Mutagenetix > Incidental Mutation

Incidental Mutation 'R6759:Dock5'

531161

Institutional Source

Beutler Lab

Gene Symbol

Dock5

Ensembl Gene

ENSMUSG00000044447

Gene Name

dedicator of cytokinesis 5

Synonyms

lr2, 1110060D06Rik, rlc

MMRRC Submission

044875-MU

Accession Numbers

Essential gene?

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

Stock #

R6759 (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 67795996 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 975 (T975S)

Ref Sequence

ENSEMBL: ENSMUSP00000036674 (fasta)

Gene Model

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

AlphaFold

B2RY04

Predicted Effect

probably benign
Transcript: ENSMUST00000039135
AA Change: T975S

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000036674
Gene: ENSMUSG00000044447
AA Change: T975S

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: 98.5%
20x: 95.9%

Validation Efficiency

98% (49/50)

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: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2900026A02Rik	T	C	5: 113,183,826 (GRCm38)	S841G	probably benign	Het
4932438A13Rik	C	T	3: 36,988,085 (GRCm38)	T2740I	possibly damaging	Het
4933427I04Rik	G	T	4: 123,860,086 (GRCm38)		probably benign	Het
Aak1	A	G	6: 86,944,417 (GRCm38)	T199A	probably damaging	Het
Acnat2	C	A	4: 49,380,254 (GRCm38)	V375L	probably benign	Het
Aldh1a7	T	C	19: 20,699,956 (GRCm38)	T434A	possibly damaging	Het
Aldh3a2	T	C	11: 61,265,262 (GRCm38)	T63A	probably benign	Het
Anxa2	T	C	9: 69,483,821 (GRCm38)	S97P	probably damaging	Het
Apip	T	C	2: 103,091,846 (GRCm38)	S186P	probably benign	Het
Apob	A	G	12: 8,011,049 (GRCm38)	K3177R	probably benign	Het
Atm	C	T	9: 53,518,559 (GRCm38)	W392*	probably null	Het
Atp8b1	T	A	18: 64,546,090 (GRCm38)	R773S	probably benign	Het
Bicdl2	T	A	17: 23,666,744 (GRCm38)		probably null	Het
Cacng3	G	A	7: 122,762,324 (GRCm38)		probably null	Het
Clca3a1	G	T	3: 144,749,689 (GRCm38)	L448M	probably damaging	Het
Clk4	A	G	11: 51,275,574 (GRCm38)	I94M	possibly damaging	Het
Cnot3	G	T	7: 3,651,919 (GRCm38)	V124F	probably damaging	Het
Cyp4a30b	C	T	4: 115,461,374 (GRCm38)	A426V	probably benign	Het
Dact1	T	A	12: 71,318,137 (GRCm38)	L564*	probably null	Het
Dnah8	T	A	17: 30,663,292 (GRCm38)		probably null	Het
Dock8	C	A	19: 25,127,484 (GRCm38)	H739Q	probably damaging	Het
Efr3b	T	A	12: 3,984,613 (GRCm38)	N186Y	probably damaging	Het
Enam	G	A	5: 88,501,691 (GRCm38)	G278D	probably damaging	Het
Fgl2	A	G	5: 21,373,258 (GRCm38)	D181G	probably benign	Het
Gfra3	G	T	18: 34,695,873 (GRCm38)	S156*	probably null	Het
Jam3	G	C	9: 27,101,980 (GRCm38)	T98S	probably benign	Het
Ltbp2	A	T	12: 84,787,410 (GRCm38)	I1435N	probably damaging	Het
Man2a1	G	A	17: 64,625,388 (GRCm38)	A157T	probably benign	Het
Mcm3ap	T	A	10: 76,501,314 (GRCm38)	V1361E	probably benign	Het
Nobox	A	T	6: 43,307,604 (GRCm38)	L36Q	possibly damaging	Het
Olfr642	A	G	7: 104,050,127 (GRCm38)	S76P	probably damaging	Het
Olfr693	T	A	7: 106,677,893 (GRCm38)	M198L	probably benign	Het
Parp4	G	A	14: 56,620,490 (GRCm38)	V860I	probably benign	Het
Pim3	T	A	15: 88,863,093 (GRCm38)		probably null	Het
Ptpn13	A	T	5: 103,565,255 (GRCm38)	N1748I	possibly damaging	Het
Rad51ap2	A	G	12: 11,457,144 (GRCm38)	T356A	possibly damaging	Het
Ranbp2	C	T	10: 58,457,737 (GRCm38)	R310*	probably null	Het
Rassf5	C	T	1: 131,182,251 (GRCm38)	V190I	probably benign	Het
Rgl1	T	G	1: 152,533,530 (GRCm38)	Q481P	probably damaging	Het
Rrp1b	A	G	17: 32,057,089 (GRCm38)	T537A	probably benign	Het
Smok3c	T	A	5: 138,065,437 (GRCm38)	S395R	probably benign	Het
St3gal1	A	G	15: 67,111,346 (GRCm38)	V187A	possibly damaging	Het
Strn4	A	T	7: 16,823,053 (GRCm38)	E145V	probably damaging	Het
Tex21	T	A	12: 76,204,312 (GRCm38)		probably null	Het
Usp37	G	A	1: 74,495,749 (GRCm38)	R13*	probably null	Het
Uty	G	T	Y: 1,174,735 (GRCm38)	L222I	probably damaging	Homo
Wwp2	A	G	8: 107,540,682 (GRCm38)	T309A	probably damaging	Het
Zfp40	C	T	17: 23,176,536 (GRCm38)	R359H	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
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
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'- TGCTCAGGCAATGAAGCAGG -3'
(R):5'- TGTCCTTATAGATAGAGCTCGATGG -3'

Sequencing Primer
(F):5'- AGGATCATGACTTTGAGGATGAC -3'
(R):5'- TCGATGGGTAGAAAGCCCC -3'

Posted On

2018-08-01