Mutagenetix > Incidental Mutation

Incidental Mutation 'R8480:Dock5'

657493

Institutional Source

Beutler Lab

Gene Symbol

Dock5

Ensembl Gene

ENSMUSG00000044447

Gene Name

dedicator of cytokinesis 5

Synonyms

lr2, 1110060D06Rik, rlc

MMRRC Submission

067924-MU

Accession Numbers

Essential gene?

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

Stock #

R8480 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

67752135-67933442 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 67836410 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 294 (I294F)

Ref Sequence

ENSEMBL: ENSMUSP00000036674 (fasta)

Gene Model

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

AlphaFold

B2RY04

Predicted Effect

probably benign
Transcript: ENSMUST00000039135
AA Change: I294F

PolyPhen 2 Score 0.320 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000036674
Gene: ENSMUSG00000044447
AA Change: I294F

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

0.0846

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

98% (53/54)

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acvr1b	G	A	15: 101,210,839 (GRCm38)	V499M	possibly damaging	Het
Adam5	G	A	8: 24,804,459 (GRCm38)	Q375*	probably null	Het
Adgrf1	G	A	17: 43,295,164 (GRCm38)	E60K	probably benign	Het
Alb	T	C	5: 90,462,771 (GRCm38)	V70A	probably damaging	Het
Aph1b	T	A	9: 66,788,427 (GRCm38)		probably benign	Het
Aste1	A	T	9: 105,397,796 (GRCm38)	T351S	probably damaging	Het
Aste1	G	A	9: 105,396,990 (GRCm38)	R143Q	possibly damaging	Het
Bace2	T	A	16: 97,413,470 (GRCm38)	L286Q	probably damaging	Het
Bach1	G	A	16: 87,719,275 (GRCm38)	G235R	probably damaging	Het
Bpnt2	C	T	4: 4,769,376 (GRCm38)	M246I	probably benign	Het
Brwd1	A	T	16: 96,047,430 (GRCm38)	H516Q	probably damaging	Het
Cc2d2a	C	A	5: 43,685,144 (GRCm38)		probably null	Het
Cdh22	T	A	2: 165,146,726 (GRCm38)	E236D	probably benign	Het
Celsr1	G	T	15: 86,033,085 (GRCm38)	S229*	probably null	Het
Celsr2	T	A	3: 108,398,902 (GRCm38)	T2029S	probably benign	Het
Col11a1	A	G	3: 114,181,394 (GRCm38)	D1234G	probably benign	Het
Cplane1	C	A	15: 8,187,458 (GRCm38)	P720Q	possibly damaging	Het
Cpt2	A	G	4: 107,907,760 (GRCm38)	I269T	probably damaging	Het
Dcaf7	T	A	11: 106,054,793 (GRCm38)	S323T	probably benign	Het
Ddias	G	T	7: 92,859,400 (GRCm38)	Q436K	probably benign	Het
Dlec1	G	A	9: 119,143,267 (GRCm38)		probably null	Het
Fat2	A	T	11: 55,282,968 (GRCm38)	D2306E	possibly damaging	Het
Gm4787	T	A	12: 81,377,506 (GRCm38)	D626V	probably damaging	Het
Gm6563	A	G	19: 23,675,926 (GRCm38)	T27A	probably benign	Het
Hadhb	T	C	5: 30,168,570 (GRCm38)		probably null	Het
Hsph1	A	T	5: 149,627,564 (GRCm38)	W406R	probably null	Het
Ighv1-66	C	T	12: 115,593,382 (GRCm38)	G27R	possibly damaging	Het
Krt26	T	C	11: 99,337,600 (GRCm38)	E102G	probably damaging	Het
Krt34	T	A	11: 100,040,145 (GRCm38)		probably null	Het
Krt36	T	C	11: 100,102,809 (GRCm38)	D401G	possibly damaging	Het
Loxhd1	G	A	18: 77,431,131 (GRCm38)	G326S	probably damaging	Het
Lrrc8b	A	G	5: 105,485,936 (GRCm38)	N758S	probably damaging	Het
Mrtfb	A	T	16: 13,384,192 (GRCm38)		probably null	Het
Muc4	C	T	16: 32,752,993 (GRCm38)	T957I	probably benign	Het
Naip5	T	C	13: 100,222,235 (GRCm38)	Y831C	probably damaging	Het
Nfatc1	A	T	18: 80,635,644 (GRCm38)	V829E	probably benign	Het
Nmnat1	G	A	4: 149,473,370 (GRCm38)	L72F	possibly damaging	Het
Or4f14d	A	T	2: 112,129,985 (GRCm38)	D275E	possibly damaging	Het
Pcdh7	T	A	5: 58,129,065 (GRCm38)	V1161E	probably damaging	Het
Raver1	A	G	9: 21,090,280 (GRCm38)	Y86H	probably benign	Het
Recql4	G	T	15: 76,704,505 (GRCm38)	H1035Q	probably benign	Het
Sgsm1	A	T	5: 113,263,418 (GRCm38)	M814K	probably benign	Het
Sh3d19	T	G	3: 86,084,877 (GRCm38)	W71G	probably benign	Het
Sidt1	T	C	16: 44,245,166 (GRCm38)	Y759C	probably damaging	Het
Spg11	G	T	2: 122,113,079 (GRCm38)	D197E	probably damaging	Het
Sppl2b	TGTCACAGGT	TGT	10: 80,866,069 (GRCm38)		probably null	Het
Ssc5d	A	T	7: 4,936,329 (GRCm38)	D588V	probably damaging	Het
Supt20	C	A	3: 54,707,116 (GRCm38)	T181K	probably damaging	Het
Szt2	A	T	4: 118,386,818 (GRCm38)	S1363R	probably benign	Het
Tbcel	G	A	9: 42,463,873 (GRCm38)		probably null	Het
Ube2e3	T	C	2: 78,918,814 (GRCm38)	L169P	probably damaging	Het
Wrn	A	G	8: 33,288,768 (GRCm38)	F595S	probably benign	Het
Zfp473	G	T	7: 44,732,899 (GRCm38)	P670Q	probably damaging	Het
Zw10	C	T	9: 49,074,999 (GRCm38)	A660V	probably benign	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
R8076:Dock5	UTSW	14	67,802,977 (GRCm38)	splice site	probably null
R8168:Dock5	UTSW	14	67,770,197 (GRCm38)	splice site	probably null
R8353:Dock5	UTSW	14	67,817,508 (GRCm38)	splice site	probably null
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'- GCCAGTCAGCCACCTTCT -3'
(R):5'- CCAGGGAAGAAAAGAAGACTGTTTTAT -3'

Sequencing Primer
(F):5'- GGCGTGAGTCAGAAATTCCTTCC -3'
(R):5'- CTCTGTAATTCTTAGATGGGC -3'

Posted On

2021-01-18