Mutagenetix > Incidental Mutation

Incidental Mutation 'R9236:Dock9'

700505

Institutional Source

Beutler Lab

Gene Symbol

Dock9

Ensembl Gene

ENSMUSG00000025558

Gene Name

dedicator of cytokinesis 9

Synonyms

D14Wsu89e, Zizimin1, B230309H04Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9236 (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 C at 121639558 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 467 (D467G)

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

possibly damaging
Transcript: ENSMUST00000040700
AA Change: D467G

PolyPhen 2 Score 0.945 (Sensitivity: 0.80; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000047881
Gene: ENSMUSG00000025558
AA Change: D467G

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: D469G

PolyPhen 2 Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000097872
Gene: ENSMUSG00000025558
AA Change: D469G

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: D467G

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000212376
AA Change: D481G

PolyPhen 2 Score 0.869 (Sensitivity: 0.83; Specificity: 0.93)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca3	A	G	17: 24,407,738	T1514A	probably benign	Het
Abcb1b	G	A	5: 8,824,893		probably null	Het
Adam12	A	C	7: 134,012,293	L109R	probably benign	Het
Adgre1	T	A	17: 57,402,782	Y146*	probably null	Het
Ap5m1	G	T	14: 49,073,607	V45L	probably benign	Het
Bpifa5	A	T	2: 154,164,230	I113F	probably damaging	Het
Cacna1h	A	T	17: 25,381,450	M1639K	probably damaging	Het
Celsr1	T	C	15: 86,030,850	E974G	probably damaging	Het
Cggbp1	C	T	16: 64,855,955	A128V	probably benign	Het
Col7a1	G	T	9: 108,960,616	R898L	unknown	Het
Cycs	C	T	6: 50,566,527		probably benign	Het
Cyp2c54	A	T	19: 40,072,494	Y68*	probably null	Het
Eif2s1	A	T	12: 78,874,569	I83L	probably benign	Het
Eppk1	T	A	15: 76,106,310	R2124*	probably null	Het
Fkbp15	G	C	4: 62,336,427	L279V	probably damaging	Het
Fndc1	A	G	17: 7,773,628	V412A	unknown	Het
Gfap	A	G	11: 102,895,501	I194T	probably damaging	Het
Gpatch2	C	A	1: 187,233,780	T350K	probably benign	Het
Hecw1	C	T	13: 14,316,058	G783D	possibly damaging	Het
Hipk1	A	T	3: 103,764,473	W437R	probably damaging	Het
Hps4	G	A	5: 112,378,039	S642N	possibly damaging	Het
Hr	C	T	14: 70,571,956	P1136S	probably damaging	Het
Il1rl2	T	A	1: 40,329,061	N130K	probably damaging	Het
Kif13b	A	G	14: 64,744,934	I532V	probably benign	Het
Klk15	C	T	7: 43,938,366	H73Y	possibly damaging	Het
Lrba	T	A	3: 86,353,759	I1474K	probably benign	Het
Luc7l3	T	C	11: 94,295,946	E371G	unknown	Het
Myo5b	T	A	18: 74,720,863	D1184E	probably benign	Het
N4bp2l2	A	G	5: 150,662,014	M167T	probably benign	Het
N4bp2l2	T	C	5: 150,662,269	H82R	probably benign	Het
Ndufaf1	T	C	2: 119,660,231	E118G	possibly damaging	Het
Nedd9	A	T	13: 41,338,677	V119E	possibly damaging	Het
Nlgn3	T	C	X: 101,308,784	V179A	probably damaging	Het
Ntmt1	T	A	2: 30,822,395	L150Q	probably damaging	Het
Olfr1097	C	T	2: 86,890,278	S299N	probably benign	Het
Olfr1451	G	T	19: 12,999,399	V138F	probably damaging	Het
Olfr836	A	G	9: 19,121,910	*315W	probably null	Het
Olfr889	A	T	9: 38,116,200	M140L	possibly damaging	Het
Osbpl8	A	G	10: 111,270,635	N301S	probably benign	Het
Pgm5	A	T	19: 24,861,639	S51T	probably benign	Het
Pitx2	A	G	3: 129,215,696	K88R	probably damaging	Het
Pnmal2	A	T	7: 16,946,039	D316V	unknown	Het
Pop1	C	A	15: 34,499,412	P41Q	probably damaging	Het
Rcor1	A	C	12: 111,103,646	K292N		Het
Rps6kc1	C	T	1: 190,800,003	D601N	probably damaging	Het
Sema7a	A	T	9: 57,955,125	I204F	probably damaging	Het
Slc29a4	T	C	5: 142,712,947	L121P	probably damaging	Het
Slc4a2	A	G	5: 24,439,310	T983A	probably benign	Het
Slc4a4	C	T	5: 89,046,299	R213*	probably null	Het
Tbc1d2	G	A	4: 46,609,029	T736I	probably benign	Het
Tmco1	C	T	1: 167,308,563		probably benign	Het
Trim28	G	A	7: 13,029,563	A544T	probably benign	Het
Trip12	A	C	1: 84,725,829	L1895R	probably damaging	Het
Ttc41	A	T	10: 86,776,730	Y1289F	probably damaging	Het
Vmn1r70	G	A	7: 10,634,089	C168Y	probably damaging	Het
Vtcn1	C	A	3: 100,888,217	R167S	probably benign	Het
Wdr66	T	C	5: 123,290,062	C980R	probably damaging	Het
Zfp369	G	A	13: 65,297,196	V718I	probably benign	Het
Zfp608	T	C	18: 54,899,282	T529A	probably benign	Het
Zfp936	A	G	7: 43,187,498	N46D	probably benign	Het
Zfp974	A	G	7: 27,910,917	V461A	possibly damaging	Het
Zgrf1	A	G	3: 127,584,663	N1024S	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
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
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'- TTGCACGCAGAACCATCTCC -3'
(R):5'- CTTTGAGCAGATATGGGCTGAG -3'

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

Posted On

2022-02-07