Mutagenetix > Incidental Mutation

Incidental Mutation 'R8972:Dock5'

683199

Institutional Source

Beutler Lab

Gene Symbol

Dock5

Ensembl Gene

ENSMUSG00000044447

Gene Name

dedicator of cytokinesis 5

Synonyms

lr2, 1110060D06Rik, rlc

MMRRC Submission

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.371) question?

Stock #

R8972 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

67752135-67933442 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 67776300 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Phenylalanine at position 1324 (L1324F)

Ref Sequence

ENSEMBL: ENSMUSP00000036674 (fasta)

Gene Model

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

AlphaFold

B2RY04

Predicted Effect

probably damaging
Transcript: ENSMUST00000039135
AA Change: L1324F

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

SMART Domains

Protein: ENSMUSP00000036674
Gene: ENSMUSG00000044447
AA Change: L1324F

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: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

99% (70/71)

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: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	C	T	11: 9,328,138	S3106F	probably damaging	Het
Acss1	G	T	2: 150,642,889	R145S	probably damaging	Het
Acss3	T	C	10: 107,084,922	Y109C	probably damaging	Het
Adgre4	G	T	17: 55,802,189	G399C	probably damaging	Het
Alpk1	A	G	3: 127,679,583	S924P	probably damaging	Het
Anapc4	T	A	5: 52,850,542	D382E	possibly damaging	Het
Arfgef2	C	T	2: 166,867,333	A1110V	possibly damaging	Het
Arhgap20	T	C	9: 51,849,011	F721L	probably benign	Het
Arhgef39	T	C	4: 43,497,185	S269G	probably benign	Het
Asap2	C	T	12: 21,229,248	T377M	probably damaging	Het
Baiap3	G	T	17: 25,247,036	A558E	probably benign	Het
Birc6	A	C	17: 74,702,318	T4862P	probably benign	Het
Cc2d2a	A	G	5: 43,710,542	T843A	probably benign	Het
Ccdc187	A	T	2: 26,281,067	D466E	probably benign	Het
Ccdc88a	T	G	11: 29,485,888	N1270K	probably benign	Het
Cep250	C	T	2: 155,970,122	A446V	unknown	Het
Cntn1	T	G	15: 92,252,397	Y371D	probably benign	Het
Cpsf1	T	C	15: 76,597,328	D1141G	probably damaging	Het
Crebbp	C	T	16: 4,108,071	V1193I	probably benign	Het
Csf2ra	A	T	19: 61,225,159	S371T	probably null	Het
Csf2rb2	T	C	15: 78,287,915	N432D	probably benign	Het
Cul9	A	T	17: 46,543,251	L175Q	probably damaging	Het
D10Jhu81e	T	C	10: 78,167,489	I110V	possibly damaging	Het
Dlc1	T	A	8: 36,938,240	R132*	probably null	Het
Dopey1	T	C	9: 86,521,247	V36A	possibly damaging	Het
Fap	A	G	2: 62,548,583	V158A	probably benign	Het
G2e3	T	A	12: 51,363,494	S319T	possibly damaging	Het
Gphn	T	C	12: 78,609,239		probably null	Het
Gucy2g	A	G	19: 55,237,974	I170T	probably benign	Het
Hmgxb4	T	A	8: 75,021,838	W438R	probably damaging	Het
Igkv14-126	G	T	6: 67,896,345	G19V	probably damaging	Het
Kansl1l	C	T	1: 66,772,942	C506Y	probably damaging	Het
Kif2a	T	C	13: 106,979,035	T321A	probably damaging	Het
Krtap6-5	C	T	16: 89,047,719	R42H	unknown	Het
Map4	T	A	9: 110,035,117	M470K	probably benign	Het
Mill1	T	C	7: 18,263,057	V191A	probably benign	Het
Mki67	C	A	7: 135,695,635	A2557S	possibly damaging	Het
Mkln1	A	T	6: 31,496,746	H669L	probably damaging	Het
Mrgprb3	A	T	7: 48,643,674	V43E	possibly damaging	Het
Mucl2	T	A	15: 103,897,594		probably null	Het
Mybbp1a	T	A	11: 72,446,250	I604N	probably benign	Het
Myo18b	T	C	5: 112,693,298	T2210A	probably benign	Het
Nlrp4f	T	C	13: 65,182,935	I881M	probably benign	Het
Obscn	C	A	11: 59,052,616	A4236S	probably benign	Het
Olfr1200	A	C	2: 88,768,286	F10V	possibly damaging	Het
Olfr26	A	G	9: 38,855,958	K299E	probably damaging	Het
Olfr537-ps1	A	T	7: 140,539,125	M203L	unknown	Het
Olfr926	G	A	9: 38,877,854	R226H	probably benign	Het
Phc3	T	A	3: 30,961,777	Q83L	possibly damaging	Het
Pira2	T	C	7: 3,842,071	Y396C	probably damaging	Het
Prss3	T	A	6: 41,376,938	I24F	probably damaging	Het
Psg21	T	C	7: 18,647,368	N417D	probably benign	Het
Ros1	G	T	10: 52,123,237	R1206S	probably benign	Het
Smg9	A	T	7: 24,420,630	Q386L	probably benign	Het
Sncb	T	A	13: 54,759,959		probably null	Het
Son	AGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG	AGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG	16: 91,660,334		probably benign	Het
Sorl1	T	A	9: 42,046,552	I599F	probably damaging	Het
Sox6	C	A	7: 115,476,983	E807*	probably null	Het
Ssu2	G	A	6: 112,383,937	A53V	probably benign	Het
Tas2r123	T	C	6: 132,847,370	C77R	probably benign	Het
Tcta	T	C	9: 108,304,134	R117G	unknown	Het
Tiam1	G	A	16: 89,813,006	A1038V	probably damaging	Het
Tram2	A	T	1: 21,004,049		probably benign	Het
Tsku	C	A	7: 98,352,497	R209L	probably damaging	Het
Twnk	T	C	19: 45,011,710	F622L	probably damaging	Het
Ube2t	C	T	1: 134,971,932	T106I	probably damaging	Het
Usf1	C	T	1: 171,417,784	R255W	probably damaging	Het
Usp28	T	A	9: 49,037,824	L906Q	probably null	Het
Vmn2r31	T	A	7: 7,396,655	Y101F	probably benign	Het
Vmn2r42	A	G	7: 8,184,332	S814P	probably damaging	Het
Wnt2b	T	C	3: 104,951,159	R265G	possibly damaging	Het
Zfp62	T	G	11: 49,216,065	S328A	possibly damaging	Het
Zfp974	T	C	7: 27,911,164	I379V	probably benign	Het
Zmynd15	T	C	11: 70,464,239	V484A	possibly damaging	Het
Zzef1	T	C	11: 72,900,673	L2201P	probably damaging	Het

Other mutations in Dock5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00504:Dock5	APN	14	67786889	splice site	probably benign
IGL00930:Dock5	APN	14	67771077	missense	probably damaging	1.00
IGL01525:Dock5	APN	14	67805720	splice site	probably benign
IGL01759:Dock5	APN	14	67881259	nonsense	probably null
IGL01941:Dock5	APN	14	67812232	missense	probably damaging	1.00
IGL02025:Dock5	APN	14	67763287	missense	probably damaging	1.00
IGL02093:Dock5	APN	14	67839543	splice site	probably benign
IGL02179:Dock5	APN	14	67806496	splice site	probably benign
IGL02208:Dock5	APN	14	67828450	missense	probably benign	0.06
IGL02605:Dock5	APN	14	67828438	missense	probably benign	0.18
IGL02608:Dock5	APN	14	67828439	missense	probably benign	0.01
IGL02938:Dock5	APN	14	67757218	splice site	probably benign
IGL02971:Dock5	APN	14	67757109	missense	probably null	1.00
IGL02983:Dock5	APN	14	67764670	missense	probably damaging	1.00
IGL03151:Dock5	APN	14	67866067	missense	probably damaging	1.00
IGL03410:Dock5	APN	14	67846086	missense	probably benign	0.04
PIT4366001:Dock5	UTSW	14	67824674	missense	possibly damaging	0.83
R0026:Dock5	UTSW	14	67846081	missense	probably benign	0.00
R0058:Dock5	UTSW	14	67781036	missense	probably benign	0.00
R0058:Dock5	UTSW	14	67781036	missense	probably benign	0.00
R0112:Dock5	UTSW	14	67819641	missense	probably benign
R0127:Dock5	UTSW	14	67846042	missense	probably benign	0.13
R0144:Dock5	UTSW	14	67786286	missense	probably benign	0.18
R0312:Dock5	UTSW	14	67795991	missense	possibly damaging	0.82
R0360:Dock5	UTSW	14	67822680	splice site	probably benign
R0364:Dock5	UTSW	14	67822680	splice site	probably benign
R0496:Dock5	UTSW	14	67817518	missense	probably damaging	1.00
R0506:Dock5	UTSW	14	67784792	splice site	probably benign
R0586:Dock5	UTSW	14	67809032	missense	probably damaging	1.00
R0597:Dock5	UTSW	14	67784934	splice site	probably null
R0625:Dock5	UTSW	14	67841163	missense	probably benign
R1109:Dock5	UTSW	14	67806478	missense	possibly damaging	0.80
R1221:Dock5	UTSW	14	67759161	missense	probably benign	0.00
R1278:Dock5	UTSW	14	67839566	missense	possibly damaging	0.80
R1927:Dock5	UTSW	14	67846062	missense	possibly damaging	0.60
R1944:Dock5	UTSW	14	67757135	nonsense	probably null
R1946:Dock5	UTSW	14	67786316	missense	probably damaging	1.00
R2046:Dock5	UTSW	14	67812142	missense	probably benign
R2101:Dock5	UTSW	14	67794010	missense	probably benign	0.02
R2252:Dock5	UTSW	14	67784812	missense	probably damaging	0.98
R2882:Dock5	UTSW	14	67839620	missense	probably damaging	0.99
R3110:Dock5	UTSW	14	67857922	missense	possibly damaging	0.72
R3112:Dock5	UTSW	14	67857922	missense	possibly damaging	0.72
R4236:Dock5	UTSW	14	67756492	missense	probably benign	0.02
R4242:Dock5	UTSW	14	67828490	missense	probably benign	0.19
R4244:Dock5	UTSW	14	67774582	missense	probably benign	0.41
R4646:Dock5	UTSW	14	67842779	missense	probably benign	0.01
R4793:Dock5	UTSW	14	67800354	missense	probably benign	0.26
R4841:Dock5	UTSW	14	67817563	missense	probably damaging	0.98
R4842:Dock5	UTSW	14	67817563	missense	probably damaging	0.98
R5159:Dock5	UTSW	14	67792289	missense	probably benign	0.04
R5164:Dock5	UTSW	14	67817661	nonsense	probably null
R5206:Dock5	UTSW	14	67763184	missense	probably benign	0.35
R5207:Dock5	UTSW	14	67776284	missense	probably benign	0.06
R5322:Dock5	UTSW	14	67770266	missense	probably benign	0.41
R5374:Dock5	UTSW	14	67805756	missense	possibly damaging	0.81
R5413:Dock5	UTSW	14	67764655	missense	probably damaging	1.00
R5476:Dock5	UTSW	14	67814007	missense	possibly damaging	0.92
R5504:Dock5	UTSW	14	67803086	missense	probably benign	0.01
R5677:Dock5	UTSW	14	67777603	missense	probably benign	0.00
R5773:Dock5	UTSW	14	67796058	missense	possibly damaging	0.95
R5845:Dock5	UTSW	14	67841101	missense	possibly damaging	0.82
R5957:Dock5	UTSW	14	67857994	missense	probably benign
R6154:Dock5	UTSW	14	67859912	missense	probably benign	0.03
R6268:Dock5	UTSW	14	67790275	nonsense	probably null
R6393:Dock5	UTSW	14	67822602	missense	probably benign	0.32
R6512:Dock5	UTSW	14	67824648	missense	possibly damaging	0.93
R6759:Dock5	UTSW	14	67795996	missense	probably benign	0.00
R7012:Dock5	UTSW	14	67822586	missense	probably damaging	1.00
R7061:Dock5	UTSW	14	67770254	missense	probably damaging	0.96
R7196:Dock5	UTSW	14	67756470	missense	probably damaging	1.00
R7200:Dock5	UTSW	14	67771702	nonsense	probably null
R7311:Dock5	UTSW	14	67828502	missense	probably benign	0.25
R7359:Dock5	UTSW	14	67765888	missense	probably benign	0.10
R7422:Dock5	UTSW	14	67809030	missense	probably benign	0.01
R7588:Dock5	UTSW	14	67763158	critical splice donor site	probably null
R7637:Dock5	UTSW	14	67786340	missense	possibly damaging	0.95
R7709:Dock5	UTSW	14	67796005	missense	probably benign	0.44
R7763:Dock5	UTSW	14	67821327	missense	probably damaging	0.97
R8044:Dock5	UTSW	14	67824692	missense	probably damaging	1.00
R8076:Dock5	UTSW	14	67802977	splice site	probably null
R8168:Dock5	UTSW	14	67770197	splice site	probably null
R8353:Dock5	UTSW	14	67817508	splice site	probably null
R8480:Dock5	UTSW	14	67836410	missense	probably benign	0.32
R8535:Dock5	UTSW	14	67793976	missense	probably benign	0.19
R8708:Dock5	UTSW	14	67767371	missense	probably benign	0.02
R8732:Dock5	UTSW	14	67846000	missense	possibly damaging	0.85
R8888:Dock5	UTSW	14	67817663	missense	possibly damaging	0.95
R8895:Dock5	UTSW	14	67817663	missense	possibly damaging	0.95
R8936:Dock5	UTSW	14	67845990	nonsense	probably null
R8962:Dock5	UTSW	14	67757191	missense	probably benign
R9244:Dock5	UTSW	14	67759114	missense	probably damaging	0.99
R9345:Dock5	UTSW	14	67822622	missense	possibly damaging	0.74
R9679:Dock5	UTSW	14	67781001	missense	probably damaging	1.00
X0023:Dock5	UTSW	14	67771088	missense	probably benign	0.15
Z1177:Dock5	UTSW	14	67813933	missense	possibly damaging	0.90

Predicted Primers

PCR Primer
(F):5'- AACAATGGTCAAAGCTTTGGG -3'
(R):5'- ACAAGTCAGGGTCCCTTAAGG -3'

Sequencing Primer
(F):5'- GGTCAAAGCTTTGGGGATTATATATC -3'
(R):5'- CCCTTAAGGATGCTCAGCC -3'

Posted On

2021-10-11