 (A2011T)

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: A2036T

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000047881
Gene: ENSMUSG00000025558
AA Change: A2036T

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: A1981T

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000097872
Gene: ENSMUSG00000025558
AA Change: A1981T

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

possibly damaging
Transcript: ENSMUST00000212181
AA Change: A2011T

PolyPhen 2 Score 0.837 (Sensitivity: 0.84; Specificity: 0.93)

Predicted Effect

probably damaging
Transcript: ENSMUST00000212376
AA Change: A2003T

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

Predicted Effect

probably benign
Transcript: ENSMUST00000212416

Meta Mutation Damage Score

0.1218

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.5%

Validation Efficiency

100% (50/50)

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A530084C06Rik	G	T	13: 31,558,995	R92S	unknown	Het
Adamtsl5	A	G	10: 80,341,901	F309S	probably damaging	Het
Ankle1	C	T	8: 71,407,417	T213I	probably damaging	Het
C4b	A	G	17: 34,739,777	S528P	probably benign	Het
Camk2a	A	G	18: 60,957,366	Y222C	probably damaging	Het
Cnst	A	G	1: 179,622,888	D639G	probably damaging	Het
Ctbp2	A	C	7: 133,014,599	S202R	probably benign	Het
Cwf19l2	G	T	9: 3,460,107	L798F	probably damaging	Het
Cyp11a1	T	A	9: 58,016,384	V124E	possibly damaging	Het
Ddx3y	C	T	Y: 1,266,594		probably null	Het
Dlst	G	T	12: 85,130,518	R346L	probably benign	Het
Dnah2	A	G	11: 69,518,428	S375P	probably damaging	Het
Dnm3	T	A	1: 162,355,371	Y125F	probably benign	Het
Efr3a	T	A	15: 65,848,135		probably null	Het
Egln1	A	T	8: 124,914,140	I319N	possibly damaging	Het
Gata3	T	A	2: 9,858,650	N351I	probably damaging	Het
Gjc1	T	C	11: 102,800,094	N361S	probably benign	Het
Gpcpd1	T	C	2: 132,534,739	T546A	probably damaging	Het
Gpihbp1	T	C	15: 75,597,942	F169L	probably benign	Het
Gpnmb	A	T	6: 49,050,466	I375L	possibly damaging	Het
Itpka	A	T	2: 119,750,513	T381S	probably benign	Het
Lhx4	T	C	1: 155,741,963		probably benign	Het
Lrguk	T	C	6: 34,129,194	L718P	probably benign	Het
Mmp1a	TG	TGG	9: 7,465,083		probably null	Het
Nr1d1	T	A	11: 98,769,711	T477S	probably benign	Het
Nxnl1	A	T	8: 71,566,526	D18E	probably damaging	Het
Olfr1434	T	A	19: 12,283,341	C98S	probably damaging	Het
Olfr620	T	C	7: 103,611,693	Y220C	possibly damaging	Het
Onecut2	G	T	18: 64,341,587	R403L	probably damaging	Het
Pla2r1	T	C	2: 60,428,514	T1177A	possibly damaging	Het
Prkd2	T	C	7: 16,853,344	V405A	probably benign	Het
Ranbp1	T	C	16: 18,245,297	T72A	probably damaging	Het
Retnla	A	C	16: 48,843,614	R90S	probably benign	Het
Sec31b	A	T	19: 44,526,230	I385N	probably damaging	Het
Slc6a19	C	T	13: 73,700,464	R57H	probably damaging	Het
Smurf1	T	C	5: 144,899,373	D110G	probably damaging	Het
Specc1	A	G	11: 62,219,361	Y975C	probably damaging	Het
Tas2r136	T	A	6: 132,777,636	N176I	possibly damaging	Het
Tecrl	A	C	5: 83,279,341	V320G	probably benign	Het
Tmem245	A	G	4: 56,924,973		probably null	Het
Tpd52l1	T	A	10: 31,338,182		probably null	Het
Trbv2	A	G	6: 41,047,974	Y108C	probably damaging	Het
Trpm7	T	C	2: 126,797,498	M1689V	probably benign	Het
Usp24	A	G	4: 106,409,400	Y1855C	probably damaging	Het
Usp9y	A	T	Y: 1,384,354	S721R	possibly damaging	Het
Vwf	G	A	6: 125,628,476		probably null	Het
Washc4	T	A	10: 83,573,773		probably null	Het
Yeats4	G	A	10: 117,220,559	H71Y	possibly damaging	Het
Zbtb38	A	C	9: 96,688,936	L32V	probably damaging	Het
Zfy1	T	C	Y: 725,519	T749A	possibly damaging	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
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
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'- TCAGGAGTATTTCAGACCCCAAC -3'
(R):5'- GAAAGTCATCTGTTTCTCTGCGG -3'

Sequencing Primer
(F):5'- GGAGTATTTCAGACCCCAACACTTC -3'
(R):5'- GAGCTCACACACAGTGTTTG -3'

Posted On

2019-12-20