Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00930:Dock5'

28952

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: 0.346) question?

Stock #

IGL00930

Quality Score

Status

Chromosome

Chromosomal Location

67989584-68170891 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 68008526 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 1457 (N1457K)

Ref Sequence

ENSEMBL: ENSMUSP00000036674 (fasta)

Gene Model

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

AlphaFold

B2RY04

Predicted Effect

probably damaging
Transcript: ENSMUST00000039135
AA Change: N1457K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000036674
Gene: ENSMUSG00000044447
AA Change: N1457K

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: 20 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsm2	T	C	7: 119,191,533 (GRCm39)	S534P	possibly damaging	Het
Adamts15	G	A	9: 30,813,349 (GRCm39)	P939S	probably damaging	Het
Alms1	T	C	6: 85,578,292 (GRCm39)	S207P	probably damaging	Het
Chd7	A	G	4: 8,805,181 (GRCm39)	K747E	probably damaging	Het
Donson	T	C	16: 91,479,479 (GRCm39)	E323G	possibly damaging	Het
Epc1	T	A	18: 6,449,196 (GRCm39)	M434L	probably benign	Het
Fcer1a	A	G	1: 173,050,100 (GRCm39)		probably benign	Het
Hemgn	A	T	4: 46,396,383 (GRCm39)	C284*	probably null	Het
Hnrnpm	C	A	17: 33,868,876 (GRCm39)	R517L	probably damaging	Het
Or7g34	A	G	9: 19,478,471 (GRCm39)	S67P	probably damaging	Het
Pcdh15	G	A	10: 74,466,530 (GRCm39)	E1450K	probably benign	Het
Pfpl	A	T	19: 12,407,009 (GRCm39)	H420L	probably benign	Het
Pitpnm2	A	G	5: 124,259,726 (GRCm39)		probably benign	Het
Pole2	A	G	12: 69,273,219 (GRCm39)		probably benign	Het
Prmt3	T	A	7: 49,441,757 (GRCm39)	Y245N	probably damaging	Het
Rpl10a	T	C	17: 28,547,981 (GRCm39)	Y41H	probably damaging	Het
Tpst1	A	T	5: 130,130,975 (GRCm39)	K148N	probably benign	Het
Vmn1r199	A	G	13: 22,567,029 (GRCm39)	T108A	possibly damaging	Het
Wdr7	T	A	18: 63,873,315 (GRCm39)	C525*	probably null	Het
Zfp646	A	G	7: 127,478,302 (GRCm39)	T160A	possibly 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
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
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

2013-04-17