Mutagenetix > Incidental Mutation

Incidental Mutation 'R4258:Dock9'

321919

Institutional Source

Beutler Lab

Gene Symbol

Dock9

Ensembl Gene

ENSMUSG00000025558

Gene Name

dedicator of cytokinesis 9

Synonyms

D14Wsu89e, Zizimin1, B230309H04Rik

MMRRC Submission

041071-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4258 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

121542046-121797837 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 121581442 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 1533 (I1533V)

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: I1542V

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000047881
Gene: ENSMUSG00000025558
AA Change: I1542V

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: I1513V

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000097872
Gene: ENSMUSG00000025558
AA Change: I1513V

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

noncoding transcript
Transcript: ENSMUST00000211803

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000211907

Predicted Effect

probably benign
Transcript: ENSMUST00000212181
AA Change: I1543V

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

Predicted Effect

probably benign
Transcript: ENSMUST00000212283
AA Change: I1345V

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000212371

Predicted Effect

probably benign
Transcript: ENSMUST00000212376
AA Change: I1533V

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

Predicted Effect

probably benign
Transcript: ENSMUST00000212416

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000212719

Meta Mutation Damage Score

0.0642

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.8%

Validation Efficiency

95% (60/63)

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700080E11Rik	T	C	9: 105,143,568	I165V	probably damaging	Het
4932415M13Rik	T	A	17: 53,724,413		noncoding transcript	Het
Ank3	T	C	10: 70,004,762	I984T	probably benign	Het
Arnt2	T	C	7: 84,310,955	T204A	probably damaging	Het
Arsi	T	C	18: 60,917,316	W424R	probably damaging	Het
Aspg	A	T	12: 112,121,253	N346I	probably benign	Het
Brdt	A	G	5: 107,359,909	S668G	probably damaging	Het
Ccdc178	C	T	18: 22,017,335		probably null	Het
Cfap58	A	T	19: 47,949,484		probably null	Het
Chaf1a	C	A	17: 56,056,474	H319Q	unknown	Het
Colec12	T	C	18: 9,720,950	S13P	probably damaging	Het
Cpne9	C	T	6: 113,283,023		probably benign	Het
Cyp2c65	A	C	19: 39,093,428	D466A	probably benign	Het
Cyp3a25	T	C	5: 145,991,438	K266E	probably damaging	Het
Dennd1b	G	T	1: 139,062,940	R214L	probably damaging	Het
Dynlt1a	C	T	17: 6,310,909	M102I	probably benign	Het
Edil3	G	T	13: 89,177,153	L220F	probably damaging	Het
Eml5	A	G	12: 98,865,434	Y383H	probably benign	Het
Epc1	T	A	18: 6,450,130	T393S	probably benign	Het
Fbxo8	A	T	8: 56,588,041	D164V	probably benign	Het
Gbp4	T	A	5: 105,136,975	N16I	probably damaging	Het
Gdf6	G	A	4: 9,844,877	V134I	probably damaging	Het
Gm21876	C	T	X: 21,174,928	S45N	probably damaging	Het
Gm5475	A	G	15: 100,424,236		probably benign	Het
Gm6430	T	G	1: 97,024,836		noncoding transcript	Het
Ighv9-4	A	T	12: 114,300,145	V56E	probably damaging	Het
Il3ra	A	T	14: 14,347,961	N36Y	probably damaging	Het
Kif7	G	T	7: 79,710,513	C325*	probably null	Het
Lipo2	A	T	19: 33,730,928	F229I	possibly damaging	Het
Lrba	A	G	3: 86,445,349	K1935E	probably damaging	Het
Mki67	A	T	7: 135,695,288	D2672E	possibly damaging	Het
Mtf1	A	G	4: 124,838,783	T545A	probably benign	Het
Mup6	A	T	4: 60,004,812		probably null	Het
Myo9b	T	C	8: 71,355,765	V1672A	probably damaging	Het
Olfr1164	T	A	2: 88,093,018	N306I	probably damaging	Het
Olfr122	C	A	17: 37,772,058	P135Q	probably damaging	Het
Olfr1280	A	T	2: 111,315,638	H53L	probably benign	Het
Olfr16	C	T	1: 172,957,638	T281I	possibly damaging	Het
Pcdhgb2	A	T	18: 37,692,049	I698F	probably damaging	Het
Pkn3	C	T	2: 30,088,560	H665Y	probably damaging	Het
Ppil6	T	A	10: 41,507,535	L99*	probably null	Het
Psg22	T	A	7: 18,724,629	V376E	probably damaging	Het
Pum1	G	A	4: 130,730,280	R201H	probably damaging	Het
Rasa2	A	T	9: 96,557,380		probably benign	Het
Schip1	T	A	3: 68,618,630	M379K	possibly damaging	Het
Scn9a	A	T	2: 66,565,054		probably benign	Het
Sh3tc1	C	T	5: 35,706,978	A622T	probably benign	Het
Smarcd2	A	T	11: 106,265,250	I292N	probably damaging	Het
Stab1	G	A	14: 31,154,672	R862C	possibly damaging	Het
Tdrd5	T	A	1: 156,259,742	H870L	probably benign	Het
Tnfaip8	A	G	18: 50,090,376	R60G	possibly damaging	Het
Traf3ip3	C	T	1: 193,197,946	R25Q	probably damaging	Het
Unc5b	T	C	10: 60,765,371	Y892C	probably damaging	Het
Vmn2r2	T	G	3: 64,134,697	D199A	probably damaging	Het
Washc2	C	A	6: 116,208,241	P12Q	probably damaging	Het
Zfp286	T	C	11: 62,781,070	I121V	probably benign	Het
Zfp606	T	A	7: 12,494,340		probably null	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
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
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'- AAGGACTCATGACGGTACCC -3'
(R):5'- TCGCCTTTGTAAATGCATTAGGG -3'

Sequencing Primer
(F):5'- GGACTCATGACGGTACCCACTTTC -3'
(R):5'- GCCTTTGTAAATGCATTAGGGAAAAC -3'

Posted On

2015-06-20