Mutagenetix > Incidental Mutation

Incidental Mutation 'R7511:Dock7'

582080

Institutional Source

Beutler Lab

Gene Symbol

Dock7

Ensembl Gene

ENSMUSG00000028556

Gene Name

dedicator of cytokinesis 7

Synonyms

m, LOC242555, 3110056M06Rik

MMRRC Submission

045584-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7511 (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 98949519 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Histidine at position 441 (L441H)

Ref Sequence

ENSEMBL: ENSMUSP00000117797 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000030286
AA Change: L441H

PolyPhen 2 Score 0.555 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000030286
Gene: ENSMUSG00000028556
AA Change: L441H

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: L441H

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: L441H

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: L441H

PolyPhen 2 Score 0.314 (Sensitivity: 0.90; Specificity: 0.89)

Meta Mutation Damage Score

0.0869

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

100% (65/65)

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsbg3	A	G	17: 57,189,954 (GRCm39)	K327E	probably damaging	Het
Adamts14	G	A	10: 61,054,307 (GRCm39)	A572V	possibly damaging	Het
Add2	A	G	6: 86,075,597 (GRCm39)	N249D	probably benign	Het
Adgrb2	A	T	4: 129,915,904 (GRCm39)	M1503L	probably benign	Het
Alms1	A	G	6: 85,586,407 (GRCm39)	K421E	unknown	Het
B3galt5	A	G	16: 96,116,916 (GRCm39)	K183R	possibly damaging	Het
Braf	T	C	6: 39,665,187 (GRCm39)	I94M	probably damaging	Het
Cacna1a	A	G	8: 85,294,311 (GRCm39)	E1158G	possibly damaging	Het
Ccdc177	C	A	12: 80,804,457 (GRCm39)	V606L	unknown	Het
Ccdc38	C	A	10: 93,398,662 (GRCm39)	L147I	possibly damaging	Het
Ccdc83	T	C	7: 89,886,130 (GRCm39)	N210D	possibly damaging	Het
Cdh20	T	C	1: 109,925,583 (GRCm39)		probably benign	Het
Coro1b	T	A	19: 4,202,525 (GRCm39)	Y338N	probably damaging	Het
Crlf3	A	C	11: 79,954,812 (GRCm39)		probably null	Het
Crnn	A	T	3: 93,056,723 (GRCm39)	K503M	probably damaging	Het
Cul5	T	A	9: 53,537,269 (GRCm39)	N521I	probably damaging	Het
Cyp2c50	T	A	19: 40,080,634 (GRCm39)		probably null	Het
Dis3	T	C	14: 99,337,042 (GRCm39)	H23R	possibly damaging	Het
Dpp9	A	T	17: 56,512,611 (GRCm39)	M174K	possibly damaging	Het
Dtd1	A	G	2: 144,459,147 (GRCm39)	D57G	probably benign	Het
F3	A	G	3: 121,525,206 (GRCm39)	E149G	probably damaging	Het
Glp2r	C	T	11: 67,648,417 (GRCm39)	R95K	probably damaging	Het
Gpr107	T	A	2: 31,068,358 (GRCm39)	F273L	probably benign	Het
Gria1	A	T	11: 57,174,451 (GRCm39)	I647F	probably damaging	Het
Heatr5a	A	C	12: 51,926,217 (GRCm39)	I1878S	possibly damaging	Het
Hsf2	G	T	10: 57,380,653 (GRCm39)	C230F	probably benign	Het
Igfbp2	T	G	1: 72,891,164 (GRCm39)	M254R	probably damaging	Het
Kifc2	C	A	15: 76,545,537 (GRCm39)	Q95K	possibly damaging	Het
Lnx1	T	G	5: 74,780,972 (GRCm39)	N183T	probably benign	Het
Ltn1	G	T	16: 87,205,716 (GRCm39)	T983K	possibly damaging	Het
Macf1	A	T	4: 123,367,093 (GRCm39)	V2556D	possibly damaging	Het
Map4k3	A	G	17: 80,905,077 (GRCm39)	V738A	possibly damaging	Het
Mtmr12	T	G	15: 12,265,681 (GRCm39)	Y466D	possibly damaging	Het
Musk	A	G	4: 58,333,672 (GRCm39)	I256V	probably benign	Het
Ociad1	T	C	5: 73,452,338 (GRCm39)	F43S	probably damaging	Het
Or10g9b	A	T	9: 39,918,229 (GRCm39)	S5R	possibly damaging	Het
Or4k5	A	G	14: 50,385,713 (GRCm39)	L206P	probably damaging	Het
Pah	G	A	10: 87,390,249 (GRCm39)	A132T	probably damaging	Het
Pak5	G	A	2: 135,925,244 (GRCm39)	S686F	possibly damaging	Het
Pi4kb	T	C	3: 94,896,623 (GRCm39)	S307P	probably benign	Het
Plxna1	T	C	6: 89,318,889 (GRCm39)	T645A	possibly damaging	Het
Pold1	C	T	7: 44,191,614 (GRCm39)	R124K	possibly damaging	Het
Pramel27	T	A	4: 143,573,116 (GRCm39)	I3N	possibly damaging	Het
Prdm10	T	C	9: 31,289,777 (GRCm39)	Y1153H	probably damaging	Het
Ptk2b	T	C	14: 66,391,693 (GRCm39)	N947S	possibly damaging	Het
Rad54b	A	G	4: 11,578,956 (GRCm39)		probably null	Het
S1pr4	A	G	10: 81,335,623 (GRCm39)		probably benign	Het
Sec23b	A	G	2: 144,432,269 (GRCm39)	K760E	probably benign	Het
Sergef	T	A	7: 46,264,170 (GRCm39)	N239I	probably damaging	Het
Serpinb9	C	A	13: 33,192,054 (GRCm39)	N78K	probably benign	Het
Sntb1	G	T	15: 55,511,347 (GRCm39)	F412L	possibly damaging	Het
Stradb	T	A	1: 59,032,108 (GRCm39)	F294L	probably damaging	Het
Ttll11	G	A	2: 35,793,046 (GRCm39)	R266C	probably damaging	Het
Ttn	A	T	2: 76,624,882 (GRCm39)	M15232K	possibly damaging	Het
Tubgcp2	T	C	7: 139,584,793 (GRCm39)	I547M	probably benign	Het
Vgf	C	A	5: 137,060,245 (GRCm39)	P136T	unknown	Het
Vmn1r36	T	A	6: 66,693,914 (GRCm39)		probably benign	Het
Vmn2r102	T	C	17: 19,901,405 (GRCm39)	S511P	probably damaging	Het
Wdr27	C	T	17: 15,103,965 (GRCm39)	V714I	probably benign	Het
Zbed6	T	A	1: 133,586,981 (GRCm39)	I119L	probably benign	Het
Zfp229	A	G	17: 21,964,045 (GRCm39)	S92G	probably benign	Het
Zfp710	C	T	7: 79,732,250 (GRCm39)	Q476*	probably null	Het
Zfp808	A	G	13: 62,320,637 (GRCm39)	N622S	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
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
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'- GAAGTCCTTGACATTATAGACGTGC -3'
(R):5'- ACCTTCCCCAGAAATGGATTCTTG -3'

Sequencing Primer
(F):5'- GACGTGCATAGAATAGTTACCACTC -3'
(R):5'- CCCCAGAAATGGATTCTTGTAGTGC -3'

Posted On

2019-10-17