Mutagenetix > Incidental Mutation

Incidental Mutation 'R0597:Dock5'

261943

Institutional Source

Beutler Lab

Gene Symbol

Dock5

Ensembl Gene

ENSMUSG00000044447

Gene Name

dedicator of cytokinesis 5

Synonyms

lr2, 1110060D06Rik, rlc

MMRRC Submission

038786-MU

Accession Numbers

Essential gene?

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

Stock #

R0597 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

67752135-67933442 bp(-) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

T to A at 67784934 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000036674 (fasta)

Gene Model

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

AlphaFold

B2RY04

Predicted Effect

probably null
Transcript: ENSMUST00000039135

SMART Domains

Protein: ENSMUSP00000036674
Gene: ENSMUSG00000044447

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

Coding Region Coverage

1x: 99.6%
3x: 99.0%
10x: 97.4%
20x: 94.1%

Validation Efficiency

97% (71/73)

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adcy10	T	C	1: 165,525,062		probably null	Het
Anxa11	T	C	14: 25,874,228	I221T	probably damaging	Het
Arhgap33	C	G	7: 30,526,446	R565P	probably damaging	Het
Bmpr2	T	C	1: 59,841,425		probably benign	Het
Btn2a2	T	A	13: 23,486,410	H51L	probably benign	Het
Casz1	T	C	4: 148,944,394	S1099P	probably benign	Het
Cnot4	A	G	6: 35,051,503	S393P	possibly damaging	Het
Cntnap5a	T	C	1: 116,184,461		probably benign	Het
Cobl	T	C	11: 12,254,699	T586A	probably benign	Het
Crocc	A	G	4: 141,017,071	L1838P	probably benign	Het
Crocc	T	C	4: 141,019,913	K1528R	probably benign	Het
Dact2	A	G	17: 14,197,041	V299A	probably benign	Het
Dapk1	C	A	13: 60,761,384	N1270K	probably benign	Het
Ddx41	T	C	13: 55,533,006	Y375C	probably damaging	Het
Dyrk4	T	G	6: 126,886,649		probably null	Het
Eno1b	T	C	18: 48,047,739	I328T	probably benign	Het
Fam210b	A	G	2: 172,345,853		probably benign	Het
Fbxl13	A	G	5: 21,614,714	I229T	probably benign	Het
Fbxo39	A	G	11: 72,316,921	D33G	probably damaging	Het
Fbxw11	A	G	11: 32,720,496	E120G	probably damaging	Het
Fbxw2	A	T	2: 34,811,020	L261Q	probably damaging	Het
Gm13084	G	T	4: 143,812,652	N90K	probably damaging	Het
Gm5800	A	C	14: 51,716,004	N51K	probably benign	Het
Gm6899	A	G	11: 26,593,768		probably benign	Het
Gm9745	C	A	13: 8,940,766		probably benign	Het
Gpx8	T	C	13: 113,045,501	T133A	possibly damaging	Het
Grin3a	C	T	4: 49,665,351	V1095M	probably damaging	Het
Grip2	T	C	6: 91,796,197		probably benign	Het
Hacd4	A	G	4: 88,437,520	F43L	probably damaging	Het
Hif1a	T	G	12: 73,942,275	S645R	probably benign	Het
Hipk3	A	G	2: 104,433,637	S839P	possibly damaging	Het
Il16	A	T	7: 83,677,975		probably benign	Het
Il3ra	T	A	14: 14,351,166		probably null	Het
Il5ra	A	G	6: 106,744,335	M1T	probably null	Het
Klra2	G	A	6: 131,220,185	R251C	probably benign	Het
Lamc2	C	T	1: 153,133,621	V813M	probably benign	Het
Lbr	A	G	1: 181,832,213	V139A	probably benign	Het
Lrp5	T	C	19: 3,600,777	D1219G	possibly damaging	Het
Map3k6	C	T	4: 133,245,552	P341S	possibly damaging	Het
Mcts2	A	G	2: 152,687,689	E140G	probably benign	Het
Med1	T	C	11: 98,169,438	M222V	probably benign	Het
Mef2a	G	T	7: 67,235,148	S406*	probably null	Het
Muc19	A	T	15: 91,900,502		noncoding transcript	Het
Nr1h2	A	G	7: 44,552,260		probably benign	Het
Olfr1361	C	A	13: 21,659,146	R59L	probably damaging	Het
Olfr205	A	T	16: 59,328,760	F250I	probably damaging	Het
Olfr682-ps1	A	G	7: 105,128,218	V73A	possibly damaging	Het
Olfr71	A	T	4: 43,706,592		probably null	Het
P4hb	G	A	11: 120,568,244	T141I	possibly damaging	Het
Polr3a	A	G	14: 24,484,134	V101A	probably benign	Het
Pou4f2	A	G	8: 78,435,240	S245P	probably benign	Het
Rnpep	A	G	1: 135,272,419	V266A	probably damaging	Het
Scly	G	A	1: 91,309,833	G206R	probably damaging	Het
Sec14l3	A	T	11: 4,074,814	K254N	probably damaging	Het
Sgpp1	A	T	12: 75,735,100	I155N	probably damaging	Het
Slc22a14	A	G	9: 119,172,124	L468P	probably damaging	Het
Slc22a27	A	G	19: 7,865,884	F377L	probably benign	Het
Slc44a3	T	C	3: 121,460,070	I625V	probably benign	Het
Slc47a2	A	T	11: 61,309,976	I373N	probably damaging	Het
Slfn10-ps	A	T	11: 83,035,653		noncoding transcript	Het
Smarcd1	T	A	15: 99,711,094	I383N	probably damaging	Het
Sort1	A	G	3: 108,338,910	D401G	probably damaging	Het
Sprr2a3	G	T	3: 92,288,590	M1I	probably null	Het
Sycp2	A	C	2: 178,356,580	V1049G	possibly damaging	Het
Tecrl	T	A	5: 83,354,928	K10*	probably null	Het
Tnpo3	A	T	6: 29,578,565	C303*	probably null	Het
Vmn2r23	A	G	6: 123,729,721	I503M	probably benign	Het
Zbtb8os	T	A	4: 129,346,877	I164N	probably damaging	Het
Zfp292	T	C	4: 34,807,399	N1882D	probably benign	Het
Zfp91	T	C	19: 12,770,095	I555V	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
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
R6393:Dock5	UTSW	14	67822602	missense	probably benign	0.32
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

Posted On

2015-02-04