Mutagenetix > Incidental Mutations

Incidental Mutation 'R6360:Dock7'

513055

Institutional Source

Beutler Lab

Gene Symbol

Dock7

Ensembl Gene

ENSMUSG00000028556

Gene Name

dedicator of cytokinesis 7

Synonyms

3110056M06Rik, m, LOC242555

MMRRC Submission

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6360 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

98936671-99120915 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 98969662 bp

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 1472 (I1472V)

Ref Sequence

ENSEMBL: ENSMUSP00000030286 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000030286
AA Change: I1472V

PolyPhen 2 Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000030286
Gene: ENSMUSG00000028556
AA Change: I1472V

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: I1442V

SMART Domains

Protein: ENSMUSP00000075233
Gene: ENSMUSG00000028556
AA Change: I1442V

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: I1472V

SMART Domains

Protein: ENSMUSP00000117797
Gene: ENSMUSG00000028556
AA Change: I1472V

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: ENSMUST00000205650
AA Change: I1442V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

Meta Mutation Damage Score

0.0642

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.3%
20x: 95.2%

Validation Efficiency

98% (59/60)

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arhgap10	G	A	8: 77,259,202	Q657*	probably null	Het
Car15	T	C	16: 17,838,066	T560A	probably benign	Het
Cass4	C	T	2: 172,432,611	H769Y	probably damaging	Het
Cdh6	A	G	15: 13,041,460	I506T	possibly damaging	Het
Clstn3	G	T	6: 124,438,429	R659S	possibly damaging	Het
Cntnap5b	C	T	1: 100,431,736	R695*	probably null	Het
Cpsf1	CCCCTGCATGAGGCAGGTCCC	CCCC	15: 76,597,455		probably null	Het
Dab2ip	A	G	2: 35,710,266	H355R	probably benign	Het
Dennd2a	C	T	6: 39,493,142	A539T	probably benign	Het
Dnajc18	T	C	18: 35,686,709	E173G	probably damaging	Het
Esco1	A	T	18: 10,574,931	F714I	probably damaging	Het
Fam107a	T	G	14: 8,299,619	H73P	probably damaging	Het
Fam46b	T	C	4: 133,486,756	F313L	probably damaging	Het
Flg	A	G	3: 93,290,601		probably benign	Het
Fyn	C	A	10: 39,526,883	T217K	possibly damaging	Het
Gbp9	T	C	5: 105,083,730	D330G	probably benign	Het
Gin1	T	C	1: 97,792,539	S509P	possibly damaging	Het
Gm15922	A	T	7: 3,736,504	L455Q	probably damaging	Het
Gm17067	A	C	7: 42,708,482	S199A	probably benign	Het
Grk4	A	T	5: 34,674,537	K50M	probably damaging	Het
Inpp4b	A	G	8: 81,902,852	H272R	probably benign	Het
Ipo7	T	A	7: 110,027,129	L48Q	probably damaging	Het
Kbtbd2	A	G	6: 56,779,206	I515T	probably damaging	Het
Kcnu1	T	A	8: 25,861,180	S190R	possibly damaging	Het
Kpnb1	T	C	11: 97,173,270	N336S	probably benign	Het
Lbr	G	T	1: 181,832,155	D158E	probably benign	Het
Mphosph10	T	C	7: 64,389,955	Q89R	probably benign	Het
Nectin3	T	A	16: 46,411,109	T21S	probably benign	Het
Numb	C	A	12: 83,797,262	R383L	probably damaging	Het
Olfr1370	A	T	13: 21,072,583	N239K	probably damaging	Het
Olfr461	G	T	6: 40,544,713	Q89K	possibly damaging	Het
Park2	T	C	17: 12,004,052	F363S	probably damaging	Het
Pcdhb11	A	T	18: 37,422,159	I181F	probably benign	Het
Pcgf2	T	A	11: 97,692,409		probably null	Het
Pdzd8	T	C	19: 59,300,983	T662A	probably benign	Het
Pex13	A	C	11: 23,655,690	V180G	probably benign	Het
Pkp4	T	A	2: 59,214,747	V22D	probably benign	Het
Ppp1r32	T	C	19: 10,479,481	N167D	probably damaging	Het
Prpf4b	A	C	13: 34,901,433	D954A	probably damaging	Het
Rfx8	T	C	1: 39,680,965	I317V	probably benign	Het
Rnaseh2b	T	C	14: 62,361,419	S198P	probably damaging	Het
Rock1	A	T	18: 10,116,778	C453S	possibly damaging	Het
Scarf1	G	T	11: 75,515,669	G260W	probably damaging	Het
Scyl1	T	C	19: 5,760,571	E538G	probably damaging	Het
Sec14l5	A	T	16: 5,172,995	I267F	probably damaging	Het
Senp6	T	A	9: 80,113,806	V256D	probably benign	Het
Sf3b4	G	A	3: 96,176,728		probably benign	Het
Ssh1	T	C	5: 113,961,347		probably null	Het
Tas2r143	A	C	6: 42,400,835	M200L	probably benign	Het
Tbc1d22a	C	T	15: 86,214,629	P19S	probably damaging	Het
Tmc5	T	A	7: 118,633,966	M1K	probably null	Het
Tnc	T	C	4: 64,000,733	Y1151C	probably damaging	Het
Tshz3	A	G	7: 36,769,441	E285G	probably damaging	Het
Txndc11	C	T	16: 11,084,792	V664M	probably damaging	Het
Ube2g1	A	T	11: 72,663,082	N20Y	probably damaging	Het
Ufl1	T	A	4: 25,265,476	I369L	probably benign	Het
Vwf	A	T	6: 125,683,526	T2666S	probably benign	Het
Yif1a	A	G	19: 5,092,341	M259V	probably benign	Het
Zbtb46	T	C	2: 181,391,455	D471G	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
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
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

Predicted Primers

PCR Primer
(F):5'- AGGCCTTGAATATGACAAACAGATG -3'
(R):5'- AACATGCATGCCCTCAGTG -3'

Sequencing Primer
(F):5'- CAGATGTAGATTTTATAAGCACCCTC -3'
(R):5'- GATGTACAGTGAGAACCTGCCTC -3'

Posted On

2018-04-27