Mutagenetix > Incidental Mutation

Incidental Mutation 'R7618:Dok1'

588996

Institutional Source

Beutler Lab

Gene Symbol

Dok1

Ensembl Gene

ENSMUSG00000068335

Gene Name

docking protein 1

Synonyms

p62DOK

MMRRC Submission

045685-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.142) question?

Stock #

R7618 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

83007915-83010448 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 83009872 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 79 (E79G)

Ref Sequence

ENSEMBL: ENSMUSP00000087079 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000000707] [ENSMUST00000089651] [ENSMUST00000101257] [ENSMUST00000113980] [ENSMUST00000149918]

AlphaFold

P97465

PDB Structure

Crystal Structure of Dok1 PTB Domain [X-RAY DIFFRACTION]
Crystal Structure of Dok1 PTB Domain Complex [X-RAY DIFFRACTION]

Predicted Effect

probably benign
Transcript: ENSMUST00000000707

SMART Domains

Protein: ENSMUSP00000000707
Gene: ENSMUSG00000000693

Domain	Start	End	E-Value	Type
signal peptide	1	26	N/A	INTRINSIC
SR	45	146	2.1e-50	SMART
SR	170	283	1.09e-25	SMART
SR	308	408	3.72e-51	SMART
SR	418	526	8.5e-37	SMART
Pfam:Lysyl_oxidase	530	730	3.9e-103	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000089651
AA Change: E79G

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000087079
Gene: ENSMUSG00000068335
AA Change: E79G

Domain	Start	End	E-Value	Type
PH	4	121	1.31e-8	SMART
IRS	151	254	1.21e-45	SMART
PTBI	152	254	3.84e-59	SMART
low complexity region	411	424	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000101257

SMART Domains

Protein: ENSMUSP00000098815
Gene: ENSMUSG00000000693

Domain	Start	End	E-Value	Type
signal peptide	1	26	N/A	INTRINSIC
SR	45	146	2.1e-50	SMART
SR	170	283	1.09e-25	SMART
SR	308	396	5.46e-17	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000113980

SMART Domains

Protein: ENSMUSP00000109613
Gene: ENSMUSG00000030041

Domain	Start	End	E-Value	Type
low complexity region	151	163	N/A	INTRINSIC
low complexity region	239	250	N/A	INTRINSIC
low complexity region	446	457	N/A	INTRINSIC
low complexity region	482	500	N/A	INTRINSIC
low complexity region	504	512	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000149918

Predicted Effect

probably benign
Transcript: ENSMUST00000204891

Predicted Effect

probably benign
Transcript: ENSMUST00000204900

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.5%

Validation Efficiency

98% (51/52)

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 part of a signal transduction pathway downstream of receptor tyrosine kinases. The encoded protein is a scaffold protein that helps form a platform for the assembly of multiprotein signaling complexes. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2016]
PHENOTYPE: Homozygous null mice display mild abnormalities in myeloid cell proliferation. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akap11	T	C	14: 78,736,300 (GRCm39)	D1830G		Het
Alms1	A	G	6: 85,655,399 (GRCm39)	N2846S	probably benign	Het
Amt	A	C	9: 108,177,077 (GRCm39)	E228D	probably damaging	Het
Ankar	T	C	1: 72,714,925 (GRCm39)	M618V	probably benign	Het
Ankrd60	T	C	2: 173,412,834 (GRCm39)		probably null	Het
Aoc1	A	G	6: 48,883,320 (GRCm39)	T399A	possibly damaging	Het
Aqp11	T	A	7: 97,386,873 (GRCm39)	I108F	probably benign	Het
Arfgef3	G	T	10: 18,522,029 (GRCm39)	Q666K	probably damaging	Het
Bin2	T	A	15: 100,542,894 (GRCm39)	R430W	probably damaging	Het
Brme1	A	G	8: 84,893,499 (GRCm39)	Q222R	possibly damaging	Het
Cdh18	T	A	15: 23,367,056 (GRCm39)	V254D	probably damaging	Het
Cfap46	A	T	7: 139,183,155 (GRCm39)	S159R		Het
Clnk	A	T	5: 38,893,698 (GRCm39)	S220T	probably benign	Het
Col19a1	G	T	1: 24,361,165 (GRCm39)	H608Q	probably benign	Het
Cplx1	C	T	5: 108,673,395 (GRCm39)	E24K	possibly damaging	Het
Dnah3	A	T	7: 119,577,601 (GRCm39)	L2031Q	probably damaging	Het
Eif4g3	T	C	4: 137,898,429 (GRCm39)	S902P	probably damaging	Het
Emilin3	T	A	2: 160,751,199 (GRCm39)	E183D	probably benign	Het
Fam124b	G	A	1: 80,191,554 (GRCm39)		probably benign	Het
Gm9195	T	C	14: 72,690,275 (GRCm39)	Y1816C	probably damaging	Het
Ighv5-9-1	T	A	12: 113,699,819 (GRCm39)	I98F	probably damaging	Het
Il31ra	G	A	13: 112,688,514 (GRCm39)	P21L	possibly damaging	Het
Kat6a	A	G	8: 23,352,578 (GRCm39)	I121V	possibly damaging	Het
Kif11	T	C	19: 37,400,008 (GRCm39)	W832R	probably benign	Het
Klhl9	T	C	4: 88,638,772 (GRCm39)	T490A	possibly damaging	Het
Lars1	G	T	18: 42,377,956 (GRCm39)	A153E	probably benign	Het
Muc5b	A	T	7: 141,421,334 (GRCm39)	I4275L	probably benign	Het
Myo10	T	A	15: 25,726,561 (GRCm39)	C294*	probably null	Het
Nceh1	T	A	3: 27,237,366 (GRCm39)		probably null	Het
Ncf1	T	A	5: 134,256,121 (GRCm39)	T93S	probably benign	Het
Nfatc2	G	A	2: 168,376,919 (GRCm39)	R545C	probably damaging	Het
Nos1	C	T	5: 118,042,009 (GRCm39)	P545S	probably benign	Het
Ogfod3	C	A	11: 121,093,804 (GRCm39)	V69F	probably damaging	Het
Or4a27	A	T	2: 88,559,180 (GRCm39)	Y254*	probably null	Het
Phf12	A	G	11: 77,916,960 (GRCm39)	N272S	unknown	Het
Prkcz	T	A	4: 155,346,939 (GRCm39)	I581F	probably damaging	Het
Rasgrf2	T	C	13: 92,136,085 (GRCm39)	H8R		Het
Rb1cc1	T	A	1: 6,335,782 (GRCm39)		probably null	Het
Rcor2	T	A	19: 7,248,411 (GRCm39)	M186K	possibly damaging	Het
Rnf111	C	A	9: 70,410,614 (GRCm39)		probably benign	Het
Sanbr	A	C	11: 23,534,550 (GRCm39)	C602W	possibly damaging	Het
Serinc3	A	T	2: 163,472,889 (GRCm39)	F247Y	possibly damaging	Het
Serpina1c	T	A	12: 103,865,029 (GRCm39)	I206F	probably damaging	Het
Slc25a10	G	A	11: 120,387,797 (GRCm39)		probably null	Het
Syne2	T	G	12: 75,992,108 (GRCm39)	H1993Q	probably benign	Het
Tap1	A	G	17: 34,407,212 (GRCm39)	Y120C	possibly damaging	Het
Tex30	A	T	1: 44,127,410 (GRCm39)		probably null	Het
Ube2ql1	G	T	13: 69,887,066 (GRCm39)	Q132K	probably benign	Het
Unc13d	T	C	11: 115,957,547 (GRCm39)	N803D	probably damaging	Het
Vcan	G	A	13: 89,840,342 (GRCm39)	S1734F	probably damaging	Het
Wdfy4	T	C	14: 32,707,696 (GRCm39)	Y2630C		Het
Wdr93	A	G	7: 79,435,474 (GRCm39)	T668A	probably benign	Het

Other mutations in Dok1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01652:Dok1	APN	6	83,009,543 (GRCm39)	missense	probably damaging	1.00
IGL01680:Dok1	APN	6	83,008,293 (GRCm39)	missense	possibly damaging	0.91
IGL02076:Dok1	APN	6	83,009,812 (GRCm39)	missense	probably damaging	1.00
IGL02341:Dok1	APN	6	83,010,035 (GRCm39)	missense	probably damaging	1.00
IGL02706:Dok1	APN	6	83,009,315 (GRCm39)	missense	probably damaging	1.00
R0417:Dok1	UTSW	6	83,008,550 (GRCm39)	missense	probably damaging	1.00
R1169:Dok1	UTSW	6	83,009,029 (GRCm39)	missense	possibly damaging	0.90
R1859:Dok1	UTSW	6	83,009,226 (GRCm39)	missense	probably damaging	1.00
R5007:Dok1	UTSW	6	83,009,297 (GRCm39)	missense	probably damaging	1.00
R5048:Dok1	UTSW	6	83,009,087 (GRCm39)	intron	probably benign
R8918:Dok1	UTSW	6	83,008,324 (GRCm39)	missense	probably benign	0.04
R9138:Dok1	UTSW	6	83,009,806 (GRCm39)	missense	probably damaging	1.00
R9248:Dok1	UTSW	6	83,008,893 (GRCm39)	missense	possibly damaging	0.94
R9381:Dok1	UTSW	6	83,009,972 (GRCm39)	missense	probably damaging	1.00
R9448:Dok1	UTSW	6	83,009,972 (GRCm39)	missense	probably damaging	1.00
R9495:Dok1	UTSW	6	83,009,972 (GRCm39)	missense	probably damaging	1.00
R9514:Dok1	UTSW	6	83,009,972 (GRCm39)	missense	probably damaging	1.00
R9516:Dok1	UTSW	6	83,009,972 (GRCm39)	missense	probably damaging	1.00
R9714:Dok1	UTSW	6	83,008,275 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- TAGGTGCAAGAAGTCCAGTGC -3'
(R):5'- TCGTTCTTTCCCAGAGGTGG -3'

Sequencing Primer
(F):5'- GAAGTCCAGTGCCTCTATAATAGCTC -3'
(R):5'- GAGGAAAACTTGGGCTGTGCTTTAC -3'

Posted On

2019-10-24