Mutagenetix > Incidental Mutation

Incidental Mutation 'R5608:Dyrk3'

439370

Institutional Source

Beutler Lab

Gene Symbol

Dyrk3

Ensembl Gene

ENSMUSG00000016526

Gene Name

dual-specificity tyrosine phosphorylation regulated kinase 3

Synonyms

MMRRC Submission

043272-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.283) question?

Stock #

R5608 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

131056178-131065991 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 131056452 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Glycine at position 574 (S574G)

Ref Sequence

ENSEMBL: ENSMUSP00000016670 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000016670] [ENSMUST00000189756]

AlphaFold

Q922Y0

Predicted Effect

probably benign
Transcript: ENSMUST00000016670
AA Change: S574G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000016670
Gene: ENSMUSG00000016526
AA Change: S574G

Domain	Start	End	E-Value	Type
low complexity region	2	14	N/A	INTRINSIC
S_TKc	208	521	2.45e-91	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000189756

SMART Domains

Protein: ENSMUSP00000140050
Gene: ENSMUSG00000016526

Domain	Start	End	E-Value	Type
PDB:4AZF\|A	101	152	3e-18	PDB

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.2%
20x: 94.9%

Validation Efficiency

95% (54/57)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene product belongs to the DYRK family of dual-specificity protein kinases that catalyze autophosphorylation on serine/threonine and tyrosine residues. The members of this family share structural similarity, however, differ in their substrate specificity, suggesting their involvement in different cellular functions. The encoded protein has been shown to autophosphorylate on tyrosine residue and catalyze phosphorylation of histones H3 and H2B in vitro. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a null allele exhibit increased erythropoiesis in response to chemically-induced anemia. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamtsl5	T	C	10: 80,178,781 (GRCm39)	D199G	probably benign	Het
Adgrl1	G	T	8: 84,663,886 (GRCm39)	G1118W	probably damaging	Het
Adgrv1	T	C	13: 81,303,395 (GRCm39)	E117G	probably damaging	Het
Alkbh7	A	T	17: 57,305,446 (GRCm39)	I88F	probably damaging	Het
Ankrd26	C	A	6: 118,488,583 (GRCm39)	D1359Y	probably damaging	Het
Apoo-ps	T	C	13: 107,550,709 (GRCm39)		noncoding transcript	Het
Arfgap2	G	A	2: 91,100,547 (GRCm39)	R298H	probably damaging	Het
Birc6	G	A	17: 74,920,539 (GRCm39)	V2109I	probably damaging	Het
Blvrb	C	T	7: 27,158,894 (GRCm39)	P98L	probably benign	Het
Bmpr1b	C	A	3: 141,563,283 (GRCm39)	M220I	possibly damaging	Het
Bpifa1	T	C	2: 153,989,495 (GRCm39)		probably benign	Het
Capn7	A	G	14: 31,092,664 (GRCm39)	Y737C	probably damaging	Het
Cdh13	A	T	8: 119,484,213 (GRCm39)	D158V	probably benign	Het
Cenpe	C	A	3: 134,940,837 (GRCm39)	S662*	probably null	Het
Colec12	T	A	18: 9,848,267 (GRCm39)	D148E	possibly damaging	Het
Dennd5a	C	A	7: 109,518,630 (GRCm39)	E480*	probably null	Het
Dpysl4	T	C	7: 138,678,459 (GRCm39)	V473A	probably damaging	Het
Fchsd1	C	T	18: 38,092,926 (GRCm39)		probably benign	Het
H2-Aa	T	C	17: 34,502,816 (GRCm39)	T117A	possibly damaging	Het
Helq	C	T	5: 100,938,085 (GRCm39)	G454S	probably damaging	Het
Incenp	CGCTGCTGCTGC	CGCTGCTGCTGCTGC	19: 9,871,232 (GRCm39)		probably benign	Het
Ktn1	TTGTTGTCTTTGTGTT	TTGTT	14: 47,971,554 (GRCm39)		probably benign	Het
Lig1	C	A	7: 13,039,933 (GRCm39)	T715N	probably damaging	Het
Lrrc31	C	A	3: 30,743,994 (GRCm39)		probably null	Het
Ltbp2	A	C	12: 84,834,238 (GRCm39)		probably null	Het
Marcks	A	T	10: 37,012,912 (GRCm39)	V41E	probably damaging	Het
Mex3c	T	A	18: 73,723,014 (GRCm39)	M369K	possibly damaging	Het
Msh6	A	G	17: 88,294,329 (GRCm39)	D1028G	probably damaging	Het
Nhlrc3	C	T	3: 53,369,732 (GRCm39)		probably null	Het
Or1n1b	A	G	2: 36,780,527 (GRCm39)	F111S	probably damaging	Het
Or52s1b	T	C	7: 102,822,056 (GRCm39)	T263A	probably damaging	Het
Or52z12	G	A	7: 103,233,506 (GRCm39)	W92*	probably null	Het
Or8b8	G	A	9: 37,809,078 (GRCm39)	C126Y	probably damaging	Het
Pcdhga6	A	G	18: 37,840,514 (GRCm39)	N78S	possibly damaging	Het
Plag1	T	A	4: 3,905,463 (GRCm39)	K76*	probably null	Het
Ptpn21	T	A	12: 98,655,036 (GRCm39)	T644S	probably benign	Het
Qrfpr	A	G	3: 36,235,114 (GRCm39)	V292A	possibly damaging	Het
Rbbp6	T	A	7: 122,596,309 (GRCm39)	V617E	probably damaging	Het
Rnf157	A	T	11: 116,287,146 (GRCm39)		probably null	Het
Serpina5	A	C	12: 104,070,003 (GRCm39)	Y300S	probably damaging	Het
Slc41a3	A	G	6: 90,617,889 (GRCm39)	K279R	probably benign	Het
Smndc1	A	G	19: 53,372,084 (GRCm39)	V110A	probably benign	Het
Spata31e2	T	C	1: 26,722,129 (GRCm39)	Q1017R	probably damaging	Het
Tubgcp6	A	G	15: 88,995,353 (GRCm39)	V419A	probably benign	Het
Uggt2	C	T	14: 119,326,611 (GRCm39)	G200D	possibly damaging	Het
Utrn	A	T	10: 12,547,581 (GRCm39)	S1620T	probably benign	Het
Xkr4	T	C	1: 3,741,603 (GRCm39)		probably benign	Het
Zscan22	G	A	7: 12,640,919 (GRCm39)	G388S	probably damaging	Het

Other mutations in Dyrk3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00693:Dyrk3	APN	1	131,064,074 (GRCm39)	missense	possibly damaging	0.71
IGL00910:Dyrk3	APN	1	131,064,073 (GRCm39)	missense	possibly damaging	0.92
IGL02436:Dyrk3	APN	1	131,056,602 (GRCm39)	missense	probably benign	0.00
IGL03057:Dyrk3	APN	1	131,056,815 (GRCm39)	missense	probably benign	0.01
PIT4576001:Dyrk3	UTSW	1	131,057,918 (GRCm39)	missense	probably damaging	0.98
R0116:Dyrk3	UTSW	1	131,057,576 (GRCm39)	missense	probably damaging	1.00
R0361:Dyrk3	UTSW	1	131,057,769 (GRCm39)	missense	probably benign	0.00
R0457:Dyrk3	UTSW	1	131,064,094 (GRCm39)	missense	possibly damaging	0.94
R0529:Dyrk3	UTSW	1	131,057,858 (GRCm39)	missense	probably benign	0.00
R0724:Dyrk3	UTSW	1	131,057,877 (GRCm39)	missense	probably benign	0.00
R1116:Dyrk3	UTSW	1	131,056,919 (GRCm39)	missense	probably damaging	1.00
R2999:Dyrk3	UTSW	1	131,057,183 (GRCm39)	missense	probably damaging	1.00
R3423:Dyrk3	UTSW	1	131,057,219 (GRCm39)	missense	probably damaging	1.00
R4591:Dyrk3	UTSW	1	131,057,895 (GRCm39)	missense	probably damaging	1.00
R5358:Dyrk3	UTSW	1	131,057,432 (GRCm39)	missense	probably damaging	1.00
R6767:Dyrk3	UTSW	1	131,057,327 (GRCm39)	missense	probably damaging	0.99
R7072:Dyrk3	UTSW	1	131,057,465 (GRCm39)	missense	probably damaging	1.00
R7744:Dyrk3	UTSW	1	131,057,543 (GRCm39)	missense	probably damaging	1.00
R7775:Dyrk3	UTSW	1	131,057,364 (GRCm39)	missense	possibly damaging	0.84
R7909:Dyrk3	UTSW	1	131,057,324 (GRCm39)	missense	probably damaging	1.00
R7961:Dyrk3	UTSW	1	131,063,995 (GRCm39)	critical splice donor site	probably null
R8009:Dyrk3	UTSW	1	131,063,995 (GRCm39)	critical splice donor site	probably null
R8298:Dyrk3	UTSW	1	131,057,112 (GRCm39)	missense	probably damaging	1.00
R8930:Dyrk3	UTSW	1	131,057,293 (GRCm39)	missense	probably damaging	1.00
R8932:Dyrk3	UTSW	1	131,057,293 (GRCm39)	missense	probably damaging	1.00
Z1088:Dyrk3	UTSW	1	131,056,970 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

Posted On

2016-10-26