Mutagenetix > Incidental Mutation

Incidental Mutation 'R7763:Dock5'

598071

Institutional Source

Beutler Lab

Gene Symbol

Dock5

Ensembl Gene

ENSMUSG00000044447

Gene Name

dedicator of cytokinesis 5

Synonyms

1110060D06Rik, rlc, lr2

MMRRC Submission

045819-MU

Accession Numbers

Essential gene?

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

Stock #

R7763 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

67989584-68170891 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 68058776 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 512 (T512A)

Ref Sequence

ENSEMBL: ENSMUSP00000036674 (fasta)

Gene Model

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

AlphaFold

B2RY04

Predicted Effect

probably damaging
Transcript: ENSMUST00000039135
AA Change: T512A

PolyPhen 2 Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000036674
Gene: ENSMUSG00000044447
AA Change: T512A

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: 99.0%

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: 111 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca16	T	A	7: 120,113,825 (GRCm39)	W899R	probably damaging	Het
Abca5	A	T	11: 110,163,323 (GRCm39)	W1631R	possibly damaging	Het
Actg2	T	A	6: 83,504,350 (GRCm39)	D25V	probably damaging	Het
Akap10	G	C	11: 61,806,331 (GRCm39)	D132E	probably damaging	Het
Angptl2	G	T	2: 33,132,394 (GRCm39)	E334*	probably null	Het
Aprt	T	C	8: 123,301,674 (GRCm39)	R165G	probably benign	Het
Bmp1	A	G	14: 70,729,524 (GRCm39)	F549S	probably damaging	Het
Capzb	C	T	4: 139,007,864 (GRCm39)	T215I	probably benign	Het
Car14	C	T	3: 95,811,684 (GRCm39)	M1I	probably null	Het
Ccdc148	T	A	2: 58,713,648 (GRCm39)	Q501L	probably benign	Het
Ccdc32	G	A	2: 118,857,828 (GRCm39)	T12I	probably damaging	Het
Ccnf	G	A	17: 24,443,986 (GRCm39)	S594L	probably damaging	Het
Cdadc1	C	T	14: 59,811,283 (GRCm39)	C409Y	probably damaging	Het
Cdh23	G	T	10: 60,148,356 (GRCm39)	S2670R	probably damaging	Het
Cdh8	T	A	8: 100,006,306 (GRCm39)	K94*	probably null	Het
Cdhr2	A	T	13: 54,865,505 (GRCm39)	Y193F	probably damaging	Het
Cdon	T	A	9: 35,365,711 (GRCm39)	Y153*	probably null	Het
Chd1	G	A	17: 15,953,303 (GRCm39)	G413R	probably damaging	Het
Cit	A	T	5: 116,125,060 (GRCm39)	T1582S	probably benign	Het
Clec4a3	T	C	6: 122,941,299 (GRCm39)	L98P	probably benign	Het
Cpa4	T	A	6: 30,583,644 (GRCm39)	D253E	probably damaging	Het
Cyp2c40	T	A	19: 39,795,612 (GRCm39)	N189I	possibly damaging	Het
Daam2	G	T	17: 49,797,050 (GRCm39)	A245E	probably benign	Het
Dennd5b	A	G	6: 148,970,156 (GRCm39)	F121S	probably damaging	Het
Dgkd	A	G	1: 87,854,671 (GRCm39)	T658A	probably benign	Het
Dmwd	T	A	7: 18,814,265 (GRCm39)	L305Q	probably damaging	Het
Dnah5	A	T	15: 28,314,001 (GRCm39)	Y1939F	probably damaging	Het
Dop1b	T	A	16: 93,552,402 (GRCm39)	D398E	probably benign	Het
Eef1akmt4	A	G	16: 20,437,279 (GRCm39)	H207R	probably damaging	Het
Egfr	T	C	11: 16,841,266 (GRCm39)	V719A	probably damaging	Het
Ep300	A	T	15: 81,470,784 (GRCm39)		probably benign	Het
Epha4	A	G	1: 77,366,668 (GRCm39)		probably null	Het
Erc2	T	G	14: 27,598,161 (GRCm39)		probably null	Het
Ergic1	A	T	17: 26,857,801 (GRCm39)	Y209F	possibly damaging	Het
Fbxw28	A	G	9: 109,155,701 (GRCm39)	I357T	probably damaging	Het
Flnb	A	T	14: 7,926,478 (GRCm38)	T1841S	probably benign	Het
Foxc1	G	A	13: 31,992,011 (GRCm39)	S274N	probably benign	Het
Fto	C	T	8: 92,136,071 (GRCm39)	T115M	probably damaging	Het
Gm10228	C	G	16: 88,838,187 (GRCm39)	C39S	unknown	Het
Gm7334	T	C	17: 51,005,743 (GRCm39)	F10L	possibly damaging	Het
Hfm1	A	G	5: 107,029,727 (GRCm39)	Y785H	probably damaging	Het
Hivep1	T	A	13: 42,312,937 (GRCm39)	S1726T	probably benign	Het
Htt	G	T	5: 35,009,534 (GRCm39)	C1505F	probably damaging	Het
Hydin	T	C	8: 111,232,475 (GRCm39)	S1665P	possibly damaging	Het
Ifi209	T	A	1: 173,470,445 (GRCm39)	N344K	probably damaging	Het
Ifnar2	T	C	16: 91,196,181 (GRCm39)	M262T	probably benign	Het
Ighv7-3	T	A	12: 114,116,827 (GRCm39)	S112C	probably damaging	Het
Igkv4-86	A	G	6: 68,887,563 (GRCm39)	S59P	probably benign	Het
Iglv1	A	G	16: 18,904,239 (GRCm39)		probably benign	Het
Ipo7	T	A	7: 109,652,006 (GRCm39)	D928E	possibly damaging	Het
Itgae	G	T	11: 73,014,095 (GRCm39)		probably null	Het
Kbtbd12	T	A	6: 88,595,179 (GRCm39)	Q217L	probably benign	Het
Kcnma1	T	A	14: 23,350,074 (GRCm39)	Y1155F	possibly damaging	Het
Kif14	A	G	1: 136,444,121 (GRCm39)	E1371G	probably benign	Het
Lilrb4a	A	T	10: 51,367,142 (GRCm39)	Y10F	probably benign	Het
Lrp2	A	T	2: 69,333,732 (GRCm39)	V1503E	probably damaging	Het
Mfsd6	A	T	1: 52,747,799 (GRCm39)	D355E	probably benign	Het
Mri1	T	C	8: 84,977,657 (GRCm39)	H226R		Het
Mroh4	C	T	15: 74,496,554 (GRCm39)	E278K	probably damaging	Het
Muc4	T	A	16: 32,574,739 (GRCm39)	L1063H	probably benign	Het
Mzf1	A	T	7: 12,778,018 (GRCm39)	I541N	probably damaging	Het
Nasp	T	A	4: 116,469,230 (GRCm39)	E116D	probably benign	Het
Nlrp10	T	A	7: 108,525,033 (GRCm39)	E149V	probably damaging	Het
Notch4	G	A	17: 34,801,392 (GRCm39)	C1080Y	probably damaging	Het
Nova1	T	G	12: 46,767,481 (GRCm39)	I147L	unknown	Het
Ogdh	A	G	11: 6,288,558 (GRCm39)	M223V	probably benign	Het
Or2a56	T	C	6: 42,932,723 (GRCm39)	I97T	probably benign	Het
Or2y1e	G	T	11: 49,218,498 (GRCm39)	A87S	probably benign	Het
Or4n4	A	T	14: 50,518,945 (GRCm39)	I255N	probably damaging	Het
Or6c66b	G	T	10: 129,377,324 (GRCm39)	R306L	probably benign	Het
P3h3	T	C	6: 124,831,395 (GRCm39)	Q330R	probably benign	Het
Pcdhb10	A	G	18: 37,544,935 (GRCm39)	T4A	not run	Het
Pkd2l2	A	T	18: 34,566,340 (GRCm39)		probably null	Het
Plekhb1	C	T	7: 100,294,870 (GRCm39)	V168I	probably benign	Het
Plxna4	C	T	6: 32,200,915 (GRCm39)	R753H	probably damaging	Het
Pramel17	T	C	4: 101,694,338 (GRCm39)	I182V	possibly damaging	Het
Prex1	G	C	2: 166,555,629 (GRCm39)	P4A	unknown	Het
Ptgdr	A	G	14: 45,096,535 (GRCm39)	V59A	probably damaging	Het
Ralgapa1	T	A	12: 55,804,740 (GRCm39)	I519F	probably benign	Het
Rbpms	A	G	8: 34,279,481 (GRCm39)	I170T	probably benign	Het
Sec31b	T	A	19: 44,512,274 (GRCm39)		probably null	Het
Skint11	A	T	4: 114,084,905 (GRCm39)	Y138F	probably benign	Het
Slain2	A	G	5: 73,105,953 (GRCm39)	Y196C	probably damaging	Het
Slco1b2	T	A	6: 141,621,950 (GRCm39)	C503*	probably null	Het
Slfn3	A	T	11: 83,105,614 (GRCm39)	Y537F	possibly damaging	Het
Slu7	T	C	11: 43,335,592 (GRCm39)	Y443H	probably damaging	Het
Sorl1	T	A	9: 41,955,205 (GRCm39)	E683D	probably damaging	Het
Sos1	T	A	17: 80,721,142 (GRCm39)	I893L	probably benign	Het
St8sia2	T	A	7: 73,593,069 (GRCm39)	Y329F	probably damaging	Het
Stra6l	C	A	4: 45,869,570 (GRCm39)	S212*	probably null	Het
Syne3	C	T	12: 104,963,754 (GRCm39)		probably benign	Het
Tenm4	T	A	7: 96,544,899 (GRCm39)	I2342N	probably benign	Het
Tescl	T	A	7: 24,032,688 (GRCm39)	E212D	probably benign	Het
Trip11	A	G	12: 101,811,114 (GRCm39)	S1879P	probably benign	Het
Ube2c	A	T	2: 164,613,211 (GRCm39)		probably null	Het
Umodl1	T	A	17: 31,205,430 (GRCm39)	I675N	probably benign	Het
Vipr2	T	C	12: 116,086,338 (GRCm39)	F121S	probably damaging	Het
Vmn1r206	A	T	13: 22,804,839 (GRCm39)	S123T	possibly damaging	Het
Vmn1r58	A	G	7: 5,413,912 (GRCm39)	V106A	probably damaging	Het
Vmn2r112	A	G	17: 22,822,099 (GRCm39)	Y259C	probably damaging	Het
Vmn2r66	T	C	7: 84,654,909 (GRCm39)	K467E	probably benign	Het
Vmn2r98	T	C	17: 19,300,797 (GRCm39)	F600L	probably benign	Het
Vps13a	T	A	19: 16,723,364 (GRCm39)	N278I	possibly damaging	Het
Vwa5a	A	C	9: 38,652,458 (GRCm39)	D747A	possibly damaging	Het
Xdh	G	A	17: 74,241,829 (GRCm39)	P157S	possibly damaging	Het
Xrn1	G	A	9: 95,880,401 (GRCm39)		probably null	Het
Zfp362	T	A	4: 128,680,824 (GRCm39)	H180L	probably benign	Het
Zfp560	A	T	9: 20,258,619 (GRCm39)	W748R	possibly damaging	Het
Zfp808	A	T	13: 62,320,478 (GRCm39)	Q569L	probably benign	Het
Zfp93	T	A	7: 23,974,643 (GRCm39)	D209E	possibly damaging	Het
Zftraf1	A	T	15: 76,542,747 (GRCm39)	Y138N	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
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
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

Predicted Primers

PCR Primer
(F):5'- GACTGTTTAACTACTGGTTCAGC -3'
(R):5'- GTGATGCTCTCCAGACCTTC -3'

Sequencing Primer
(F):5'- CGAGAATCTCGCACAATGTATTTTG -3'
(R):5'- GTAAAGACCCTGCAACTTGTGGC -3'

Posted On

2019-11-26