Mutagenetix > Incidental Mutation

Incidental Mutation 'R7539:Dock9'

583808

Institutional Source

Beutler Lab

Gene Symbol

Dock9

Ensembl Gene

ENSMUSG00000025558

Gene Name

dedicator of cytokinesis 9

Synonyms

D14Wsu89e, Zizimin1, B230309H04Rik

MMRRC Submission

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7539 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

121542046-121797837 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 121581436 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 1545 (S1545P)

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: S1544P

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

SMART Domains

Protein: ENSMUSP00000047881
Gene: ENSMUSG00000025558
AA Change: S1544P

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: S1515P

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000097872
Gene: ENSMUSG00000025558
AA Change: S1515P

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: S1545P

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

Predicted Effect

probably damaging
Transcript: ENSMUST00000212376
AA Change: S1535P

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

Predicted Effect

probably benign
Transcript: ENSMUST00000212416

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

100% (63/63)

Allele List at MGI

Other mutations in this stock

Total: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2410089E03Rik	A	G	15: 8,201,244	I1002V	probably benign	Het
4930516K23Rik	T	C	7: 104,059,263	E113G	probably damaging	Het
Abcf3	T	C	16: 20,552,632		probably null	Het
Agbl1	T	C	7: 76,425,929		probably null	Het
Ap5m1	C	A	14: 49,073,557	P28Q	probably damaging	Het
Bet1l	T	C	7: 140,854,544	D83G	probably benign	Het
Birc6	T	C	17: 74,649,696	S3571P	probably damaging	Het
Bod1l	A	T	5: 41,817,860	M2037K	possibly damaging	Het
Ccdc80	A	T	16: 45,095,082	E67V	probably benign	Het
Cep112	A	G	11: 108,855,828	M133V	probably benign	Het
Ckmt2	C	A	13: 91,859,944	D224Y	probably damaging	Het
Crb1	T	G	1: 139,248,229	K672T	probably damaging	Het
Dnhd1	T	C	7: 105,720,912	S4515P	probably damaging	Het
Dopey1	T	G	9: 86,521,573	S145A	probably benign	Het
Eps8l1	T	C	7: 4,470,037	S92P	probably damaging	Het
Faap100	T	C	11: 120,377,638	D103G	possibly damaging	Het
Fech	T	A	18: 64,483,494		probably null	Het
Folh1	T	A	7: 86,725,909	E623V	probably benign	Het
Galnt5	T	C	2: 58,035,230	L841P	probably damaging	Het
Ggh	C	G	4: 20,049,833	S88C	probably damaging	Het
Gm10577	C	T	4: 101,020,696	V1I	unknown	Het
Grip1	T	A	10: 120,054,871	H938Q	probably benign	Het
Gucy2g	G	A	19: 55,203,154	A955V	probably damaging	Het
Hpd	G	C	5: 123,178,192	Y165*	probably null	Het
Iqsec1	C	A	6: 90,662,891	R955L	probably benign	Het
Masp1	A	T	16: 23,470,378	H557Q	possibly damaging	Het
Muc4	C	T	16: 32,756,396	T20M		Het
Myo16	T	C	8: 10,361,095		probably null	Het
Nfkb2	T	C	19: 46,308,223	F273L	possibly damaging	Het
Olfr1299	T	C	2: 111,664,433	V69A	possibly damaging	Het
Olfr1489	C	T	19: 13,633,569	Q153*	probably null	Het
Olfr323	A	T	11: 58,625,956	I29N	probably damaging	Het
Olfr355	T	C	2: 36,927,209	R302G	probably benign	Het
Olfr444	T	C	6: 42,956,103	C202R	possibly damaging	Het
Olfr594	T	C	7: 103,220,066	V116A	possibly damaging	Het
Olfr598	A	G	7: 103,328,494	S3G	probably benign	Het
Olfr791	A	T	10: 129,527,105	K293*	probably null	Het
Olfr816	T	C	10: 129,912,063	T72A	probably damaging	Het
Olfr868	A	T	9: 20,101,619	M287L	probably benign	Het
Parp4	T	A	14: 56,635,755	I1152N	probably damaging	Het
Peg3	T	C	7: 6,708,168	T1352A	probably benign	Het
Pik3c2a	T	C	7: 116,340,096	N1669S	probably damaging	Het
Pinx1	A	T	14: 63,919,206	Q194L	probably benign	Het
Podxl2	A	C	6: 88,849,329	S268A	probably benign	Het
Polr2c	C	A	8: 94,870,779	H363N	unknown	Het
Prlr	C	T	15: 10,329,023	T528I	probably benign	Het
Rab37	A	C	11: 115,160,661	Q198P	probably benign	Het
Rrm2b	T	A	15: 37,937,351		probably null	Het
Serpina3b	T	C	12: 104,130,711	S84P	possibly damaging	Het
Slc9a3r2	G	T	17: 24,641,899	A223D	probably damaging	Het
Stat4	A	T	1: 52,071,709		probably null	Het
Them6	T	C	15: 74,723,500	I185T	probably damaging	Het
Tmco4	T	A	4: 139,021,699	M316K	probably benign	Het
Tmtc4	G	T	14: 122,978,289		probably null	Het
Tnni3k	A	T	3: 154,962,031	N248K	probably benign	Het
Trim43a	T	A	9: 88,583,043	L141Q	probably benign	Het
Utp20	C	T	10: 88,791,745	V953M	probably damaging	Het
Vmn2r118	T	A	17: 55,592,853	T684S	probably damaging	Het
Wasl	A	T	6: 24,619,198	I441N	unknown	Het
Wfikkn2	T	C	11: 94,242,359	D64G	probably damaging	Het
Zfp128	C	A	7: 12,890,552	Y282*	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
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
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'- CGCCTTTGTAAATGCATTAGGG -3'

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

Posted On

2019-10-17