Mutagenetix > Incidental Mutations

Incidental Mutation 'R0652:Dock7'

62277

Institutional Source

Beutler Lab

Gene Symbol

Dock7

Ensembl Gene

ENSMUSG00000028556

Gene Name

dedicator of cytokinesis 7

Synonyms

3110056M06Rik, m, LOC242555

MMRRC Submission

038837-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0652 (G1)

Quality Score

108

Status

Not validated

Chromosome

Chromosomal Location

98936671-99120915 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 99055349 bp

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 552 (D552G)

Ref Sequence

ENSEMBL: ENSMUSP00000145604 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030286] [ENSMUST00000075836] [ENSMUST00000127417] [ENSMUST00000205650]

Predicted Effect

probably benign
Transcript: ENSMUST00000030286
AA Change: D552G

PolyPhen 2 Score 0.294 (Sensitivity: 0.91; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000030286
Gene: ENSMUSG00000028556
AA Change: D552G

Domain	Start	End	E-Value	Type
Pfam:DUF3398	67	159	6.5e-30	PFAM
coiled coil region	367	394	N/A	INTRINSIC
low complexity region	493	504	N/A	INTRINSIC
Pfam:DOCK-C2	557	736	1.8e-51	PFAM
low complexity region	789	799	N/A	INTRINSIC
low complexity region	862	873	N/A	INTRINSIC
low complexity region	888	901	N/A	INTRINSIC
low complexity region	1135	1163	N/A	INTRINSIC
low complexity region	1350	1364	N/A	INTRINSIC
low complexity region	1543	1565	N/A	INTRINSIC
Pfam:DHR-2	1571	2095	1.4e-217	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000075836
AA Change: D552G

PolyPhen 2 Score 0.125 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000075233
Gene: ENSMUSG00000028556
AA Change: D552G

Domain	Start	End	E-Value	Type
Pfam:DUF3398	65	159	5.8e-34	PFAM
coiled coil region	367	394	N/A	INTRINSIC
low complexity region	493	504	N/A	INTRINSIC
Pfam:DOCK-C2	556	737	3.3e-58	PFAM
low complexity region	789	799	N/A	INTRINSIC
low complexity region	862	873	N/A	INTRINSIC
low complexity region	888	901	N/A	INTRINSIC
low complexity region	1105	1133	N/A	INTRINSIC
low complexity region	1320	1334	N/A	INTRINSIC
low complexity region	1513	1535	N/A	INTRINSIC
Pfam:Ded_cyto	1888	2065	6.5e-80	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000127417
AA Change: D552G

PolyPhen 2 Score 0.125 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000117797
Gene: ENSMUSG00000028556
AA Change: D552G

Domain	Start	End	E-Value	Type
low complexity region	140	162	N/A	INTRINSIC
Pfam:Ded_cyto	517	694	3e-80	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000131386

Predicted Effect

possibly damaging
Transcript: ENSMUST00000205650
AA Change: D552G

PolyPhen 2 Score 0.638 (Sensitivity: 0.87; Specificity: 0.91)

Meta Mutation Damage Score

0.2254

Coding Region Coverage

1x: 99.3%
3x: 98.5%
10x: 96.3%
20x: 90.1%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a guanine nucleotide exchange factor (GEF) that plays a role in axon formation and neuronal polarization. The encoded protein displays GEF activity toward RAC1 and RAC3 Rho small GTPases but not toward CDC42. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2012]
PHENOTYPE: Mice homozygous for mutations of this gene exhibit coat color dilution, white tail tip, and on some genetic backgrounds a white belly spot. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 86 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca9	T	C	11: 110,152,063	N387D	probably benign	Het
Adgrg5	T	A	8: 94,934,157		probably null	Het
Ahi1	C	A	10: 20,979,461	H556Q	probably damaging	Het
Amph	A	G	13: 19,086,621		probably null	Het
Apol7a	T	C	15: 77,389,855		probably benign	Het
Apoo-ps	A	T	13: 107,414,410		noncoding transcript	Het
Arpc1b	A	G	5: 145,126,860	D306G	probably damaging	Het
Astn2	T	C	4: 65,794,558	D615G	probably damaging	Het
Atm	A	G	9: 53,486,014	V1673A	probably damaging	Het
B3gnt3	A	T	8: 71,693,822	V21E	probably benign	Het
Bco1	A	G	8: 117,105,696	D77G	probably damaging	Het
Brinp2	A	T	1: 158,246,621	H643Q	probably damaging	Het
Bsn	A	G	9: 108,105,742	F3604S	unknown	Het
Cacna1c	A	G	6: 118,602,229	F1753L	probably damaging	Het
Cd74	T	C	18: 60,811,885	S201P	probably damaging	Het
Cep192	T	A	18: 67,807,265	L101Q	probably benign	Het
Cfap161	T	C	7: 83,793,276	I110V	probably null	Het
Cnksr3	T	C	10: 7,120,463	D257G	probably damaging	Het
Col14a1	A	C	15: 55,344,882	E121A	unknown	Het
Cpne3	T	C	4: 19,532,486	D309G	probably benign	Het
Ctnnd1	A	G	2: 84,602,896	I609T	probably benign	Het
Cyp2s1	A	G	7: 25,809,258	V253A	probably damaging	Het
Dpyd	A	G	3: 119,427,275	D965G	probably damaging	Het
Efcab2	T	A	1: 178,481,346	M138K	probably damaging	Het
Eml3	T	C	19: 8,933,285	S204P	probably damaging	Het
Fbxw16	T	A	9: 109,436,168	S432C	possibly damaging	Het
Fbxw20	T	G	9: 109,232,332	Q116H	probably damaging	Het
Fech	A	G	18: 64,458,169	S395P	probably damaging	Het
Fgf7	A	G	2: 126,035,955	K81E	probably benign	Het
Fras1	T	A	5: 96,781,340	Y3868N	possibly damaging	Het
Ganab	A	T	19: 8,915,402		probably null	Het
Gfra1	T	C	19: 58,300,554	N153S	possibly damaging	Het
Gja4	T	A	4: 127,312,127	Y281F	probably benign	Het
Gm15448	T	A	7: 3,822,763	Y369F	probably benign	Het
Gm4763	T	A	7: 24,724,197	N14I	possibly damaging	Het
Gm5141	T	C	13: 62,774,132	T407A	probably damaging	Het
Gm5422	T	C	10: 31,249,281		noncoding transcript	Het
Greb1	T	C	12: 16,696,456	Y1271C	probably damaging	Het
Hp1bp3	C	A	4: 138,228,769	N50K	possibly damaging	Het
Hspg2	T	C	4: 137,514,722	F589S	probably damaging	Het
Ido1	A	G	8: 24,585,244	F183S	probably damaging	Het
Iqgap1	T	A	7: 80,736,395	K936I	probably damaging	Het
Kdm4a	T	C	4: 118,175,689	D60G	probably benign	Het
L3mbtl4	G	A	17: 68,774,291	C558Y	probably damaging	Het
Lrrc28	T	C	7: 67,618,085	N98S	probably damaging	Het
Map1a	A	G	2: 121,302,783	D1360G	probably benign	Het
Megf10	C	T	18: 57,277,724	P702S	probably benign	Het
Met	A	G	6: 17,491,710	E157G	probably benign	Het
Mff	A	G	1: 82,750,564	D187G	possibly damaging	Het
Mlph	A	T	1: 90,942,908	I514F	possibly damaging	Het
Mroh2a	C	T	1: 88,230,680	R150*	probably null	Het
Myo15b	T	C	11: 115,864,642	V976A	probably benign	Het
Myo9a	A	G	9: 59,871,926	D1655G	probably benign	Het
Ncoa6	C	T	2: 155,391,211	G2059D	probably benign	Het
Ndst4	A	T	3: 125,611,539	H481L	possibly damaging	Het
Nipbl	A	G	15: 8,303,480	S2220P	probably benign	Het
Nom1	C	A	5: 29,435,311	P212T	probably damaging	Het
Nsd1	A	G	13: 55,247,586	D1000G	possibly damaging	Het
Nudt9	T	C	5: 104,050,601	F44S	possibly damaging	Het
Numb	C	T	12: 83,795,792	V537I	probably damaging	Het
Olfr1404	T	A	1: 173,215,957	I102N	possibly damaging	Het
Olfr1463	A	T	19: 13,234,535	Y95F	possibly damaging	Het
Olfr183	A	G	16: 58,999,700	N5S	probably damaging	Het
Olfr60	A	T	7: 140,345,632	M119K	probably damaging	Het
Olfr638	A	G	7: 104,003,239		probably null	Het
Olfr801	T	A	10: 129,670,379	T47S	probably benign	Het
Osgin1	A	T	8: 119,445,472	Y335F	probably damaging	Het
Pcdh10	T	A	3: 45,379,764	V171E	probably damaging	Het
Plxna4	T	C	6: 32,185,501	N1359S	probably damaging	Het
Ppp1r16a	C	T	15: 76,690,799		probably benign	Het
Prr5l	T	C	2: 101,772,290	T2A	possibly damaging	Het
Rbp3	T	A	14: 33,958,648	I1069N	possibly damaging	Het
Rnf144b	A	G	13: 47,220,507	Y60C	probably damaging	Het
Sbno2	A	T	10: 80,067,294	V396E	probably damaging	Het
Sdk1	A	G	5: 141,954,958	T494A	probably benign	Het
Serac1	G	T	17: 6,051,756	D384E	probably damaging	Het
Sgk1	A	G	10: 21,882,657	N7D	probably damaging	Het
Sigirr	A	T	7: 141,093,067	V69D	possibly damaging	Het
Slc17a3	C	T	13: 23,855,858	S293F	probably damaging	Het
St6gal2	T	C	17: 55,498,289	Y396H	probably benign	Het
Ttn	A	T	2: 76,768,612	F19319Y	probably damaging	Het
Ubr4	T	A	4: 139,401,326	I599N	probably damaging	Het
Vmn1r213	A	G	13: 23,011,394		probably benign	Het
Vmn2r96	T	A	17: 18,597,568	M469K	probably benign	Het
Wasf1	T	A	10: 40,931,906		probably null	Het
Wdr20rt	T	C	12: 65,225,915	S51P	probably damaging	Het

Other mutations in Dock7

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00159:Dock7	APN	4	99063985	missense	probably damaging	1.00
IGL01126:Dock7	APN	4	98973552	splice site	probably benign
IGL01490:Dock7	APN	4	98945118	unclassified	probably benign
IGL01553:Dock7	APN	4	98945566	nonsense	probably null
IGL01728:Dock7	APN	4	98962331	missense	probably damaging	1.00
IGL01776:Dock7	APN	4	98940941	missense	possibly damaging	0.65
IGL01954:Dock7	APN	4	99083151	missense	probably damaging	0.99
IGL01985:Dock7	APN	4	99023377	missense	probably benign	0.35
IGL02054:Dock7	APN	4	98973409	missense	probably damaging	1.00
IGL02150:Dock7	APN	4	99079852	splice site	probably benign
IGL02153:Dock7	APN	4	98958067	missense	probably benign	0.15
IGL02183:Dock7	APN	4	98958991	missense	possibly damaging	0.89
IGL02494:Dock7	APN	4	98989234	missense	probably benign	0.18
IGL02618:Dock7	APN	4	99083028	missense	probably benign	0.00
IGL02634:Dock7	APN	4	98989296	missense	probably damaging	1.00
IGL02670:Dock7	APN	4	98966286	splice site	probably null
IGL02690:Dock7	APN	4	98969635	missense	possibly damaging	0.95
IGL02692:Dock7	APN	4	98987386	missense	probably damaging	1.00
IGL02833:Dock7	APN	4	98945495	missense	probably damaging	1.00
IGL02858:Dock7	APN	4	98945205	nonsense	probably null
IGL02875:Dock7	APN	4	98975994	missense	probably benign	0.00
IGL03027:Dock7	APN	4	98977927	missense	probably benign
IGL03027:Dock7	APN	4	99070213	missense	possibly damaging	0.71
IGL03032:Dock7	APN	4	98966348	missense	probably benign	0.02
IGL03104:Dock7	APN	4	98959023	missense	possibly damaging	0.60
IGL03136:Dock7	APN	4	99003791	missense	probably damaging	1.00
IGL03345:Dock7	APN	4	98984819	missense	possibly damaging	0.91
moonlight	UTSW	4		large deletion
PIT4810001:Dock7	UTSW	4	98945559	nonsense	probably null
R0086:Dock7	UTSW	4	98945144	missense	probably damaging	1.00
R0242:Dock7	UTSW	4	98962280	missense	probably benign
R0242:Dock7	UTSW	4	98962280	missense	probably benign
R0245:Dock7	UTSW	4	99055349	missense	possibly damaging	0.64
R0308:Dock7	UTSW	4	98984814	missense	probably benign	0.07
R0556:Dock7	UTSW	4	98945189	missense	probably damaging	1.00
R0612:Dock7	UTSW	4	98989233	missense	probably benign	0.31
R0669:Dock7	UTSW	4	98987479	missense	probably benign	0.00
R0681:Dock7	UTSW	4	99016704	missense	probably damaging	1.00
R0725:Dock7	UTSW	4	98945291	missense	probably damaging	1.00
R0828:Dock7	UTSW	4	99015745	missense	probably damaging	1.00
R0837:Dock7	UTSW	4	98989258	missense	probably benign	0.01
R0962:Dock7	UTSW	4	98945195	missense	possibly damaging	0.85
R1140:Dock7	UTSW	4	99065406	missense	possibly damaging	0.82
R1476:Dock7	UTSW	4	99079435	missense	possibly damaging	0.52
R1614:Dock7	UTSW	4	99061280	missense	probably benign	0.12
R1625:Dock7	UTSW	4	98962196	splice site	probably null
R1640:Dock7	UTSW	4	98945246	missense	probably damaging	1.00
R1752:Dock7	UTSW	4	98966444	missense	probably damaging	1.00
R1941:Dock7	UTSW	4	98984715	missense	probably benign	0.09
R2020:Dock7	UTSW	4	98959101	missense	probably damaging	1.00
R2092:Dock7	UTSW	4	99009308	missense	possibly damaging	0.95
R2293:Dock7	UTSW	4	98966369	missense	probably damaging	1.00
R2424:Dock7	UTSW	4	98945307	nonsense	probably null
R3767:Dock7	UTSW	4	98970829	missense	probably benign
R3768:Dock7	UTSW	4	98970829	missense	probably benign
R3769:Dock7	UTSW	4	98970829	missense	probably benign
R3770:Dock7	UTSW	4	98970829	missense	probably benign
R3917:Dock7	UTSW	4	99016685	missense	probably damaging	1.00
R3943:Dock7	UTSW	4	98992431	missense	probably damaging	1.00
R4021:Dock7	UTSW	4	99003920	splice site	probably null
R4073:Dock7	UTSW	4	99008059	missense	probably benign	0.02
R4170:Dock7	UTSW	4	98966401	missense	probably damaging	0.99
R4180:Dock7	UTSW	4	99016736	missense	probably benign	0.05
R4261:Dock7	UTSW	4	99003886	missense	possibly damaging	0.78
R4321:Dock7	UTSW	4	99072454	missense	probably damaging	1.00
R4522:Dock7	UTSW	4	98962224	missense	probably damaging	1.00
R4582:Dock7	UTSW	4	99003916	missense	possibly damaging	0.90
R4648:Dock7	UTSW	4	98969644	nonsense	probably null
R4940:Dock7	UTSW	4	99020077	missense	probably damaging	1.00
R5090:Dock7	UTSW	4	98991411	missense	probably benign	0.04
R5374:Dock7	UTSW	4	98989038	missense	possibly damaging	0.81
R5392:Dock7	UTSW	4	99008006	missense	probably damaging	1.00
R5527:Dock7	UTSW	4	98953868	intron	probably benign
R5544:Dock7	UTSW	4	98967257	missense	probably damaging	1.00
R5556:Dock7	UTSW	4	98944735	missense	probably damaging	1.00
R5870:Dock7	UTSW	4	99063962	missense	probably benign	0.00
R5899:Dock7	UTSW	4	98991423	missense	probably benign
R6360:Dock7	UTSW	4	98969662	missense	probably benign	0.02
R6415:Dock7	UTSW	4	98992448	missense	probably damaging	1.00
R6468:Dock7	UTSW	4	98967227	missense	probably benign	0.15
R6562:Dock7	UTSW	4	98991410	missense	probably damaging	0.97
R6613:Dock7	UTSW	4	98977960	missense	probably damaging	0.99
R6703:Dock7	UTSW	4	98946672	missense	probably damaging	1.00
R6723:Dock7	UTSW	4	99003916	missense	possibly damaging	0.90
R6786:Dock7	UTSW	4	99061292	missense	probably benign	0.42
R7026:Dock7	UTSW	4	99078919	missense	probably benign
R7051:Dock7	UTSW	4	98946732	missense	probably damaging	1.00
R7074:Dock7	UTSW	4	98945208	missense	unknown
R7106:Dock7	UTSW	4	98967326	missense	unknown
R7147:Dock7	UTSW	4	98961417	missense	unknown
R7257:Dock7	UTSW	4	98973412	missense	unknown
R7334:Dock7	UTSW	4	98975943	missense	unknown
R7511:Dock7	UTSW	4	99061282	missense
R7511:Dock7	UTSW	4	99079755	nonsense	probably null
R7729:Dock7	UTSW	4	99055446	missense
X0027:Dock7	UTSW	4	99003853	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- CCCAGCACATAGGTAGAGCTTATTATGC -3'
(R):5'- ACCAAATTCTGTGGCTGTGACAGAC -3'

Sequencing Primer
(F):5'- GTAACAGAAGGTATAAGTTA -3'
(R):5'- cagaagtagatggaagtaggaagg -3'

Posted On

2013-07-30