Mutagenetix > Incidental Mutation

Incidental Mutation 'R5206:Dock5'

402046

Institutional Source

Beutler Lab

Gene Symbol

Dock5

Ensembl Gene

ENSMUSG00000044447

Gene Name

dedicator of cytokinesis 5

Synonyms

1110060D06Rik, rlc, lr2

MMRRC Submission

042781-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.389) question?

Stock #

R5206 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

67989584-68170891 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 68000633 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Glutamic Acid at position 1690 (A1690E)

Ref Sequence

ENSEMBL: ENSMUSP00000036674 (fasta)

Gene Model

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

AlphaFold

B2RY04

Predicted Effect

probably benign
Transcript: ENSMUST00000039135
AA Change: A1690E

PolyPhen 2 Score 0.347 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000036674
Gene: ENSMUSG00000044447
AA Change: A1690E

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: ENSMUST00000226033

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.8%

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 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: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	A	G	3: 137,772,272 (GRCm39)	E487G	probably benign	Het
2610021A01Rik	A	T	7: 41,276,009 (GRCm39)	K571*	probably null	Het
A2m	T	C	6: 121,651,766 (GRCm39)	V1278A	probably damaging	Het
Abcc2	T	C	19: 43,806,589 (GRCm39)	V801A	probably damaging	Het
Acod1	T	A	14: 103,292,731 (GRCm39)	D418E	possibly damaging	Het
Bsn	G	A	9: 107,982,572 (GRCm39)	A3727V	unknown	Het
Cmah	T	G	13: 24,648,267 (GRCm39)	F501V	probably damaging	Het
Csf2rb2	T	A	15: 78,176,952 (GRCm39)	I173L	probably benign	Het
Dnah12	T	C	14: 26,491,942 (GRCm39)	W1126R	probably damaging	Het
Dop1b	T	C	16: 93,598,472 (GRCm39)	L1879P	probably damaging	Het
Eif3j2	A	T	18: 43,610,647 (GRCm39)	D55E	probably benign	Het
Fam83f	G	A	15: 80,576,255 (GRCm39)	G302D	possibly damaging	Het
Fus	G	A	7: 127,568,969 (GRCm39)	G40D	unknown	Het
Glrp1	GTGCTGCTGCTGCTGCTGCTGCTGCTG	GTGCTGCTGCTGCTGCTGCTGCTG	1: 88,430,997 (GRCm39)		probably benign	Het
Gxylt2	T	C	6: 100,781,576 (GRCm39)	V417A	probably damaging	Het
Hhipl1	G	A	12: 108,278,437 (GRCm39)	R255H	probably damaging	Het
Ints8	A	T	4: 11,216,477 (GRCm39)	I838N	possibly damaging	Het
Lama5	C	A	2: 179,833,097 (GRCm39)	C1579F	probably damaging	Het
Med13	C	T	11: 86,210,705 (GRCm39)	R479H	probably damaging	Het
Or51ag1	A	T	7: 103,155,309 (GRCm39)	Y281*	probably null	Het
Or5b113	G	T	19: 13,342,429 (GRCm39)	G146C	possibly damaging	Het
Or5k15	G	T	16: 58,710,381 (GRCm39)	N67K	probably damaging	Het
Or6e1	T	A	14: 54,520,155 (GRCm39)	M66L	probably benign	Het
Or9g3	T	A	2: 85,589,967 (GRCm39)	Y251F	probably benign	Het
Pak6	A	G	2: 118,523,784 (GRCm39)	E313G	probably benign	Het
Pigs	T	A	11: 78,224,549 (GRCm39)	Y145N	probably damaging	Het
Pla2g2f	T	A	4: 138,479,662 (GRCm39)	D165V	probably benign	Het
Plbd1	C	T	6: 136,618,154 (GRCm39)	V133M	probably benign	Het
Ppp1r14bl	C	T	1: 23,141,183 (GRCm39)	G44R	probably benign	Het
Ryr3	T	C	2: 112,675,056 (GRCm39)	Y1352C	probably damaging	Het
Scamp1	C	T	13: 94,368,615 (GRCm39)	R51H	probably damaging	Het
Skic3	G	A	13: 76,295,886 (GRCm39)	E1050K	possibly damaging	Het
Slc2a2	G	A	3: 28,762,756 (GRCm39)	V100M	probably damaging	Het
Slc38a10	C	G	11: 119,995,888 (GRCm39)	A1062P	probably damaging	Het
Snai1	T	C	2: 167,380,888 (GRCm39)	I127T	probably benign	Het
Stat4	G	A	1: 52,144,395 (GRCm39)	G692D	probably damaging	Het
Stc1	A	T	14: 69,269,048 (GRCm39)	D72V	probably damaging	Het
Tmc1	T	C	19: 20,804,024 (GRCm39)	N351S	probably damaging	Het
Trim28	A	G	7: 12,759,275 (GRCm39)	I130V	probably benign	Het
Trim39	A	G	17: 36,571,382 (GRCm39)	Y459H	probably damaging	Het
Ugt1a6b	C	A	1: 88,035,170 (GRCm39)	Y169*	probably null	Het
Vasp	T	C	7: 18,992,780 (GRCm39)		probably benign	Het
Vmn2r99	G	T	17: 19,598,868 (GRCm39)	G184V	probably benign	Het
Xrcc1	C	T	7: 24,266,988 (GRCm39)	T358I	probably damaging	Het
Zfp219	A	G	14: 52,247,022 (GRCm39)	V35A	probably benign	Het

Other mutations in Dock5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00504:Dock5	APN	14	68,024,338 (GRCm39)	splice site	probably benign
IGL00930:Dock5	APN	14	68,008,526 (GRCm39)	missense	probably damaging	1.00
IGL01525:Dock5	APN	14	68,043,169 (GRCm39)	splice site	probably benign
IGL01759:Dock5	APN	14	68,118,708 (GRCm39)	nonsense	probably null
IGL01941:Dock5	APN	14	68,049,681 (GRCm39)	missense	probably damaging	1.00
IGL02025:Dock5	APN	14	68,000,736 (GRCm39)	missense	probably damaging	1.00
IGL02093:Dock5	APN	14	68,076,992 (GRCm39)	splice site	probably benign
IGL02179:Dock5	APN	14	68,043,945 (GRCm39)	splice site	probably benign
IGL02208:Dock5	APN	14	68,065,899 (GRCm39)	missense	probably benign	0.06
IGL02605:Dock5	APN	14	68,065,887 (GRCm39)	missense	probably benign	0.18
IGL02608:Dock5	APN	14	68,065,888 (GRCm39)	missense	probably benign	0.01
IGL02938:Dock5	APN	14	67,994,667 (GRCm39)	splice site	probably benign
IGL02971:Dock5	APN	14	67,994,558 (GRCm39)	missense	probably null	1.00
IGL02983:Dock5	APN	14	68,002,119 (GRCm39)	missense	probably damaging	1.00
IGL03151:Dock5	APN	14	68,103,516 (GRCm39)	missense	probably damaging	1.00
IGL03410:Dock5	APN	14	68,083,535 (GRCm39)	missense	probably benign	0.04
PIT4366001:Dock5	UTSW	14	68,062,123 (GRCm39)	missense	possibly damaging	0.83
R0026:Dock5	UTSW	14	68,083,530 (GRCm39)	missense	probably benign	0.00
R0058:Dock5	UTSW	14	68,018,485 (GRCm39)	missense	probably benign	0.00
R0058:Dock5	UTSW	14	68,018,485 (GRCm39)	missense	probably benign	0.00
R0112:Dock5	UTSW	14	68,057,090 (GRCm39)	missense	probably benign
R0127:Dock5	UTSW	14	68,083,491 (GRCm39)	missense	probably benign	0.13
R0144:Dock5	UTSW	14	68,023,735 (GRCm39)	missense	probably benign	0.18
R0312:Dock5	UTSW	14	68,033,440 (GRCm39)	missense	possibly damaging	0.82
R0360:Dock5	UTSW	14	68,060,129 (GRCm39)	splice site	probably benign
R0364:Dock5	UTSW	14	68,060,129 (GRCm39)	splice site	probably benign
R0496:Dock5	UTSW	14	68,054,967 (GRCm39)	missense	probably damaging	1.00
R0506:Dock5	UTSW	14	68,022,241 (GRCm39)	splice site	probably benign
R0586:Dock5	UTSW	14	68,046,481 (GRCm39)	missense	probably damaging	1.00
R0597:Dock5	UTSW	14	68,022,383 (GRCm39)	splice site	probably null
R0625:Dock5	UTSW	14	68,078,612 (GRCm39)	missense	probably benign
R1109:Dock5	UTSW	14	68,043,927 (GRCm39)	missense	possibly damaging	0.80
R1221:Dock5	UTSW	14	67,996,610 (GRCm39)	missense	probably benign	0.00
R1278:Dock5	UTSW	14	68,077,015 (GRCm39)	missense	possibly damaging	0.80
R1927:Dock5	UTSW	14	68,083,511 (GRCm39)	missense	possibly damaging	0.60
R1944:Dock5	UTSW	14	67,994,584 (GRCm39)	nonsense	probably null
R1946:Dock5	UTSW	14	68,023,765 (GRCm39)	missense	probably damaging	1.00
R2046:Dock5	UTSW	14	68,049,591 (GRCm39)	missense	probably benign
R2101:Dock5	UTSW	14	68,031,459 (GRCm39)	missense	probably benign	0.02
R2252:Dock5	UTSW	14	68,022,261 (GRCm39)	missense	probably damaging	0.98
R2882:Dock5	UTSW	14	68,077,069 (GRCm39)	missense	probably damaging	0.99
R3110:Dock5	UTSW	14	68,095,371 (GRCm39)	missense	possibly damaging	0.72
R3112:Dock5	UTSW	14	68,095,371 (GRCm39)	missense	possibly damaging	0.72
R4236:Dock5	UTSW	14	67,993,941 (GRCm39)	missense	probably benign	0.02
R4242:Dock5	UTSW	14	68,065,939 (GRCm39)	missense	probably benign	0.19
R4244:Dock5	UTSW	14	68,012,031 (GRCm39)	missense	probably benign	0.41
R4646:Dock5	UTSW	14	68,080,228 (GRCm39)	missense	probably benign	0.01
R4793:Dock5	UTSW	14	68,037,803 (GRCm39)	missense	probably benign	0.26
R4841:Dock5	UTSW	14	68,055,012 (GRCm39)	missense	probably damaging	0.98
R4842:Dock5	UTSW	14	68,055,012 (GRCm39)	missense	probably damaging	0.98
R5159:Dock5	UTSW	14	68,029,738 (GRCm39)	missense	probably benign	0.04
R5164:Dock5	UTSW	14	68,055,110 (GRCm39)	nonsense	probably null
R5207:Dock5	UTSW	14	68,013,733 (GRCm39)	missense	probably benign	0.06
R5322:Dock5	UTSW	14	68,007,715 (GRCm39)	missense	probably benign	0.41
R5374:Dock5	UTSW	14	68,043,205 (GRCm39)	missense	possibly damaging	0.81
R5413:Dock5	UTSW	14	68,002,104 (GRCm39)	missense	probably damaging	1.00
R5476:Dock5	UTSW	14	68,051,456 (GRCm39)	missense	possibly damaging	0.92
R5504:Dock5	UTSW	14	68,040,535 (GRCm39)	missense	probably benign	0.01
R5677:Dock5	UTSW	14	68,015,052 (GRCm39)	missense	probably benign	0.00
R5773:Dock5	UTSW	14	68,033,507 (GRCm39)	missense	possibly damaging	0.95
R5845:Dock5	UTSW	14	68,078,550 (GRCm39)	missense	possibly damaging	0.82
R5957:Dock5	UTSW	14	68,095,443 (GRCm39)	missense	probably benign
R6154:Dock5	UTSW	14	68,097,361 (GRCm39)	missense	probably benign	0.03
R6268:Dock5	UTSW	14	68,027,724 (GRCm39)	nonsense	probably null
R6393:Dock5	UTSW	14	68,060,051 (GRCm39)	missense	probably benign	0.32
R6512:Dock5	UTSW	14	68,062,097 (GRCm39)	missense	possibly damaging	0.93
R6759:Dock5	UTSW	14	68,033,445 (GRCm39)	missense	probably benign	0.00
R7012:Dock5	UTSW	14	68,060,035 (GRCm39)	missense	probably damaging	1.00
R7061:Dock5	UTSW	14	68,007,703 (GRCm39)	missense	probably damaging	0.96
R7196:Dock5	UTSW	14	67,993,919 (GRCm39)	missense	probably damaging	1.00
R7200:Dock5	UTSW	14	68,009,151 (GRCm39)	nonsense	probably null
R7311:Dock5	UTSW	14	68,065,951 (GRCm39)	missense	probably benign	0.25
R7359:Dock5	UTSW	14	68,003,337 (GRCm39)	missense	probably benign	0.10
R7422:Dock5	UTSW	14	68,046,479 (GRCm39)	missense	probably benign	0.01
R7588:Dock5	UTSW	14	68,000,607 (GRCm39)	critical splice donor site	probably null
R7637:Dock5	UTSW	14	68,023,789 (GRCm39)	missense	possibly damaging	0.95
R7709:Dock5	UTSW	14	68,033,454 (GRCm39)	missense	probably benign	0.44
R7763:Dock5	UTSW	14	68,058,776 (GRCm39)	missense	probably damaging	0.97
R8044:Dock5	UTSW	14	68,062,141 (GRCm39)	missense	probably damaging	1.00
R8076:Dock5	UTSW	14	68,040,426 (GRCm39)	splice site	probably null
R8168:Dock5	UTSW	14	68,007,646 (GRCm39)	splice site	probably null
R8353:Dock5	UTSW	14	68,054,957 (GRCm39)	splice site	probably null
R8480:Dock5	UTSW	14	68,073,859 (GRCm39)	missense	probably benign	0.32
R8535:Dock5	UTSW	14	68,031,425 (GRCm39)	missense	probably benign	0.19
R8708:Dock5	UTSW	14	68,004,820 (GRCm39)	missense	probably benign	0.02
R8732:Dock5	UTSW	14	68,083,449 (GRCm39)	missense	possibly damaging	0.85
R8888:Dock5	UTSW	14	68,055,112 (GRCm39)	missense	possibly damaging	0.95
R8895:Dock5	UTSW	14	68,055,112 (GRCm39)	missense	possibly damaging	0.95
R8936:Dock5	UTSW	14	68,083,439 (GRCm39)	nonsense	probably null
R8962:Dock5	UTSW	14	67,994,640 (GRCm39)	missense	probably benign
R8972:Dock5	UTSW	14	68,013,749 (GRCm39)	missense	probably damaging	1.00
R9244:Dock5	UTSW	14	67,996,563 (GRCm39)	missense	probably damaging	0.99
R9345:Dock5	UTSW	14	68,060,071 (GRCm39)	missense	possibly damaging	0.74
R9679:Dock5	UTSW	14	68,018,450 (GRCm39)	missense	probably damaging	1.00
X0023:Dock5	UTSW	14	68,008,537 (GRCm39)	missense	probably benign	0.15
Z1177:Dock5	UTSW	14	68,051,382 (GRCm39)	missense	possibly damaging	0.90

Predicted Primers

PCR Primer
(F):5'- GTGGTGGTCCTCATGAAGAG -3'
(R):5'- GATTTCATGAGACCGACAGGG -3'

Sequencing Primer
(F):5'- TCATGAAGAGATGTGGAGGAGCC -3'
(R):5'- ATTGCAGGCTGCTAACCTGAG -3'

Posted On

2016-07-22