Mutagenetix > Incidental Mutation

Incidental Mutation 'R6274:Dock10'

507504

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

044444-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.456) question?

Stock #

R6274 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

80501073-80758527 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 80538823 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 1397 (S1397P)

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: S1410P

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

SMART Domains

Protein: ENSMUSP00000077099
Gene: ENSMUSG00000038608
AA Change: S1410P

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: S1398P

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

SMART Domains

Protein: ENSMUSP00000140085
Gene: ENSMUSG00000038608
AA Change: S1398P

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: S1063P

PolyPhen 2 Score 0.950 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000139567
Gene: ENSMUSG00000038608
AA Change: S1063P

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: S1397P

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

SMART Domains

Protein: ENSMUSP00000140719
Gene: ENSMUSG00000038608
AA Change: S1397P

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: 99.9%
3x: 99.6%
10x: 97.9%
20x: 94.1%

Validation Efficiency

100% (56/56)

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ank3	G	A	10: 70,002,565	R1566K	possibly damaging	Het
Ano1	A	T	7: 144,618,863	S528T	probably benign	Het
Araf	G	T	X: 20,860,100	R601L	probably damaging	Homo
Bcl2l10	T	C	9: 75,351,072	I172T	possibly damaging	Het
Bpifb3	A	T	2: 153,929,323	N385I	possibly damaging	Het
Bsnd	A	G	4: 106,486,635	V158A	probably damaging	Het
Cacna1s	A	G	1: 136,089,045	N481S	probably benign	Het
Cdk5rap1	A	G	2: 154,368,241	V138A	probably damaging	Het
Cep290	A	G	10: 100,530,207	E1099G	probably damaging	Het
Cers1	T	A	8: 70,331,077	L225Q	probably damaging	Het
Cfb	T	C	17: 34,862,093	Q7R	probably benign	Het
Clk4	A	G	11: 51,271,921	S98G	possibly damaging	Het
Clock	A	G	5: 76,237,153	S406P	probably benign	Het
Csmd3	T	C	15: 47,621,437	I3178V	probably benign	Het
Fer1l4	A	G	2: 156,029,268	L1421P	probably damaging	Het
Fetub	C	T	16: 22,932,331	R143C	probably damaging	Het
Greb1	G	T	12: 16,735,151	T91K	probably damaging	Het
Grid2ip	G	A	5: 143,380,429	S379N	probably damaging	Het
Gucy1b2	A	T	14: 62,415,939	C336S	probably damaging	Het
Hdac1	A	G	4: 129,519,109	C261R	probably damaging	Het
Hrasls5	C	T	19: 7,637,466	T231I	probably damaging	Het
Htt	T	C	5: 34,852,087	S1471P	possibly damaging	Het
Ice1	A	G	13: 70,594,839	V2134A	probably damaging	Het
Ikzf1	C	T	11: 11,768,961	Q310*	probably null	Het
Il3ra	G	A	14: 14,350,180	V112I	probably benign	Het
Kif21b	A	G	1: 136,149,418	I393V	possibly damaging	Het
Krt74	T	C	15: 101,763,437		noncoding transcript	Het
Krtap29-1	T	C	11: 99,978,983	N24S	probably null	Het
Mut	T	C	17: 40,956,245	V570A	probably benign	Het
Myh7	T	C	14: 54,979,486	D1138G	probably damaging	Het
Nktr	T	C	9: 121,731,565	I125T	probably damaging	Het
Nlrp2	A	T	7: 5,317,555	L861Q	probably damaging	Het
Notch3	C	A	17: 32,147,290	R990L	probably benign	Het
Nrap	T	C	19: 56,361,721	D655G	probably benign	Het
Olfr1329	A	T	4: 118,917,230	V79E	probably benign	Het
Olfr1451	G	A	19: 12,999,870	V295I	probably damaging	Het
Osbpl11	T	A	16: 33,227,056	I463N	probably damaging	Het
Pcsk6	A	T	7: 66,033,844	R749W	probably damaging	Het
Plxnb1	T	C	9: 109,112,141		probably null	Het
Polr1a	T	A	6: 71,954,890		probably null	Het
Ppm1g	T	C	5: 31,206,406	I153V	probably damaging	Het
Ppp1r12a	T	C	10: 108,260,890	S191P	probably benign	Het
Prodh	T	C	16: 18,081,058	K178E	possibly damaging	Het
Rilpl2	A	G	5: 124,469,848	V103A	possibly damaging	Het
Sap18b	C	T	8: 95,825,541	H60Y	probably benign	Het
Sclt1	A	G	3: 41,629,516		probably null	Het
Serpinb1a	G	T	13: 32,842,866	H364Q	probably damaging	Het
Sez6l	G	A	5: 112,475,365	Q107*	probably null	Het
Sipa1l2	C	T	8: 125,469,872	V708I	probably damaging	Het
Tbc1d2	C	T	4: 46,629,912	G252R	probably benign	Het
Uaca	T	A	9: 60,850,291		probably null	Het
Uqcrc1	C	A	9: 108,942,156	H95N	probably damaging	Het
Usp9y	C	T	Y: 1,316,735	R1938H	probably damaging	Homo
Wnk4	C	T	11: 101,265,431	R42W	probably damaging	Het
Zfp326	T	A	5: 105,905,980	L242Q	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	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
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
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
R9028:Dock10	UTSW	1	80606295	splice site	probably benign
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
R9486:Dock10	UTSW	1	80501735	missense	unknown
R9521:Dock10	UTSW	1	80524046	missense	probably damaging	1.00
R9598:Dock10	UTSW	1	80648222	missense	probably benign	0.15
R9629:Dock10	UTSW	1	80503672	missense
R9703:Dock10	UTSW	1	80539823	missense	probably damaging	0.98
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'- GGAGAAGCAGCTAAGAATTTTCTTC -3'
(R):5'- TGCTGGCACCATTCATCAC -3'

Sequencing Primer
(F):5'- CACACATGCATGTTCACA -3'
(R):5'- CAACCAGAGTTTGACATCAGGTGTC -3'

Posted On

2018-03-15