Mutagenetix > Incidental Mutations

Incidental Mutation 'R1637:Dock9'

173266

Institutional Source

Beutler Lab

Gene Symbol

Dock9

Ensembl Gene

ENSMUSG00000025558

Gene Name

dedicator of cytokinesis 9

Synonyms

D14Wsu89e, Zizimin1, B230309H04Rik

MMRRC Submission

039673-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1637 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

121542046-121797837 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 121651775 bp

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 312 (D312V)

Ref Sequence

ENSEMBL: ENSMUSP00000097872 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000040700
AA Change: D310V

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000047881
Gene: ENSMUSG00000025558
AA Change: D310V

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

possibly damaging
Transcript: ENSMUST00000100299
AA Change: D312V

PolyPhen 2 Score 0.656 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000097872
Gene: ENSMUSG00000025558
AA Change: D312V

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 benign
Transcript: ENSMUST00000212181
AA Change: D310V

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)

Predicted Effect

probably benign
Transcript: ENSMUST00000212376
AA Change: D324V

PolyPhen 2 Score 0.122 (Sensitivity: 0.93; Specificity: 0.86)

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.4%
20x: 92.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930522L14Rik	T	A	5: 109,738,992	H50L	probably benign	Het
A2m	C	A	6: 121,654,612	L623M	probably benign	Het
Agpat5	A	G	8: 18,881,811	R316G	probably benign	Het
Ankrd39	G	A	1: 36,539,492	Q151*	probably null	Het
Arl13b	T	C	16: 62,830,784	D30G	probably damaging	Het
Atpaf1	A	G	4: 115,788,302	S123G	probably benign	Het
Bicra	A	G	7: 15,972,689	S1276P	probably benign	Het
Car1	T	C	3: 14,777,786	I60V	possibly damaging	Het
Cnbd2	A	G	2: 156,373,724	I411V	probably damaging	Het
Cyp2c37	A	T	19: 40,001,982	K375*	probably null	Het
Cysrt1	T	C	2: 25,239,285	I72V	probably benign	Het
Ecd	T	C	14: 20,346,692	I42V	probably damaging	Het
Ercc5	A	G	1: 44,167,534	T536A	probably benign	Het
Gjd2	A	T	2: 114,011,308	Y229*	probably null	Het
Gramd1b	A	T	9: 40,304,538		probably null	Het
Hcrtr2	T	C	9: 76,232,999	T336A	probably benign	Het
Hjurp	G	A	1: 88,266,121	S279F	probably benign	Het
Ift140	C	T	17: 25,025,634	L152F	probably benign	Het
Izumo1r	A	G	9: 14,901,809	C56R	probably damaging	Het
Kif7	T	C	7: 79,702,837	E850G	probably damaging	Het
Larp4b	C	G	13: 9,151,097	T335S	probably benign	Het
Lmo7	A	T	14: 101,880,832	R42S	probably damaging	Het
Lrrk2	T	G	15: 91,734,058	L920R	probably benign	Het
Mapk8	G	A	14: 33,410,962	R6C	probably benign	Het
Mpped1	C	T	15: 83,791,990		probably benign	Het
Myoc	A	G	1: 162,639,367	Y35C	probably damaging	Het
Ndufb8	C	T	19: 44,555,035	M66I	probably benign	Het
Nkpd1	T	C	7: 19,523,979	I411T	probably benign	Het
Nrxn3	A	G	12: 89,354,468	N382S	possibly damaging	Het
Olfr1219	A	T	2: 89,075,052	L13Q	probably damaging	Het
Olfr328	A	T	11: 58,551,420	V273E	possibly damaging	Het
Pear1	T	C	3: 87,756,753	E303G	probably damaging	Het
Plekhg4	T	A	8: 105,381,781	M1047K	probably benign	Het
Pofut1	T	G	2: 153,265,789	F268C	probably damaging	Het
Psrc1	G	T	3: 108,385,293	S134I	probably damaging	Het
Slc6a2	A	T	8: 92,981,990	I245F	probably benign	Het
Slc9a1	T	C	4: 133,422,223	S787P	probably benign	Het
Sorcs3	T	A	19: 48,748,359		probably null	Het
Syne2	C	A	12: 75,996,002	H3916N	probably damaging	Het
Taar6	A	G	10: 23,985,181	S156P	probably benign	Het
Tnn	A	G	1: 160,147,600	F86L	probably damaging	Het
Tspear	T	A	10: 77,870,419	L341H	possibly damaging	Het
Ttll8	A	G	15: 88,914,444	V696A	probably benign	Het
Utrn	C	A	10: 12,436,364	D616Y	probably damaging	Het
Vmn2r18	A	T	5: 151,584,757	C301S	probably damaging	Het
Xdh	T	C	17: 73,900,578	Y928C	probably benign	Het
Zfand1	G	A	3: 10,345,982	A104V	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
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
Z1088:Dock9	UTSW	14	121555275	missense	probably damaging	1.00
Z1176:Dock9	UTSW	14	121651782	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- CAGACTGAAGTGTCTGTCACTCGTG -3'
(R):5'- GATGGAGTGTGGCTGACATCAGTTC -3'

Sequencing Primer
(F):5'- CTGTCACTCGTGTAAAATAATTCCC -3'
(R):5'- AGCGGATTTTAGCTGTACAAGG -3'

Posted On

2014-04-24