Mutagenetix > Incidental Mutation

Incidental Mutation 'R6868:Dock9'

536043

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 #

R6868 (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 T at 121586264 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Glutamic Acid at position 1412 (A1412E)

Ref Sequence

ENSEMBL: ENSMUSP00000148328 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000040700
AA Change: A1421E

PolyPhen 2 Score 0.173 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000047881
Gene: ENSMUSG00000025558
AA Change: A1421E

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: A1392E

PolyPhen 2 Score 0.091 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000097872
Gene: ENSMUSG00000025558
AA Change: A1392E

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: A1422E

PolyPhen 2 Score 0.150 (Sensitivity: 0.92; Specificity: 0.87)

Predicted Effect

probably benign
Transcript: ENSMUST00000212376
AA Change: A1412E

PolyPhen 2 Score 0.365 (Sensitivity: 0.90; Specificity: 0.89)

Predicted Effect

probably benign
Transcript: ENSMUST00000212416

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 98.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A630010A05Rik	A	T	16: 14,618,695	N204I	probably damaging	Het
Aasdh	C	T	5: 76,891,680	V261M	probably damaging	Het
Adgrg7	A	G	16: 56,773,476	F126L	probably benign	Het
Agxt2	T	C	15: 10,373,769	L87P	probably damaging	Het
Alcam	G	A	16: 52,268,385	S554F	probably damaging	Het
Ambra1	T	C	2: 91,917,533	S1205P	possibly damaging	Het
Bst2	A	C	8: 71,534,760	V150G	unknown	Het
C3	T	C	17: 57,204,029	Y1659C	possibly damaging	Het
Cacna1s	G	A	1: 136,092,694	R823Q	probably benign	Het
Cdk4	T	C	10: 127,065,001	V174A	probably benign	Het
Ces2h	T	A	8: 105,018,423	N396K	probably benign	Het
Chd7	T	C	4: 8,811,501		probably null	Het
Cnih4	A	G	1: 181,166,197	I76V	probably null	Het
Csmd2	G	A	4: 128,442,840	V1404I	probably benign	Het
Ctrb1	T	C	8: 111,689,403	D53G	probably benign	Het
Cul9	C	A	17: 46,522,183	R1323L	possibly damaging	Het
Dchs1	A	G	7: 105,763,503	V1230A	possibly damaging	Het
Dgat2	T	C	7: 99,158,306	D219G	probably benign	Het
Dgkh	T	C	14: 78,624,853	T225A	probably damaging	Het
Dscam	C	T	16: 96,829,940	V292M	probably damaging	Het
Fam183b	C	T	11: 58,792,906	D113N	probably damaging	Het
Fras1	T	A	5: 96,682,378	V1509E	probably benign	Het
Fryl	T	C	5: 73,068,803	Q1839R	probably damaging	Het
Gcat	A	G	15: 79,035,366	D177G	probably damaging	Het
Gss	T	C	2: 155,567,812	T235A	possibly damaging	Het
Ints10	T	A	8: 68,797,798	M114K	probably damaging	Het
Ints5	T	G	19: 8,897,386	L903R	probably damaging	Het
Lipo2	G	T	19: 33,748,462	P130Q	possibly damaging	Het
Megf11	G	A	9: 64,680,309	C494Y	probably damaging	Het
Milr1	T	C	11: 106,763,921	Y162H	probably damaging	Het
Mrc2	T	A	11: 105,328,418	I278N	probably damaging	Het
Mst1r	T	A	9: 107,915,933		probably null	Het
Myh15	G	A	16: 49,069,403	C119Y	probably damaging	Het
Nap1l1	G	A	10: 111,494,808	G358D	probably damaging	Het
Nav3	T	C	10: 109,693,166	I2178V	possibly damaging	Het
Nkx2-5	T	C	17: 26,841,294	E21G	probably damaging	Het
Nos2	C	T	11: 78,957,506	R967C	probably benign	Het
Olfr811	T	C	10: 129,802,168	D119G	probably damaging	Het
Parp10	T	C	15: 76,243,106	R44G	probably damaging	Het
Pced1b	A	G	15: 97,384,341	H87R	probably damaging	Het
Ppfia3	T	A	7: 45,353,612	L524F	probably damaging	Het
Ppp1r12b	T	C	1: 134,886,438	T376A	probably benign	Het
Ppp4r4	T	C	12: 103,590,852	L449P	probably damaging	Het
Prkd1	T	C	12: 50,425,537	R198G	probably damaging	Het
Pth2r	C	A	1: 65,388,479	A437E	probably benign	Het
Ptprh	A	T	7: 4,601,865	I60N	probably benign	Het
Pxmp2	C	T	5: 110,285,980	R9Q	probably damaging	Het
Scarb2	T	C	5: 92,485,309	K55E	probably benign	Het
Slc18b1	T	C	10: 23,804,234	V109A	possibly damaging	Het
Slx4ip	T	A	2: 137,000,210	D18E	probably damaging	Het
Stk40	A	G	4: 126,123,814	R45G	probably damaging	Het
Tbxas1	A	T	6: 39,084,306	Q513L	probably damaging	Het
Tcf4	A	T	18: 69,657,650		probably null	Het
Tmc6	T	A	11: 117,774,317	I377F	probably benign	Het
Tmem131l	T	C	3: 83,961,631	I146V	probably damaging	Het
Trac	T	A	14: 54,220,592		probably benign	Het
Trpm7	T	C	2: 126,837,414	D409G	probably damaging	Het
Usp39	A	T	6: 72,337,751	V224E	possibly damaging	Het
Vmn1r184	A	C	7: 26,267,302	M158L	probably benign	Het
Vmn2r120	T	A	17: 57,545,218	I33L	probably benign	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
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'- CTTTCTTACACTCACGACGGG -3'
(R):5'- AAAGTTGACTGTTACTGCCGC -3'

Sequencing Primer
(F):5'- TACACTCACGACGGGAATGCTG -3'
(R):5'- GTTACTGCCGCACCCCAC -3'

Posted On

2018-10-18