Mutagenetix > Incidental Mutation

Incidental Mutation 'R6826:Dock9'

534183

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 #

R6826 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

121542046-121797837 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 121622918 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Proline to Leucine at position 866 (P866L)

Ref Sequence

ENSEMBL: ENSMUSP00000097872 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000040700
AA Change: P864L

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

SMART Domains

Protein: ENSMUSP00000047881
Gene: ENSMUSG00000025558
AA Change: P864L

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: P866L

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

SMART Domains

Protein: ENSMUSP00000097872
Gene: ENSMUSG00000025558
AA Change: P866L

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 damaging
Transcript: ENSMUST00000212181
AA Change: P864L

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

Predicted Effect

probably benign
Transcript: ENSMUST00000212376
AA Change: P878L

PolyPhen 2 Score 0.424 (Sensitivity: 0.89; Specificity: 0.90)

Meta Mutation Damage Score

0.8884

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.6%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca6	T	C	11: 110,216,605	N728S	probably benign	Het
Acaca	T	C	11: 84,195,536	S63P	probably damaging	Het
Akr1c12	A	G	13: 4,275,734	V120A	probably benign	Het
Ap4b1	G	A	3: 103,812,908		probably null	Het
Apol7e	T	A	15: 77,718,291	V363D	probably damaging	Het
Bmpr1b	A	T	3: 141,857,406	L259Q	probably damaging	Het
Clca3a2	T	C	3: 144,818,054	T57A	possibly damaging	Het
Copb1	T	C	7: 114,226,719	T677A	probably benign	Het
Crhr2	T	C	6: 55,117,740		probably benign	Het
Cyp11a1	A	G	9: 58,025,087	T228A	probably damaging	Het
Dnah1	T	C	14: 31,286,290	I2084V	probably benign	Het
Dnajc17	T	C	2: 119,180,927	K174R	probably damaging	Het
Dnm2	T	A	9: 21,504,471	Y646*	probably null	Het
Elmo3	A	T	8: 105,306,746	I115F	probably damaging	Het
Elmod1	T	C	9: 53,919,599	T268A	probably benign	Het
F10	T	C	8: 13,046,165		probably null	Het
Fmo4	C	T	1: 162,803,769	V210M	probably damaging	Het
Foxred2	G	T	15: 77,947,085	H509Q	probably benign	Het
Gm28710	A	G	5: 16,808,294	I219V	unknown	Het
Hyal6	A	G	6: 24,734,372	I101M	probably damaging	Het
Igkv5-48	T	C	6: 69,726,600	Y107C	probably damaging	Het
Jag1	A	G	2: 137,116,175		probably null	Het
Leng8	T	A	7: 4,145,320	V697E	probably damaging	Het
Mdga1	T	C	17: 29,970,026	N21S	unknown	Het
Midn	T	A	10: 80,154,127	C126*	probably null	Het
Mlh3	A	T	12: 85,245,824	V1303E	probably benign	Het
Myh4	T	C	11: 67,246,531	L526P	probably damaging	Het
Olfr1117-ps1	G	A	2: 87,284,328	E13K	probably benign	Het
Olfr1469	T	A	19: 13,411,088	V173E	probably benign	Het
Pde6b	C	T	5: 108,430,592	R799*	probably null	Het
Pde9a	A	G	17: 31,466,440	D382G	probably benign	Het
Pdrg1	A	C	2: 153,010,256		probably null	Het
Peg10	C	CATCAGGATG	6: 4,756,353		probably benign	Het
Ppp1r3a	C	A	6: 14,718,981	E645*	probably null	Het
Prrc2b	A	G	2: 32,222,288		probably null	Het
Ptprb	T	A	10: 116,317,372	M578K	probably benign	Het
Rasgrp3	G	T	17: 75,503,246	V314F	probably damaging	Het
Rps9	C	A	7: 3,705,776	D84E	probably benign	Het
Sdf2l1	C	G	16: 17,132,294	R6P	probably benign	Het
Serpina1e	A	G	12: 103,949,138	F270L	probably benign	Het
Slc24a5	G	A	2: 125,068,858	V70I	probably benign	Het
Slfn14	C	A	11: 83,281,818		probably null	Het
Smcr8	G	T	11: 60,778,862	D279Y	possibly damaging	Het
Snx16	A	T	3: 10,438,088	V33D	probably damaging	Het
Tesc	A	G	5: 118,056,418	T131A	probably damaging	Het
Tnfaip8l3	G	T	9: 54,027,499	T64K	possibly damaging	Het
Vmn2r1	T	A	3: 64,105,146	Y809*	probably null	Het
Vmn2r25	A	G	6: 123,823,112	V757A	probably damaging	Het
Vmn2r3	A	T	3: 64,274,906	Y457*	probably null	Het
Wee1	T	C	7: 110,124,663		probably null	Het
Wfdc3	C	T	2: 164,734,258	G38R	possibly damaging	Het
Zfp541	A	G	7: 16,078,982	E520G	probably damaging	Het
Zfp579	G	T	7: 4,994,426	A162D	probably benign	Het
Zfp811	A	G	17: 32,797,788	F425S	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
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'- TTTCAGAGAGGCTCCAGGTGTG -3'
(R):5'- AGAGGGAGTTCTTCTATCCTTCC -3'

Sequencing Primer
(F):5'- TCCAGGTGTGGACAGACTG -3'
(R):5'- ATGTGAACCTGTTGACCCAG -3'

Posted On

2018-09-12