Mutagenetix > Incidental Mutation

Incidental Mutation 'R9701:Dock9'

729594

Institutional Source

Beutler Lab

Gene Symbol

Dock9

Ensembl Gene

ENSMUSG00000025558

Gene Name

dedicator of cytokinesis 9

Synonyms

D14Wsu89e, Zizimin1, B230309H04Rik

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9701 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

121542046-121797837 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 121639571 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Serine at position 463 (C463S)

Ref Sequence

ENSEMBL: ENSMUSP00000148834 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000040700
AA Change: C463S

PolyPhen 2 Score 0.089 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000047881
Gene: ENSMUSG00000025558
AA Change: C463S

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: C465S

PolyPhen 2 Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000097872
Gene: ENSMUSG00000025558
AA Change: C465S

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: C463S

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)

Predicted Effect

probably benign
Transcript: ENSMUST00000212376
AA Change: C477S

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc8	T	C	7: 46,136,630	D673G	probably benign	Het
Alg8	T	A	7: 97,378,279	V118E	possibly damaging	Het
Ap4e1	T	C	2: 127,033,643	V218A	probably benign	Het
Armc12	A	T	17: 28,532,401	D123V	probably damaging	Het
Bms1	T	A	6: 118,391,186	K1039I	probably damaging	Het
Col4a2	A	G	8: 11,443,104	N1299S	probably benign	Het
Cux1	T	C	5: 136,314,315	D405G	probably damaging	Het
Cwf19l2	A	T	9: 3,430,454	Q262L	probably damaging	Het
Dclk3	A	G	9: 111,469,176	D596G	probably damaging	Het
Dnah7a	A	T	1: 53,522,229	C2090S	probably benign	Het
Dock7	T	C	4: 98,958,147	D1749G	unknown	Het
Dyrk1b	G	A	7: 28,186,413	R548Q	probably damaging	Het
Egr1	T	C	18: 34,862,621	F152S	probably damaging	Het
Eln	C	A	5: 134,715,705	A479S	unknown	Het
Gm973	T	A	1: 59,526,873	W84R	possibly damaging	Het
Gnpat	A	G	8: 124,886,939	K642E	probably benign	Het
Gpr180	G	A	14: 118,153,890	G235R	probably damaging	Het
Gpx6	A	T	13: 21,317,607	Q133L	probably benign	Het
Gzmn	T	C	14: 56,167,853	Y58C	probably benign	Het
Hcfc2	G	T	10: 82,738,435	G148*	probably null	Het
Hspa5	C	T	2: 34,774,637	R368*	probably null	Het
Igkv3-10	T	C	6: 70,573,017	V49A	probably damaging	Het
Inpp5f	A	C	7: 128,676,791	D435A	possibly damaging	Het
Jmjd1c	A	T	10: 67,224,966	I852F	possibly damaging	Het
Lhx5	T	A	5: 120,434,598	V94E	possibly damaging	Het
Map1s	C	T	8: 70,917,068	T928I	possibly damaging	Het
Mib1	T	A	18: 10,798,494	L785H	probably damaging	Het
Mrgpra6	C	T	7: 47,185,785	R296K	probably benign	Het
Mrpl9	A	G	3: 94,444,585		probably null	Het
Mutyh	A	G	4: 116,819,288	S486G	probably benign	Het
Naa15	T	A	3: 51,441,949	Y96*	probably null	Het
Nlrp1a	T	C	11: 71,097,120	S1175G	probably benign	Het
Nup153	A	T	13: 46,686,735	D1132E	probably benign	Het
Nxf1	G	A	19: 8,762,408	G42D	probably damaging	Het
Olfr71	C	A	4: 43,705,793	M258I	probably benign	Het
Plekhg6	C	T	6: 125,370,639	V451I	probably benign	Het
Prkab1	T	C	5: 116,024,215	E12G	probably benign	Het
Ptprd	A	G	4: 75,998,659	Y752H	probably damaging	Het
Rbm12	A	G	2: 156,096,246	I702T	probably benign	Het
Rnf212	A	G	5: 108,774,872		probably null	Het
Sall3	C	A	18: 80,974,228	A162S	probably benign	Het
Sec24d	T	C	3: 123,269,672	S13P	probably damaging	Het
Serpina16	T	C	12: 103,672,614	Q238R	probably benign	Het
Shank1	G	A	7: 44,312,918	S71N	unknown	Het
Skint3	T	A	4: 112,253,897	V73E	probably damaging	Het
Slc6a20a	T	A	9: 123,660,520	T153S	probably damaging	Het
Slc6a6	T	C	6: 91,723,497	Y69H	probably damaging	Het
Sorl1	A	G	9: 42,092,470	Y177H	probably damaging	Het
Srbd1	T	C	17: 86,126,131	Y346C	probably damaging	Het
Syne2	A	G	12: 75,990,423	E3792G	probably damaging	Het
Tg	C	G	15: 66,766,142	T2268S	probably benign	Het
Thbs1	A	G	2: 118,120,235	N721S	probably benign	Het
Treh	A	G	9: 44,683,351	Y275C	probably damaging	Het
Trpv5	G	T	6: 41,674,660	H195N	possibly damaging	Het
Tshz1	A	G	18: 84,014,454	S610P	possibly damaging	Het
Ttll4	A	G	1: 74,681,323	N499S	probably benign	Het
Ttn	G	T	2: 76,918,583	H4041N	probably benign	Het
Ubtf	A	G	11: 102,308,892		probably null	Het
Uhrf1bp1l	G	A	10: 89,779,893	V133I	probably benign	Het
Urod	C	T	4: 116,992,581	V207M	probably damaging	Het
Vegfa	G	A	17: 46,031,787	P35L	probably damaging	Het
Zc3h7b	C	T	15: 81,792,304	P749L	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
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
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'- TTGCACGCAGAACCATCTCC -3'
(R):5'- TTGAGCAGATATGGGCTGAG -3'

Sequencing Primer
(F):5'- CCCAGGTTTGTAATTTGGCAC -3'
(R):5'- TGAGGAGCCCCTGAGCG -3'

Posted On

2022-10-06