Mutagenetix > Incidental Mutation

Incidental Mutation 'R9694:Dock9'

735982

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 #

R9694 (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 G at 121581379 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 1564 (S1564P)

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

probably damaging
Transcript: ENSMUST00000040700
AA Change: S1563P

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

SMART Domains

Protein: ENSMUSP00000047881
Gene: ENSMUSG00000025558
AA Change: S1563P

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: S1534P

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

SMART Domains

Protein: ENSMUSP00000097872
Gene: ENSMUSG00000025558
AA Change: S1534P

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: S1564P

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000212376
AA Change: S1554P

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

Predicted Effect

probably benign
Transcript: ENSMUST00000212416

Coding Region Coverage

1x: 99.8%
3x: 99.7%
10x: 99.3%
20x: 98.7%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb1b	T	A	5: 8,849,573	Y948N	probably damaging	Het
Adamts2	A	G	11: 50,668,145	D229G	probably benign	Het
Adamts4	T	C	1: 171,253,961	S395P	probably benign	Het
Adcy1	T	C	11: 7,144,774	Y567H	probably damaging	Het
Agap3	A	G	5: 24,477,141	N212D	probably benign	Het
Atp2a2	A	G	5: 122,459,645	F775S	probably damaging	Het
Baz1b	A	T	5: 135,244,240	Q1406L	probably benign	Het
C030006K11Rik	A	T	15: 76,723,728	V30D	possibly damaging	Het
Ccdc144b	A	G	3: 36,018,943	S397P	possibly damaging	Het
Cep170b	T	A	12: 112,735,559	V262E	probably damaging	Het
Cgnl1	C	T	9: 71,725,521	G183R	probably benign	Het
Chd8	A	G	14: 52,203,884	I2257T	possibly damaging	Het
Chrna7	A	G	7: 63,105,061	I266T	probably damaging	Het
Cyp3a25	A	T	5: 145,986,875	Y319*	probably null	Het
Dcdc2a	A	T	13: 25,102,357	I125F	probably benign	Het
Dcdc2c	A	T	12: 28,535,554	I80N		Het
Dmtn	T	C	14: 70,615,292		probably null	Het
Dock2	T	C	11: 34,268,054	N1172S	probably benign	Het
Dusp27	A	T	1: 166,101,085	S319R	probably damaging	Het
Ecel1	T	C	1: 87,153,131	I350V	possibly damaging	Het
Eif4enif1	C	T	11: 3,220,384	L146F	probably damaging	Het
Ergic1	T	G	17: 26,624,611	D59E	probably benign	Het
F2rl2	A	T	13: 95,701,542	D365V	possibly damaging	Het
Fbxl16	C	T	17: 25,817,839	Q265*	probably null	Het
Fbxw26	T	C	9: 109,746,067		probably benign	Het
Fras1	A	T	5: 96,781,686	Y3983F	probably benign	Het
G6pd2	T	A	5: 61,809,117	D78E	probably benign	Het
Gas2l2	A	C	11: 83,423,344	S381A	possibly damaging	Het
Grk2	G	A	19: 4,288,483	R474C	probably damaging	Het
Gxylt2	T	A	6: 100,733,213	V105E	probably benign	Het
Hexdc	T	C	11: 121,216,987	V181A	probably damaging	Het
Ik	T	A	18: 36,744,787	D5E	probably benign	Het
Ilkap	A	G	1: 91,376,251	C163R		Het
Itpr3	C	T	17: 27,115,953	T2147I	probably damaging	Het
Kif1a	A	T	1: 93,022,451	V1418E	probably benign	Het
Kif26b	T	C	1: 178,916,250	C1304R	probably benign	Het
Lmna	CAGCACGGTGCGTGAGC	CAGC	3: 88,482,550		probably null	Het
Lvrn	A	T	18: 46,900,542	D940V	probably damaging	Het
Mill1	G	A	7: 18,263,102	R206H	probably benign	Het
Mrgpra1	A	T	7: 47,335,520	L137Q	probably damaging	Het
Npc2	C	A	12: 84,760,864	L73F	probably benign	Het
Olfr1042	T	C	2: 86,160,337	E11G	probably benign	Het
Olfr1052	T	C	2: 86,298,374	I186T	probably benign	Het
Olfr1447	A	T	19: 12,901,657	V41E	probably damaging	Het
Olfr556	A	T	7: 102,670,804	I295F	possibly damaging	Het
Olfr742	A	G	14: 50,515,212	T3A	probably benign	Het
Osbpl1a	T	C	18: 12,819,508	H533R	probably benign	Het
Pax7	G	A	4: 139,829,508	T147M	probably benign	Het
Pdik1l	A	T	4: 134,279,400	S143T	unknown	Het
Prkg1	T	G	19: 30,786,971	T255P	possibly damaging	Het
Prmt2	A	T	10: 76,225,379	I91N	probably damaging	Het
Ptprm	A	G	17: 66,809,489	Y932H	probably damaging	Het
Ptprz1	A	T	6: 22,959,695	I64F	probably damaging	Het
Qrich2	T	C	11: 116,447,120	K154R	probably damaging	Het
Rab8b	T	C	9: 66,919,542	D31G	probably benign	Het
Radil	A	G	5: 142,487,623	S768P	probably damaging	Het
Rbm5	A	T	9: 107,744,953	D607E	probably benign	Het
Reep6	T	A	10: 80,333,559	V131E	probably damaging	Het
Rrbp1	T	A	2: 143,990,179	I23F	probably damaging	Het
Rubcn	A	T	16: 32,843,111	V385D	probably benign	Het
Sall2	C	T	14: 52,314,667	G357D	possibly damaging	Het
Slc12a6	T	A	2: 112,344,536	L547H	probably damaging	Het
Slc16a6	T	C	11: 109,463,496	T100A	probably benign	Het
Sptbn2	T	C	19: 4,750,507	L2250P	probably damaging	Het
Stab1	C	T	14: 31,154,944	A808T	probably benign	Het
Stag1	A	G	9: 100,928,098	T785A	probably benign	Het
Stambpl1	T	G	19: 34,234,135	S199A	probably benign	Het
Supt20	C	T	3: 54,715,594	S496L	probably benign	Het
Tanc1	T	C	2: 59,795,852	F518L	probably damaging	Het
Tdpoz3	T	A	3: 93,826,849	V277D	probably benign	Het
Ttc30a2	T	C	2: 75,977,347	T274A	probably benign	Het
Unc45a	A	C	7: 80,325,655	Y934D	probably damaging	Het
Vmn1r192	G	A	13: 22,187,949	P34S	probably benign	Het
Wipf3	T	C	6: 54,489,019	S421P	possibly damaging	Het
Zfp296	A	G	7: 19,580,302	K361E	possibly damaging	Het
Zfp882	T	A	8: 71,914,071	N247K	probably benign	Het
Zfpm2	A	G	15: 41,102,314	T732A	possibly 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
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'- TGATGCCACCCACTAGACAG -3'
(R):5'- CCACACATCTTCCCTTGCAGAG -3'

Sequencing Primer
(F):5'- AGGACTTACGATGTTACCCCCTAG -3'
(R):5'- GCAGAGGCTTCATTCACATCC -3'

Posted On

2022-11-14