Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01776:Dock7'

153867

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Dock7

Ensembl Gene

ENSMUSG00000028556

Gene Name

dedicator of cytokinesis 7

Synonyms

3110056M06Rik, m, LOC242555

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01776

Quality Score

Status

Chromosome

Chromosomal Location

98936671-99120915 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 98940941 bp

Zygosity

Heterozygous

Amino Acid Change

Arginine to Serine at position 2069 (R2069S)

Ref Sequence

ENSEMBL: ENSMUSP00000145604 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030286] [ENSMUST00000075836] [ENSMUST00000127417] [ENSMUST00000205650] [ENSMUST00000205652]

Predicted Effect

probably benign
Transcript: ENSMUST00000030286
AA Change: R2099S

PolyPhen 2 Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000030286
Gene: ENSMUSG00000028556
AA Change: R2099S

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

unknown
Transcript: ENSMUST00000075836
AA Change: R2071S

SMART Domains

Protein: ENSMUSP00000075233
Gene: ENSMUSG00000028556
AA Change: R2071S

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

noncoding transcript
Transcript: ENSMUST00000124040

Predicted Effect

probably benign
Transcript: ENSMUST00000124466

Predicted Effect

unknown
Transcript: ENSMUST00000127417
AA Change: R2101S

SMART Domains

Protein: ENSMUSP00000117797
Gene: ENSMUSG00000028556
AA Change: R2101S

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140225

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000205484

Predicted Effect

possibly damaging
Transcript: ENSMUST00000205650
AA Change: R2069S

PolyPhen 2 Score 0.654 (Sensitivity: 0.87; Specificity: 0.91)

Predicted Effect

probably benign
Transcript: ENSMUST00000205652

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000206128

Coding Region Coverage

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: 23 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ankrd17	G	A	5: 90,283,364	Q854*	probably null	Het
Armc8	A	G	9: 99,526,883		probably benign	Het
Chrna7	A	G	7: 63,099,519	V405A	probably benign	Het
Col8a2	C	A	4: 126,309,805		probably benign	Het
Dcn	A	G	10: 97,495,076	I91V	possibly damaging	Het
Gm7247	A	G	14: 51,521,899	S112G	possibly damaging	Het
Hmcn1	T	G	1: 150,672,038	T2721P	possibly damaging	Het
Hsd3b3	T	C	3: 98,743,847	T96A	probably benign	Het
Ifi207	G	A	1: 173,725,044	L936F	probably damaging	Het
Kcp	G	A	6: 29,497,908	P477S	probably damaging	Het
Mei1	T	C	15: 82,095,932		probably null	Het
Mgmt	T	A	7: 137,121,564	L121*	probably null	Het
Mrps35	G	A	6: 147,070,716	V286I	probably benign	Het
Naxd	T	C	8: 11,505,525		probably null	Het
Pam	A	G	1: 97,885,600		probably null	Het
Plcxd1	G	A	5: 110,101,380		probably benign	Het
Rasgrp1	A	G	2: 117,286,840		probably null	Het
Spag9	C	T	11: 94,116,727		probably benign	Het
Spire2	T	C	8: 123,359,392	S288P	probably damaging	Het
Stk11ip	T	C	1: 75,527,821	V322A	probably benign	Het
Syt17	A	C	7: 118,409,953	L343R	probably damaging	Het
Tap1	G	A	17: 34,193,128	V436I	possibly damaging	Het
Virma	C	T	4: 11,527,792	R1228C	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
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
R0652:Dock7	UTSW	4	99055349	missense	possibly damaging	0.64
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
Z1176:Dock7	UTSW	4	98945225	missense	unknown

Posted On

2014-02-04