Mutagenetix > Incidental Mutation

Incidental Mutation 'R4522:Dock7'

334260

Institutional Source

Beutler Lab

Gene Symbol

Dock7

Ensembl Gene

ENSMUSG00000028556

Gene Name

dedicator of cytokinesis 7

Synonyms

3110056M06Rik, m, LOC242555

MMRRC Submission

041765-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4522 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

98936671-99120915 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 98962224 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glycine at position 1594 (R1594G)

Ref Sequence

ENSEMBL: ENSMUSP00000145604 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000030286
AA Change: R1624G

PolyPhen 2 Score 0.626 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000030286
Gene: ENSMUSG00000028556
AA Change: R1624G

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: R1594G

SMART Domains

Protein: ENSMUSP00000075233
Gene: ENSMUSG00000028556
AA Change: R1594G

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: ENSMUST00000124466

Predicted Effect

unknown
Transcript: ENSMUST00000127417
AA Change: R1624G

SMART Domains

Protein: ENSMUSP00000117797
Gene: ENSMUSG00000028556
AA Change: R1624G

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: ENSMUST00000139152

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140848

Predicted Effect

probably damaging
Transcript: ENSMUST00000205650
AA Change: R1594G

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

Predicted Effect

probably benign
Transcript: ENSMUST00000205652

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.1%

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: 31 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ascc3	A	G	10: 50,660,670	N700D	probably benign	Het
Babam2	G	A	5: 32,007,242	V287M	probably damaging	Het
Brip1	T	C	11: 86,189,801	I146M	possibly damaging	Het
Cacna1b	C	T	2: 24,654,430	R1248H	probably damaging	Het
Ccdc88c	G	T	12: 100,913,332	S1843R	possibly damaging	Het
Chaf1b	G	A	16: 93,901,295	A485T	probably benign	Het
Fam122c	G	A	X: 53,293,499	R94H	possibly damaging	Het
Fbxo41	A	G	6: 85,484,042	I228T	probably damaging	Het
Gm3739	T	A	14: 7,299,398	K86*	probably null	Het
Gm7173	A	T	X: 79,509,995	N291K	possibly damaging	Het
Mark2	A	T	19: 7,285,948	D151E	probably damaging	Het
Nop2	G	T	6: 125,133,552	R47L	probably damaging	Het
Nwd1	A	T	8: 72,670,951	D606V	probably damaging	Het
Olfr1132	T	A	2: 87,635,151	I199L	probably benign	Het
Pcbp1	T	C	6: 86,525,050	N289S	probably benign	Het
Plce1	T	C	19: 38,524,319	S21P	possibly damaging	Het
Ptpn18	T	C	1: 34,472,960	L55P	probably benign	Het
Rpl10l	T	C	12: 66,283,738	D207G	probably benign	Het
Rufy4	T	C	1: 74,147,663	C537R	probably damaging	Het
Sec23b	T	A	2: 144,578,366	I450N	possibly damaging	Het
Speg	A	G	1: 75,428,330	E2922G	probably damaging	Het
Spem1	C	A	11: 69,821,805		probably null	Het
Stxbp3-ps	A	T	19: 9,559,110		noncoding transcript	Het
Tmem38a	C	T	8: 72,572,161	P20S	possibly damaging	Het
Tmod2	T	C	9: 75,592,584	T129A	probably benign	Het
Ttc28	A	G	5: 111,280,172	T1845A	probably benign	Het
Ubqlnl	C	T	7: 104,149,718	V191M	probably benign	Het
Ush2a	C	T	1: 188,864,625	T3854M	probably damaging	Het
Vmn2r72	T	A	7: 85,751,926	H95L	probably benign	Het
Xdh	C	A	17: 73,898,344	G1042V	probably damaging	Het
Zfp105	T	A	9: 122,930,056	V264E	possibly 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
Beaming	UTSW	4	99079755	nonsense	probably null
moonlight	UTSW	4		large deletion
Nocturn	UTSW	4	99063962	missense	probably benign	0.00
sonata	UTSW	4	99001127	nonsense	probably null
BB005:Dock7	UTSW	4	99001098	missense
BB015:Dock7	UTSW	4	99001098	missense
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
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
R7928:Dock7	UTSW	4	99001098	missense
R7984:Dock7	UTSW	4	98989066	missense	unknown
R8287:Dock7	UTSW	4	98977920	missense	unknown
R8439:Dock7	UTSW	4	99083029	missense
R8466:Dock7	UTSW	4	99064099	missense	possibly damaging	0.70
R8758:Dock7	UTSW	4	99061318	missense
R8849:Dock7	UTSW	4	99016749	missense
R8944:Dock7	UTSW	4	98941006	missense	probably damaging	1.00
R8964:Dock7	UTSW	4	99061239	missense
R9008:Dock7	UTSW	4	98945211	nonsense	probably null
R9040:Dock7	UTSW	4	99001127	nonsense	probably null
R9160:Dock7	UTSW	4	98969725	missense	unknown
R9168:Dock7	UTSW	4	99065406	missense
R9189:Dock7	UTSW	4	98989113	missense	unknown
R9215:Dock7	UTSW	4	98970851	missense	unknown
R9243:Dock7	UTSW	4	98969634	missense	unknown
R9256:Dock7	UTSW	4	99083035	missense
R9328:Dock7	UTSW	4	99079827	missense
R9332:Dock7	UTSW	4	99008043	missense
R9450:Dock7	UTSW	4	98973189	missense	unknown
R9584:Dock7	UTSW	4	98973244	nonsense	probably null
R9631:Dock7	UTSW	4	98966323	missense	unknown
R9676:Dock7	UTSW	4	99016685	missense	probably damaging	1.00
R9701:Dock7	UTSW	4	98958147	missense	unknown
R9723:Dock7	UTSW	4	99020033	missense
R9723:Dock7	UTSW	4	99072423	missense
R9727:Dock7	UTSW	4	98987331	missense	unknown
R9777:Dock7	UTSW	4	98989227	missense	unknown
R9802:Dock7	UTSW	4	98958147	missense	unknown
X0027:Dock7	UTSW	4	99003853	missense	probably damaging	0.99
Z1176:Dock7	UTSW	4	98945225	missense	unknown

Predicted Primers

PCR Primer
(F):5'- CAAATGAGCAGAATTACACAACTGG -3'
(R):5'- CCTTTGCAGGGAAACAGAAGC -3'

Sequencing Primer
(F):5'- GAGTTTGTCTTCAGCACCCAAAGG -3'
(R):5'- GGGAAACAGAAGCACGTTTTCTTTTG -3'

Posted On

2015-08-18