Mutagenetix > Incidental Mutation

Incidental Mutation 'R5527:Dock7'

501107

Institutional Source

Beutler Lab

Gene Symbol

Dock7

Ensembl Gene

ENSMUSG00000028556

Gene Name

dedicator of cytokinesis 7

Synonyms

m, LOC242555, 3110056M06Rik

MMRRC Submission

043085-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5527 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

98824908-99009152 bp(-) (GRCm39)

Type of Mutation

intron

DNA Base Change (assembly)

C to T at 98842105 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

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

probably benign
Transcript: ENSMUST00000030286

SMART Domains

Protein: ENSMUSP00000030286
Gene: ENSMUSG00000028556

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: E1796K

SMART Domains

Protein: ENSMUSP00000075233
Gene: ENSMUSG00000028556
AA Change: E1796K

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: E1826K

SMART Domains

Protein: ENSMUSP00000117797
Gene: ENSMUSG00000028556
AA Change: E1826K

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

probably benign
Transcript: ENSMUST00000205650

Predicted Effect

unknown
Transcript: ENSMUST00000205652
AA Change: G82E

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000206128

Coding Region Coverage

1x: 98.2%
3x: 97.2%
10x: 94.9%
20x: 89.7%

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc1	T	A	16: 14,278,842 (GRCm39)	Y1051N	probably benign	Het
Bach1	T	C	16: 87,516,433 (GRCm39)	S325P	probably benign	Het
Baz2a	T	C	10: 127,960,786 (GRCm39)	S1529P	probably damaging	Het
Bicd1	T	C	6: 149,396,134 (GRCm39)	L168P	probably damaging	Het
Cat	A	G	2: 103,303,318 (GRCm39)	F153S	probably damaging	Het
Ccnt2	T	C	1: 127,730,401 (GRCm39)	M426T	probably benign	Het
Cdk7	C	T	13: 100,866,980 (GRCm39)	V38I	probably damaging	Het
Cenpj	T	C	14: 56,764,440 (GRCm39)	Y1324C	probably damaging	Het
Cplane2	C	A	4: 140,947,303 (GRCm39)	A228D	probably damaging	Het
Ddx47	C	A	6: 134,988,657 (GRCm39)	A18E	probably benign	Het
Dnah2	G	A	11: 69,328,014 (GRCm39)	Q3370*	probably null	Het
Dnah6	C	T	6: 73,136,212 (GRCm39)	V976I	probably benign	Het
Dpy19l3	A	T	7: 35,413,555 (GRCm39)	I362N	possibly damaging	Het
Fam118a	A	T	15: 84,942,999 (GRCm39)	T343S	probably benign	Het
Fcgbp	T	A	7: 27,793,060 (GRCm39)	D1021E	probably benign	Het
Fkbp1b	T	C	12: 4,883,746 (GRCm39)	Y83C	probably damaging	Het
Flt4	T	C	11: 49,525,581 (GRCm39)	I709T	probably damaging	Het
Gga3	G	T	11: 115,478,262 (GRCm39)	A510D	probably damaging	Het
Heatr1	T	C	13: 12,417,641 (GRCm39)	I264T	probably damaging	Het
Heatr1	T	C	13: 12,419,829 (GRCm39)	I384T	probably benign	Het
Hes2	T	C	4: 152,244,849 (GRCm39)	V106A	probably benign	Het
Igf1r	T	A	7: 67,857,569 (GRCm39)	M1083K	probably damaging	Het
Il7r	A	T	15: 9,513,010 (GRCm39)	D166E	probably benign	Het
Ipo4	G	A	14: 55,869,507 (GRCm39)		probably null	Het
Klk1b26	T	C	7: 43,662,187 (GRCm39)	I15T	probably benign	Het
Krt42	T	C	11: 100,154,121 (GRCm39)		probably benign	Het
Lag3	T	C	6: 124,885,592 (GRCm39)	T263A	probably damaging	Het
Lilra6	T	A	7: 3,917,586 (GRCm39)		probably benign	Het
Lrrc31	T	A	3: 30,745,377 (GRCm39)	H90L	probably damaging	Het
Lvrn	G	A	18: 47,006,870 (GRCm39)	D331N	probably damaging	Het
Me2	A	T	18: 73,924,187 (GRCm39)	W342R	probably damaging	Het
Mob2	A	G	7: 141,563,147 (GRCm39)	F220S	probably damaging	Het
Mroh4	A	G	15: 74,486,865 (GRCm39)	I342T	probably damaging	Het
Naa15	T	C	3: 51,349,368 (GRCm39)	Y46H	probably damaging	Het
Neb	A	G	2: 52,224,465 (GRCm39)	V10A	unknown	Het
Nlrc5	A	G	8: 95,217,044 (GRCm39)	H1011R	probably damaging	Het
Nr1i3	A	G	1: 171,041,921 (GRCm39)	T2A	possibly damaging	Het
Nrros	T	C	16: 31,963,288 (GRCm39)	N207S	probably damaging	Het
Or52m2	A	T	7: 102,263,768 (GRCm39)	S143T	probably benign	Het
Or7c70	C	T	10: 78,683,609 (GRCm39)	V47M	probably benign	Het
Pcare	A	T	17: 72,059,635 (GRCm39)	V14D	probably damaging	Het
Ptprz1	C	T	6: 23,000,052 (GRCm39)	T714I	possibly damaging	Het
Rp1	T	C	1: 4,416,616 (GRCm39)	T1499A	possibly damaging	Het
Rubcn	T	C	16: 32,647,081 (GRCm39)	K771E	probably damaging	Het
Sbds	T	C	5: 130,275,247 (GRCm39)	E227G	possibly damaging	Het
Setd1a	C	T	7: 127,384,801 (GRCm39)	P8S	probably damaging	Het
Sh3tc2	A	G	18: 62,144,932 (GRCm39)	I1129V	probably benign	Het
Spef1	T	A	2: 131,014,661 (GRCm39)	D87V	probably damaging	Het
Supv3l1	C	T	10: 62,265,608 (GRCm39)	R644Q	probably damaging	Het
Thoc6	A	G	17: 23,889,769 (GRCm39)	F51S	probably damaging	Het
Tm4sf19	T	C	16: 32,226,739 (GRCm39)	L176P	probably damaging	Het
Tma16	A	G	8: 66,936,776 (GRCm39)	I17T	possibly damaging	Het
Tpd52l2	G	A	2: 181,143,847 (GRCm39)		probably null	Het
Ube2j1	C	T	4: 33,045,164 (GRCm39)	P146S	probably benign	Het
Ubr4	T	A	4: 139,208,099 (GRCm39)	I4960N	possibly damaging	Het
Usp13	A	G	3: 32,919,987 (GRCm39)	D224G	probably damaging	Het
Uxs1	T	C	1: 43,819,240 (GRCm39)	T188A	probably damaging	Het
Vmn2r12	A	T	5: 109,234,483 (GRCm39)	Y576*	probably null	Het
Vmn2r73	T	C	7: 85,507,575 (GRCm39)	D579G	possibly damaging	Het
Xpr1	T	C	1: 155,165,981 (GRCm39)	N524D	probably benign	Het
Xrn2	A	T	2: 146,871,675 (GRCm39)	I366L	probably benign	Het
Zfp236	A	T	18: 82,676,159 (GRCm39)	V386E	possibly damaging	Het
Zfp292	A	T	4: 34,806,261 (GRCm39)	L2261Q	probably damaging	Het
Zpld1	C	G	16: 55,046,725 (GRCm39)	E415Q	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
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
R7026:Dock7	UTSW	4	98,967,156 (GRCm39)	missense	probably benign
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'- GGACCTCCATATCAGACAGCTC -3'
(R):5'- AGGTTCCCGTGCCCTAAAATG -3'

Sequencing Primer
(F):5'- CCACAGCTAGCACATGT -3'
(R):5'- CGTGCCCTAAAATGCGTACTTAG -3'

Posted On

2017-12-01