Mutagenetix > Incidental Mutation

Incidental Mutation 'R7985:Dock1'

651429

Institutional Source

Beutler Lab

Gene Symbol

Dock1

Ensembl Gene

ENSMUSG00000058325

Gene Name

dedicator of cytokinesis 1

Synonyms

D630004B07Rik, 9130006G06Rik, b2b3190Clo, Dock180

MMRRC Submission

046026-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7985 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

134272416-134775376 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 134348683 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Phenylalanine at position 299 (C299F)

Ref Sequence

ENSEMBL: ENSMUSP00000147945 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000084488] [ENSMUST00000211593]

AlphaFold

Q8BUR4

Predicted Effect

possibly damaging
Transcript: ENSMUST00000084488
AA Change: C299F

PolyPhen 2 Score 0.950 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000081531
Gene: ENSMUSG00000058325
AA Change: C299F

Domain	Start	End	E-Value	Type
SH3	12	69	7.57e-17	SMART
Pfam:DOCK_N	72	416	1.7e-113	PFAM
Pfam:DOCK-C2	421	618	1.2e-61	PFAM
low complexity region	628	639	N/A	INTRINSIC
Pfam:DHR-2	1111	1610	3.3e-102	PFAM
low complexity region	1639	1664	N/A	INTRINSIC
low complexity region	1683	1701	N/A	INTRINSIC
low complexity region	1756	1773	N/A	INTRINSIC
low complexity region	1823	1857	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000211593
AA Change: C299F

PolyPhen 2 Score 0.950 (Sensitivity: 0.79; Specificity: 0.95)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.9%

Validation Efficiency

98% (54/55)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the dedicator of cytokinesis protein family. Dedicator of cytokinesis proteins act as guanine nucleotide exchange factors for small Rho family G proteins. The encoded protein regulates the small GTPase Rac, thereby influencing several biological processes, including phagocytosis and cell migration. Overexpression of this gene has also been associated with certain cancers. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2014]
PHENOTYPE: Mice homozygous for a null allele exhibit postnatal lethality associated with abnormal muscle development and failure of lungs to inflate. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932414N04Rik	C	A	2: 68,494,693 (GRCm39)	S77R	unknown	Het
Adamts1	T	C	16: 85,595,002 (GRCm39)	Y582C	probably damaging	Het
Ahnak2	A	T	12: 112,745,398 (GRCm39)	V683E		Het
Allc	T	G	12: 28,603,971 (GRCm39)	T371P	probably damaging	Het
Ankrd12	A	G	17: 66,291,191 (GRCm39)	I1414T	probably benign	Het
Bahcc1	A	G	11: 120,163,717 (GRCm39)	K672E	probably damaging	Het
C3ar1	A	T	6: 122,826,964 (GRCm39)	S418T	probably damaging	Het
Calca	A	G	7: 114,234,413 (GRCm39)	V12A	possibly damaging	Het
Carmil3	A	G	14: 55,734,409 (GRCm39)	E410G	probably benign	Het
Cfh	A	G	1: 140,036,564 (GRCm39)	F680S	probably damaging	Het
Cracd	T	C	5: 76,805,897 (GRCm39)	V123A	unknown	Het
Csf3	G	A	11: 98,593,273 (GRCm39)	G130D	probably damaging	Het
Cuedc1	A	T	11: 88,073,342 (GRCm39)	Q169L	probably benign	Het
Cyp2c66	T	A	19: 39,102,430 (GRCm39)	W20R	probably null	Het
Dguok	C	T	6: 83,457,914 (GRCm39)	E240K	probably damaging	Het
Dlg1	T	G	16: 31,606,923 (GRCm39)	Y220*	probably null	Het
Dnah7a	T	C	1: 53,557,886 (GRCm39)	Y2176C	probably damaging	Het
Dnai1	T	C	4: 41,630,055 (GRCm39)	I488T	probably benign	Het
Ebi3	C	T	17: 56,260,997 (GRCm39)	T59M	probably benign	Het
Esrp1	G	A	4: 11,367,153 (GRCm39)	S160F	probably benign	Het
Evi5l	A	G	8: 4,253,536 (GRCm39)	D471G	probably benign	Het
Farp2	T	C	1: 93,504,246 (GRCm39)	F341S	probably damaging	Het
Fbn1	A	G	2: 125,143,798 (GRCm39)	V2777A	probably benign	Het
Glcci1	T	C	6: 8,573,186 (GRCm39)	I225T	probably damaging	Het
Gm3336	A	G	8: 71,173,176 (GRCm39)	T63A	unknown	Het
Gm9767	A	G	10: 25,954,681 (GRCm39)	T78A	unknown	Het
H2-T5	T	G	17: 36,478,445 (GRCm39)	T168P	probably damaging	Het
Habp4	T	A	13: 64,323,860 (GRCm39)	M261K	probably benign	Het
Herc2	A	G	7: 55,814,992 (GRCm39)	T2744A	probably benign	Het
Hlx	A	G	1: 184,464,223 (GRCm39)	V39A	probably benign	Het
Ifi204	G	A	1: 173,587,772 (GRCm39)	T129I	possibly damaging	Het
Itfg1	A	G	8: 86,452,197 (GRCm39)	I534T	probably damaging	Het
Klhl33	A	T	14: 51,128,962 (GRCm39)	C496S	probably benign	Het
Lamb1	T	A	12: 31,350,214 (GRCm39)	V713D	possibly damaging	Het
Mon2	G	T	10: 122,852,213 (GRCm39)	H1052Q	probably damaging	Het
Ndst2	T	C	14: 20,778,478 (GRCm39)		probably null	Het
Nphp1	A	T	2: 127,587,829 (GRCm39)	M582K	probably damaging	Het
Nt5el	C	T	13: 105,256,482 (GRCm39)	T517I	probably benign	Het
Ogfr	AGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCAAAAGGCCAGGTGGAGCCAGAGGACCCAAAAGGCCAGGTGGGGCCAGAAGACCCAAAAGGCCAGGTGGGGCCAGAGGACCCAAAAGGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGGGGCCAGAG	AGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCAAAAGGCCAGGTGGAGCCAGAGGACCCAAAAGGCCAGGTGGGGCCAGAAGACCCAAAAGGCCAGGTGGGGCCAGAGGACCCAAAAGGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGGGGCCAGAG	2: 180,236,850 (GRCm39)		probably benign	Het
Or2w3b	A	G	11: 58,623,532 (GRCm39)	V153A	possibly damaging	Het
Or8b47	T	A	9: 38,435,239 (GRCm39)	D70E	probably damaging	Het
Padi2	A	T	4: 140,659,403 (GRCm39)	H236L	probably benign	Het
Pira2	A	T	7: 3,844,696 (GRCm39)	F445Y	probably benign	Het
Psenen	T	C	7: 30,261,503 (GRCm39)	I75V	probably benign	Het
Pycr1	A	T	11: 120,533,746 (GRCm39)	M37K	probably benign	Het
Rpl4	T	A	9: 64,085,212 (GRCm39)	N317K	probably damaging	Het
Scart2	T	A	7: 139,876,806 (GRCm39)	D732E	probably damaging	Het
Scn8a	T	A	15: 100,914,843 (GRCm39)		probably null	Het
Sdk1	A	G	5: 142,113,602 (GRCm39)	T1550A	probably damaging	Het
Shisa6	G	T	11: 66,265,990 (GRCm39)	T246K		Het
Sis	A	T	3: 72,844,294 (GRCm39)		probably null	Het
Slc22a14	A	C	9: 118,999,704 (GRCm39)	S496A	probably benign	Het
Slc8a3	G	A	12: 81,361,767 (GRCm39)	R351C	probably damaging	Het
Surf2	A	G	2: 26,809,288 (GRCm39)	K202R	probably benign	Het
Tnxb	T	A	17: 34,935,984 (GRCm39)		probably null	Het
Ugt2b36	T	A	5: 87,239,983 (GRCm39)	N134I	probably damaging	Het
Wdr97	T	C	15: 76,245,687 (GRCm39)	V1308A		Het
Xpr1	G	A	1: 155,188,641 (GRCm39)	A333V	possibly damaging	Het
Zfp408	A	T	2: 91,476,776 (GRCm39)	M126K	probably benign	Het
Zfy2	T	C	Y: 2,116,263 (GRCm39)	Q259R	probably benign	Het

Other mutations in Dock1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00484:Dock1	APN	7	134,748,260 (GRCm39)	splice site	probably benign
IGL01319:Dock1	APN	7	134,391,007 (GRCm39)	missense	probably benign
IGL01390:Dock1	APN	7	134,346,776 (GRCm39)	missense	possibly damaging	0.95
IGL01394:Dock1	APN	7	134,367,945 (GRCm39)	missense	probably benign	0.01
IGL01489:Dock1	APN	7	134,601,050 (GRCm39)	splice site	probably benign
IGL01505:Dock1	APN	7	134,760,239 (GRCm39)	missense	possibly damaging	0.91
IGL01586:Dock1	APN	7	134,355,106 (GRCm39)	missense	probably damaging	1.00
IGL01637:Dock1	APN	7	134,739,542 (GRCm39)	critical splice acceptor site	probably null
IGL01649:Dock1	APN	7	134,379,139 (GRCm39)	missense	probably damaging	1.00
IGL01652:Dock1	APN	7	134,379,226 (GRCm39)	splice site	probably benign
IGL01859:Dock1	APN	7	134,678,890 (GRCm39)	missense	possibly damaging	0.51
IGL02068:Dock1	APN	7	134,373,277 (GRCm39)	missense	probably benign	0.26
IGL02168:Dock1	APN	7	134,678,860 (GRCm39)	splice site	probably benign
IGL02200:Dock1	APN	7	134,346,000 (GRCm39)	missense	probably benign	0.01
IGL02244:Dock1	APN	7	134,379,174 (GRCm39)	nonsense	probably null
IGL02285:Dock1	APN	7	134,683,649 (GRCm39)	critical splice donor site	probably null
IGL02319:Dock1	APN	7	134,374,178 (GRCm39)	missense	possibly damaging	0.94
IGL02334:Dock1	APN	7	134,747,294 (GRCm39)	missense	probably damaging	1.00
IGL02338:Dock1	APN	7	134,734,804 (GRCm39)	missense	possibly damaging	0.95
IGL02351:Dock1	APN	7	134,710,548 (GRCm39)	missense	possibly damaging	0.51
IGL02358:Dock1	APN	7	134,710,548 (GRCm39)	missense	possibly damaging	0.51
IGL02607:Dock1	APN	7	134,453,242 (GRCm39)	missense	probably benign	0.13
IGL02638:Dock1	APN	7	134,748,209 (GRCm39)	missense	probably benign	0.09
IGL02724:Dock1	APN	7	134,765,082 (GRCm39)	missense	probably benign
IGL02820:Dock1	APN	7	134,768,944 (GRCm39)	missense	probably benign	0.11
IGL02950:Dock1	APN	7	134,331,753 (GRCm39)	missense	probably damaging	1.00
IGL02993:Dock1	APN	7	134,346,027 (GRCm39)	missense	probably benign
IGL03000:Dock1	APN	7	134,390,969 (GRCm39)	missense	probably benign	0.17
IGL03092:Dock1	APN	7	134,366,945 (GRCm39)	splice site	probably benign
IGL03131:Dock1	APN	7	134,475,912 (GRCm39)	missense	possibly damaging	0.80
IGL03136:Dock1	APN	7	134,770,118 (GRCm39)	missense	probably benign	0.00
IGL03210:Dock1	APN	7	134,358,668 (GRCm39)	missense	possibly damaging	0.62
IGL03220:Dock1	APN	7	134,710,251 (GRCm39)	critical splice donor site	probably null
P0028:Dock1	UTSW	7	134,601,053 (GRCm39)	splice site	probably benign
PIT4453001:Dock1	UTSW	7	134,754,029 (GRCm39)	missense	probably benign
R0003:Dock1	UTSW	7	134,331,793 (GRCm39)	splice site	probably benign
R0058:Dock1	UTSW	7	134,710,490 (GRCm39)	missense	possibly damaging	0.65
R0058:Dock1	UTSW	7	134,710,490 (GRCm39)	missense	possibly damaging	0.65
R0062:Dock1	UTSW	7	134,379,224 (GRCm39)	splice site	probably null
R0062:Dock1	UTSW	7	134,379,224 (GRCm39)	splice site	probably null
R0179:Dock1	UTSW	7	134,700,566 (GRCm39)	missense	probably damaging	0.99
R0180:Dock1	UTSW	7	134,700,566 (GRCm39)	missense	probably damaging	0.99
R0347:Dock1	UTSW	7	134,365,596 (GRCm39)	missense	probably damaging	1.00
R0399:Dock1	UTSW	7	134,765,171 (GRCm39)	missense	probably benign	0.00
R0457:Dock1	UTSW	7	134,739,874 (GRCm39)	missense	possibly damaging	0.90
R0480:Dock1	UTSW	7	134,339,447 (GRCm39)	missense	probably damaging	1.00
R0521:Dock1	UTSW	7	134,745,507 (GRCm39)	missense	probably benign	0.21
R0792:Dock1	UTSW	7	134,475,879 (GRCm39)	missense	probably benign	0.02
R1136:Dock1	UTSW	7	134,449,902 (GRCm39)	missense	possibly damaging	0.95
R1224:Dock1	UTSW	7	134,710,548 (GRCm39)	missense	possibly damaging	0.67
R1267:Dock1	UTSW	7	134,348,165 (GRCm39)	missense	probably damaging	1.00
R1373:Dock1	UTSW	7	134,768,904 (GRCm39)	missense	probably benign	0.01
R1401:Dock1	UTSW	7	134,735,665 (GRCm39)	nonsense	probably null
R1454:Dock1	UTSW	7	134,453,338 (GRCm39)	splice site	probably benign
R1465:Dock1	UTSW	7	134,384,138 (GRCm39)	missense	probably benign	0.00
R1465:Dock1	UTSW	7	134,384,138 (GRCm39)	missense	probably benign	0.00
R1523:Dock1	UTSW	7	134,345,976 (GRCm39)	missense	possibly damaging	0.49
R1643:Dock1	UTSW	7	134,700,508 (GRCm39)	missense	probably damaging	1.00
R1659:Dock1	UTSW	7	134,390,972 (GRCm39)	missense	probably damaging	0.98
R1793:Dock1	UTSW	7	134,700,456 (GRCm39)	splice site	probably null
R1864:Dock1	UTSW	7	134,748,236 (GRCm39)	missense	probably benign	0.07
R1911:Dock1	UTSW	7	134,601,029 (GRCm39)	missense	probably damaging	1.00
R2567:Dock1	UTSW	7	134,747,213 (GRCm39)	missense	probably damaging	1.00
R3816:Dock1	UTSW	7	134,346,015 (GRCm39)	nonsense	probably null
R3971:Dock1	UTSW	7	134,348,637 (GRCm39)	missense	probably damaging	1.00
R4063:Dock1	UTSW	7	134,717,021 (GRCm39)	missense	possibly damaging	0.81
R4163:Dock1	UTSW	7	134,346,051 (GRCm39)	missense	possibly damaging	0.79
R4271:Dock1	UTSW	7	134,335,783 (GRCm39)	missense	probably damaging	0.99
R4684:Dock1	UTSW	7	134,326,138 (GRCm39)	nonsense	probably null
R4717:Dock1	UTSW	7	134,449,899 (GRCm39)	missense	probably damaging	1.00
R4725:Dock1	UTSW	7	134,346,743 (GRCm39)	nonsense	probably null
R4788:Dock1	UTSW	7	134,747,213 (GRCm39)	missense	probably damaging	0.98
R4869:Dock1	UTSW	7	134,335,800 (GRCm39)	missense	probably damaging	1.00
R4889:Dock1	UTSW	7	134,346,705 (GRCm39)	missense	probably benign	0.02
R4953:Dock1	UTSW	7	134,754,017 (GRCm39)	missense	probably benign	0.34
R5031:Dock1	UTSW	7	134,753,975 (GRCm39)	missense	probably benign	0.02
R5161:Dock1	UTSW	7	134,335,791 (GRCm39)	missense	possibly damaging	0.69
R5168:Dock1	UTSW	7	134,720,637 (GRCm39)	missense	probably damaging	1.00
R5212:Dock1	UTSW	7	134,390,923 (GRCm39)	missense	possibly damaging	0.68
R5648:Dock1	UTSW	7	134,348,683 (GRCm39)	missense	probably damaging	1.00
R5685:Dock1	UTSW	7	134,374,091 (GRCm39)	missense	probably benign	0.19
R5834:Dock1	UTSW	7	134,365,662 (GRCm39)	missense	probably damaging	1.00
R6181:Dock1	UTSW	7	134,760,251 (GRCm39)	missense	probably damaging	1.00
R6334:Dock1	UTSW	7	134,453,305 (GRCm39)	missense	probably benign	0.01
R6406:Dock1	UTSW	7	134,747,215 (GRCm39)	missense	probably benign	0.26
R6425:Dock1	UTSW	7	134,765,110 (GRCm39)	missense	possibly damaging	0.79
R6489:Dock1	UTSW	7	134,592,270 (GRCm39)	missense	probably damaging	0.99
R6616:Dock1	UTSW	7	134,710,221 (GRCm39)	missense	possibly damaging	0.85
R6706:Dock1	UTSW	7	134,735,615 (GRCm39)	missense	possibly damaging	0.72
R6766:Dock1	UTSW	7	134,358,522 (GRCm39)	splice site	probably null
R6861:Dock1	UTSW	7	134,373,207 (GRCm39)	missense	probably benign	0.00
R6985:Dock1	UTSW	7	134,765,132 (GRCm39)	missense	possibly damaging	0.95
R7259:Dock1	UTSW	7	134,384,477 (GRCm39)	missense	probably damaging	0.99
R7285:Dock1	UTSW	7	134,346,737 (GRCm39)	missense	probably benign	0.01
R7471:Dock1	UTSW	7	134,765,072 (GRCm39)	missense	possibly damaging	0.65
R7497:Dock1	UTSW	7	134,367,003 (GRCm39)	missense	probably benign
R7691:Dock1	UTSW	7	134,739,886 (GRCm39)	critical splice donor site	probably null
R7732:Dock1	UTSW	7	134,346,699 (GRCm39)	missense	probably benign	0.01
R7818:Dock1	UTSW	7	134,365,594 (GRCm39)	missense	probably damaging	1.00
R7918:Dock1	UTSW	7	134,747,147 (GRCm39)	missense	probably damaging	1.00
R7960:Dock1	UTSW	7	134,678,917 (GRCm39)	missense	possibly damaging	0.83
R7961:Dock1	UTSW	7	134,346,786 (GRCm39)	missense	possibly damaging	0.77
R8009:Dock1	UTSW	7	134,346,786 (GRCm39)	missense	possibly damaging	0.77
R8060:Dock1	UTSW	7	134,592,358 (GRCm39)	splice site	probably benign
R8060:Dock1	UTSW	7	134,770,132 (GRCm39)	missense	probably benign
R8061:Dock1	UTSW	7	134,374,052 (GRCm39)	missense	probably benign	0.00
R8101:Dock1	UTSW	7	134,601,017 (GRCm39)	missense	possibly damaging	0.89
R8405:Dock1	UTSW	7	134,379,192 (GRCm39)	missense	probably benign	0.04
R8508:Dock1	UTSW	7	134,384,138 (GRCm39)	missense	probably benign	0.00
R8803:Dock1	UTSW	7	134,475,816 (GRCm39)	missense	probably benign	0.28
R9007:Dock1	UTSW	7	134,500,825 (GRCm39)	intron	probably benign
R9026:Dock1	UTSW	7	134,720,746 (GRCm39)	missense	probably damaging	0.97
R9111:Dock1	UTSW	7	134,601,017 (GRCm39)	missense	possibly damaging	0.89
R9359:Dock1	UTSW	7	134,770,125 (GRCm39)	missense	probably benign
R9398:Dock1	UTSW	7	134,774,228 (GRCm39)	missense	probably damaging	0.99
R9403:Dock1	UTSW	7	134,770,125 (GRCm39)	missense	probably benign
R9408:Dock1	UTSW	7	134,717,065 (GRCm39)	missense	probably damaging	0.99
R9476:Dock1	UTSW	7	134,592,279 (GRCm39)	missense	probably benign	0.10
R9478:Dock1	UTSW	7	134,367,962 (GRCm39)	missense	probably damaging	1.00
R9510:Dock1	UTSW	7	134,592,279 (GRCm39)	missense	probably benign	0.10
R9544:Dock1	UTSW	7	134,348,186 (GRCm39)	missense	possibly damaging	0.71
R9605:Dock1	UTSW	7	134,384,141 (GRCm39)	missense	possibly damaging	0.49
R9657:Dock1	UTSW	7	134,339,429 (GRCm39)	missense	possibly damaging	0.58
R9767:Dock1	UTSW	7	134,342,796 (GRCm39)	missense	possibly damaging	0.68
X0062:Dock1	UTSW	7	134,710,180 (GRCm39)	missense	probably damaging	1.00
Z1088:Dock1	UTSW	7	134,406,276 (GRCm39)	missense	probably damaging	0.98
Z1177:Dock1	UTSW	7	134,384,129 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- GTCGCTTAGCTCAGTGTCTG -3'
(R):5'- CAGGTGGACTCCAAACTGTACG -3'

Sequencing Primer
(F):5'- AGCTCAGTGTCTGCTGTTAC -3'
(R):5'- AGAACTAAGACATTGTTTTCCCCC -3'

Posted On

2020-09-15