Mutagenetix > Incidental Mutation

Incidental Mutation 'BB015:Dock7'

642846

Institutional Source

Beutler Lab

Gene Symbol

Dock7

Ensembl Gene

ENSMUSG00000028556

Gene Name

dedicator of cytokinesis 7

Synonyms

m, LOC242555, 3110056M06Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

BB015

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

98824908-99009152 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 98889335 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Aspartic acid at position 185 (N185D)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030286] [ENSMUST00000075836] [ENSMUST00000127417] [ENSMUST00000127946] [ENSMUST00000205650]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000030286
AA Change: N901D

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000030286
Gene: ENSMUSG00000028556
AA Change: N901D

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: N901D

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

unknown
Transcript: ENSMUST00000127417
AA Change: N901D

SMART Domains

Protein: ENSMUSP00000117797
Gene: ENSMUSG00000028556
AA Change: N901D

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

Predicted Effect

SMART Domains

Protein: ENSMUSP00000119103
Gene: ENSMUSG00000028556
AA Change: N174D

Domain	Start	End	E-Value	Type
low complexity region	56	66	N/A	INTRINSIC
low complexity region	129	140	N/A	INTRINSIC
low complexity region	155	168	N/A	INTRINSIC

Predicted Effect

SMART Domains

Protein: ENSMUSP00000114204
Gene: ENSMUSG00000028556
AA Change: N185D

Domain	Start	End	E-Value	Type
low complexity region	74	84	N/A	INTRINSIC
low complexity region	147	158	N/A	INTRINSIC
low complexity region	173	186	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000205650
AA Change: N901D

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

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: 30 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrb1	T	A	15: 74,410,170 (GRCm39)	W270R	probably damaging	Het
Adprhl1	C	T	8: 13,298,682 (GRCm39)	V83I	probably damaging	Het
App	A	T	16: 84,775,134 (GRCm39)	V501D	probably benign	Het
Cnot6l	A	G	5: 96,278,927 (GRCm39)	V97A	possibly damaging	Het
Cntrob	A	G	11: 69,191,121 (GRCm39)	L831P	probably damaging	Het
Dmbt1	T	C	7: 130,639,620 (GRCm39)	S53P	probably benign	Het
Dnah2	T	C	11: 69,321,661 (GRCm39)	D3833G	probably damaging	Het
Dock4	T	C	12: 40,838,302 (GRCm39)	L1081P	probably damaging	Het
Dsn1	T	C	2: 156,847,932 (GRCm39)		probably benign	Het
Evpl	T	C	11: 116,113,359 (GRCm39)	T1444A	possibly damaging	Het
Fanci	T	C	7: 79,094,459 (GRCm39)	L1130P	probably benign	Het
Fancm	A	G	12: 65,152,898 (GRCm39)	D1118G	unknown	Het
G530012D18Rik	C	G	1: 85,504,935 (GRCm39)	D113E	unknown	Het
Gm11596	A	G	11: 99,683,622 (GRCm39)	V166A	unknown	Het
Gm2696	A	T	10: 77,650,723 (GRCm39)	T70S	unknown	Het
Gm5773	A	G	3: 93,680,997 (GRCm39)	E223G	probably damaging	Het
Madd	T	A	2: 91,007,233 (GRCm39)	D293V	probably damaging	Het
Odam	A	G	5: 88,035,269 (GRCm39)	T78A	possibly damaging	Het
Or52ae9	T	A	7: 103,390,397 (GRCm39)	I17F	probably damaging	Het
Rassf3	A	G	10: 121,252,984 (GRCm39)		probably null	Het
Rftn1	G	T	17: 50,354,408 (GRCm39)	A318D	probably damaging	Het
Rhbdf1	T	C	11: 32,159,898 (GRCm39)	Y826C	possibly damaging	Het
Rnf13	C	A	3: 57,671,729 (GRCm39)	Q14K	probably benign	Het
Sec13	A	G	6: 113,706,601 (GRCm39)	S271P	probably damaging	Het
Sema6c	T	C	3: 95,079,620 (GRCm39)	L638P	probably damaging	Het
Sgsh	T	G	11: 119,238,561 (GRCm39)	H301P	probably benign	Het
Shh	T	C	5: 28,666,404 (GRCm39)	M161V	possibly damaging	Het
Stil	C	T	4: 114,887,198 (GRCm39)	H764Y	probably damaging	Het
Vmn1r203	C	T	13: 22,708,705 (GRCm39)	T162I	probably benign	Het
Zzef1	T	C	11: 72,712,722 (GRCm39)	M214T	probably damaging	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
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
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'- ACATCAGTAGCACAGGTCCC -3'
(R):5'- ATAGCTGTCAATGGATCTTGAGTG -3'

Sequencing Primer
(F):5'- AGGTCCCTCCCACGCTATAG -3'
(R):5'- TGTCAATGGATCTTGAGTGATTTTAC -3'

Posted On

2020-08-01