Mutagenetix > Incidental Mutation

Incidental Mutation 'R2424:Dock7'

249474

Institutional Source

Beutler Lab

Gene Symbol

Dock7

Ensembl Gene

ENSMUSG00000028556

Gene Name

dedicator of cytokinesis 7

Synonyms

m, LOC242555, 3110056M06Rik

MMRRC Submission

040386-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2424 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

98824908-99009152 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 98833544 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Stop codon at position 1886 (R1886*)

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 null
Transcript: ENSMUST00000030286
AA Change: R1916*

SMART Domains

Protein: ENSMUSP00000030286
Gene: ENSMUSG00000028556
AA Change: R1916*

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

probably null
Transcript: ENSMUST00000075836
AA Change: R1888*

SMART Domains

Protein: ENSMUSP00000075233
Gene: ENSMUSG00000028556
AA Change: R1888*

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

probably null
Transcript: ENSMUST00000127417
AA Change: R1918*

SMART Domains

Protein: ENSMUSP00000117797
Gene: ENSMUSG00000028556
AA Change: R1918*

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: ENSMUST00000140225

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000205484

Predicted Effect

probably null
Transcript: ENSMUST00000205650
AA Change: R1886*

Predicted Effect

probably benign
Transcript: ENSMUST00000205652

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000206128

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.1%
20x: 94.3%

Validation Efficiency

100% (64/64)

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aacs	A	G	5: 125,590,159 (GRCm39)		probably null	Het
Acot3	G	T	12: 84,100,638 (GRCm39)	R138L	probably damaging	Het
Ago3	A	G	4: 126,298,040 (GRCm39)	V160A	probably damaging	Het
Akap9	A	C	5: 4,115,279 (GRCm39)	E166D	probably damaging	Het
Arid5a	T	C	1: 36,357,582 (GRCm39)	Y136H	probably damaging	Het
Ascc3	T	C	10: 50,494,297 (GRCm39)	V244A	probably benign	Het
Atp10a	A	T	7: 58,444,303 (GRCm39)	H560L	probably benign	Het
Btbd6	A	G	12: 112,941,980 (GRCm39)	T482A	probably benign	Het
Cacna1d	A	T	14: 29,770,980 (GRCm39)	Y1828N	probably damaging	Het
Capzb	A	G	4: 138,921,441 (GRCm39)	M1V	probably null	Het
Cdh9	T	G	15: 16,850,440 (GRCm39)	F524L	probably damaging	Het
Ctnna1	T	C	18: 35,386,760 (GRCm39)	S846P	probably benign	Het
Dab1	C	T	4: 104,588,948 (GRCm39)	A524V	probably benign	Het
Dpp3	A	T	19: 4,957,735 (GRCm39)	L711*	probably null	Het
Dst	T	A	1: 34,206,141 (GRCm39)	I566N	probably damaging	Het
Eif2b3	T	A	4: 116,928,045 (GRCm39)	S421R	probably benign	Het
Epg5	T	C	18: 78,011,828 (GRCm39)	V825A	probably benign	Het
Eya1	T	A	1: 14,341,072 (GRCm39)		probably benign	Het
Fam187a	T	C	11: 102,776,780 (GRCm39)	Y195H	probably damaging	Het
Fbn2	C	T	18: 58,336,859 (GRCm39)	C132Y	probably damaging	Het
Fbxw21	A	T	9: 108,986,587 (GRCm39)	Y97*	probably null	Het
Grin1	A	T	2: 25,208,664 (GRCm39)	C79S	probably null	Het
Haao	T	A	17: 84,142,991 (GRCm39)	Y118F	probably damaging	Het
Il11ra1	T	A	4: 41,768,222 (GRCm39)	S378T	probably damaging	Het
Kcnj5	A	T	9: 32,234,116 (GRCm39)	N66K	probably damaging	Het
Kif21a	T	A	15: 90,855,399 (GRCm39)	N668I	probably damaging	Het
Kprp	A	T	3: 92,732,912 (GRCm39)	L46Q	probably damaging	Het
Lama1	C	T	17: 68,105,660 (GRCm39)	T2056I	probably benign	Het
Madd	G	C	2: 90,996,967 (GRCm39)	D824E	probably damaging	Het
Mapk9	A	G	11: 49,754,499 (GRCm39)	N84S	probably damaging	Het
Mrpl39	A	G	16: 84,527,748 (GRCm39)	V160A	probably benign	Het
Mrpl9	T	C	3: 94,351,113 (GRCm39)	S98P	probably benign	Het
Mybpc3	A	T	2: 90,966,138 (GRCm39)	M1233L	probably benign	Het
Neb	A	G	2: 52,099,671 (GRCm39)		probably benign	Het
Ngly1	A	G	14: 16,290,721 (GRCm38)		probably null	Het
Nt5c1b	A	T	12: 10,420,072 (GRCm39)	T4S	probably damaging	Het
Obscn	T	C	11: 58,885,277 (GRCm39)		probably benign	Het
Or2h2c	T	C	17: 37,422,408 (GRCm39)	I155M	probably benign	Het
Or4k15b	T	C	14: 50,272,281 (GRCm39)	Y193C	probably damaging	Het
Or8b1b	T	C	9: 38,376,128 (GRCm39)	S264P	probably damaging	Het
Or8g53	A	G	9: 39,683,593 (GRCm39)	F168L	probably benign	Het
Otog	A	T	7: 45,947,593 (GRCm39)	K64*	probably null	Het
Papola	A	G	12: 105,793,311 (GRCm39)	T544A	probably benign	Het
Phc1	A	G	6: 122,297,002 (GRCm39)	V790A	probably damaging	Het
Phf3	G	T	1: 30,845,430 (GRCm39)	R1252S	probably damaging	Het
Phf8-ps	T	C	17: 33,284,730 (GRCm39)	T691A	probably benign	Het
Plxna2	C	T	1: 194,431,625 (GRCm39)	S538F	probably damaging	Het
Rgs17	T	A	10: 5,783,111 (GRCm39)	I159F	probably damaging	Het
Rgs17	T	A	10: 5,792,560 (GRCm39)	E62V	probably benign	Het
Rnase1	A	G	14: 51,383,004 (GRCm39)	Y117H	possibly damaging	Het
Rnf214	T	C	9: 45,811,096 (GRCm39)	D189G	probably damaging	Het
Sema4b	A	G	7: 79,869,023 (GRCm39)	N365S	probably damaging	Het
Setd2	A	G	9: 110,446,590 (GRCm39)	H2480R	probably benign	Het
Slc27a6	G	T	18: 58,738,189 (GRCm39)	C415F	probably benign	Het
Stim1	A	G	7: 102,057,612 (GRCm39)	I142V	probably benign	Het
Supt5	T	C	7: 28,014,590 (GRCm39)	I1070V	possibly damaging	Het
Tbp	T	C	17: 15,733,795 (GRCm39)	F174L	possibly damaging	Het
Tex26	A	G	5: 149,393,913 (GRCm39)		probably benign	Het
Tmem132d	A	G	5: 127,941,663 (GRCm39)	V479A	probably benign	Het
Ttn	T	C	2: 76,711,489 (GRCm39)		probably benign	Het
Urb2	T	A	8: 124,757,165 (GRCm39)	N957K	probably benign	Het
Usp24	T	C	4: 106,256,310 (GRCm39)		probably null	Het
Vmn2r114	T	C	17: 23,515,842 (GRCm39)	T550A	possibly damaging	Het
Vmn2r72	A	G	7: 85,400,161 (GRCm39)	V296A	probably damaging	Het
Vmn2r91	C	A	17: 18,356,431 (GRCm39)	Y699*	probably null	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
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'- AGTTCACAGTGTGACTAGGC -3'
(R):5'- GGTAGGCTGATTACATCCTCATG -3'

Sequencing Primer
(F):5'- ACCTCTTCTTTGTGAGTGACATTGAC -3'
(R):5'- GATACTCGATTGTGCCTTTGAAGAC -3'

Posted On

2014-11-12