Mutagenetix > Incidental Mutation

Incidental Mutation 'R6393:Dock5'

515896

Institutional Source

Beutler Lab

Gene Symbol

Dock5

Ensembl Gene

ENSMUSG00000044447

Gene Name

dedicator of cytokinesis 5

Synonyms

lr2, 1110060D06Rik, rlc

MMRRC Submission

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.371) question?

Stock #

R6393 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

67752135-67933442 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 67822602 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Proline to Serine at position 463 (P463S)

Ref Sequence

ENSEMBL: ENSMUSP00000036674 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000039135]

AlphaFold

B2RY04

Predicted Effect

probably benign
Transcript: ENSMUST00000039135
AA Change: P463S

PolyPhen 2 Score 0.319 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000036674
Gene: ENSMUSG00000044447
AA Change: P463S

Domain	Start	End	E-Value	Type
SH3	11	68	1.45e-13	SMART
Pfam:DOCK_N	71	434	9e-110	PFAM
Pfam:DOCK-C2	439	636	1.1e-57	PFAM
low complexity region	752	764	N/A	INTRINSIC
Pfam:DHR-2	1133	1635	6.4e-99	PFAM
low complexity region	1663	1692	N/A	INTRINSIC
low complexity region	1815	1824	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000224823

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.1%
20x: 96.8%

Validation Efficiency

99% (70/71)

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 act as guanine nucleotide exchange factors for small Rho family G proteins. The protein encoded by this gene is thought to associate with adaptors CRK and CRKL, and function in regulation of intestinal epithelial cell spreading and migration on collagen IV. Similar proteins in mouse and zebrafish also function in myoblast fusion. [provided by RefSeq, Oct 2016]
PHENOTYPE: Mutations at this locus result in lens abnormalities involving cataracts and rupturing of the lens nucleus. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A130010J15Rik	A	G	1: 193,174,382	Q14R	possibly damaging	Het
Adamts12	A	G	15: 11,255,635	D430G	probably damaging	Het
Agxt2	T	C	15: 10,393,808		probably null	Het
Akirin1	T	G	4: 123,743,531	Q87P	possibly damaging	Het
Ank2	G	A	3: 126,929,757	R974C	probably damaging	Het
Arhgap23	A	G	11: 97,463,672	I804V	probably damaging	Het
Arhgef28	A	T	13: 97,994,019	L437Q	possibly damaging	Het
Atp8a2	G	T	14: 59,773,755	Y967*	probably null	Het
Calcr	A	G	6: 3,708,586	L200S	probably damaging	Het
Ccdc80	T	A	16: 45,096,465	V528D	possibly damaging	Het
Chd6	A	G	2: 160,979,487	Y1296H	probably damaging	Het
Chst13	G	A	6: 90,325,081	R28C	possibly damaging	Het
Clrn1	A	G	3: 58,846,320	F207L	probably damaging	Het
Col12a1	T	C	9: 79,655,485	T1772A	probably damaging	Het
Cubn	T	C	2: 13,355,680	T1744A	probably benign	Het
Dchs2	A	G	3: 83,129,911	E655G	probably damaging	Het
Dnajb3	T	A	1: 88,205,662	E6V	possibly damaging	Het
Fancd2	T	A	6: 113,578,413	C1128S	probably benign	Het
Fcrl5	G	A	3: 87,448,327	G449E	probably damaging	Het
Frem2	G	T	3: 53,585,640	N1818K	possibly damaging	Het
Gm21149	C	A	5: 15,473,039	V187L	possibly damaging	Het
Gm8994	A	G	6: 136,328,598	K19R	probably benign	Het
Gpat2	G	C	2: 127,431,918	G294R	possibly damaging	Het
Gstm7	A	G	3: 107,930,826		probably null	Het
Htr1b	T	A	9: 81,631,757	I266F	probably benign	Het
Jakmip3	T	C	7: 139,019,171	I305T	probably damaging	Het
Kif13a	C	T	13: 46,752,455	V671M	possibly damaging	Het
Kifc5b	T	C	17: 26,921,842	C97R	probably benign	Het
Klhl30	A	T	1: 91,361,190	H557L	probably damaging	Het
Lama3	T	C	18: 12,479,756	V1199A	probably benign	Het
Lmbr1	A	G	5: 29,254,294	L246P	probably damaging	Het
M6pr	T	C	6: 122,315,380	L178P	possibly damaging	Het
Med17	A	G	9: 15,274,583	S212P	probably damaging	Het
Med23	T	A	10: 24,873,476	S31T	possibly damaging	Het
Morc2b	T	G	17: 33,137,776	T341P	probably damaging	Het
Mre11a	A	G	9: 14,785,509	M1V	probably null	Het
Mrpl17	T	C	7: 105,809,915	H158R	probably benign	Het
Mstn	A	G	1: 53,066,489	Q330R	probably benign	Het
Muc16	T	A	9: 18,647,399	K2533*	probably null	Het
N4bp2	T	C	5: 65,791,001	S325P	possibly damaging	Het
Nadk	A	G	4: 155,589,351	Y399C	possibly damaging	Het
Nbea	A	C	3: 56,091,119	L89R	probably damaging	Het
Ncoa1	A	G	12: 4,278,181	F775L	probably benign	Het
Ndufa11	C	A	17: 56,721,331	A70E	probably damaging	Het
Nfx1	A	G	4: 40,976,851	Y175C	possibly damaging	Het
Olfr1121	A	G	2: 87,371,565	N11S	probably damaging	Het
Olfr1419	A	T	19: 11,870,727	L163Q	probably damaging	Het
Pcsk6	T	C	7: 65,969,014	S443P	probably damaging	Het
Pcsk9	T	C	4: 106,447,596	D425G	probably benign	Het
Pdcd1lg2	T	A	19: 29,437,298	C42S	probably damaging	Het
Peg10	GC	GCTCC	6: 4,756,452		probably benign	Het
Rbm46	G	A	3: 82,863,955	T451M	probably benign	Het
Rcan2	T	A	17: 43,953,479	V10D	probably benign	Het
Rpl7l1	T	C	17: 46,782,622	E4G	probably benign	Het
Rptn	A	G	3: 93,397,199	E613G	probably benign	Het
Sbk2	T	C	7: 4,957,622	D183G	probably damaging	Het
Slc15a4	C	T	5: 127,616,886	A162T	probably benign	Het
Slc30a4	A	G	2: 122,686,046	W315R	probably damaging	Het
Slc39a14	G	C	14: 70,309,813	F361L	probably benign	Het
Slc6a13	T	C	6: 121,336,842	Y515H	possibly damaging	Het
Slitrk3	C	A	3: 73,049,914	K508N	possibly damaging	Het
Stard4	T	C	18: 33,205,225	D144G	probably benign	Het
Tlr9	T	C	9: 106,224,937	F476L	probably damaging	Het
Tshz1	A	T	18: 84,013,220	V1021D	probably damaging	Het
Vmn1r54	A	T	6: 90,269,322	I73F	probably benign	Het
Vmn2r19	A	C	6: 123,316,153	S385R	possibly damaging	Het
Xkr5	A	G	8: 18,948,700	L34P	probably damaging	Het
Xpo4	A	G	14: 57,638,313	V121A	probably damaging	Het
Zbtb40	T	A	4: 136,984,866	H268L	probably null	Het
Zfp865	T	C	7: 5,030,066	F350S	probably damaging	Het
Zscan4b	T	C	7: 10,900,901	I472V	possibly damaging	Het

Other mutations in Dock5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00504:Dock5	APN	14	67786889	splice site	probably benign
IGL00930:Dock5	APN	14	67771077	missense	probably damaging	1.00
IGL01525:Dock5	APN	14	67805720	splice site	probably benign
IGL01759:Dock5	APN	14	67881259	nonsense	probably null
IGL01941:Dock5	APN	14	67812232	missense	probably damaging	1.00
IGL02025:Dock5	APN	14	67763287	missense	probably damaging	1.00
IGL02093:Dock5	APN	14	67839543	splice site	probably benign
IGL02179:Dock5	APN	14	67806496	splice site	probably benign
IGL02208:Dock5	APN	14	67828450	missense	probably benign	0.06
IGL02605:Dock5	APN	14	67828438	missense	probably benign	0.18
IGL02608:Dock5	APN	14	67828439	missense	probably benign	0.01
IGL02938:Dock5	APN	14	67757218	splice site	probably benign
IGL02971:Dock5	APN	14	67757109	missense	probably null	1.00
IGL02983:Dock5	APN	14	67764670	missense	probably damaging	1.00
IGL03151:Dock5	APN	14	67866067	missense	probably damaging	1.00
IGL03410:Dock5	APN	14	67846086	missense	probably benign	0.04
PIT4366001:Dock5	UTSW	14	67824674	missense	possibly damaging	0.83
R0026:Dock5	UTSW	14	67846081	missense	probably benign	0.00
R0058:Dock5	UTSW	14	67781036	missense	probably benign	0.00
R0058:Dock5	UTSW	14	67781036	missense	probably benign	0.00
R0112:Dock5	UTSW	14	67819641	missense	probably benign
R0127:Dock5	UTSW	14	67846042	missense	probably benign	0.13
R0144:Dock5	UTSW	14	67786286	missense	probably benign	0.18
R0312:Dock5	UTSW	14	67795991	missense	possibly damaging	0.82
R0360:Dock5	UTSW	14	67822680	splice site	probably benign
R0364:Dock5	UTSW	14	67822680	splice site	probably benign
R0496:Dock5	UTSW	14	67817518	missense	probably damaging	1.00
R0506:Dock5	UTSW	14	67784792	splice site	probably benign
R0586:Dock5	UTSW	14	67809032	missense	probably damaging	1.00
R0597:Dock5	UTSW	14	67784934	splice site	probably null
R0625:Dock5	UTSW	14	67841163	missense	probably benign
R1109:Dock5	UTSW	14	67806478	missense	possibly damaging	0.80
R1221:Dock5	UTSW	14	67759161	missense	probably benign	0.00
R1278:Dock5	UTSW	14	67839566	missense	possibly damaging	0.80
R1927:Dock5	UTSW	14	67846062	missense	possibly damaging	0.60
R1944:Dock5	UTSW	14	67757135	nonsense	probably null
R1946:Dock5	UTSW	14	67786316	missense	probably damaging	1.00
R2046:Dock5	UTSW	14	67812142	missense	probably benign
R2101:Dock5	UTSW	14	67794010	missense	probably benign	0.02
R2252:Dock5	UTSW	14	67784812	missense	probably damaging	0.98
R2882:Dock5	UTSW	14	67839620	missense	probably damaging	0.99
R3110:Dock5	UTSW	14	67857922	missense	possibly damaging	0.72
R3112:Dock5	UTSW	14	67857922	missense	possibly damaging	0.72
R4236:Dock5	UTSW	14	67756492	missense	probably benign	0.02
R4242:Dock5	UTSW	14	67828490	missense	probably benign	0.19
R4244:Dock5	UTSW	14	67774582	missense	probably benign	0.41
R4646:Dock5	UTSW	14	67842779	missense	probably benign	0.01
R4793:Dock5	UTSW	14	67800354	missense	probably benign	0.26
R4841:Dock5	UTSW	14	67817563	missense	probably damaging	0.98
R4842:Dock5	UTSW	14	67817563	missense	probably damaging	0.98
R5159:Dock5	UTSW	14	67792289	missense	probably benign	0.04
R5164:Dock5	UTSW	14	67817661	nonsense	probably null
R5206:Dock5	UTSW	14	67763184	missense	probably benign	0.35
R5207:Dock5	UTSW	14	67776284	missense	probably benign	0.06
R5322:Dock5	UTSW	14	67770266	missense	probably benign	0.41
R5374:Dock5	UTSW	14	67805756	missense	possibly damaging	0.81
R5413:Dock5	UTSW	14	67764655	missense	probably damaging	1.00
R5476:Dock5	UTSW	14	67814007	missense	possibly damaging	0.92
R5504:Dock5	UTSW	14	67803086	missense	probably benign	0.01
R5677:Dock5	UTSW	14	67777603	missense	probably benign	0.00
R5773:Dock5	UTSW	14	67796058	missense	possibly damaging	0.95
R5845:Dock5	UTSW	14	67841101	missense	possibly damaging	0.82
R5957:Dock5	UTSW	14	67857994	missense	probably benign
R6154:Dock5	UTSW	14	67859912	missense	probably benign	0.03
R6268:Dock5	UTSW	14	67790275	nonsense	probably null
R6512:Dock5	UTSW	14	67824648	missense	possibly damaging	0.93
R6759:Dock5	UTSW	14	67795996	missense	probably benign	0.00
R7012:Dock5	UTSW	14	67822586	missense	probably damaging	1.00
R7061:Dock5	UTSW	14	67770254	missense	probably damaging	0.96
R7196:Dock5	UTSW	14	67756470	missense	probably damaging	1.00
R7200:Dock5	UTSW	14	67771702	nonsense	probably null
R7311:Dock5	UTSW	14	67828502	missense	probably benign	0.25
R7359:Dock5	UTSW	14	67765888	missense	probably benign	0.10
R7422:Dock5	UTSW	14	67809030	missense	probably benign	0.01
R7588:Dock5	UTSW	14	67763158	critical splice donor site	probably null
R7637:Dock5	UTSW	14	67786340	missense	possibly damaging	0.95
R7709:Dock5	UTSW	14	67796005	missense	probably benign	0.44
R7763:Dock5	UTSW	14	67821327	missense	probably damaging	0.97
R8044:Dock5	UTSW	14	67824692	missense	probably damaging	1.00
R8076:Dock5	UTSW	14	67802977	splice site	probably null
R8168:Dock5	UTSW	14	67770197	splice site	probably null
R8353:Dock5	UTSW	14	67817508	splice site	probably null
R8480:Dock5	UTSW	14	67836410	missense	probably benign	0.32
R8535:Dock5	UTSW	14	67793976	missense	probably benign	0.19
R8708:Dock5	UTSW	14	67767371	missense	probably benign	0.02
R8732:Dock5	UTSW	14	67846000	missense	possibly damaging	0.85
R8888:Dock5	UTSW	14	67817663	missense	possibly damaging	0.95
R8895:Dock5	UTSW	14	67817663	missense	possibly damaging	0.95
R8936:Dock5	UTSW	14	67845990	nonsense	probably null
R8962:Dock5	UTSW	14	67757191	missense	probably benign
R8972:Dock5	UTSW	14	67776300	missense	probably damaging	1.00
R9244:Dock5	UTSW	14	67759114	missense	probably damaging	0.99
R9345:Dock5	UTSW	14	67822622	missense	possibly damaging	0.74
R9679:Dock5	UTSW	14	67781001	missense	probably damaging	1.00
X0023:Dock5	UTSW	14	67771088	missense	probably benign	0.15
Z1177:Dock5	UTSW	14	67813933	missense	possibly damaging	0.90

Predicted Primers

PCR Primer
(F):5'- TGATGCATACCTGTGATCCC -3'
(R):5'- CTGTGGAATAAGCAGGCCATTAC -3'

Sequencing Primer
(F):5'- TGCATACCTGTGATCCCAAAGTAAG -3'
(R):5'- GGCCATTACCAGCAGACTG -3'

Posted On

2018-05-04