Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02338:Dock1'

288971

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Dock1

Ensembl Gene

ENSMUSG00000058325

Gene Name

dedicator of cytokinesis 1

Synonyms

D630004B07Rik, 9130006G06Rik, b2b3190Clo, Dock180

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL02338

Quality Score

Status

Chromosome

Chromosomal Location

134272416-134775376 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 134734804 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Phenylalanine at position 1317 (L1317F)

Ref Sequence

ENSEMBL: ENSMUSP00000081531 (fasta)

Gene Model

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

AlphaFold

Q8BUR4

PDB Structure

Solution structure of the SH3 domain of DOCK180 [SOLUTION NMR]

Predicted Effect

possibly damaging
Transcript: ENSMUST00000084488
AA Change: L1317F

PolyPhen 2 Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000081531
Gene: ENSMUSG00000058325
AA Change: L1317F

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

noncoding transcript
Transcript: ENSMUST00000103962

Coding Region Coverage

Validation Efficiency

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ahdc1	G	A	4: 132,789,860 (GRCm39)	C367Y	possibly damaging	Het
AI182371	T	A	2: 34,975,728 (GRCm39)	I279L	probably benign	Het
Ambp	A	T	4: 63,061,934 (GRCm39)	C332S	probably damaging	Het
App	T	C	16: 84,970,407 (GRCm39)	T14A	probably benign	Het
Asap1	A	T	15: 63,995,519 (GRCm39)		probably null	Het
Aurka	T	C	2: 172,201,778 (GRCm39)	R242G	probably benign	Het
BC034090	G	A	1: 155,093,217 (GRCm39)	P747L	probably damaging	Het
Bcl6b	T	C	11: 70,119,918 (GRCm39)	D23G	probably damaging	Het
Cabp2	A	C	19: 4,134,154 (GRCm39)	E42A	possibly damaging	Het
Ccdc14	G	A	16: 34,542,173 (GRCm39)	S557N	probably benign	Het
Ccdc146	G	T	5: 21,524,604 (GRCm39)		probably benign	Het
Cenpf	T	A	1: 189,412,615 (GRCm39)	Q216L	probably damaging	Het
Ces1b	G	A	8: 93,783,675 (GRCm39)	P515L	possibly damaging	Het
Col6a5	A	T	9: 105,755,829 (GRCm39)	N2198K	probably damaging	Het
Csmd2	A	G	4: 128,288,859 (GRCm39)	S1133G	possibly damaging	Het
Cspg5	G	A	9: 110,085,335 (GRCm39)	R502H	probably benign	Het
Cyp2g1	A	G	7: 26,514,229 (GRCm39)		probably benign	Het
Dnajc27	A	G	12: 4,146,229 (GRCm39)	Y86C	probably damaging	Het
Dnm1	T	C	2: 32,202,783 (GRCm39)	D715G	probably damaging	Het
Fanci	T	A	7: 79,083,279 (GRCm39)	Y727*	probably null	Het
Fbxw20	T	A	9: 109,055,046 (GRCm39)	T168S	probably benign	Het
Folh1	A	T	7: 86,385,723 (GRCm39)		probably benign	Het
Gas7	A	T	11: 67,573,557 (GRCm39)	S379C	probably damaging	Het
Gbp2b	A	G	3: 142,309,987 (GRCm39)	E259G	probably benign	Het
Gm8325	T	C	3: 60,784,805 (GRCm39)		noncoding transcript	Het
Gpr75	A	T	11: 30,841,730 (GRCm39)	T212S	probably benign	Het
Itgb4	A	G	11: 115,898,795 (GRCm39)	T1711A	probably damaging	Het
Ly75	T	C	2: 60,184,796 (GRCm39)	S453G	probably benign	Het
Maneal	A	G	4: 124,754,276 (GRCm39)		probably benign	Het
Marco	A	T	1: 120,422,508 (GRCm39)	I58N	possibly damaging	Het
Mtcl1	A	G	17: 66,686,965 (GRCm39)	I647T	probably damaging	Het
Mtfr1l	A	T	4: 134,258,054 (GRCm39)	V56D	probably damaging	Het
Npy1r	G	A	8: 67,156,954 (GRCm39)	V125I	probably damaging	Het
Or1j19	C	T	2: 36,676,557 (GRCm39)	Q7*	probably null	Het
Or52n20	T	C	7: 104,320,888 (GRCm39)		probably benign	Het
Or7g25	A	G	9: 19,159,960 (GRCm39)	L245P	probably damaging	Het
Osmr	A	T	15: 6,867,210 (GRCm39)	L362*	probably null	Het
Pdlim2	T	C	14: 70,411,906 (GRCm39)	D42G	probably damaging	Het
Plcb4	T	A	2: 135,842,100 (GRCm39)	I89N	possibly damaging	Het
Prrc2b	T	A	2: 32,104,047 (GRCm39)	M1175K	probably benign	Het
Pzp	T	A	6: 128,463,133 (GRCm39)	N1423I	probably benign	Het
Retnla	G	A	16: 48,664,561 (GRCm39)	C105Y	probably damaging	Het
Samd8	T	A	14: 21,825,544 (GRCm39)	S167T	possibly damaging	Het
Scg2	A	G	1: 79,414,210 (GRCm39)	M171T	possibly damaging	Het
Slc30a5	A	G	13: 100,939,941 (GRCm39)	V658A	probably damaging	Het
Slc41a2	T	C	10: 83,152,455 (GRCm39)	R7G	possibly damaging	Het
Slc44a2	A	G	9: 21,258,338 (GRCm39)	T500A	probably damaging	Het
Slc44a4	G	T	17: 35,142,786 (GRCm39)	G396V	possibly damaging	Het
Smarca5	A	G	8: 81,446,199 (GRCm39)		probably benign	Het
St8sia6	T	A	2: 13,798,156 (GRCm39)	R34W	probably damaging	Het
Stk-ps2	T	A	1: 46,069,337 (GRCm39)		noncoding transcript	Het
Stn1	T	C	19: 47,502,329 (GRCm39)	Y235C	probably damaging	Het
Tbx15	A	G	3: 99,259,800 (GRCm39)	Y557C	probably damaging	Het
Tgfbr1	G	A	4: 47,393,490 (GRCm39)		probably null	Het
Thsd7b	G	T	1: 129,523,508 (GRCm39)	V181L	probably damaging	Het
Tmpo	G	A	10: 90,999,104 (GRCm39)	R228C	probably benign	Het
Trpm4	T	G	7: 44,976,422 (GRCm39)	R51S	probably damaging	Het
Vmn1r91	A	T	7: 19,835,671 (GRCm39)	T197S	probably damaging	Het
Vmn2r-ps158	T	C	7: 42,697,160 (GRCm39)	I739T	probably damaging	Het
Xrn1	A	G	9: 95,859,880 (GRCm39)	D424G	probably benign	Het
Yap1	A	G	9: 7,962,282 (GRCm39)		probably null	Het
Zer1	T	C	2: 30,003,405 (GRCm39)	D4G	probably damaging	Het
Zfp462	A	T	4: 55,010,292 (GRCm39)	I753F	possibly damaging	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
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
R7985:Dock1	UTSW	7	134,348,683 (GRCm39)	missense	possibly damaging	0.95
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

Posted On

2015-04-16