Mutagenetix > Incidental Mutation

Incidental Mutation 'R6360:Dock7'

513055

Institutional Source

Beutler Lab

Gene Symbol

Dock7

Ensembl Gene

ENSMUSG00000028556

Gene Name

dedicator of cytokinesis 7

Synonyms

m, LOC242555, 3110056M06Rik

MMRRC Submission

044510-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6360 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

98824908-99009152 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 98857899 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 1472 (I1472V)

Ref Sequence

ENSEMBL: ENSMUSP00000030286 (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: I1472V

PolyPhen 2 Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000030286
Gene: ENSMUSG00000028556
AA Change: I1472V

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: I1442V

SMART Domains

Protein: ENSMUSP00000075233
Gene: ENSMUSG00000028556
AA Change: I1442V

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

probably benign
Transcript: ENSMUST00000124466

Predicted Effect

unknown
Transcript: ENSMUST00000127417
AA Change: I1472V

SMART Domains

Protein: ENSMUSP00000117797
Gene: ENSMUSG00000028556
AA Change: I1472V

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: I1442V

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

Meta Mutation Damage Score

0.0642

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.3%
20x: 95.2%

Validation Efficiency

98% (59/60)

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arhgap10	G	A	8: 77,985,831 (GRCm39)	Q657*	probably null	Het
Car15	T	C	16: 17,655,930 (GRCm39)	T560A	probably benign	Het
Cass4	C	T	2: 172,274,531 (GRCm39)	H769Y	probably damaging	Het
Cdh6	A	G	15: 13,041,546 (GRCm39)	I506T	possibly damaging	Het
Clstn3	G	T	6: 124,415,388 (GRCm39)	R659S	possibly damaging	Het
Cntnap5b	C	T	1: 100,359,461 (GRCm39)	R695*	probably null	Het
Cpsf1	CCCCTGCATGAGGCAGGTCCC	CCCC	15: 76,481,655 (GRCm39)		probably null	Het
Dab2ip	A	G	2: 35,600,278 (GRCm39)	H355R	probably benign	Het
Dennd2a	C	T	6: 39,470,076 (GRCm39)	A539T	probably benign	Het
Dnajc18	T	C	18: 35,819,762 (GRCm39)	E173G	probably damaging	Het
Esco1	A	T	18: 10,574,931 (GRCm39)	F714I	probably damaging	Het
Fam107a	T	G	14: 8,299,619 (GRCm38)	H73P	probably damaging	Het
Flg	A	G	3: 93,197,908 (GRCm39)		probably benign	Het
Fyn	C	A	10: 39,402,879 (GRCm39)	T217K	possibly damaging	Het
Gbp9	T	C	5: 105,231,596 (GRCm39)	D330G	probably benign	Het
Gin1	T	C	1: 97,720,264 (GRCm39)	S509P	possibly damaging	Het
Gm17067	A	C	7: 42,357,906 (GRCm39)	S199A	probably benign	Het
Grk4	A	T	5: 34,831,881 (GRCm39)	K50M	probably damaging	Het
Inpp4b	A	G	8: 82,629,481 (GRCm39)	H272R	probably benign	Het
Ipo7	T	A	7: 109,626,336 (GRCm39)	L48Q	probably damaging	Het
Kbtbd2	A	G	6: 56,756,191 (GRCm39)	I515T	probably damaging	Het
Kcnu1	T	A	8: 26,351,208 (GRCm39)	S190R	possibly damaging	Het
Kpnb1	T	C	11: 97,064,096 (GRCm39)	N336S	probably benign	Het
Lbr	G	T	1: 181,659,720 (GRCm39)	D158E	probably benign	Het
Mphosph10	T	C	7: 64,039,703 (GRCm39)	Q89R	probably benign	Het
Nectin3	T	A	16: 46,231,472 (GRCm39)	T21S	probably benign	Het
Numb	C	A	12: 83,844,036 (GRCm39)	R383L	probably damaging	Het
Or2p2	A	T	13: 21,256,753 (GRCm39)	N239K	probably damaging	Het
Or9a7	G	T	6: 40,521,647 (GRCm39)	Q89K	possibly damaging	Het
Pcdhb11	A	T	18: 37,555,212 (GRCm39)	I181F	probably benign	Het
Pcgf2	T	A	11: 97,583,235 (GRCm39)		probably null	Het
Pdzd8	T	C	19: 59,289,415 (GRCm39)	T662A	probably benign	Het
Pex13	A	C	11: 23,605,690 (GRCm39)	V180G	probably benign	Het
Pira1	A	T	7: 3,739,503 (GRCm39)	L455Q	probably damaging	Het
Pkp4	T	A	2: 59,045,091 (GRCm39)	V22D	probably benign	Het
Prkn	T	C	17: 12,222,939 (GRCm39)	F363S	probably damaging	Het
Prpf4b	A	C	13: 35,085,416 (GRCm39)	D954A	probably damaging	Het
Rfx8	T	C	1: 39,720,125 (GRCm39)	I317V	probably benign	Het
Rnaseh2b	T	C	14: 62,598,868 (GRCm39)	S198P	probably damaging	Het
Rock1	A	T	18: 10,116,778 (GRCm39)	C453S	possibly damaging	Het
Saxo4	T	C	19: 10,456,845 (GRCm39)	N167D	probably damaging	Het
Scarf1	G	T	11: 75,406,495 (GRCm39)	G260W	probably damaging	Het
Scyl1	T	C	19: 5,810,599 (GRCm39)	E538G	probably damaging	Het
Sec14l5	A	T	16: 4,990,859 (GRCm39)	I267F	probably damaging	Het
Senp6	T	A	9: 80,021,088 (GRCm39)	V256D	probably benign	Het
Sf3b4	G	A	3: 96,084,044 (GRCm39)		probably benign	Het
Ssh1	T	C	5: 114,099,408 (GRCm39)		probably null	Het
Tas2r143	A	C	6: 42,377,769 (GRCm39)	M200L	probably benign	Het
Tbc1d22a	C	T	15: 86,098,830 (GRCm39)	P19S	probably damaging	Het
Tent5b	T	C	4: 133,214,067 (GRCm39)	F313L	probably damaging	Het
Tmc5	T	A	7: 118,233,189 (GRCm39)	M1K	probably null	Het
Tnc	T	C	4: 63,918,970 (GRCm39)	Y1151C	probably damaging	Het
Tshz3	A	G	7: 36,468,866 (GRCm39)	E285G	probably damaging	Het
Txndc11	C	T	16: 10,902,656 (GRCm39)	V664M	probably damaging	Het
Ube2g1	A	T	11: 72,553,908 (GRCm39)	N20Y	probably damaging	Het
Ufl1	T	A	4: 25,265,476 (GRCm39)	I369L	probably benign	Het
Vwf	A	T	6: 125,660,489 (GRCm39)	T2666S	probably benign	Het
Yif1a	A	G	19: 5,142,369 (GRCm39)	M259V	probably benign	Het
Zbtb46	T	C	2: 181,033,248 (GRCm39)	D471G	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
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
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'- AGGCCTTGAATATGACAAACAGATG -3'
(R):5'- AACATGCATGCCCTCAGTG -3'

Sequencing Primer
(F):5'- CAGATGTAGATTTTATAAGCACCCTC -3'
(R):5'- GATGTACAGTGAGAACCTGCCTC -3'

Posted On

2018-04-27