Mutagenetix > Incidental Mutations

Incidental Mutation 'R2439:Dock10'

249718

Institutional Source

Beutler Lab

Gene Symbol

Dock10

Ensembl Gene

ENSMUSG00000038608

Gene Name

dedicator of cytokinesis 10

Synonyms

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

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.348) question?

Stock #

R2439 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

80501073-80758527 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 80532432 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Histidine at position 1560 (N1560H)

Ref Sequence

ENSEMBL: ENSMUSP00000140719 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000077946
AA Change: N1573H

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000077099
Gene: ENSMUSG00000038608
AA Change: N1573H

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

probably damaging
Transcript: ENSMUST00000187774
AA Change: N1561H

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000140085
Gene: ENSMUSG00000038608
AA Change: N1561H

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

probably benign
Transcript: ENSMUST00000189486

Predicted Effect

probably damaging
Transcript: ENSMUST00000190595
AA Change: N1226H

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000139567
Gene: ENSMUSG00000038608
AA Change: N1226H

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

probably damaging
Transcript: ENSMUST00000190983
AA Change: N1560H

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000140719
Gene: ENSMUSG00000038608
AA Change: N1560H

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: 99.1%
3x: 98.5%
10x: 96.9%
20x: 93.8%

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: 25 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2210407C18Rik	A	G	11: 58,610,777	C127R	probably damaging	Het
Atp11b	C	A	3: 35,814,084	T635K	possibly damaging	Het
B4galt3	C	A	1: 171,274,043	H196N	probably damaging	Het
Btla	G	T	16: 45,239,140	C69F	probably damaging	Het
Cdh10	T	G	15: 19,013,398	L695V	probably damaging	Het
Cfap44	C	T	16: 44,481,246		probably benign	Het
Ephb6	C	A	6: 41,618,735	H809Q	probably benign	Het
Eprs	G	A	1: 185,379,742		probably null	Het
Gdf7	A	G	12: 8,298,050	S416P	probably damaging	Het
Ints8	T	C	4: 11,225,725	M611V	probably benign	Het
Micalcl	A	G	7: 112,394,795	E504G	probably damaging	Het
Mrps30	G	A	13: 118,385,272	P231S	probably damaging	Het
Nr1h3	T	C	2: 91,190,220	D256G	probably benign	Het
Pramel5	T	C	4: 144,273,740	M89V	probably benign	Het
Psg18	T	C	7: 18,346,119	T386A	probably benign	Het
Ptprc	A	G	1: 138,066,152	V1180A	possibly damaging	Het
Rassf8	T	C	6: 145,815,334	S129P	probably damaging	Het
Rbm6	A	G	9: 107,779,597	Y994H	probably damaging	Het
Setx	GTGGCT	GT	2: 29,154,061	1814	probably null	Het
Slc2a4	A	G	11: 69,945,625	F222S	possibly damaging	Het
Smarca2	T	C	19: 26,691,454		probably null	Het
Tmtc4	T	G	14: 122,971,903	N110T	probably damaging	Het
Tsc22d1	TCAGCAGCAGCAGCAGCAGCAGCAGCA	TCAGCAGCAGCAGCAGCAGCAGCA	14: 76,417,267		probably benign	Het
Umad1	T	A	6: 8,427,078	D110E	probably damaging	Het
Ylpm1	A	G	12: 85,014,117		probably benign	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	splice site	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
R2566:Dock10	UTSW	1	80540253	missense	possibly damaging	0.88
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
R7943:Dock10	UTSW	1	80648289	missense	probably damaging	0.98
R7962:Dock10	UTSW	1	80586368	missense	possibly damaging	0.88
R8079:Dock10	UTSW	1	80578704	missense	probably benign	0.00
R8086:Dock10	UTSW	1	80503990	missense	probably benign	0.17
R8184:Dock10	UTSW	1	80552752	missense	probably damaging	1.00
R8220:Dock10	UTSW	1	80528649	missense	probably null	1.00
R8225:Dock10	UTSW	1	80503730	nonsense	probably null
R8267:Dock10	UTSW	1	80540328	missense	probably benign	0.00
R8276:Dock10	UTSW	1	80528281	missense	probably benign
R8294:Dock10	UTSW	1	80510362	missense	possibly damaging	0.88
R8298:Dock10	UTSW	1	80536937	missense	probably benign	0.00
R8326:Dock10	UTSW	1	80606175	missense	possibly damaging	0.77
R8724:Dock10	UTSW	1	80592627	missense	probably benign	0.00
R8828:Dock10	UTSW	1	80543417	missense	probably damaging	1.00
R8846:Dock10	UTSW	1	80568069	missense	possibly damaging	0.93
R8919:Dock10	UTSW	1	80505430	missense	probably benign	0.00
R8950:Dock10	UTSW	1	80541299	missense	probably benign
R8993:Dock10	UTSW	1	80574171	missense	probably benign	0.21
R9115:Dock10	UTSW	1	80512439	missense	probably damaging	1.00
R9327:Dock10	UTSW	1	80532467	missense	probably damaging	1.00
R9342:Dock10	UTSW	1	80592643	missense	probably benign
R9421:Dock10	UTSW	1	80523792	missense	probably damaging	1.00
R9431:Dock10	UTSW	1	80605876	missense	probably damaging	1.00
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	probably benign
Z1177:Dock10	UTSW	1	80559200	missense	probably benign	0.04

Predicted Primers

PCR Primer
(F):5'- AGCTCAGTTGACAGGTTGC -3'
(R):5'- AGAAGCATCCCTCCATCTGC -3'

Sequencing Primer
(F):5'- GAACAGGATGCTTCGCTCTCTG -3'
(R):5'- TCCATCTGCTGCAAATGGAG -3'

Posted On

2014-11-12