Mutagenetix > Incidental Mutation

Incidental Mutation 'R9233:Dock9'

700387

Institutional Source

Beutler Lab

Gene Symbol

Dock9

Ensembl Gene

ENSMUSG00000025558

Gene Name

dedicator of cytokinesis 9

Synonyms

D14Wsu89e, Zizimin1, B230309H04Rik

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9233 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

121542046-121797837 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 121583369 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 1538 (T1538S)

Ref Sequence

ENSEMBL: ENSMUSP00000148834 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000040700] [ENSMUST00000100299] [ENSMUST00000212181] [ENSMUST00000212376] [ENSMUST00000212416]

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000040700
AA Change: T1537S

PolyPhen 2 Score 0.658 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000047881
Gene: ENSMUSG00000025558
AA Change: T1537S

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: T1508S

PolyPhen 2 Score 0.681 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000097872
Gene: ENSMUSG00000025558
AA Change: T1508S

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: T1538S

PolyPhen 2 Score 0.086 (Sensitivity: 0.93; Specificity: 0.85)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000212376
AA Change: T1528S

PolyPhen 2 Score 0.812 (Sensitivity: 0.84; Specificity: 0.93)

Predicted Effect

probably benign
Transcript: ENSMUST00000212416

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9530053A07Rik	A	G	7: 28,140,094	Y444C	possibly damaging	Het
Abca6	G	T	11: 110,191,670	T1159K	probably benign	Het
Acap1	A	G	11: 69,884,658	V479A	probably benign	Het
Actl11	A	G	9: 107,930,701	E741G	possibly damaging	Het
Anp32b	A	T	4: 46,463,909	I103F	probably damaging	Het
Ap4m1	C	T	5: 138,178,391	R418*	probably null	Het
Asic3	G	A	5: 24,413,839	R43H	probably damaging	Het
BC067074	A	T	13: 113,366,220	Y100F		Het
Bsn	A	G	9: 108,117,090	V662A	probably benign	Het
Cacna1a	C	T	8: 84,544,654	R479C	probably damaging	Het
Chchd3	A	T	6: 32,803,910	C214S	probably damaging	Het
Dyrk1a	A	G	16: 94,666,054	M156V	probably benign	Het
Dzip1	T	C	14: 118,887,223	Q546R	probably benign	Het
Eef2	T	C	10: 81,178,834	V185A	probably benign	Het
Etv4	A	C	11: 101,771,706	V314G	probably damaging	Het
F5	T	A	1: 164,219,451	I2160N	probably damaging	Het
Fam160b1	T	A	19: 57,380,666	F360L	probably damaging	Het
Fbp2	A	T	13: 62,841,808	V228E	possibly damaging	Het
Gcc1	A	G	6: 28,418,711	L541P	probably damaging	Het
Gemin4	A	G	11: 76,213,116	I273T	possibly damaging	Het
Gm32742	T	C	9: 51,145,087	K1193E	possibly damaging	Het
Gmps	C	T	3: 64,016,712	P687L	probably damaging	Het
Gpr162	A	G	6: 124,859,051	L462P	possibly damaging	Het
Hps4	G	A	5: 112,378,039	S642N	possibly damaging	Het
Hspa12b	T	C	2: 131,134,116	Y13H	probably damaging	Het
Kcnh8	A	C	17: 52,978,140	E1046A	probably damaging	Het
Kcnk12	T	A	17: 87,746,110	T375S	probably benign	Het
Kdm4a	A	G	4: 118,146,996		probably null	Het
Klhl5	G	T	5: 65,143,330	V219L	possibly damaging	Het
Kpna1	A	T	16: 36,033,423	E474D	probably damaging	Het
Lama5	A	T	2: 180,198,709	Y632*	probably null	Het
Lias	A	G	5: 65,393,988	N88S	probably benign	Het
Mei1	C	T	15: 82,089,551	R80C		Het
Micalcl	T	G	7: 112,382,192	S458A	probably benign	Het
Mrps33	A	G	6: 39,805,513	S25P	probably benign	Het
Mttp	T	A	3: 138,116,519	D169V	probably damaging	Het
Npdc1	A	G	2: 25,406,317	E72G	probably damaging	Het
Nsrp1	G	A	11: 77,046,210	R387W	probably benign	Het
Pcnx4	A	G	12: 72,556,813	T503A	possibly damaging	Het
Peg10	CCACATCAGGATCCACATCAGGATGCACATCAGCATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAG	CCACATCAGGATCCACATCAGGATGCACATCAG	6: 4,756,398		probably benign	Het
Pigu	C	T	2: 155,336,690	V83I	possibly damaging	Het
Ppcs	G	A	4: 119,422,200	R52*	probably null	Het
Rbm33	A	G	5: 28,339,241	E165G	probably benign	Het
Rnf5	A	T	17: 34,603,352	V41E	possibly damaging	Het
Ror2	T	C	13: 53,111,554	T501A	probably benign	Het
Rps17	T	G	7: 81,343,749	M105L	probably benign	Het
Ryr2	A	T	13: 11,595,886	M4018K	possibly damaging	Het
Scarf1	A	G	11: 75,525,894	M721V	probably benign	Het
Scgb1b30	A	G	7: 34,099,759	T39A	probably damaging	Het
Selenoo	T	C	15: 89,099,841	V620A	probably damaging	Het
Slfn8	A	C	11: 83,003,596	I739R	probably damaging	Het
Smc6	A	G	12: 11,309,290	T972A	probably benign	Het
Spred1	G	A	2: 117,172,163	R221H	unknown	Het
Stag1	T	A	9: 100,929,971	M834K	probably benign	Het
Taf1a	T	C	1: 183,400,724	I177T	possibly damaging	Het
Tcam1	G	A	11: 106,284,192	D158N	probably benign	Het
Tcirg1	G	T	19: 3,902,543	T275K	probably damaging	Het
Tmco1	C	T	1: 167,308,563		probably benign	Het
Tor1b	A	C	2: 30,954,003	I151L	probably benign	Het
Trappc12	T	A	12: 28,722,415	Q471L	possibly damaging	Het
Trim28	G	A	7: 13,029,563	A544T	probably benign	Het
Ugt2a2	G	A	5: 87,465,413	P288S	probably damaging	Het
Vmn1r157	T	C	7: 22,761,956	L87P	probably damaging	Het
Vmn1r188	A	G	13: 22,088,229	R118G	probably benign	Het
Vps13d	G	A	4: 145,152,774	T1493I		Het
Xrra1	T	G	7: 99,867,367	M6R	probably benign	Het
Zfp142	T	C	1: 74,571,129	E1169G	probably benign	Het
Zfp738	G	T	13: 67,670,898	R325S	possibly damaging	Het
Zmym4	A	G	4: 126,882,517	M1209T	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
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'- ATGATGAGACATGCCAGGCC -3'
(R):5'- CAGTCTCGCTGGTGATTACG -3'

Sequencing Primer
(F):5'- CAGGCCAGGCTCTGTAAGAAC -3'
(R):5'- AGGAGCACTGACCTCTCTG -3'

Posted On

2022-02-07