Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02179:Dock5'

283264

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Dock5

Ensembl Gene

ENSMUSG00000044447

Gene Name

dedicator of cytokinesis 5

Synonyms

1110060D06Rik, rlc, lr2

Accession Numbers

Essential gene?

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

Stock #

IGL02179

Quality Score

Status

Chromosome

Chromosomal Location

67989584-68170891 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

G to A at 68043945 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000036674 (fasta)

Gene Model

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

AlphaFold

B2RY04

Predicted Effect

probably benign
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

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: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abl1	C	A	2: 31,682,261 (GRCm39)	A385D	probably damaging	Het
Ace	A	G	11: 105,860,615 (GRCm39)	D174G	probably benign	Het
Aldh1l2	A	G	10: 83,358,701 (GRCm39)	V98A	probably benign	Het
AU040320	T	A	4: 126,729,405 (GRCm39)	F522L	probably benign	Het
Ccdc73	A	G	2: 104,737,913 (GRCm39)	D3G	probably damaging	Het
Cdk14	A	C	5: 5,153,845 (GRCm39)	L199V	probably damaging	Het
Cdk15	G	T	1: 59,370,100 (GRCm39)	A381S	possibly damaging	Het
Cyb5a	A	G	18: 84,891,280 (GRCm39)	I68V	probably benign	Het
Fbxw24	T	A	9: 109,438,973 (GRCm39)	K201*	probably null	Het
Gm5852	C	T	3: 93,635,023 (GRCm39)		noncoding transcript	Het
Gsdma3	A	G	11: 98,526,097 (GRCm39)	K274E	possibly damaging	Het
Hoxa7	T	A	6: 52,192,854 (GRCm39)	Q178L	probably damaging	Het
Itgae	G	T	11: 73,024,844 (GRCm39)	V992L	probably benign	Het
Klk1b26	A	G	7: 43,665,736 (GRCm39)	N183D	probably benign	Het
Krt39	A	T	11: 99,411,667 (GRCm39)	S140T	probably damaging	Het
Lama2	G	A	10: 26,946,360 (GRCm39)	T1953I	probably benign	Het
Mmp1a	G	A	9: 7,464,273 (GRCm39)	R26Q	probably benign	Het
Myh7b	A	C	2: 155,456,411 (GRCm39)	I175L	probably benign	Het
Nol11	A	G	11: 107,080,082 (GRCm39)	M1T	probably null	Het
Nrxn1	T	A	17: 90,937,511 (GRCm39)	I641F	probably damaging	Het
Or51ag1	A	C	7: 103,155,934 (GRCm39)	L73R	probably damaging	Het
Or8k3	A	T	2: 86,058,591 (GRCm39)	C241*	probably null	Het
Or9i2	T	C	19: 13,815,851 (GRCm39)	T229A	probably benign	Het
Parn	G	T	16: 13,485,456 (GRCm39)	H13Q	probably benign	Het
Pcnx1	T	C	12: 81,980,493 (GRCm39)		probably benign	Het
Pdcd10	T	C	3: 75,434,922 (GRCm39)	D60G	probably damaging	Het
Phka2	G	A	X: 159,337,376 (GRCm39)		probably null	Het
Ppargc1a	A	T	5: 51,631,053 (GRCm39)	D525E	possibly damaging	Het
Rad54l2	C	A	9: 106,597,589 (GRCm39)	R139L	probably damaging	Het
Rnf20	T	C	4: 49,638,712 (GRCm39)	V178A	probably benign	Het
Ror2	C	T	13: 53,264,764 (GRCm39)	S764N	probably damaging	Het
Sdccag8	C	T	1: 176,705,622 (GRCm39)	H479Y	probably benign	Het
Taf8	T	C	17: 47,813,158 (GRCm39)	T13A	probably benign	Het
Ttc8	T	C	12: 98,930,796 (GRCm39)	L270P	possibly damaging	Het
Ttn	G	A	2: 76,717,712 (GRCm39)	Q365*	probably null	Het
Uchl1	A	G	5: 66,833,637 (GRCm39)	Q2R	probably benign	Het
Ufl1	A	G	4: 25,254,896 (GRCm39)	V440A	probably damaging	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
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
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

Posted On

2015-04-16