Mutagenetix > Incidental Mutation

Incidental Mutation 'R9448:Dok1'

714059

Institutional Source

Beutler Lab

Gene Symbol

Dok1

Ensembl Gene

ENSMUSG00000068335

Gene Name

docking protein 1

Synonyms

p62DOK

MMRRC Submission

Accession Numbers

Essential gene?

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

Stock #

R9448 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

83007915-83010448 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 83009972 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 46 (K46E)

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 damaging
Transcript: ENSMUST00000089651
AA Change: K46E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000087079
Gene: ENSMUSG00000068335
AA Change: K46E

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: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2200002D01Rik	CCTTCTCCTTCTTCTCCTTCTTCTCCTTCTTCTCCATCTTCTCCTTCTTC	CCTTCTCCTTCTTCTCCTTCTTCTCCATCTTCTCCTTCTTC	7: 28,947,048 (GRCm39)		probably benign	Het
Adcy1	T	C	11: 7,099,575 (GRCm39)	V685A	possibly damaging	Het
Atg9a	G	T	1: 75,162,849 (GRCm39)	T417K	probably benign	Het
Atp6v1a	T	A	16: 43,931,872 (GRCm39)	K139*	probably null	Het
Baz1b	T	C	5: 135,239,656 (GRCm39)	I252T	probably damaging	Het
Ccdc191	T	A	16: 43,759,338 (GRCm39)	W380R		Het
Cep290	T	G	10: 100,395,546 (GRCm39)	V2118G	probably benign	Het
Crb2	A	G	2: 37,677,773 (GRCm39)	D352G	probably benign	Het
Csmd3	T	C	15: 47,460,315 (GRCm39)	D2581G		Het
Diras2	T	A	13: 52,662,122 (GRCm39)	T62S	possibly damaging	Het
Dmrt1	T	C	19: 25,523,255 (GRCm39)	V202A	possibly damaging	Het
Dph7	A	T	2: 24,861,952 (GRCm39)	K455M	probably damaging	Het
Efcab8	G	C	2: 153,646,861 (GRCm39)	V397L	unknown	Het
Ehbp1	T	C	11: 22,087,881 (GRCm39)	N426S	probably benign	Het
Exo5	A	G	4: 120,778,888 (GRCm39)	W326R	probably damaging	Het
Fam149a	T	A	8: 45,792,411 (GRCm39)		probably null	Het
Flii	T	C	11: 60,606,393 (GRCm39)	N1099S	probably benign	Het
Flvcr1	T	C	1: 190,744,406 (GRCm39)	T381A	possibly damaging	Het
Foxl1	T	C	8: 121,855,608 (GRCm39)	V303A	probably benign	Het
Fsd1l	G	T	4: 53,694,826 (GRCm39)	E427*	probably null	Het
Galnt18	A	T	7: 111,153,649 (GRCm39)	I325N	probably damaging	Het
Gm5478	T	C	15: 101,553,662 (GRCm39)	N274S	probably damaging	Het
Grm7	A	T	6: 111,335,193 (GRCm39)	T535S	probably benign	Het
Heatr5b	T	C	17: 79,068,015 (GRCm39)	D1791G	probably benign	Het
Igkv12-98	T	C	6: 68,548,156 (GRCm39)	I95T	probably damaging	Het
Il1rl2	A	G	1: 40,366,604 (GRCm39)	Y46C	probably benign	Het
Inhca	G	T	9: 103,149,781 (GRCm39)	Q259K	probably benign	Het
Kdr	T	C	5: 76,102,569 (GRCm39)	E1186G	probably benign	Het
Knstrn	T	C	2: 118,644,975 (GRCm39)		probably null	Het
Krt9	TCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCC	TCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCC	11: 100,079,903 (GRCm39)		probably benign	Het
Ltbp1	C	T	17: 75,666,455 (GRCm39)	Q1383*	probably null	Het
Mep1a	T	C	17: 43,805,869 (GRCm39)		probably null	Het
Mep1b	A	G	18: 21,217,199 (GRCm39)	D106G	probably damaging	Het
Moxd2	T	C	6: 40,864,160 (GRCm39)	N90S	probably benign	Het
Ms4a4c	T	A	19: 11,392,317 (GRCm39)		probably null	Het
Nlrp4e	A	T	7: 23,000,956 (GRCm39)	M84L	probably benign	Het
Noc2l	C	A	4: 156,320,781 (GRCm39)	R66S	probably benign	Het
Nox4	A	T	7: 87,045,001 (GRCm39)	L580F	unknown	Het
Numb	A	G	12: 83,888,990 (GRCm39)		probably null	Het
Or1l4	A	G	2: 37,091,221 (GRCm39)		probably benign	Het
Or5w13	A	T	2: 87,523,824 (GRCm39)	V134E	probably damaging	Het
Parp8	T	A	13: 117,039,360 (GRCm39)	K274*	probably null	Het
Pcdh1	G	A	18: 38,330,492 (GRCm39)	P976L	probably damaging	Het
Pcnt	T	C	10: 76,256,360 (GRCm39)	K627E	probably damaging	Het
Pdzk1	A	T	3: 96,761,922 (GRCm39)	D178V	probably damaging	Het
Phldb1	G	T	9: 44,622,546 (GRCm39)	L36M	possibly damaging	Het
Pip5k1c	A	G	10: 81,141,645 (GRCm39)	E111G	probably damaging	Het
Plcb4	G	A	2: 135,752,045 (GRCm39)	E84K	possibly damaging	Het
Prpf39	T	A	12: 65,108,034 (GRCm39)	Y646N	probably benign	Het
Psmc6	T	C	14: 45,568,483 (GRCm39)	F69L	probably benign	Het
Ptk2	T	A	15: 73,215,041 (GRCm39)	S46C	possibly damaging	Het
Ptpn6	G	A	6: 124,709,771 (GRCm39)	R23W	probably damaging	Het
Ptprb	T	A	10: 116,149,819 (GRCm39)	Y143*	probably null	Het
Qrich2	T	C	11: 116,338,091 (GRCm39)	E141G	probably benign	Het
Rsf1	G	GCCGGCGGCT	7: 97,229,116 (GRCm39)		probably benign	Het
Scn5a	A	G	9: 119,381,127 (GRCm39)	L136P	probably damaging	Het
Slc12a6	T	C	2: 112,179,704 (GRCm39)	F676S	probably damaging	Het
Spata31f1a	A	T	4: 42,850,250 (GRCm39)	Y635*	probably null	Het
Spata31f1e	T	C	4: 42,793,440 (GRCm39)	R231G	probably benign	Het
Spata32	C	T	11: 103,099,648 (GRCm39)	G286R	probably damaging	Het
Tbx19	T	C	1: 164,981,090 (GRCm39)	K135E	probably damaging	Het
Tdrd6	T	C	17: 43,936,567 (GRCm39)	T1494A	probably benign	Het
Tmem62	A	C	2: 120,808,211 (GRCm39)	D71A	probably damaging	Het
Tnfsf15	A	T	4: 63,663,305 (GRCm39)	V6D	possibly damaging	Het
Tulp4	T	C	17: 6,248,948 (GRCm39)	V182A	possibly damaging	Het
Vmn2r73	A	T	7: 85,522,027 (GRCm39)	V104D	probably benign	Het
Zdhhc8	C	A	16: 18,039,558 (GRCm39)	G159C		Het
Zfy2	A	G	Y: 2,109,904 (GRCm39)	W338R	probably damaging	Het
Znfx1	T	G	2: 166,888,844 (GRCm39)	Q788P	probably benign	Het
Zscan26	A	G	13: 21,632,431 (GRCm39)	V100A	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
R7618:Dok1	UTSW	6	83,009,872 (GRCm39)	missense	probably benign	0.01
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
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'- CATAAAGTCTGCACCCAGGC -3'
(R):5'- TGGGAAAGTAGCTCAGCCTG -3'

Sequencing Primer
(F):5'- CAGGCGGTGCTGGATAC -3'
(R):5'- AGTAGCTCAGCCTGGGAAGC -3'

Posted On

2022-06-15