Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02088:Dok3'

279308

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

Essential gene?

Probably non essential (E-score: 0.106) question?

Stock #

IGL02088

Quality Score

Status

Chromosome

Chromosomal Location

55671044-55677109 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 55672183 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 165 (V165E)

Ref Sequence

ENSEMBL: ENSMUSP00000153308 (fasta)

Gene Model

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

AlphaFold

Q9QZK7

Predicted Effect

probably damaging
Transcript: ENSMUST00000047877
AA Change: V165E

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000046695
Gene: ENSMUSG00000035711
AA Change: V165E

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: V165E

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000223944

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: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ackr4	T	C	9: 103,976,080 (GRCm39)	E289G	probably damaging	Het
Aldh1l1	A	T	6: 90,557,572 (GRCm39)		probably benign	Het
Ampd3	T	A	7: 110,392,893 (GRCm39)	D220E	probably benign	Het
Ank3	T	C	10: 69,835,203 (GRCm39)	V136A	probably damaging	Het
Atg14	T	C	14: 47,780,316 (GRCm39)	K486R	probably benign	Het
Axin1	A	G	17: 26,407,669 (GRCm39)	I637V	probably benign	Het
Axin2	T	A	11: 108,814,442 (GRCm39)	F110Y	probably damaging	Het
Cdh12	A	T	15: 21,480,425 (GRCm39)	K214*	probably null	Het
Cfap44	A	C	16: 44,271,991 (GRCm39)	E1248A	possibly damaging	Het
Cryba4	A	G	5: 112,398,875 (GRCm39)		probably benign	Het
Cyp2c68	A	G	19: 39,691,965 (GRCm39)		probably benign	Het
Dnah5	G	T	15: 28,459,264 (GRCm39)		probably null	Het
Etl4	A	T	2: 20,811,359 (GRCm39)	R1147S	probably damaging	Het
Fbxl6	G	T	15: 76,420,106 (GRCm39)	C502*	probably null	Het
Gp2	A	T	7: 119,053,692 (GRCm39)	Y90N	probably damaging	Het
H1f7	G	T	15: 98,155,059 (GRCm39)	T30K	probably damaging	Het
Inka1	A	G	9: 107,861,656 (GRCm39)	F220S	probably damaging	Het
Itfg2	A	G	6: 128,388,569 (GRCm39)	V306A	probably benign	Het
Lrig2	T	C	3: 104,374,424 (GRCm39)	Y219C	probably damaging	Het
Mccc1	A	T	3: 36,028,351 (GRCm39)	I485N	probably damaging	Het
Mettl25	A	G	10: 105,659,111 (GRCm39)	F391L	probably damaging	Het
Muc19	C	T	15: 91,775,362 (GRCm39)		noncoding transcript	Het
Muc2	T	C	7: 141,305,241 (GRCm39)	C182R	probably damaging	Het
Nlrp4g	T	C	9: 124,350,453 (GRCm38)		noncoding transcript	Het
Nms	A	G	1: 38,978,358 (GRCm39)		probably benign	Het
Nr3c1	T	C	18: 39,557,444 (GRCm39)	N503S	probably damaging	Het
Or10q12	T	C	19: 13,746,030 (GRCm39)	F108S	probably damaging	Het
Or5h18	A	G	16: 58,847,415 (GRCm39)	L285P	probably damaging	Het
Or7g16	C	T	9: 18,727,219 (GRCm39)	V124I	probably benign	Het
Pcdhb5	G	A	18: 37,455,012 (GRCm39)	S464N	probably benign	Het
Pcgf6	T	C	19: 47,039,243 (GRCm39)	T6A	unknown	Het
Rdx	A	G	9: 51,972,183 (GRCm39)		probably benign	Het
Shmt1	T	C	11: 60,680,479 (GRCm39)	T403A	probably damaging	Het
Slc35d1	A	G	4: 103,068,522 (GRCm39)	F148L	probably benign	Het
Tk1	A	G	11: 117,715,491 (GRCm39)		probably benign	Het
Tnks	T	A	8: 35,307,148 (GRCm39)	I1134F	possibly damaging	Het
Ttn	A	G	2: 76,557,035 (GRCm39)	V29990A	probably damaging	Het
Tut4	A	G	4: 108,369,415 (GRCm39)		probably benign	Het

Other mutations in Dok3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01837:Dok3	APN	13	55,671,383 (GRCm39)	missense	probably damaging	1.00
IGL02218:Dok3	APN	13	55,671,599 (GRCm39)	missense	probably damaging	1.00
IGL02656:Dok3	APN	13	55,676,293 (GRCm39)	missense	probably damaging	0.97
IGL03410:Dok3	APN	13	55,672,044 (GRCm39)	nonsense	probably null
R0601:Dok3	UTSW	13	55,672,076 (GRCm39)	missense	probably benign	0.16
R1306:Dok3	UTSW	13	55,675,261 (GRCm39)	nonsense	probably null
R1749:Dok3	UTSW	13	55,672,168 (GRCm39)	frame shift	probably null
R3684:Dok3	UTSW	13	55,672,306 (GRCm39)	missense	probably damaging	1.00
R4863:Dok3	UTSW	13	55,671,270 (GRCm39)	missense	probably damaging	1.00
R6195:Dok3	UTSW	13	55,671,389 (GRCm39)	missense	probably benign	0.00
R7021:Dok3	UTSW	13	55,672,097 (GRCm39)	missense	probably benign	0.00
R7526:Dok3	UTSW	13	55,675,306 (GRCm39)	missense	probably benign	0.03
R8379:Dok3	UTSW	13	55,671,833 (GRCm39)	missense	probably benign
R8983:Dok3	UTSW	13	55,671,535 (GRCm39)	missense	probably damaging	1.00
R9516:Dok3	UTSW	13	55,672,186 (GRCm39)	missense	probably benign	0.14
R9585:Dok3	UTSW	13	55,672,057 (GRCm39)	missense	probably damaging	1.00

Posted On

2015-04-16