Mutagenetix > Incidental Mutation

Incidental Mutation 'R7026:Dock7'

545950

Institutional Source

Beutler Lab

Gene Symbol

Dock7

Ensembl Gene

ENSMUSG00000028556

Gene Name

dedicator of cytokinesis 7

Synonyms

m, LOC242555, 3110056M06Rik

MMRRC Submission

045127-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7026 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

98824908-99009152 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 98967156 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 255 (D255E)

Ref Sequence

ENSEMBL: ENSMUSP00000145604 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000030286
AA Change: D255E

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

SMART Domains

Protein: ENSMUSP00000030286
Gene: ENSMUSG00000028556
AA Change: D255E

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

SMART Domains

Protein: ENSMUSP00000075233
Gene: ENSMUSG00000028556
AA Change: D255E

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

SMART Domains

Protein: ENSMUSP00000117797
Gene: ENSMUSG00000028556
AA Change: D255E

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: D255E

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 98.9%

Validation Efficiency

99% (69/70)

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc2	A	T	19: 43,805,392 (GRCm39)	M749L	probably benign	Het
Abcc2	A	G	19: 43,818,974 (GRCm39)	N1321S	probably benign	Het
Acsm2	T	A	7: 119,191,450 (GRCm39)	V506E	probably damaging	Het
Add2	G	A	6: 86,063,965 (GRCm39)	R88Q	probably benign	Het
Adgra3	A	G	5: 50,118,083 (GRCm39)	V1155A	probably benign	Het
Ahsg	T	A	16: 22,710,963 (GRCm39)	D33E	probably damaging	Het
Alox12b	A	T	11: 69,048,131 (GRCm39)	D20V	possibly damaging	Het
Alppl2	A	G	1: 87,017,420 (GRCm39)		probably null	Het
Ankfn1	A	G	11: 89,530,403 (GRCm39)	*49Q	probably null	Het
Bcl11b	T	C	12: 107,882,851 (GRCm39)	D488G	probably damaging	Het
Bcl2l10	T	A	9: 75,258,364 (GRCm39)	F175L	probably benign	Het
C2cd3	T	A	7: 100,081,299 (GRCm39)	D127E	probably damaging	Het
Cacna1c	C	T	6: 118,614,732 (GRCm39)	V1311I	probably damaging	Het
Cd55b	A	T	1: 130,316,427 (GRCm39)	I374K	probably benign	Het
Cfap36	T	C	11: 29,172,565 (GRCm39)	T267A	probably benign	Het
Cibar2	G	A	8: 120,895,324 (GRCm39)	H193Y	probably damaging	Het
Cog1	T	C	11: 113,540,415 (GRCm39)	L10P	probably damaging	Het
Dnah7a	T	A	1: 53,543,448 (GRCm39)	M2241L	probably benign	Het
Dock10	G	T	1: 80,479,504 (GRCm39)	A1809E	probably benign	Het
Exph5	T	C	9: 53,251,728 (GRCm39)	F123L	probably benign	Het
Fbxw27	C	A	9: 109,617,146 (GRCm39)	K118N	possibly damaging	Het
Fscb	C	A	12: 64,518,391 (GRCm39)	S1025I	unknown	Het
Get4	C	T	5: 139,238,358 (GRCm39)	R47W	possibly damaging	Het
Gm3676	G	A	14: 41,366,072 (GRCm39)	S81F	probably benign	Het
Gulp1	C	T	1: 44,820,245 (GRCm39)	P251S	possibly damaging	Het
Hhatl	T	C	9: 121,617,339 (GRCm39)	D298G	probably benign	Het
Hsf2bp	T	A	17: 32,252,254 (GRCm39)	K60N	possibly damaging	Het
Ints4	T	A	7: 97,168,361 (GRCm39)	V625D	possibly damaging	Het
Iqch	T	A	9: 63,432,421 (GRCm39)	K286*	probably null	Het
Irak1bp1	T	A	9: 82,712,084 (GRCm39)	S2T	possibly damaging	Het
Kdm3b	G	A	18: 34,955,517 (GRCm39)	V1135I	possibly damaging	Het
Lama3	C	A	18: 12,649,605 (GRCm39)	N181K	probably damaging	Het
Lrfn2	T	G	17: 49,404,005 (GRCm39)	S709R	probably benign	Het
Lrp12	T	C	15: 39,743,566 (GRCm39)	H123R	probably damaging	Het
Lrp1b	A	G	2: 41,159,234 (GRCm39)	S1569P	probably damaging	Het
Lrp2	T	G	2: 69,352,131 (GRCm39)	Q635P	probably damaging	Het
Mboat2	T	C	12: 24,998,381 (GRCm39)		probably null	Het
Mctp1	A	G	13: 76,954,378 (GRCm39)	T596A	probably benign	Het
Mroh9	T	A	1: 162,888,251 (GRCm39)	M275L	probably benign	Het
Ms4a10	A	C	19: 10,944,869 (GRCm39)		probably null	Het
Myo9a	C	T	9: 59,722,617 (GRCm39)	R560C	probably damaging	Het
Or11h4b	A	G	14: 50,918,716 (GRCm39)	I125T	probably damaging	Het
Or5b107	A	G	19: 13,142,779 (GRCm39)	T134A	probably benign	Het
Or6z1	T	A	7: 6,504,820 (GRCm39)	H135L	probably damaging	Het
Ormdl3	A	G	11: 98,474,808 (GRCm39)	V45A	possibly damaging	Het
Parp4	T	C	14: 56,858,049 (GRCm39)	Y894H	probably benign	Het
Pigo	G	A	4: 43,023,380 (GRCm39)	Q259*	probably null	Het
Prrc2a	G	A	17: 35,380,803 (GRCm39)	P70S	unknown	Het
Rab3ip	A	G	10: 116,773,441 (GRCm39)	I124T	probably benign	Het
Rap1b	A	G	10: 117,654,384 (GRCm39)	I21T	probably benign	Het
Rasgrf2	T	A	13: 92,131,732 (GRCm39)	S642C	probably damaging	Het
Rb1	T	C	14: 73,535,539 (GRCm39)	E106G	probably benign	Het
Reps1	C	A	10: 17,983,437 (GRCm39)	R427S	probably damaging	Het
Rnf213	A	C	11: 119,370,481 (GRCm39)	H4760P	possibly damaging	Het
Rtl1	A	G	12: 109,559,595 (GRCm39)	I748T	probably damaging	Het
Sco1	A	T	11: 66,944,683 (GRCm39)	K102M	probably damaging	Het
Sec16b	T	C	1: 157,362,281 (GRCm39)	M44T	possibly damaging	Het
Slc7a10	T	C	7: 34,898,139 (GRCm39)	M297T	probably damaging	Het
Smchd1	T	C	17: 71,656,662 (GRCm39)	H1935R	probably benign	Het
Sowaha	G	A	11: 53,370,050 (GRCm39)	R229W	probably damaging	Het
Sptlc3	A	T	2: 139,379,608 (GRCm39)	M83L	probably benign	Het
Tbc1d9	T	C	8: 83,968,192 (GRCm39)	V431A	probably benign	Het
Tmem98	A	G	11: 80,712,214 (GRCm39)	E217G	possibly damaging	Het
Trim13	T	A	14: 61,842,562 (GRCm39)	L193*	probably null	Het
Trp53bp2	T	C	1: 182,270,300 (GRCm39)	S367P	probably benign	Het
Tsc2	T	G	17: 24,845,713 (GRCm39)	I202L	probably damaging	Het
Twf2	T	A	9: 106,092,079 (GRCm39)	V312E	probably damaging	Het
Usp34	G	T	11: 23,311,622 (GRCm39)	L471F	probably damaging	Het
Vps37c	A	G	19: 10,683,632 (GRCm39)	D18G	probably damaging	Het
Zfp1010	T	A	2: 176,957,361 (GRCm39)	I46F	probably benign	Het

Other mutations in Dock7

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00159:Dock7	APN	4	98,952,222 (GRCm39)	missense	probably damaging	1.00
IGL01126:Dock7	APN	4	98,861,789 (GRCm39)	splice site	probably benign
IGL01490:Dock7	APN	4	98,833,355 (GRCm39)	unclassified	probably benign
IGL01553:Dock7	APN	4	98,833,803 (GRCm39)	nonsense	probably null
IGL01728:Dock7	APN	4	98,850,568 (GRCm39)	missense	probably damaging	1.00
IGL01776:Dock7	APN	4	98,829,178 (GRCm39)	missense	possibly damaging	0.65
IGL01954:Dock7	APN	4	98,971,388 (GRCm39)	missense	probably damaging	0.99
IGL01985:Dock7	APN	4	98,911,614 (GRCm39)	missense	probably benign	0.35
IGL02054:Dock7	APN	4	98,861,646 (GRCm39)	missense	probably damaging	1.00
IGL02150:Dock7	APN	4	98,968,089 (GRCm39)	splice site	probably benign
IGL02153:Dock7	APN	4	98,846,304 (GRCm39)	missense	probably benign	0.15
IGL02183:Dock7	APN	4	98,847,228 (GRCm39)	missense	possibly damaging	0.89
IGL02494:Dock7	APN	4	98,877,471 (GRCm39)	missense	probably benign	0.18
IGL02618:Dock7	APN	4	98,971,265 (GRCm39)	missense	probably benign	0.00
IGL02634:Dock7	APN	4	98,877,533 (GRCm39)	missense	probably damaging	1.00
IGL02670:Dock7	APN	4	98,854,523 (GRCm39)	splice site	probably null
IGL02690:Dock7	APN	4	98,857,872 (GRCm39)	missense	possibly damaging	0.95
IGL02692:Dock7	APN	4	98,875,623 (GRCm39)	missense	probably damaging	1.00
IGL02833:Dock7	APN	4	98,833,732 (GRCm39)	missense	probably damaging	1.00
IGL02858:Dock7	APN	4	98,833,442 (GRCm39)	nonsense	probably null
IGL02875:Dock7	APN	4	98,864,231 (GRCm39)	missense	probably benign	0.00
IGL03027:Dock7	APN	4	98,958,450 (GRCm39)	missense	possibly damaging	0.71
IGL03027:Dock7	APN	4	98,866,164 (GRCm39)	missense	probably benign
IGL03032:Dock7	APN	4	98,854,585 (GRCm39)	missense	probably benign	0.02
IGL03104:Dock7	APN	4	98,847,260 (GRCm39)	missense	possibly damaging	0.60
IGL03136:Dock7	APN	4	98,892,028 (GRCm39)	missense	probably damaging	1.00
IGL03345:Dock7	APN	4	98,873,056 (GRCm39)	missense	possibly damaging	0.91
Beaming	UTSW	4	98,967,992 (GRCm39)	nonsense	probably null
moonlight	UTSW	4	0 ()	large deletion
Nocturn	UTSW	4	98,952,199 (GRCm39)	missense	probably benign	0.00
sonata	UTSW	4	98,889,364 (GRCm39)	nonsense	probably null
BB005:Dock7	UTSW	4	98,889,335 (GRCm39)	missense
BB015:Dock7	UTSW	4	98,889,335 (GRCm39)	missense
PIT4810001:Dock7	UTSW	4	98,833,796 (GRCm39)	nonsense	probably null
R0086:Dock7	UTSW	4	98,833,381 (GRCm39)	missense	probably damaging	1.00
R0242:Dock7	UTSW	4	98,850,517 (GRCm39)	missense	probably benign
R0242:Dock7	UTSW	4	98,850,517 (GRCm39)	missense	probably benign
R0245:Dock7	UTSW	4	98,943,586 (GRCm39)	missense	possibly damaging	0.64
R0308:Dock7	UTSW	4	98,873,051 (GRCm39)	missense	probably benign	0.07
R0556:Dock7	UTSW	4	98,833,426 (GRCm39)	missense	probably damaging	1.00
R0612:Dock7	UTSW	4	98,877,470 (GRCm39)	missense	probably benign	0.31
R0652:Dock7	UTSW	4	98,943,586 (GRCm39)	missense	possibly damaging	0.64
R0669:Dock7	UTSW	4	98,875,716 (GRCm39)	missense	probably benign	0.00
R0681:Dock7	UTSW	4	98,904,941 (GRCm39)	missense	probably damaging	1.00
R0725:Dock7	UTSW	4	98,833,528 (GRCm39)	missense	probably damaging	1.00
R0828:Dock7	UTSW	4	98,903,982 (GRCm39)	missense	probably damaging	1.00
R0837:Dock7	UTSW	4	98,877,495 (GRCm39)	missense	probably benign	0.01
R0962:Dock7	UTSW	4	98,833,432 (GRCm39)	missense	possibly damaging	0.85
R1140:Dock7	UTSW	4	98,953,643 (GRCm39)	missense	possibly damaging	0.82
R1476:Dock7	UTSW	4	98,967,672 (GRCm39)	missense	possibly damaging	0.52
R1614:Dock7	UTSW	4	98,949,517 (GRCm39)	missense	probably benign	0.12
R1625:Dock7	UTSW	4	98,850,433 (GRCm39)	splice site	probably null
R1640:Dock7	UTSW	4	98,833,483 (GRCm39)	missense	probably damaging	1.00
R1752:Dock7	UTSW	4	98,854,681 (GRCm39)	missense	probably damaging	1.00
R1941:Dock7	UTSW	4	98,872,952 (GRCm39)	missense	probably benign	0.09
R2020:Dock7	UTSW	4	98,847,338 (GRCm39)	missense	probably damaging	1.00
R2092:Dock7	UTSW	4	98,897,545 (GRCm39)	missense	possibly damaging	0.95
R2293:Dock7	UTSW	4	98,854,606 (GRCm39)	missense	probably damaging	1.00
R2424:Dock7	UTSW	4	98,833,544 (GRCm39)	nonsense	probably null
R3767:Dock7	UTSW	4	98,859,066 (GRCm39)	missense	probably benign
R3768:Dock7	UTSW	4	98,859,066 (GRCm39)	missense	probably benign
R3769:Dock7	UTSW	4	98,859,066 (GRCm39)	missense	probably benign
R3770:Dock7	UTSW	4	98,859,066 (GRCm39)	missense	probably benign
R3917:Dock7	UTSW	4	98,904,922 (GRCm39)	missense	probably damaging	1.00
R3943:Dock7	UTSW	4	98,880,668 (GRCm39)	missense	probably damaging	1.00
R4021:Dock7	UTSW	4	98,892,157 (GRCm39)	splice site	probably null
R4073:Dock7	UTSW	4	98,896,296 (GRCm39)	missense	probably benign	0.02
R4170:Dock7	UTSW	4	98,854,638 (GRCm39)	missense	probably damaging	0.99
R4180:Dock7	UTSW	4	98,904,973 (GRCm39)	missense	probably benign	0.05
R4261:Dock7	UTSW	4	98,892,123 (GRCm39)	missense	possibly damaging	0.78
R4321:Dock7	UTSW	4	98,960,691 (GRCm39)	missense	probably damaging	1.00
R4522:Dock7	UTSW	4	98,850,461 (GRCm39)	missense	probably damaging	1.00
R4582:Dock7	UTSW	4	98,892,153 (GRCm39)	missense	possibly damaging	0.90
R4648:Dock7	UTSW	4	98,857,881 (GRCm39)	nonsense	probably null
R4940:Dock7	UTSW	4	98,908,314 (GRCm39)	missense	probably damaging	1.00
R5090:Dock7	UTSW	4	98,879,648 (GRCm39)	missense	probably benign	0.04
R5374:Dock7	UTSW	4	98,877,275 (GRCm39)	missense	possibly damaging	0.81
R5392:Dock7	UTSW	4	98,896,243 (GRCm39)	missense	probably damaging	1.00
R5527:Dock7	UTSW	4	98,842,105 (GRCm39)	intron	probably benign
R5544:Dock7	UTSW	4	98,855,494 (GRCm39)	missense	probably damaging	1.00
R5556:Dock7	UTSW	4	98,832,972 (GRCm39)	missense	probably damaging	1.00
R5870:Dock7	UTSW	4	98,952,199 (GRCm39)	missense	probably benign	0.00
R5899:Dock7	UTSW	4	98,879,660 (GRCm39)	missense	probably benign
R6360:Dock7	UTSW	4	98,857,899 (GRCm39)	missense	probably benign	0.02
R6415:Dock7	UTSW	4	98,880,685 (GRCm39)	missense	probably damaging	1.00
R6468:Dock7	UTSW	4	98,855,464 (GRCm39)	missense	probably benign	0.15
R6562:Dock7	UTSW	4	98,879,647 (GRCm39)	missense	probably damaging	0.97
R6613:Dock7	UTSW	4	98,866,197 (GRCm39)	missense	probably damaging	0.99
R6703:Dock7	UTSW	4	98,834,909 (GRCm39)	missense	probably damaging	1.00
R6723:Dock7	UTSW	4	98,892,153 (GRCm39)	missense	possibly damaging	0.90
R6786:Dock7	UTSW	4	98,949,529 (GRCm39)	missense	probably benign	0.42
R7051:Dock7	UTSW	4	98,834,969 (GRCm39)	missense	probably damaging	1.00
R7074:Dock7	UTSW	4	98,833,445 (GRCm39)	missense	unknown
R7106:Dock7	UTSW	4	98,855,563 (GRCm39)	missense	unknown
R7147:Dock7	UTSW	4	98,849,654 (GRCm39)	missense	unknown
R7257:Dock7	UTSW	4	98,861,649 (GRCm39)	missense	unknown
R7334:Dock7	UTSW	4	98,864,180 (GRCm39)	missense	unknown
R7511:Dock7	UTSW	4	98,967,992 (GRCm39)	nonsense	probably null
R7511:Dock7	UTSW	4	98,949,519 (GRCm39)	missense
R7729:Dock7	UTSW	4	98,943,683 (GRCm39)	missense
R7928:Dock7	UTSW	4	98,889,335 (GRCm39)	missense
R7984:Dock7	UTSW	4	98,877,303 (GRCm39)	missense	unknown
R8287:Dock7	UTSW	4	98,866,157 (GRCm39)	missense	unknown
R8439:Dock7	UTSW	4	98,971,266 (GRCm39)	missense
R8466:Dock7	UTSW	4	98,952,336 (GRCm39)	missense	possibly damaging	0.70
R8758:Dock7	UTSW	4	98,949,555 (GRCm39)	missense
R8849:Dock7	UTSW	4	98,904,986 (GRCm39)	missense
R8944:Dock7	UTSW	4	98,829,243 (GRCm39)	missense	probably damaging	1.00
R8964:Dock7	UTSW	4	98,949,476 (GRCm39)	missense
R9008:Dock7	UTSW	4	98,833,448 (GRCm39)	nonsense	probably null
R9040:Dock7	UTSW	4	98,889,364 (GRCm39)	nonsense	probably null
R9160:Dock7	UTSW	4	98,857,962 (GRCm39)	missense	unknown
R9168:Dock7	UTSW	4	98,953,643 (GRCm39)	missense
R9189:Dock7	UTSW	4	98,877,350 (GRCm39)	missense	unknown
R9215:Dock7	UTSW	4	98,859,088 (GRCm39)	missense	unknown
R9243:Dock7	UTSW	4	98,857,871 (GRCm39)	missense	unknown
R9256:Dock7	UTSW	4	98,971,272 (GRCm39)	missense
R9328:Dock7	UTSW	4	98,968,064 (GRCm39)	missense
R9332:Dock7	UTSW	4	98,896,280 (GRCm39)	missense
R9450:Dock7	UTSW	4	98,861,426 (GRCm39)	missense	unknown
R9584:Dock7	UTSW	4	98,861,481 (GRCm39)	nonsense	probably null
R9631:Dock7	UTSW	4	98,854,560 (GRCm39)	missense	unknown
R9676:Dock7	UTSW	4	98,904,922 (GRCm39)	missense	probably damaging	1.00
R9701:Dock7	UTSW	4	98,846,384 (GRCm39)	missense	unknown
R9723:Dock7	UTSW	4	98,960,660 (GRCm39)	missense
R9723:Dock7	UTSW	4	98,908,270 (GRCm39)	missense
R9727:Dock7	UTSW	4	98,875,568 (GRCm39)	missense	unknown
R9777:Dock7	UTSW	4	98,877,464 (GRCm39)	missense	unknown
R9802:Dock7	UTSW	4	98,846,384 (GRCm39)	missense	unknown
X0027:Dock7	UTSW	4	98,892,090 (GRCm39)	missense	probably damaging	0.99
Z1176:Dock7	UTSW	4	98,833,462 (GRCm39)	missense	unknown

Predicted Primers

PCR Primer
(F):5'- TGGAAGTATTATGTGGGAAGCATTAAC -3'
(R):5'- TGAGGAACGTCTGTGACTGAG -3'

Sequencing Primer
(F):5'- TCAAAGCATTAGCCCAGG -3'
(R):5'- GAACGTCTGTGACTGAGTATACATGC -3'

Posted On

2019-05-13