Mutagenetix > Incidental Mutation

Incidental Mutation 'R1535:Dock9'

166918

Institutional Source

Beutler Lab

Gene Symbol

Dock9

Ensembl Gene

ENSMUSG00000025558

Gene Name

dedicator of cytokinesis 9

Synonyms

D14Wsu89e, Zizimin1, B230309H04Rik

MMRRC Submission

039574-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1535 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

121542046-121797837 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 121546064 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Lysine at position 2041 (E2041K)

Ref Sequence

ENSEMBL: ENSMUSP00000047881 (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: E2041K

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000047881
Gene: ENSMUSG00000025558
AA Change: E2041K

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 benign
Transcript: ENSMUST00000100299
AA Change: E1986K

PolyPhen 2 Score 0.313 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000097872
Gene: ENSMUSG00000025558
AA Change: E1986K

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 benign
Transcript: ENSMUST00000212181
AA Change: E2016K

PolyPhen 2 Score 0.127 (Sensitivity: 0.93; Specificity: 0.86)

Predicted Effect

probably benign
Transcript: ENSMUST00000212376
AA Change: E2008K

PolyPhen 2 Score 0.114 (Sensitivity: 0.93; Specificity: 0.86)

Predicted Effect

probably benign
Transcript: ENSMUST00000212416

Meta Mutation Damage Score

0.1083

Coding Region Coverage

1x: 99.2%
3x: 98.3%
10x: 96.4%
20x: 93.2%

Validation Efficiency

100% (75/75)

Allele List at MGI

Other mutations in this stock

Total: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110032A03Rik	C	T	9: 50,764,007	R40Q	probably damaging	Het
3110009E18Rik	T	C	1: 120,171,473	S99P	possibly damaging	Het
4932431P20Rik	C	T	7: 29,529,579		noncoding transcript	Het
Abca16	T	A	7: 120,540,705	I1530N	probably benign	Het
Abcc9	T	G	6: 142,664,635	Q601P	probably damaging	Het
Acap3	A	G	4: 155,896,174		probably benign	Het
Adamts16	A	T	13: 70,791,794		probably null	Het
Alpk2	G	C	18: 65,350,204	S244R	probably benign	Het
Atp8b1	C	T	18: 64,545,264	V854M	probably damaging	Het
Bend5	C	A	4: 111,459,763	D374E	probably benign	Het
Catsperg2	T	C	7: 29,698,246	D1014G	possibly damaging	Het
Ccer2	G	T	7: 28,757,397	G189*	probably null	Het
Ces2h	A	G	8: 105,014,486	T37A	probably benign	Het
Cmah	T	C	13: 24,439,220	F213L	probably damaging	Het
Cntn2	T	C	1: 132,525,384	E390G	probably benign	Het
Coq7	C	T	7: 118,529,674	R46Q	possibly damaging	Het
Cpb1	T	A	3: 20,266,287	D136V	probably benign	Het
Cxcr2	T	C	1: 74,159,058	L237P	probably damaging	Het
Daam1	T	C	12: 71,951,918	L549P	unknown	Het
Diaph1	A	G	18: 37,896,093		probably null	Het
Dis3	G	T	14: 99,079,426	Q825K	probably damaging	Het
Dnah11	C	T	12: 118,018,730	R2568Q	probably damaging	Het
Dnah12	A	T	14: 26,816,322	R2312S	possibly damaging	Het
Doxl2	T	C	6: 48,975,464	F108L	probably damaging	Het
Eci1	A	G	17: 24,439,090	E282G	probably benign	Het
Egf	T	A	3: 129,690,778	T464S	probably benign	Het
Eif4g3	C	T	4: 138,097,302	P97S	probably damaging	Het
Emsy	A	G	7: 98,593,737	V1065A	possibly damaging	Het
Ep400	G	T	5: 110,708,166		probably benign	Het
Fam13a	A	C	6: 58,939,347	I607S	probably damaging	Het
Fam241b	A	G	10: 62,108,949	S113P	probably damaging	Het
Fbxl21	A	T	13: 56,523,527	M1L	probably benign	Het
Fnip2	C	A	3: 79,481,765	C553F	probably damaging	Het
Frmd3	G	T	4: 74,013,758		probably benign	Het
Gm597	T	C	1: 28,777,424	E509G	probably damaging	Het
Gm9745	A	T	13: 8,940,644		probably benign	Het
Grm4	G	A	17: 27,434,801	S470L	probably benign	Het
Gucy2e	T	A	11: 69,226,244	I784F	probably damaging	Het
H1fx	T	C	6: 87,981,148	Y70C	probably damaging	Het
Hmcn2	A	T	2: 31,420,407	T3338S	possibly damaging	Het
Idh1	C	T	1: 65,168,538	G161R	probably damaging	Het
Idi1	T	C	13: 8,886,909		probably benign	Het
Kcnq2	C	T	2: 181,134,825	G90S	probably damaging	Het
Klhl29	A	G	12: 5,084,486	Y642H	probably damaging	Het
Lmtk3	T	A	7: 45,794,570		probably benign	Het
Macf1	A	T	4: 123,440,693	F4420I	probably benign	Het
Me1	A	G	9: 86,587,043	S470P	probably damaging	Het
Mfsd2b	A	G	12: 4,870,605	S71P	probably damaging	Het
Mfsd3	T	C	15: 76,702,779	L273P	probably damaging	Het
Mical1	A	G	10: 41,485,211	K757R	possibly damaging	Het
Myh9	A	T	15: 77,777,813	V782D	probably damaging	Het
Nab2	C	G	10: 127,665,047	E59Q	probably damaging	Het
Nfyc	A	T	4: 120,761,724	N244K	probably damaging	Het
Nupr1l	A	G	5: 129,908,831	I80M	probably damaging	Het
Olfr1229	T	C	2: 89,283,057	I46M	probably benign	Het
Olfr583	A	G	7: 103,051,369	T24A	probably benign	Het
Olfr76	A	G	19: 12,120,332	C115R	probably damaging	Het
Pkn3	A	G	2: 30,087,053	T602A	probably benign	Het
Prrc2b	T	A	2: 32,204,289	V561D	probably benign	Het
Psd2	T	A	18: 36,005,790	V489E	probably benign	Het
Rasal2	T	C	1: 157,230,059	T181A	probably benign	Het
Serpinb13	T	C	1: 106,982,156	M1T	probably null	Het
Sgsm1	A	T	5: 113,263,269	S864T	possibly damaging	Het
Slc5a10	C	A	11: 61,673,941	G404V	possibly damaging	Het
Slc6a1	G	T	6: 114,307,770	G263V	probably damaging	Het
Son	A	G	16: 91,659,734	K1790E	probably damaging	Het
Syde2	A	G	3: 146,002,421		probably benign	Het
Tmem126a	T	C	7: 90,452,818	I58V	probably benign	Het
Vmn2r8	T	C	5: 108,802,174	Y269C	probably damaging	Het
Yeats2	T	A	16: 20,189,365	S416T	probably damaging	Het
Zfp40	A	T	17: 23,175,869	H513Q	probably 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
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
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'- ACGTGCTGCTTGCTTCTCTGAG -3'
(R):5'- AGGTAAAGCCCACCGAAAGTTTCTC -3'

Sequencing Primer
(F):5'- TCTGGACTACTGGAAGACTTAGC -3'
(R):5'- agcaaacagcagaggcag -3'

Posted On

2014-04-13