Mutagenetix > Incidental Mutations

Incidental Mutation 'R6919:Dock9'

539536

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 #

R6919 (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 121643152 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 333 (V333E)

Ref Sequence

ENSEMBL: ENSMUSP00000047881 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000040700
AA Change: V333E

PolyPhen 2 Score 0.421 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000047881
Gene: ENSMUSG00000025558
AA Change: V333E

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: V335E

PolyPhen 2 Score 0.043 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000097872
Gene: ENSMUSG00000025558
AA Change: V335E

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: V333E

PolyPhen 2 Score 0.067 (Sensitivity: 0.94; Specificity: 0.84)

Predicted Effect

probably benign
Transcript: ENSMUST00000212376
AA Change: V347E

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.3%
20x: 97.8%

Validation Efficiency

99% (84/85)

Allele List at MGI

Other mutations in this stock

Total: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700086D15Rik	A	G	11: 65,152,530		probably benign	Het
4931408C20Rik	T	C	1: 26,682,934	Y1055C	probably benign	Het
6430548M08Rik	T	C	8: 120,145,482	S50P	probably damaging	Het
Aacs	A	G	5: 125,506,163	D261G	probably benign	Het
Abcc4	T	A	14: 118,594,894	T775S	probably benign	Het
Acsl6	A	G	11: 54,341,756		probably null	Het
Agbl5	T	A	5: 30,904,717	F196I	probably benign	Het
Ahnak2	T	C	12: 112,774,684	T985A	possibly damaging	Het
Ak1	A	T	2: 32,631,122	D101V	possibly damaging	Het
Alx1	A	G	10: 103,025,200	Y156H	probably damaging	Het
Angptl7	T	A	4: 148,500,031	S87C	probably benign	Het
Ankrd36	A	G	11: 5,629,299	T188A	probably benign	Het
Arhgap11a	A	C	2: 113,839,709	S356R	possibly damaging	Het
Ascc3	G	T	10: 50,645,753	E455*	probably null	Het
Atp6v0a2	G	A	5: 124,712,161		probably null	Het
B3gnt7	T	C	1: 86,305,694	W104R	probably damaging	Het
Bbs9	G	A	9: 22,812,544		probably null	Het
Cc2d2a	T	A	5: 43,703,215	D544E	probably benign	Het
Cic	C	T	7: 25,271,777	T311I	probably benign	Het
Cngb1	T	A	8: 95,248,375	R1157W	probably null	Het
Cntln	A	G	4: 85,115,368	H1310R	probably benign	Het
Cntnap5c	A	T	17: 58,293,953	I764F	probably benign	Het
Col26a1	T	C	5: 136,744,234	Q362R	possibly damaging	Het
Cyp2c29	G	A	19: 39,291,141	R100K	probably benign	Het
D17H6S53E	C	G	17: 35,127,246	D44E	probably damaging	Het
Dap3	A	G	3: 88,930,989	V65A	probably damaging	Het
Dna2	A	T	10: 62,957,003	I266F	probably damaging	Het
Dnah14	G	A	1: 181,585,066	G57E	probably benign	Het
Dpm1	A	G	2: 168,230,275	Y27H	probably damaging	Het
Dsp	A	T	13: 38,167,655	Y150F	possibly damaging	Het
Emilin3	A	T	2: 160,908,098	I577N	probably damaging	Het
Erap1	A	G	13: 74,671,433	T189A	probably benign	Het
Fam208a	T	A	14: 27,449,801	L397*	probably null	Het
Fat2	A	G	11: 55,282,771	I2372T	possibly damaging	Het
Fbn2	A	T	18: 58,124,187		probably null	Het
Gnl1	A	T	17: 35,987,533	R390*	probably null	Het
Hivep1	A	G	13: 42,183,452	I2336V	probably benign	Het
Il17rb	C	G	14: 30,004,271		probably null	Het
Itga9	T	C	9: 118,887,815	W396R	probably damaging	Het
Katnal2	A	G	18: 77,011,038	V152A	probably benign	Het
Kcnk3	A	G	5: 30,622,400	T265A	probably benign	Het
Klhl1	T	C	14: 96,136,594	Y672C	probably benign	Het
Leng8	C	A	7: 4,143,626	N412K	possibly damaging	Het
Lrrc9	T	A	12: 72,506,393	F1356L	probably benign	Het
Map7	A	G	10: 20,171,082		probably benign	Het
Mei1	T	C	15: 82,081,930	F251S	probably damaging	Het
Mia2	A	G	12: 59,129,895	E9G	possibly damaging	Het
Ms4a13	C	A	19: 11,171,885	W182C	probably benign	Het
Muc16	C	T	9: 18,660,299	R308K	unknown	Het
Olfr1195	G	A	2: 88,683,684	T16I	possibly damaging	Het
Olfr936	A	G	9: 39,047,531		probably benign	Het
Pcnt	A	G	10: 76,385,798	V1998A	probably benign	Het
Pgm1	A	T	5: 64,097,025	N51I	probably benign	Het
Piezo1	T	A	8: 122,490,281	H1333L	probably damaging	Het
Prg2	G	A	2: 84,983,256	V199M	probably damaging	Het
Prss51	T	C	14: 64,097,488	V182A	probably damaging	Het
Psmb9	A	T	17: 34,183,225	Y132*	probably null	Het
Ralyl	T	C	3: 13,777,031	Y76H	probably damaging	Het
Rnaset2a	A	T	17: 8,130,282	D174E	probably benign	Het
Rnft1	G	A	11: 86,495,330		probably null	Het
Robo2	T	C	16: 73,961,867	Y676C	probably damaging	Het
Samd9l	T	G	6: 3,376,313	Y316S	possibly damaging	Het
Siah3	T	A	14: 75,456,138	F28Y	possibly damaging	Het
Slc28a3	C	T	13: 58,573,443		probably null	Het
Slc8a1	A	G	17: 81,388,872	F911S	probably damaging	Het
Speg	T	A	1: 75,387,908	L156*	probably null	Het
Spopl	T	G	2: 23,517,861	M269L	probably benign	Het
Tacr1	C	T	6: 82,557,073	T360I	probably benign	Het
Tmem262	A	G	19: 6,080,737	E95G	probably benign	Het
Tmem68	G	T	4: 3,569,669	T7N	possibly damaging	Het
Top3a	T	A	11: 60,749,493	I460F	probably damaging	Het
Trafd1	G	A	5: 121,384,074	R5*	probably null	Het
Trim16	T	A	11: 62,840,869	V435D	possibly damaging	Het
Tspan17	A	G	13: 54,796,033	D236G	probably damaging	Het
Tssk2	A	T	16: 17,899,701	M323L	probably benign	Het
Ubqln5	A	G	7: 104,129,008	V203A	probably benign	Het
Utrn	A	T	10: 12,693,470	L1134*	probably null	Het
Vmn1r37	C	T	6: 66,731,720	S73F	possibly damaging	Het
Vps13c	A	G	9: 67,927,452	K1688E	probably damaging	Het
Zbtb39	A	G	10: 127,741,842	D95G	probably damaging	Het
Zfhx3	T	A	8: 108,800,528	I1019N	probably damaging	Het
Zfp207	C	T	11: 80,395,503		probably benign	Het
Zmiz1	C	T	14: 25,643,638	T169M	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
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
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	not run
Z1088:Dock9	UTSW	14	121555275	missense	probably damaging	1.00
Z1176:Dock9	UTSW	14	121651782	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- ATACGGACGGTCACTGTGAA -3'
(R):5'- GCCACATTTGTAGATGAATCTGTAT -3'

Sequencing Primer
(F):5'- TGTGAACCTCAAGATCCAGGCTG -3'
(R):5'- CCAACTCTGGGTGAAGCATTC -3'

Posted On

2018-11-06