Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02656:Dok3'

302329

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Dok3

Ensembl Gene

ENSMUSG00000035711

Gene Name

docking protein 3

Synonyms

p62Dok-like protein

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.122) question?

Stock #

IGL02656

Quality Score

Status

Chromosome

Chromosomal Location

55523231-55529296 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 55528480 bp

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 12 (I12N)

Ref Sequence

ENSEMBL: ENSMUSP00000153308 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000021956] [ENSMUST00000047877] [ENSMUST00000223563] [ENSMUST00000224765]

Predicted Effect

probably benign
Transcript: ENSMUST00000021956

SMART Domains

Protein: ENSMUSP00000021956
Gene: ENSMUSG00000021494

Domain	Start	End	E-Value	Type
low complexity region	24	32	N/A	INTRINSIC
low complexity region	39	56	N/A	INTRINSIC
low complexity region	95	115	N/A	INTRINSIC
DEXDc	200	411	8.56e-53	SMART
HELICc	446	527	5.99e-34	SMART
ZnF_C2HC	581	597	1.98e-2	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000047877
AA Change: I12N

PolyPhen 2 Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000046695
Gene: ENSMUSG00000035711
AA Change: I12N

Domain	Start	End	E-Value	Type
PH	7	125	3.54e-5	SMART
IRS	157	256	1.61e-41	SMART
PTBI	158	256	2.59e-24	SMART
low complexity region	273	284	N/A	INTRINSIC
low complexity region	304	315	N/A	INTRINSIC
low complexity region	358	376	N/A	INTRINSIC
low complexity region	410	421	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000223563
AA Change: I12N

PolyPhen 2 Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000223944

Predicted Effect

probably benign
Transcript: ENSMUST00000224765

Coding Region Coverage

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for a knock-out allele exhibit increased incidence of lung adenocarcinomas. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 31 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ankrd28	G	T	14: 31,702,240	A981D	possibly damaging	Het
Ccdc69	G	T	11: 55,052,437	Q114K	possibly damaging	Het
Cct5	A	T	15: 31,597,430	D66E	probably damaging	Het
Ces2e	G	T	8: 104,927,056	R42I	possibly damaging	Het
Cib2	T	G	9: 54,545,898	D178A	probably damaging	Het
Cldn7	G	A	11: 69,967,008	V97I	probably benign	Het
Fndc5	T	A	4: 129,139,446	V102E	probably damaging	Het
Gas2	T	C	7: 51,943,744	S191P	probably benign	Het
Herc6	T	A	6: 57,611,836		probably null	Het
Krt18	A	G	15: 102,030,922	T277A	probably benign	Het
Mpp3	A	G	11: 102,008,601	S365P	probably benign	Het
Msmo1	T	C	8: 64,727,872	T3A	probably benign	Het
Olfr1509	G	T	14: 52,450,709	A99S	possibly damaging	Het
Olfr1537	T	A	9: 39,238,160	E88V	probably benign	Het
Olfr394	A	G	11: 73,888,039	F111S	probably damaging	Het
Pex19	C	A	1: 172,130,685	A77E	probably benign	Het
Phf20l1	A	G	15: 66,629,827	D620G	probably damaging	Het
Prr5	A	G	15: 84,699,136	D105G	probably damaging	Het
Rab12	T	A	17: 66,506,054	K88M	probably damaging	Het
Rictor	T	C	15: 6,776,920	V673A	probably damaging	Het
Rps26	A	G	10: 128,625,257	S88P	possibly damaging	Het
Sema5a	T	A	15: 32,631,285	S605T	possibly damaging	Het
Slc35a4	T	C	18: 36,682,447	M110T	probably damaging	Het
Sowahb	T	C	5: 93,043,247	S538G	probably benign	Het
Srrt	T	A	5: 137,299,676		probably benign	Het
Ssbp2	G	A	13: 91,669,752		probably benign	Het
Supt20	C	T	3: 54,708,395	R236W	probably damaging	Het
Tenm4	A	G	7: 96,885,433	D1791G	probably damaging	Het
Tgm6	G	A	2: 130,145,103	G497D	probably damaging	Het
Trim12c	C	T	7: 104,341,203	V356I	probably damaging	Het
Vwce	T	A	19: 10,664,352	I814K	probably benign	Het

Other mutations in Dok3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01837:Dok3	APN	13	55523570	missense	probably damaging	1.00
IGL02088:Dok3	APN	13	55524370	missense	probably damaging	1.00
IGL02218:Dok3	APN	13	55523786	missense	probably damaging	1.00
IGL03410:Dok3	APN	13	55524231	nonsense	probably null
R0601:Dok3	UTSW	13	55524263	missense	probably benign	0.16
R1306:Dok3	UTSW	13	55527448	nonsense	probably null
R1749:Dok3	UTSW	13	55524355	frame shift	probably null
R3684:Dok3	UTSW	13	55524493	missense	probably damaging	1.00
R4863:Dok3	UTSW	13	55523457	missense	probably damaging	1.00
R6195:Dok3	UTSW	13	55523576	missense	probably benign	0.00
R7021:Dok3	UTSW	13	55524284	missense	probably benign	0.00
R7526:Dok3	UTSW	13	55527493	missense	probably benign	0.03
R8379:Dok3	UTSW	13	55524020	missense	probably benign

Posted On

2015-04-16