Mutagenetix > Incidental Mutations

Incidental Mutation 'R2566:Dock10'

254431

Institutional Source

Beutler Lab

Gene Symbol

Dock10

Ensembl Gene

ENSMUSG00000038608

Gene Name

dedicator of cytokinesis 10

Synonyms

Jr5, Zizimin3, A630054M16Rik, Jr4, 9330153B10Rik, ZIZ3

MMRRC Submission

040425-MU

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.344) question?

Stock #

R2566 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

80501073-80758527 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 80540253 bp

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 1348 (I1348F)

Ref Sequence

ENSEMBL: ENSMUSP00000077099 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000077946] [ENSMUST00000187774] [ENSMUST00000190595] [ENSMUST00000190983]

Predicted Effect

possibly damaging
Transcript: ENSMUST00000077946
AA Change: I1348F

PolyPhen 2 Score 0.881 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000077099
Gene: ENSMUSG00000038608
AA Change: I1348F

Domain	Start	End	E-Value	Type
low complexity region	25	42	N/A	INTRINSIC
Pfam:DUF3398	61	153	1.7e-36	PFAM
PH	182	292	8.5e-17	SMART
Blast:PH	350	458	7e-18	BLAST
Pfam:DOCK-C2	668	859	1e-50	PFAM
low complexity region	1269	1279	N/A	INTRINSIC
low complexity region	1284	1295	N/A	INTRINSIC
Pfam:DHR-2	1592	2143	1.3e-216	PFAM
low complexity region	2174	2187	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000187774
AA Change: I1336F

PolyPhen 2 Score 0.800 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000140085
Gene: ENSMUSG00000038608
AA Change: I1336F

Domain	Start	End	E-Value	Type
Pfam:DUF3398	46	141	9e-29	PFAM
PH	170	280	3.9e-19	SMART
Blast:PH	338	446	7e-18	BLAST
Pfam:DOCK-C2	655	848	1.5e-54	PFAM
low complexity region	1257	1267	N/A	INTRINSIC
low complexity region	1272	1283	N/A	INTRINSIC
low complexity region	1870	1890	N/A	INTRINSIC
Pfam:Ded_cyto	1954	2131	3.4e-65	PFAM
low complexity region	2162	2175	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000190595
AA Change: I1001F

PolyPhen 2 Score 0.638 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000139567
Gene: ENSMUSG00000038608
AA Change: I1001F

Domain	Start	End	E-Value	Type
Blast:PH	3	111	5e-18	BLAST
Pfam:DOCK-C2	320	513	1.2e-54	PFAM
low complexity region	922	932	N/A	INTRINSIC
low complexity region	937	948	N/A	INTRINSIC
low complexity region	1508	1522	N/A	INTRINSIC
Pfam:Ded_cyto	1588	1765	2.7e-65	PFAM
low complexity region	1783	1795	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000190983
AA Change: I1335F

PolyPhen 2 Score 0.800 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000140719
Gene: ENSMUSG00000038608
AA Change: I1335F

Domain	Start	End	E-Value	Type
Pfam:DUF3398	45	140	8.9e-29	PFAM
PH	169	279	3.9e-19	SMART
Blast:PH	337	445	7e-18	BLAST
Pfam:DOCK-C2	654	847	1.5e-54	PFAM
low complexity region	1256	1266	N/A	INTRINSIC
low complexity region	1271	1282	N/A	INTRINSIC
low complexity region	1869	1889	N/A	INTRINSIC
Pfam:Ded_cyto	1953	2130	3.4e-65	PFAM

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.2%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the dedicator of cytokinesis protein family. Members of this family are guanosine nucleotide exchange factors for Rho GTPases and defined by the presence of conserved DOCK-homology regions. The encoded protein belongs to the D (or Zizimin) subfamily of DOCK proteins, which also contain an N-terminal pleckstrin homology domain. Alternatively spliced transcript variants that encode different isoforms have been described. [provided by RefSeq, Mar 2014]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit a reduction of B cell numbers in secondary lymphoid organs. Follicular B cells show membrane CD23 overexpression. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2010315B03Rik	T	C	9: 124,293,071	K408E	probably damaging	Het
2010315B03Rik	T	A	9: 124,293,153	K380N	probably damaging	Het
9230104M06Rik	C	T	12: 113,000,739		probably benign	Het
Ahi1	T	A	10: 20,970,911	C413*	probably null	Het
Alms1	T	A	6: 85,622,482	M1430K	possibly damaging	Het
Ankrd52	G	T	10: 128,389,351	A894S	probably benign	Het
Arhgap33	C	A	7: 30,527,229	V494L	probably damaging	Het
Atic	G	T	1: 71,568,971	V275F	probably damaging	Het
Atoh1	T	A	6: 64,729,684	V121E	probably damaging	Het
Atp5h	T	A	11: 115,416,038		probably null	Het
Baiap2l2	A	T	15: 79,261,974		probably null	Het
Brca2	A	T	5: 150,541,762	T1664S	probably benign	Het
Cdh15	G	A	8: 122,862,024	R279Q	probably damaging	Het
Celf3	ACAGCAGCAGCAGCAGCAGCAGCA	ACAGCAGCAGCAGCAGCAGCA	3: 94,488,230		probably benign	Het
Cep350	A	T	1: 155,959,718		probably null	Het
Ces2g	T	C	8: 104,965,989		probably null	Het
Csmd3	CCTTTGCGCTT	CCTT	15: 47,741,236		probably null	Het
Cyp2d34	A	G	15: 82,616,167	F457S	probably damaging	Het
Disp3	T	A	4: 148,241,423	T1293S	probably damaging	Het
Dsp	A	T	13: 38,196,404	H1776L	probably damaging	Het
Efhd1	A	T	1: 87,309,755	Q228L	possibly damaging	Het
Entpd2	T	A	2: 25,399,283	I259N	probably benign	Het
Fam149b	A	T	14: 20,375,510	M138L	probably damaging	Het
Fastkd5	T	C	2: 130,616,365	K102E	probably benign	Het
Fzd7	C	A	1: 59,484,536	T526K	possibly damaging	Het
G6pd2	T	A	5: 61,808,987	I35N	probably damaging	Het
Gars	T	A	6: 55,065,563	M427K	probably damaging	Het
Gimap4	C	T	6: 48,690,865	R57C	probably damaging	Het
Gm11232	C	A	4: 71,757,785	W41L	probably benign	Het
Gm15737	T	A	6: 92,879,720	C43*	probably null	Het
Gm853	A	T	4: 130,209,888	L420Q	probably benign	Het
Gpr180	T	C	14: 118,139,773	V62A	probably benign	Het
H2-M11	C	T	17: 36,548,150	T194I	possibly damaging	Het
Jakmip3	A	T	7: 138,989,468	E27V	possibly damaging	Het
Kcnq3	T	C	15: 66,031,427	T145A	probably damaging	Het
Krt8	A	G	15: 101,998,024	M350T	probably benign	Het
Krtap4-9	T	A	11: 99,785,666		probably benign	Het
Lbr	G	T	1: 181,836,127	D109E	probably damaging	Het
Med23	A	G	10: 24,888,575	H42R	probably damaging	Het
Mgat5	A	T	1: 127,307,004	M77L	probably benign	Het
Mlf1	A	T	3: 67,384,586	N28I	possibly damaging	Het
Mroh3	A	C	1: 136,198,126	L343R	probably damaging	Het
Mrpl37	T	A	4: 107,064,493	I180F	possibly damaging	Het
Mrps27	T	A	13: 99,400,328	C116*	probably null	Het
Muc6	A	G	7: 141,640,384	S1354P	possibly damaging	Het
Myh7	A	T	14: 54,983,242	D1033E	probably damaging	Het
Myo16	A	T	8: 10,594,820	E1717D	probably benign	Het
Myo1g	T	A	11: 6,512,539		probably null	Het
Olfr610	A	G	7: 103,506,160	M262T	probably benign	Het
Olfr815	A	C	10: 129,902,095	L205R	probably damaging	Het
Pan2	T	C	10: 128,313,897	L576P	probably damaging	Het
Parp8	A	G	13: 116,895,687	S278P	possibly damaging	Het
Pdk2	A	G	11: 95,027,202		probably null	Het
Phf1	T	C	17: 26,937,088	S450P	probably damaging	Het
Pkd1l2	T	C	8: 117,019,494	Y1919C	probably damaging	Het
Postn	T	A	3: 54,376,953	S614T	probably damaging	Het
Psmg1	A	T	16: 95,982,195	Y213*	probably null	Het
Rab11b	T	A	17: 33,747,718	T203S	probably benign	Het
Rad54l2	T	A	9: 106,703,626	T899S	possibly damaging	Het
Ramp2	TTGCTGCTGCTGCTGCTGCTGCTG	TTGCTGCTGCTGCTGCTGCTG	11: 101,246,545		probably benign	Het
Rapgef6	A	G	11: 54,687,711	T1028A	possibly damaging	Het
Rbm6	A	G	9: 107,791,998	S58P	possibly damaging	Het
Rreb1	G	T	13: 37,929,792	A376S	possibly damaging	Het
Rsbn1l	T	A	5: 20,919,769	N345I	probably benign	Het
Sf3b2	A	T	19: 5,275,090	S785T	possibly damaging	Het
Sh2b1	C	T	7: 126,468,926	D519N	probably damaging	Het
Slitrk6	T	C	14: 110,750,272	T668A	probably benign	Het
Stkld1	T	A	2: 26,950,638	I444N	probably damaging	Het
Sucla2	A	T	14: 73,552,804		probably benign	Het
Tmem67	T	A	4: 12,079,918	L190F	probably damaging	Het
Tns2	C	T	15: 102,108,934	R281C	probably damaging	Het
Trem2	G	A	17: 48,351,835	W191*	probably null	Het
Ube2d4	A	T	15: 58,846,679		noncoding transcript	Het
Uimc1	G	T	13: 55,075,804	D218E	probably damaging	Het
Wdr62	A	T	7: 30,273,999	V95E	probably damaging	Het
Zfhx4	T	C	3: 5,245,143	V862A	probably damaging	Het
Zfp462	T	A	4: 55,008,522	S163T	probably benign	Het
Zfp704	T	C	3: 9,609,493	D76G	unknown	Het

Other mutations in Dock10

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00569:Dock10	APN	1	80585012	missense	probably damaging	1.00
IGL00783:Dock10	APN	1	80572449	splice site	probably benign
IGL00784:Dock10	APN	1	80572449	splice site	probably benign
IGL00858:Dock10	APN	1	80568003	missense	possibly damaging	0.48
IGL01298:Dock10	APN	1	80531245	missense	probably damaging	1.00
IGL01351:Dock10	APN	1	80593159	missense	probably damaging	1.00
IGL01356:Dock10	APN	1	80523742	missense	probably damaging	1.00
IGL01584:Dock10	APN	1	80533850	missense	probably damaging	0.99
IGL01619:Dock10	APN	1	80634298	splice site	probably benign
IGL01678:Dock10	APN	1	80543352	missense	probably damaging	1.00
IGL01759:Dock10	APN	1	80526273	missense	probably damaging	1.00
IGL02238:Dock10	APN	1	80533793	missense	probably damaging	0.99
IGL02352:Dock10	APN	1	80505661	missense	probably damaging	1.00
IGL02359:Dock10	APN	1	80505661	missense	probably damaging	1.00
IGL02377:Dock10	APN	1	80584994	critical splice donor site	probably null
IGL02433:Dock10	APN	1	80530188	missense	probably damaging	1.00
IGL02471:Dock10	APN	1	80515622	missense	probably damaging	0.99
IGL02645:Dock10	APN	1	80574123	missense	probably damaging	1.00
IGL02646:Dock10	APN	1	80574123	missense	probably damaging	1.00
IGL02648:Dock10	APN	1	80574123	missense	probably damaging	1.00
IGL02649:Dock10	APN	1	80574123	missense	probably damaging	1.00
IGL02650:Dock10	APN	1	80574123	missense	probably damaging	1.00
IGL02652:Dock10	APN	1	80592844	unclassified	probably null
IGL02718:Dock10	APN	1	80523818	missense	probably benign	0.00
IGL02998:Dock10	APN	1	80573542	missense	probably damaging	1.00
IGL03057:Dock10	APN	1	80567371	missense	probably damaging	1.00
IGL03066:Dock10	APN	1	80585041	missense	probably benign	0.00
IGL03106:Dock10	APN	1	80568834	missense	probably damaging	0.98
IGL03148:Dock10	APN	1	80540358	missense	probably benign	0.01
IGL03271:Dock10	APN	1	80505409	missense	probably damaging	1.00
IGL03352:Dock10	APN	1	80606296	splice site	probably benign
LCD18:Dock10	UTSW	1	80716623	intron	probably benign
PIT4366001:Dock10	UTSW	1	80595721	missense	probably benign	0.30
PIT4581001:Dock10	UTSW	1	80505446	missense	probably damaging	1.00
R0019:Dock10	UTSW	1	80605925	missense	probably damaging	1.00
R0081:Dock10	UTSW	1	80606578	missense	probably damaging	0.99
R0095:Dock10	UTSW	1	80524071	missense	probably benign	0.00
R0241:Dock10	UTSW	1	80578623	missense	probably benign
R0241:Dock10	UTSW	1	80578623	missense	probably benign
R0255:Dock10	UTSW	1	80605876	missense	probably damaging	1.00
R0267:Dock10	UTSW	1	80512454	missense	probably damaging	1.00
R0299:Dock10	UTSW	1	80536929	missense	probably damaging	0.99
R0365:Dock10	UTSW	1	80595683	missense	probably damaging	1.00
R0387:Dock10	UTSW	1	80540276	missense	probably damaging	1.00
R0403:Dock10	UTSW	1	80524070	missense	possibly damaging	0.94
R0408:Dock10	UTSW	1	80540476	missense	probably benign	0.03
R0414:Dock10	UTSW	1	80535933	missense	possibly damaging	0.93
R0591:Dock10	UTSW	1	80541219	splice site	probably benign
R0698:Dock10	UTSW	1	80530178	missense	probably damaging	1.00
R0711:Dock10	UTSW	1	80523975	missense	probably damaging	1.00
R0925:Dock10	UTSW	1	80536940	missense	probably benign	0.20
R1162:Dock10	UTSW	1	80568842	missense	possibly damaging	0.58
R1370:Dock10	UTSW	1	80540343	missense	probably damaging	1.00
R1440:Dock10	UTSW	1	80549136	missense	probably benign	0.03
R1469:Dock10	UTSW	1	80512558	missense	probably benign	0.05
R1469:Dock10	UTSW	1	80512558	missense	probably benign	0.05
R1525:Dock10	UTSW	1	80606164	critical splice donor site	probably null
R1544:Dock10	UTSW	1	80592635	missense	probably benign	0.00
R1601:Dock10	UTSW	1	80549802	missense	probably benign	0.00
R1757:Dock10	UTSW	1	80533869	missense	probably damaging	1.00
R1765:Dock10	UTSW	1	80605823	missense	probably damaging	1.00
R1783:Dock10	UTSW	1	80574180	missense	probably benign	0.17
R1823:Dock10	UTSW	1	80543097	splice site	probably null
R1827:Dock10	UTSW	1	80530292	missense	probably benign	0.07
R1844:Dock10	UTSW	1	80543201	missense	probably damaging	0.99
R1856:Dock10	UTSW	1	80606568	missense	possibly damaging	0.46
R1974:Dock10	UTSW	1	80510426	missense	possibly damaging	0.50
R2006:Dock10	UTSW	1	80549789	missense	possibly damaging	0.95
R2112:Dock10	UTSW	1	80505642	missense	probably damaging	1.00
R2112:Dock10	UTSW	1	80505643	missense	probably damaging	0.99
R2113:Dock10	UTSW	1	80606563	missense	probably damaging	1.00
R2439:Dock10	UTSW	1	80532432	missense	probably damaging	1.00
R3086:Dock10	UTSW	1	80532357	missense	possibly damaging	0.91
R3766:Dock10	UTSW	1	80536926	missense	probably damaging	0.99
R3768:Dock10	UTSW	1	80532368	missense	probably damaging	1.00
R4009:Dock10	UTSW	1	80532431	missense	probably damaging	1.00
R4016:Dock10	UTSW	1	80606569	missense	probably damaging	1.00
R4179:Dock10	UTSW	1	80510417	missense	probably benign	0.00
R4243:Dock10	UTSW	1	80566755	missense	probably benign	0.00
R4244:Dock10	UTSW	1	80566755	missense	probably benign	0.00
R4245:Dock10	UTSW	1	80566755	missense	probably benign	0.00
R4674:Dock10	UTSW	1	80606620	missense	possibly damaging	0.79
R4696:Dock10	UTSW	1	80515613	missense	possibly damaging	0.95
R4789:Dock10	UTSW	1	80541281	missense	probably damaging	1.00
R4851:Dock10	UTSW	1	80549157	missense	probably benign	0.33
R4911:Dock10	UTSW	1	80606236	missense	probably damaging	1.00
R4976:Dock10	UTSW	1	80567994	critical splice donor site	probably null
R5086:Dock10	UTSW	1	80551472	missense	possibly damaging	0.89
R5119:Dock10	UTSW	1	80567994	critical splice donor site	probably null
R5301:Dock10	UTSW	1	80648256	missense	probably benign	0.41
R5404:Dock10	UTSW	1	80503913	intron	probably benign
R5457:Dock10	UTSW	1	80524064	missense	probably damaging	1.00
R5790:Dock10	UTSW	1	80505170	missense	probably benign	0.00
R5845:Dock10	UTSW	1	80505742	intron	probably benign
R5871:Dock10	UTSW	1	80541340	critical splice acceptor site	probably null
R5873:Dock10	UTSW	1	80574138	missense	probably damaging	1.00
R5881:Dock10	UTSW	1	80560923	missense	probably benign	0.19
R5895:Dock10	UTSW	1	80536959	missense	probably benign
R5935:Dock10	UTSW	1	80505587	intron	probably benign
R5965:Dock10	UTSW	1	80568744	splice site	probably null
R5966:Dock10	UTSW	1	80568508	missense	possibly damaging	0.84
R6008:Dock10	UTSW	1	80606173	missense	probably damaging	0.98
R6029:Dock10	UTSW	1	80536946	missense	possibly damaging	0.68
R6083:Dock10	UTSW	1	80532431	missense	probably damaging	1.00
R6145:Dock10	UTSW	1	80575904	nonsense	probably null
R6257:Dock10	UTSW	1	80503696	intron	probably benign
R6274:Dock10	UTSW	1	80538823	missense	probably damaging	1.00
R6324:Dock10	UTSW	1	80505176	missense	probably benign	0.03
R6346:Dock10	UTSW	1	80575856	splice site	probably null
R6476:Dock10	UTSW	1	80541242	nonsense	probably null
R6516:Dock10	UTSW	1	80540461	missense	probably damaging	1.00
R6526:Dock10	UTSW	1	80586351	missense	probably damaging	0.97
R6534:Dock10	UTSW	1	80503671	missense	probably benign	0.01
R6620:Dock10	UTSW	1	80592638	missense	probably benign	0.01
R6640:Dock10	UTSW	1	80533838	nonsense	probably null
R6669:Dock10	UTSW	1	80592855	missense	probably damaging	1.00
R6672:Dock10	UTSW	1	80512531	missense	probably benign	0.00
R6679:Dock10	UTSW	1	80566797	missense	probably benign	0.11
R6682:Dock10	UTSW	1	80512621	missense	probably damaging	1.00
R6712:Dock10	UTSW	1	80536866	missense	probably benign	0.00
R6726:Dock10	UTSW	1	80512430	missense	probably damaging	1.00
R6788:Dock10	UTSW	1	80531245	missense	probably damaging	1.00
R6805:Dock10	UTSW	1	80586690	missense	probably benign
R6815:Dock10	UTSW	1	80538859	missense	possibly damaging	0.94
R6818:Dock10	UTSW	1	80615365	missense	possibly damaging	0.95
R6867:Dock10	UTSW	1	80531259	missense	probably damaging	1.00
R6964:Dock10	UTSW	1	80503648	intron	probably benign
R7026:Dock10	UTSW	1	80501787	missense	probably benign	0.40
R7084:Dock10	UTSW	1	80503856	missense
R7087:Dock10	UTSW	1	80592826	missense	probably benign
R7158:Dock10	UTSW	1	80586872	critical splice acceptor site	probably null
R7191:Dock10	UTSW	1	80540331	missense	possibly damaging	0.93
R7214:Dock10	UTSW	1	80568529	missense	probably benign	0.01
R7255:Dock10	UTSW	1	80543099	critical splice donor site	probably null
R7320:Dock10	UTSW	1	80549704	critical splice donor site	probably null
R7359:Dock10	UTSW	1	80709348	missense	probably benign	0.01
R7423:Dock10	UTSW	1	80523780	missense	possibly damaging	0.67
R7464:Dock10	UTSW	1	80540315	missense	probably damaging	0.99
R7483:Dock10	UTSW	1	80515566	missense	probably benign	0.01
R7487:Dock10	UTSW	1	80585048	missense	probably benign	0.00
R7789:Dock10	UTSW	1	80559213	missense	possibly damaging	0.82
RF021:Dock10	UTSW	1	80564573	critical splice acceptor site	probably null
X0025:Dock10	UTSW	1	80536920	missense	probably damaging	0.98
X0065:Dock10	UTSW	1	80541260	missense	probably damaging	1.00
Z1088:Dock10	UTSW	1	80532347	missense	probably damaging	1.00
Z1176:Dock10	UTSW	1	80560954	missense	not run
Z1177:Dock10	UTSW	1	80559200	missense	not run

Predicted Primers

PCR Primer
(F):5'- TTGGATCAACCCTAAACTTACTCC -3'
(R):5'- TGTGAAAAGGTGCAGCTACC -3'

Sequencing Primer
(F):5'- TACTCCAAGATGCTGAAGAAGTCTG -3'
(R):5'- TGAAAAGGTGCAGCTACCCTCTG -3'

Posted On

2014-12-04