Mutagenetix > Incidental Mutations

Incidental Mutation 'R7423:Dock10'

575796

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

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.336) question?

Stock #

R7423 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

80501073-80758527 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 80523780 bp

Zygosity

Heterozygous

Amino Acid Change

Alanine to Valine at position 1852 (A1852V)

Ref Sequence

ENSEMBL: ENSMUSP00000140085 (fasta)

Gene Model

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000077946
AA Change: A1864V

PolyPhen 2 Score 0.897 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000077099
Gene: ENSMUSG00000038608
AA Change: A1864V

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: A1852V

PolyPhen 2 Score 0.668 (Sensitivity: 0.86; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000140085
Gene: ENSMUSG00000038608
AA Change: A1852V

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 damaging
Transcript: ENSMUST00000189486
AA Change: A142V

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)

Predicted Effect

probably benign
Transcript: ENSMUST00000190595
AA Change: A1484V

PolyPhen 2 Score 0.059 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000139567
Gene: ENSMUSG00000038608
AA Change: A1484V

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: A1851V

PolyPhen 2 Score 0.897 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000140719
Gene: ENSMUSG00000038608
AA Change: A1851V

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

Meta Mutation Damage Score

0.0858

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 98.8%

Validation Efficiency

96% (91/95)

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: 93 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsbg2	A	T	17: 56,868,257	M85K	probably benign	Het
Actn4	C	T	7: 28,894,255	A905T	probably damaging	Het
Aff1	T	A	5: 103,847,101	V1055D	probably damaging	Het
AI481877	A	T	4: 59,076,264	S560T	probably benign	Het
Aox3	A	G	1: 58,121,069	E137G	possibly damaging	Het
Apaf1	A	T	10: 91,059,606	D443E	probably damaging	Het
Arl5b	C	A	2: 15,068,172	A28E	probably damaging	Het
Atg16l1	T	C	1: 87,786,301	V478A	probably damaging	Het
Atp6v1f	G	C	6: 29,468,106	E13Q	probably null	Het
Atpaf1	A	T	4: 115,790,630	K162M	probably damaging	Het
C3	A	T	17: 57,214,767	L1100Q	probably damaging	Het
Ccr1	A	G	9: 123,964,385	L36P	probably damaging	Het
Cct3	T	C	3: 88,309,196	L153S	probably benign	Het
Chd4	A	G	6: 125,128,859	D1813G	possibly damaging	Het
Chrm3	T	C	13: 9,878,809	I64V	probably benign	Het
Cnot2	A	T	10: 116,492,398	V477E	probably damaging	Het
Csf2rb2	T	A	15: 78,292,560	I211F	possibly damaging	Het
Dnah8	T	C	17: 30,704,769	L1237P	possibly damaging	Het
Dnttip2	T	C	3: 122,275,526	V130A	probably benign	Het
Dock3	A	G	9: 106,967,171	V910A	probably damaging	Het
Fbrs	G	A	7: 127,489,461	W738*	probably null	Het
Fmnl3	T	A	15: 99,329,400	D162V	probably damaging	Het
Fosl2	A	G	5: 32,150,463	R133G	probably damaging	Het
Frmpd1	A	G	4: 45,256,948	Q172R	probably damaging	Het
Fsd1l	A	T	4: 53,686,406	D273V	probably damaging	Het
Fstl4	T	A	11: 53,068,555	M141K	possibly damaging	Het
Gcfc2	A	G	6: 81,946,560	D535G	probably damaging	Het
Gm19410	A	C	8: 35,804,607	D1277A	probably benign	Het
Gnmt	T	A	17: 46,726,140	N211Y	probably damaging	Het
Hic2	A	G	16: 17,258,129	D274G	probably damaging	Het
Hnrnpu	A	G	1: 178,329,284		probably benign	Het
Icam5	T	C	9: 21,036,905	S670P	probably benign	Het
Ighv5-4	A	T	12: 113,597,500	L100Q	probably damaging	Het
Il17rb	A	T	14: 29,997,115	S337T	probably damaging	Het
Inf2	G	T	12: 112,609,738	R883L	unknown	Het
Inhbc	C	T	10: 127,357,406	C247Y	probably damaging	Het
Ints4	A	G	7: 97,507,719	K333E	probably damaging	Het
Iyd	A	T	10: 3,547,088	I148F	probably damaging	Het
Klk1b26	A	T	7: 44,014,769	D16V	probably damaging	Het
Krt15	A	T	11: 100,135,560	V100E	possibly damaging	Het
Lama2	A	T	10: 27,212,226	S852T	probably benign	Het
Mbtd1	A	G	11: 93,943,796	E600G	probably benign	Het
Mfap3	T	G	11: 57,529,503	N103K	probably damaging	Het
Mtor	G	A	4: 148,556,344	E2536K	possibly damaging	Het
Mug2	G	A	6: 122,079,726	S1210N	probably benign	Het
Nat8	G	A	6: 85,830,495	L219F	probably benign	Het
Nisch	A	G	14: 31,171,701	V1305A	probably benign	Het
Nup153	A	T	13: 46,696,644		probably null	Het
Olfr401	G	A	11: 74,121,985	R232H	probably benign	Het
Otud6b	A	T	4: 14,825,858		probably null	Het
Pbld2	A	G	10: 63,048,004	T83A	probably damaging	Het
Pcx	A	T	19: 4,621,178	M1144L	probably benign	Het
Pdpk1	C	A	17: 24,110,900	R81L	probably benign	Het
Pik3cd	A	T	4: 149,651,763		probably null	Het
Plch2	A	C	4: 154,983,737	D1477E	probably damaging	Het
Plek2	A	G	12: 78,900,110	I51T	probably damaging	Het
Plekhn1	A	G	4: 156,230,685	V505A	probably benign	Het
Pofut2	T	C	10: 77,262,439	S129P	possibly damaging	Het
Prdx5	C	A	19: 6,910,002		probably benign	Het
Proca1	G	T	11: 78,194,817		probably benign	Het
Prrxl1	A	G	14: 32,628,821	S205G	probably damaging	Het
Ptprs	A	C	17: 56,414,793	Y1752D	probably damaging	Het
Pum1	G	A	4: 130,774,545	V1127M	probably damaging	Het
Ralbp1	T	C	17: 65,858,981	R403G	probably damaging	Het
Reps1	A	T	10: 18,093,887	H246L	possibly damaging	Het
Rps6kc1	A	C	1: 190,799,096	M903R	probably damaging	Het
Rubcnl	A	G	14: 75,049,643	T584A	probably benign	Het
Samd9l	A	T	6: 3,374,408	V951E	probably damaging	Het
Sbf2	A	G	7: 110,438,848	F463L	possibly damaging	Het
Sdr16c6	G	A	4: 4,076,921		probably benign	Het
Slc26a8	A	G	17: 28,648,203	I548T	probably benign	Het
Slc2a13	T	A	15: 91,572,680	I140F	probably damaging	Het
Smtn	A	T	11: 3,531,200		probably null	Het
Sobp	G	T	10: 43,022,568	C340*	probably null	Het
Sox6	A	T	7: 115,550,023	V413E	probably benign	Het
Spin1	T	C	13: 51,123,290		probably null	Het
Sra1	T	C	18: 36,667,483	T224A	probably benign	Het
Sv2c	A	T	13: 96,048,548	F207Y	probably benign	Het
Tcp10c	T	A	17: 13,361,241		probably null	Het
Tcrg-V6	G	T	13: 19,190,644	G40W	possibly damaging	Het
Tkt	G	A	14: 30,571,035	G490S	possibly damaging	Het
Tpgs1	G	T	10: 79,675,821	A266S	probably damaging	Het
Tprg	T	G	16: 25,422,253	S260A	probably damaging	Het
Trdv2-1	T	A	14: 53,946,478	W56R	probably damaging	Het
Trpc4	T	A	3: 54,318,029	V933E	probably benign	Het
Ulk4	A	T	9: 121,103,621	M1051K	possibly damaging	Het
Unc119b	A	G	5: 115,134,684	L76P	probably damaging	Het
Vmn2r15	G	A	5: 109,297,528	S10F	probably benign	Het
Vwce	A	G	19: 10,664,340	E810G	probably benign	Het
Wdr7	T	A	18: 63,777,380		probably null	Het
Wnk2	T	A	13: 49,038,132	E1283V	probably benign	Het
Zfp28	T	C	7: 6,393,957	C464R	probably damaging	Het
Zpld1	C	T	16: 55,233,664	C255Y	probably damaging	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
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
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	probably benign
Z1177:Dock10	UTSW	1	80559200	missense	probably benign	0.04

Predicted Primers

PCR Primer
(F):5'- GGTTCAGACTAATCCCACCC -3'
(R):5'- TCGCTGTCTTTGAAAAGCAACG -3'

Sequencing Primer
(F):5'- ACCCCCAAGTCTACTAGTGCTTG -3'
(R):5'- GCAACGAGACTTCAAAGTATGTGATC -3'

Posted On

2019-10-07