Mutagenetix > Incidental Mutation

Incidental Mutation 'R8076:Dock5'

643830

Institutional Source

Beutler Lab

Gene Symbol

Dock5

Ensembl Gene

ENSMUSG00000044447

Gene Name

dedicator of cytokinesis 5

Synonyms

lr2, 1110060D06Rik, rlc

MMRRC Submission

067510-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.301) question?

Stock #

R8076 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

67752135-67933442 bp(-) (GRCm38)

Type of Mutation

splice site (6 bp from exon)

DNA Base Change (assembly)

A to T at 67802977 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: 99.9%
3x: 99.7%
10x: 98.8%
20x: 95.1%

Validation Efficiency

98% (62/63)

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932415D10Rik	A	C	10: 82,296,686 (GRCm38)	Y163*	probably null	Het
5330417C22Rik	G	T	3: 108,492,082 (GRCm38)	T64K	probably benign	Het
Adam9	T	A	8: 24,962,922 (GRCm38)	R790*	probably null	Het
Adamts13	C	A	2: 26,990,612 (GRCm38)	P736T	probably benign	Het
Aldh3b2	T	A	19: 3,978,859 (GRCm38)	F176L	possibly damaging	Het
Aldoart2	A	G	12: 55,565,911 (GRCm38)	E207G	probably benign	Het
Arid4b	A	T	13: 14,186,950 (GRCm38)	E753D	probably benign	Het
Cd160	T	A	3: 96,802,346 (GRCm38)	T158S	probably benign	Het
Cd209g	T	A	8: 4,135,195 (GRCm38)	M1K	probably null	Het
Chrm4	A	G	2: 91,927,859 (GRCm38)	Y204C	probably damaging	Het
Cyld	T	A	8: 88,729,718 (GRCm38)	N465K	probably benign	Het
Dchs1	A	T	7: 105,755,921 (GRCm38)	H2471Q	possibly damaging	Het
Dchs1	A	G	7: 105,761,982 (GRCm38)	V1612A	probably damaging	Het
Ddx24	A	G	12: 103,416,218 (GRCm38)	V702A	probably damaging	Het
Dnah8	A	G	17: 30,784,153 (GRCm38)	T3609A	possibly damaging	Het
Dpy19l2	C	T	9: 24,680,692 (GRCm38)	R205H	probably damaging	Het
Eif3a	A	T	19: 60,773,925 (GRCm38)	D473E	probably damaging	Het
Elobl	T	C	11: 88,964,970 (GRCm38)	E89G	possibly damaging	Het
Fam186a	A	T	15: 99,943,470 (GRCm38)	I1631N	possibly damaging	Het
Fbn2	C	T	18: 58,026,424 (GRCm38)	W2411*	probably null	Het
Fbxl17	A	G	17: 63,060,365 (GRCm38)	I671T	probably damaging	Het
Glul	C	T	1: 153,907,122 (GRCm38)	T193I	possibly damaging	Het
Grm7	A	G	6: 111,566,039 (GRCm38)	Y907C	probably damaging	Het
Hist4h4	A	G	6: 136,804,126 (GRCm38)	M85T	probably benign	Het
Hr	A	G	14: 70,557,941 (GRCm38)	T309A	probably benign	Het
Ighg3	A	G	12: 113,360,538 (GRCm38)	S110P	probably benign	Het
Llgl2	A	G	11: 115,846,929 (GRCm38)	E180G	possibly damaging	Het
Mat2b	A	T	11: 40,685,265 (GRCm38)	L112Q	probably damaging	Het
Mcoln2	T	C	3: 146,190,414 (GRCm38)	M497T	probably damaging	Het
Mmp24	C	A	2: 155,807,561 (GRCm38)	Y299*	probably null	Het
Mtor	T	C	4: 148,525,803 (GRCm38)		probably null	Het
Olfr1123	A	T	2: 87,418,545 (GRCm38)	I164L	probably benign	Het
Olig2	C	A	16: 91,226,411 (GRCm38)	D4E	probably damaging	Het
Pard3	T	C	8: 127,415,596 (GRCm38)	S878P	probably damaging	Het
Pcgf5	C	T	19: 36,440,083 (GRCm38)	P137L	probably damaging	Het
Pck1	A	G	2: 173,155,278 (GRCm38)	N238D	probably damaging	Het
Pstpip1	T	C	9: 56,127,780 (GRCm38)	S346P	probably benign	Het
Qsox2	G	A	2: 26,224,885 (GRCm38)	H40Y	possibly damaging	Het
Rbpj	T	C	5: 53,642,137 (GRCm38)	I129T	probably damaging	Het
Rsf1	ATGGCG	ATGGCGACGGTGGCG	7: 97,579,904 (GRCm38)		probably benign	Het
Saal1	G	A	7: 46,710,607 (GRCm38)	P9L	probably benign	Het
Sema3c	A	G	5: 17,727,364 (GRCm38)	I622V	probably benign	Het
Sigirr	C	T	7: 141,091,872 (GRCm38)	V333M	probably benign	Het
Sort1	T	C	3: 108,338,867 (GRCm38)	S387P	probably damaging	Het
Spta1	T	A	1: 174,187,231 (GRCm38)	S426T	probably benign	Het
Stag3	G	A	5: 138,283,142 (GRCm38)	S124N	probably damaging	Het
Stard10	A	G	7: 101,343,969 (GRCm38)	Y244C	probably damaging	Het
Tcea3	T	A	4: 136,268,129 (GRCm38)	I261N	probably damaging	Het
Tdrd1	A	G	19: 56,843,835 (GRCm38)	K395E	probably damaging	Het
Tenm2	T	A	11: 36,027,221 (GRCm38)	D1905V	probably benign	Het
Trim12c	T	C	7: 104,340,830 (GRCm38)	Y480C	unknown	Het
Trip11	A	G	12: 101,883,482 (GRCm38)	V1441A	probably damaging	Het
Ttc21a	G	A	9: 119,966,326 (GRCm38)	R1107Q	probably benign	Het
Wdr41	A	G	13: 95,017,330 (GRCm38)	I296V	probably benign	Het
Zdbf2	T	A	1: 63,306,101 (GRCm38)	V1213E	possibly damaging	Het
Zfp37	T	C	4: 62,191,316 (GRCm38)	N545D	possibly damaging	Het

Other mutations in Dock5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00504:Dock5	APN	14	67,786,889 (GRCm38)	splice site	probably benign
IGL00930:Dock5	APN	14	67,771,077 (GRCm38)	missense	probably damaging	1.00
IGL01525:Dock5	APN	14	67,805,720 (GRCm38)	splice site	probably benign
IGL01759:Dock5	APN	14	67,881,259 (GRCm38)	nonsense	probably null
IGL01941:Dock5	APN	14	67,812,232 (GRCm38)	missense	probably damaging	1.00
IGL02025:Dock5	APN	14	67,763,287 (GRCm38)	missense	probably damaging	1.00
IGL02093:Dock5	APN	14	67,839,543 (GRCm38)	splice site	probably benign
IGL02179:Dock5	APN	14	67,806,496 (GRCm38)	splice site	probably benign
IGL02208:Dock5	APN	14	67,828,450 (GRCm38)	missense	probably benign	0.06
IGL02605:Dock5	APN	14	67,828,438 (GRCm38)	missense	probably benign	0.18
IGL02608:Dock5	APN	14	67,828,439 (GRCm38)	missense	probably benign	0.01
IGL02938:Dock5	APN	14	67,757,218 (GRCm38)	splice site	probably benign
IGL02971:Dock5	APN	14	67,757,109 (GRCm38)	missense	probably null	1.00
IGL02983:Dock5	APN	14	67,764,670 (GRCm38)	missense	probably damaging	1.00
IGL03151:Dock5	APN	14	67,866,067 (GRCm38)	missense	probably damaging	1.00
IGL03410:Dock5	APN	14	67,846,086 (GRCm38)	missense	probably benign	0.04
PIT4366001:Dock5	UTSW	14	67,824,674 (GRCm38)	missense	possibly damaging	0.83
R0026:Dock5	UTSW	14	67,846,081 (GRCm38)	missense	probably benign	0.00
R0058:Dock5	UTSW	14	67,781,036 (GRCm38)	missense	probably benign	0.00
R0058:Dock5	UTSW	14	67,781,036 (GRCm38)	missense	probably benign	0.00
R0112:Dock5	UTSW	14	67,819,641 (GRCm38)	missense	probably benign
R0127:Dock5	UTSW	14	67,846,042 (GRCm38)	missense	probably benign	0.13
R0144:Dock5	UTSW	14	67,786,286 (GRCm38)	missense	probably benign	0.18
R0312:Dock5	UTSW	14	67,795,991 (GRCm38)	missense	possibly damaging	0.82
R0360:Dock5	UTSW	14	67,822,680 (GRCm38)	splice site	probably benign
R0364:Dock5	UTSW	14	67,822,680 (GRCm38)	splice site	probably benign
R0496:Dock5	UTSW	14	67,817,518 (GRCm38)	missense	probably damaging	1.00
R0506:Dock5	UTSW	14	67,784,792 (GRCm38)	splice site	probably benign
R0586:Dock5	UTSW	14	67,809,032 (GRCm38)	missense	probably damaging	1.00
R0597:Dock5	UTSW	14	67,784,934 (GRCm38)	splice site	probably null
R0625:Dock5	UTSW	14	67,841,163 (GRCm38)	missense	probably benign
R1109:Dock5	UTSW	14	67,806,478 (GRCm38)	missense	possibly damaging	0.80
R1221:Dock5	UTSW	14	67,759,161 (GRCm38)	missense	probably benign	0.00
R1278:Dock5	UTSW	14	67,839,566 (GRCm38)	missense	possibly damaging	0.80
R1927:Dock5	UTSW	14	67,846,062 (GRCm38)	missense	possibly damaging	0.60
R1944:Dock5	UTSW	14	67,757,135 (GRCm38)	nonsense	probably null
R1946:Dock5	UTSW	14	67,786,316 (GRCm38)	missense	probably damaging	1.00
R2046:Dock5	UTSW	14	67,812,142 (GRCm38)	missense	probably benign
R2101:Dock5	UTSW	14	67,794,010 (GRCm38)	missense	probably benign	0.02
R2252:Dock5	UTSW	14	67,784,812 (GRCm38)	missense	probably damaging	0.98
R2882:Dock5	UTSW	14	67,839,620 (GRCm38)	missense	probably damaging	0.99
R3110:Dock5	UTSW	14	67,857,922 (GRCm38)	missense	possibly damaging	0.72
R3112:Dock5	UTSW	14	67,857,922 (GRCm38)	missense	possibly damaging	0.72
R4236:Dock5	UTSW	14	67,756,492 (GRCm38)	missense	probably benign	0.02
R4242:Dock5	UTSW	14	67,828,490 (GRCm38)	missense	probably benign	0.19
R4244:Dock5	UTSW	14	67,774,582 (GRCm38)	missense	probably benign	0.41
R4646:Dock5	UTSW	14	67,842,779 (GRCm38)	missense	probably benign	0.01
R4793:Dock5	UTSW	14	67,800,354 (GRCm38)	missense	probably benign	0.26
R4841:Dock5	UTSW	14	67,817,563 (GRCm38)	missense	probably damaging	0.98
R4842:Dock5	UTSW	14	67,817,563 (GRCm38)	missense	probably damaging	0.98
R5159:Dock5	UTSW	14	67,792,289 (GRCm38)	missense	probably benign	0.04
R5164:Dock5	UTSW	14	67,817,661 (GRCm38)	nonsense	probably null
R5206:Dock5	UTSW	14	67,763,184 (GRCm38)	missense	probably benign	0.35
R5207:Dock5	UTSW	14	67,776,284 (GRCm38)	missense	probably benign	0.06
R5322:Dock5	UTSW	14	67,770,266 (GRCm38)	missense	probably benign	0.41
R5374:Dock5	UTSW	14	67,805,756 (GRCm38)	missense	possibly damaging	0.81
R5413:Dock5	UTSW	14	67,764,655 (GRCm38)	missense	probably damaging	1.00
R5476:Dock5	UTSW	14	67,814,007 (GRCm38)	missense	possibly damaging	0.92
R5504:Dock5	UTSW	14	67,803,086 (GRCm38)	missense	probably benign	0.01
R5677:Dock5	UTSW	14	67,777,603 (GRCm38)	missense	probably benign	0.00
R5773:Dock5	UTSW	14	67,796,058 (GRCm38)	missense	possibly damaging	0.95
R5845:Dock5	UTSW	14	67,841,101 (GRCm38)	missense	possibly damaging	0.82
R5957:Dock5	UTSW	14	67,857,994 (GRCm38)	missense	probably benign
R6154:Dock5	UTSW	14	67,859,912 (GRCm38)	missense	probably benign	0.03
R6268:Dock5	UTSW	14	67,790,275 (GRCm38)	nonsense	probably null
R6393:Dock5	UTSW	14	67,822,602 (GRCm38)	missense	probably benign	0.32
R6512:Dock5	UTSW	14	67,824,648 (GRCm38)	missense	possibly damaging	0.93
R6759:Dock5	UTSW	14	67,795,996 (GRCm38)	missense	probably benign	0.00
R7012:Dock5	UTSW	14	67,822,586 (GRCm38)	missense	probably damaging	1.00
R7061:Dock5	UTSW	14	67,770,254 (GRCm38)	missense	probably damaging	0.96
R7196:Dock5	UTSW	14	67,756,470 (GRCm38)	missense	probably damaging	1.00
R7200:Dock5	UTSW	14	67,771,702 (GRCm38)	nonsense	probably null
R7311:Dock5	UTSW	14	67,828,502 (GRCm38)	missense	probably benign	0.25
R7359:Dock5	UTSW	14	67,765,888 (GRCm38)	missense	probably benign	0.10
R7422:Dock5	UTSW	14	67,809,030 (GRCm38)	missense	probably benign	0.01
R7588:Dock5	UTSW	14	67,763,158 (GRCm38)	critical splice donor site	probably null
R7637:Dock5	UTSW	14	67,786,340 (GRCm38)	missense	possibly damaging	0.95
R7709:Dock5	UTSW	14	67,796,005 (GRCm38)	missense	probably benign	0.44
R7763:Dock5	UTSW	14	67,821,327 (GRCm38)	missense	probably damaging	0.97
R8044:Dock5	UTSW	14	67,824,692 (GRCm38)	missense	probably damaging	1.00
R8168:Dock5	UTSW	14	67,770,197 (GRCm38)	splice site	probably null
R8353:Dock5	UTSW	14	67,817,508 (GRCm38)	splice site	probably null
R8480:Dock5	UTSW	14	67,836,410 (GRCm38)	missense	probably benign	0.32
R8535:Dock5	UTSW	14	67,793,976 (GRCm38)	missense	probably benign	0.19
R8708:Dock5	UTSW	14	67,767,371 (GRCm38)	missense	probably benign	0.02
R8732:Dock5	UTSW	14	67,846,000 (GRCm38)	missense	possibly damaging	0.85
R8888:Dock5	UTSW	14	67,817,663 (GRCm38)	missense	possibly damaging	0.95
R8895:Dock5	UTSW	14	67,817,663 (GRCm38)	missense	possibly damaging	0.95
R8936:Dock5	UTSW	14	67,845,990 (GRCm38)	nonsense	probably null
R8962:Dock5	UTSW	14	67,757,191 (GRCm38)	missense	probably benign
R8972:Dock5	UTSW	14	67,776,300 (GRCm38)	missense	probably damaging	1.00
R9244:Dock5	UTSW	14	67,759,114 (GRCm38)	missense	probably damaging	0.99
R9345:Dock5	UTSW	14	67,822,622 (GRCm38)	missense	possibly damaging	0.74
R9679:Dock5	UTSW	14	67,781,001 (GRCm38)	missense	probably damaging	1.00
X0023:Dock5	UTSW	14	67,771,088 (GRCm38)	missense	probably benign	0.15
Z1177:Dock5	UTSW	14	67,813,933 (GRCm38)	missense	possibly damaging	0.90

Predicted Primers

PCR Primer
(F):5'- ATTCGGGCCCTCACACTAAG -3'
(R):5'- CTGCAGAGTGTTTAGAGCAAGTG -3'

Sequencing Primer
(F):5'- GGCCCTCACACTAAGCCATTTG -3'
(R):5'- CAGGTAGCCATGTGTGAGC -3'

Posted On

2020-08-27