Mutagenetix > Incidental Mutation

Incidental Mutation 'R8983:Dok3'

683842

Institutional Source

Beutler Lab

Gene Symbol

Dok3

Ensembl Gene

ENSMUSG00000035711

Gene Name

docking protein 3

Synonyms

p62Dok-like protein

MMRRC Submission

068816-MU

Accession Numbers

Essential gene?

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

Stock #

R8983 (G1)

Quality Score

211.009

Status

Validated

Chromosome

Chromosomal Location

55671044-55677109 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 55671535 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 345 (N345K)

Ref Sequence

ENSEMBL: ENSMUSP00000046695 (fasta)

Gene Model

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

AlphaFold

Q9QZK7

Predicted Effect

probably damaging
Transcript: ENSMUST00000047877
AA Change: N345K

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

SMART Domains

Protein: ENSMUSP00000046695
Gene: ENSMUSG00000035711
AA Change: N345K

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: N345K

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.5%

Validation Efficiency

100% (61/61)

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921509C19Rik	A	T	2: 151,313,272 (GRCm39)	F632I	unknown	Het
5730522E02Rik	T	C	11: 25,719,069 (GRCm39)	T26A	unknown	Het
Ablim1	A	T	19: 57,227,644 (GRCm39)	V7E	probably benign	Het
Adcy5	T	G	16: 34,977,232 (GRCm39)	L255R	possibly damaging	Het
Ahnak	C	A	19: 8,981,477 (GRCm39)	N920K	possibly damaging	Het
Arhgef11	A	G	3: 87,640,508 (GRCm39)	K1251E		Het
Astn1	T	A	1: 158,491,700 (GRCm39)		probably null	Het
Atxn2	A	G	5: 121,916,063 (GRCm39)	Y423C	probably damaging	Het
Ccdc180	T	A	4: 45,909,359 (GRCm39)	V509D	possibly damaging	Het
Ccdc80	T	C	16: 44,924,780 (GRCm39)	V638A	possibly damaging	Het
Ccr6	T	G	17: 8,474,878 (GRCm39)	C28G	probably damaging	Het
Cdca7l	A	G	12: 117,828,902 (GRCm39)		probably benign	Het
Cnot3	T	C	7: 3,654,328 (GRCm39)	I52T	probably damaging	Het
Cped1	A	T	6: 22,138,686 (GRCm39)	N555I	probably benign	Het
Cpne6	A	T	14: 55,753,711 (GRCm39)	I390F	probably damaging	Het
Dlec1	A	G	9: 118,957,419 (GRCm39)	D836G	probably benign	Het
Dnah8	T	A	17: 31,070,628 (GRCm39)	V4438D	probably damaging	Het
Eea1	C	T	10: 95,855,741 (GRCm39)	Q593*	probably null	Het
Eif3m	T	C	2: 104,830,139 (GRCm39)	Y351C	possibly damaging	Het
Epha8	G	T	4: 136,665,897 (GRCm39)	L420M	probably damaging	Het
Epn3	T	C	11: 94,386,914 (GRCm39)	E152G	probably damaging	Het
Faf2	A	G	13: 54,769,726 (GRCm39)	S25G	probably benign	Het
Fam83b	A	G	9: 76,400,357 (GRCm39)	S249P	probably damaging	Het
Fgl1	A	T	8: 41,653,496 (GRCm39)	S132R	probably benign	Het
Frem3	A	G	8: 81,395,875 (GRCm39)	E1890G	probably damaging	Het
Gpc5	T	A	14: 115,330,118 (GRCm39)	S94T	unknown	Het
Hectd1	A	G	12: 51,791,410 (GRCm39)	V2584A	probably damaging	Het
Kifc3	G	A	8: 95,833,104 (GRCm39)	A498V	probably damaging	Het
Klra6	T	C	6: 129,999,573 (GRCm39)	T132A	probably benign	Het
Loricrin	T	C	3: 91,988,446 (GRCm39)	Y280C	unknown	Het
Lpin2	C	T	17: 71,553,962 (GRCm39)	A931V	unknown	Het
Lpxn	A	G	19: 12,810,522 (GRCm39)	H322R	probably damaging	Het
Megf9	A	G	4: 70,353,634 (GRCm39)	S391P	probably benign	Het
Mipep	G	A	14: 61,080,702 (GRCm39)	V565I	probably benign	Het
Mmrn1	C	T	6: 60,953,042 (GRCm39)	T441I	probably benign	Het
Mrpl48	T	C	7: 100,223,702 (GRCm39)	N14S	probably benign	Het
Ncald	A	G	15: 37,397,512 (GRCm39)	F56S	probably damaging	Het
Or9g3	T	C	2: 85,584,251 (GRCm39)		probably benign	Het
Pals1	G	A	12: 78,884,298 (GRCm39)	D640N	probably damaging	Het
Plcd3	A	G	11: 102,962,092 (GRCm39)	V703A	possibly damaging	Het
Potefam1	A	G	2: 111,030,701 (GRCm39)	S403P	probably benign	Het
Prss59	A	G	6: 40,897,934 (GRCm39)	S250P	possibly damaging	Het
Qser1	T	C	2: 104,617,702 (GRCm39)	I947V	probably benign	Het
Rdx	G	A	9: 51,974,905 (GRCm39)	A14T	probably damaging	Het
Rnf213	A	G	11: 119,321,175 (GRCm39)	D1211G		Het
Sbpl	T	C	17: 24,172,253 (GRCm39)	D222G	unknown	Het
Scn8a	C	A	15: 100,900,030 (GRCm39)	T703K	possibly damaging	Het
Setbp1	A	G	18: 78,902,459 (GRCm39)	S403P	probably benign	Het
Sfmbt2	A	G	2: 10,409,267 (GRCm39)	S71G	probably damaging	Het
Slc35f3	CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	8: 127,115,775 (GRCm39)		probably benign	Het
Smco3	C	T	6: 136,808,730 (GRCm39)	G48D	possibly damaging	Het
Spag9	T	C	11: 93,958,815 (GRCm39)	S280P	probably benign	Het
Thada	T	C	17: 84,538,515 (GRCm39)	T1498A	probably benign	Het
Tmprss7	T	C	16: 45,481,263 (GRCm39)	D641G	probably damaging	Het
Top6bl	T	C	19: 4,695,714 (GRCm39)	I513V	possibly damaging	Het
Trim43a	A	G	9: 88,464,404 (GRCm39)	D105G	probably benign	Het
Utp14b	T	A	1: 78,643,003 (GRCm39)	N300K	probably benign	Het
Vmn2r83	T	G	10: 79,327,360 (GRCm39)	I656S	probably damaging	Het
Zfp646	A	T	7: 127,480,777 (GRCm39)	M985L	probably benign	Het
Zfp777	A	T	6: 48,006,158 (GRCm39)	L412Q	probably damaging	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
IGL02088:Dok3	APN	13	55,672,183 (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
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

Predicted Primers

PCR Primer
(F):5'- TGATCACCTCTGTCCTGCAG -3'
(R):5'- AGGATTTGAGCTGCCCACTC -3'

Sequencing Primer
(F):5'- ACCAGCTTGGCCTTGATG -3'
(R):5'- TCCCAGAAAGCTGCCTCTAACTG -3'

Posted On

2021-10-11