Mutagenetix > Incidental Mutation

Incidental Mutation 'R5159:Dock5'

396898

Institutional Source

Beutler Lab

Gene Symbol

Dock5

Ensembl Gene

ENSMUSG00000044447

Gene Name

dedicator of cytokinesis 5

Synonyms

1110060D06Rik, rlc, lr2

MMRRC Submission

042741-MU

Accession Numbers

Essential gene?

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

Stock #

R5159 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

67989584-68170891 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 68029738 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Cysteine at position 1019 (R1019C)

Ref Sequence

ENSEMBL: ENSMUSP00000036674 (fasta)

Gene Model

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

AlphaFold

B2RY04

Predicted Effect

probably benign
Transcript: ENSMUST00000039135
AA Change: R1019C

PolyPhen 2 Score 0.042 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000036674
Gene: ENSMUSG00000044447
AA Change: R1019C

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

Meta Mutation Damage Score

0.3851

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.7%

Validation Efficiency

100% (63/63)

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9930111J21Rik1	T	C	11: 48,839,352 (GRCm39)	T412A	probably benign	Het
Aldh5a1	T	A	13: 25,097,776 (GRCm39)	M420L	possibly damaging	Het
Armc2	A	G	10: 41,884,711 (GRCm39)	S77P	probably damaging	Het
Avil	A	G	10: 126,856,317 (GRCm39)		probably null	Het
Bltp3a	A	G	17: 28,100,530 (GRCm39)	H323R	probably damaging	Het
Bmp5	T	A	9: 75,801,035 (GRCm39)	F388L	probably damaging	Het
Brca2	T	G	5: 150,465,573 (GRCm39)	V1779G	possibly damaging	Het
Cblb	T	A	16: 51,932,483 (GRCm39)	S147T	probably damaging	Het
Cblc	T	C	7: 19,519,233 (GRCm39)	E409G	probably benign	Het
Cdc34b	C	T	11: 94,632,886 (GRCm39)	R29W	probably damaging	Het
Clic6	T	A	16: 92,324,954 (GRCm39)	Y371N	probably benign	Het
Col5a2	A	G	1: 45,425,991 (GRCm39)		probably null	Het
Coro1a	A	T	7: 126,302,221 (GRCm39)	V42D	probably damaging	Het
Cpa3	C	T	3: 20,281,387 (GRCm39)	C173Y	probably damaging	Het
Crb1	A	C	1: 139,170,756 (GRCm39)	V817G	probably damaging	Het
Cyp2c39	A	G	19: 39,549,378 (GRCm39)	T299A	possibly damaging	Het
Exoc8	T	C	8: 125,622,952 (GRCm39)	T472A	probably benign	Het
Fancc	A	G	13: 63,469,679 (GRCm39)		probably null	Het
Fcgbpl1	T	A	7: 27,852,733 (GRCm39)	M1340K	probably benign	Het
Inpp5d	T	C	1: 87,604,064 (GRCm39)	L244P	probably damaging	Het
Ireb2	A	G	9: 54,799,831 (GRCm39)	N424S	probably benign	Het
Krt35	T	C	11: 99,984,875 (GRCm39)	D261G	probably damaging	Het
Lipc	T	A	9: 70,720,192 (GRCm39)	I272L	probably benign	Het
Lpcat3	A	G	6: 124,676,357 (GRCm39)		probably benign	Het
Lzts1	T	C	8: 69,591,236 (GRCm39)	D304G	probably benign	Het
Mdn1	A	G	4: 32,774,008 (GRCm39)	I5540V	possibly damaging	Het
Msln	T	C	17: 25,970,563 (GRCm39)	S231G	probably benign	Het
Mup8	G	A	4: 60,221,062 (GRCm39)	T101M	probably benign	Het
Myh8	T	C	11: 67,179,179 (GRCm39)	I524T	probably damaging	Het
Pappa2	A	G	1: 158,589,189 (GRCm39)	C1679R	probably damaging	Het
Pcdhb1	T	C	18: 37,399,416 (GRCm39)	S456P	possibly damaging	Het
Pcdhga5	A	G	18: 37,828,719 (GRCm39)	N389S	probably benign	Het
Pitrm1	C	A	13: 6,617,507 (GRCm39)	S620R	probably benign	Het
Plod3	T	A	5: 137,023,932 (GRCm39)		probably benign	Het
Por	A	T	5: 135,759,771 (GRCm39)	Q194L	probably benign	Het
Prkag3	A	T	1: 74,780,646 (GRCm39)	Y396N	probably damaging	Het
R3hcc1	T	C	14: 69,935,053 (GRCm39)		probably null	Het
Rcan3	C	T	4: 135,152,592 (GRCm39)	S43N	probably damaging	Het
Rhot1	A	G	11: 80,111,098 (GRCm39)	T31A	probably damaging	Het
Rnps1	T	G	17: 24,637,486 (GRCm39)	S43A	unknown	Het
Rp1	T	C	1: 4,416,426 (GRCm39)	D1562G	possibly damaging	Het
Rps19-ps13	A	G	18: 40,859,428 (GRCm39)		noncoding transcript	Het
Serpina3c	A	T	12: 104,115,771 (GRCm39)	S258T	possibly damaging	Het
Smc2	G	A	4: 52,460,181 (GRCm39)	R519Q	possibly damaging	Het
Sorbs2	A	T	8: 46,248,767 (GRCm39)	T593S	probably benign	Het
Sptbn2	A	G	19: 4,787,885 (GRCm39)	T955A	probably benign	Het
Stfa3	T	C	16: 36,272,581 (GRCm39)	K40E	probably damaging	Het
Tmem87b	A	G	2: 128,666,378 (GRCm39)	E75G	probably benign	Het
Tmprss15	T	C	16: 78,800,298 (GRCm39)	Q595R	probably benign	Het
Trak1	A	T	9: 121,289,478 (GRCm39)	I597F	probably damaging	Het
Trat1	T	C	16: 48,555,300 (GRCm39)	D144G	probably damaging	Het
Trim25	T	C	11: 88,890,358 (GRCm39)	V15A	probably benign	Het
Tulp1	A	C	17: 28,578,034 (GRCm39)		probably null	Het
Txndc15	T	A	13: 55,865,734 (GRCm39)	M66K	probably benign	Het
Vmn1r206	T	A	13: 22,804,775 (GRCm39)	N144I	probably damaging	Het
Wwc2	T	C	8: 48,353,796 (GRCm39)	T113A	probably benign	Het
Xpo5	A	C	17: 46,528,535 (GRCm39)	E313D	probably damaging	Het
Zfp790	C	T	7: 29,529,192 (GRCm39)	H626Y	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
R5164:Dock5	UTSW	14	68,055,110 (GRCm39)	nonsense	probably null
R5206:Dock5	UTSW	14	68,000,633 (GRCm39)	missense	probably benign	0.35
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'- CCCTTCCGTGTTTGACAATG -3'
(R):5'- ATTCAAGTGTACACTGCCTGCC -3'

Sequencing Primer
(F):5'- GATAGGATCTGAAATGGCCCTTTCTC -3'
(R):5'- CTCTTCCAGACCTTGAGAGAAAGTG -3'

Posted On

2016-06-21