Mutagenetix > Incidental Mutation

Incidental Mutation 'R8930:Dyrk3'

680220

Institutional Source

Beutler Lab

Gene Symbol

Dyrk3

Ensembl Gene

ENSMUSG00000016526

Gene Name

dual-specificity tyrosine phosphorylation regulated kinase 3

Synonyms

MMRRC Submission

068774-MU

Accession Numbers

Essential gene?

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

Stock #

R8930 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

131056178-131065991 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 131057293 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 293 (D293E)

Ref Sequence

ENSEMBL: ENSMUSP00000016670 (fasta)

Gene Model

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

AlphaFold

Q922Y0

Predicted Effect

probably damaging
Transcript: ENSMUST00000016670
AA Change: D293E

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000016670
Gene: ENSMUSG00000016526
AA Change: D293E

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

Meta Mutation Damage Score

0.4162

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.5%

Validation Efficiency

100% (64/64)

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921524L21Rik	T	C	18: 6,629,693 (GRCm39)		probably null	Het
Abl2	A	G	1: 156,461,402 (GRCm39)	T435A	probably damaging	Het
Adamtsl3	C	T	7: 82,261,069 (GRCm39)	P29S		Het
Ankrd11	C	T	8: 123,622,718 (GRCm39)	R378K	probably damaging	Het
Arap1	G	A	7: 101,057,324 (GRCm39)	R1355Q	possibly damaging	Het
Ass1	T	A	2: 31,382,387 (GRCm39)	M186K	probably damaging	Het
Bckdk	A	G	7: 127,507,182 (GRCm39)	D312G	probably benign	Het
Btg3	T	A	16: 78,170,298 (GRCm39)	N3I	probably benign	Het
Cd163	T	C	6: 124,294,882 (GRCm39)	F649L	probably damaging	Het
Cdh1	ACTCGAAATGATGTGGCTC	ACTC	8: 107,392,870 (GRCm39)		probably benign	Het
Cnksr3	A	T	10: 7,110,780 (GRCm39)	V27E	probably damaging	Het
Col12a1	A	T	9: 79,580,665 (GRCm39)	S1512T	probably benign	Het
Cstf1	A	G	2: 172,217,623 (GRCm39)	T79A	probably benign	Het
Defa24	T	C	8: 22,225,373 (GRCm39)	Y88H	probably benign	Het
Dgkz	C	T	2: 91,769,915 (GRCm39)	R389Q	probably damaging	Het
Dsg3	T	A	18: 20,672,718 (GRCm39)	D796E	probably damaging	Het
Epb42	T	C	2: 120,854,767 (GRCm39)	D606G	probably benign	Het
Erich5	G	A	15: 34,453,844 (GRCm39)	G18S	probably benign	Het
Fam8a1	C	T	13: 46,827,868 (GRCm39)	T352M	probably benign	Het
Fastkd3	T	A	13: 68,731,835 (GRCm39)	L52Q	probably benign	Het
Fat3	G	A	9: 15,910,819 (GRCm39)	H1728Y	probably benign	Het
Fgl1	A	G	8: 41,662,868 (GRCm39)	V39A	probably benign	Het
Gm7298	T	C	6: 121,742,030 (GRCm39)	V484A	probably benign	Het
Gpr75	A	G	11: 30,842,571 (GRCm39)	Q492R	possibly damaging	Het
Hoxc8	A	G	15: 102,899,318 (GRCm39)	H36R	possibly damaging	Het
Insyn2a	A	G	7: 134,500,881 (GRCm39)	I408T	probably damaging	Het
Insyn2b	T	C	11: 34,352,707 (GRCm39)	S250P	probably benign	Het
Isy1	T	C	6: 87,798,513 (GRCm39)	I214V	probably damaging	Het
Kdm5b	C	T	1: 134,544,010 (GRCm39)	P853L	probably damaging	Het
Man2b1	A	G	8: 85,822,022 (GRCm39)	T746A	probably damaging	Het
Mast3	A	T	8: 71,234,377 (GRCm39)		probably benign	Het
Mki67	A	G	7: 135,300,628 (GRCm39)	S1469P	possibly damaging	Het
Mrps30	C	T	13: 118,523,695 (GRCm39)	A26T	probably benign	Het
Mup10	T	A	4: 60,536,708 (GRCm39)	T92S	possibly damaging	Het
Otud7a	A	G	7: 63,407,239 (GRCm39)	D514G	possibly damaging	Het
Pacs1	T	A	19: 5,185,030 (GRCm39)	S932C	probably damaging	Het
Pbx2	C	T	17: 34,813,563 (GRCm39)	R188C	probably damaging	Het
Pclo	C	T	5: 14,762,989 (GRCm39)	P536S	possibly damaging	Het
Pdxdc1	A	T	16: 13,672,269 (GRCm39)	I377N	probably damaging	Het
Peg10	GAT	GATCAT	6: 4,756,449 (GRCm39)		probably benign	Het
Phip	T	C	9: 82,789,041 (GRCm39)	K758E	possibly damaging	Het
Pramel34	T	G	5: 93,785,944 (GRCm39)	D112A	probably benign	Het
Ptprm	C	T	17: 67,263,846 (GRCm39)	R467H	probably benign	Het
Scnn1b	C	T	7: 121,502,067 (GRCm39)	R242C	probably damaging	Het
Seh1l	T	C	18: 67,908,134 (GRCm39)	S19P	possibly damaging	Het
Slc28a1	T	A	7: 80,817,715 (GRCm39)	V528D	probably benign	Het
Slc6a17	G	T	3: 107,379,507 (GRCm39)	Q554K	probably benign	Het
Spag16	G	A	1: 70,338,928 (GRCm39)		probably null	Het
Spata31d1e	C	T	13: 59,890,015 (GRCm39)	E184K	possibly damaging	Het
Srfbp1	T	A	18: 52,623,117 (GRCm39)	N377K	possibly damaging	Het
Stap2	A	G	17: 56,304,895 (GRCm39)	S296P	probably benign	Het
Tnr	A	T	1: 159,740,359 (GRCm39)	I1178F	probably damaging	Het
Tomt	C	T	7: 101,550,350 (GRCm39)	A139T	probably damaging	Het
Trak2	T	C	1: 58,974,967 (GRCm39)	Q75R	probably benign	Het
Tulp1	T	C	17: 28,583,468 (GRCm39)	K58E	probably benign	Het
Utp6	A	G	11: 79,834,055 (GRCm39)		probably null	Het
Vmn1r21	T	C	6: 57,820,998 (GRCm39)	T149A	probably benign	Het
Vmn1r238	C	T	18: 3,123,127 (GRCm39)	V96M	probably benign	Het
Vmn1r9	T	A	6: 57,048,666 (GRCm39)	I247N	probably damaging	Het
Vps33b	T	C	7: 79,932,241 (GRCm39)	C138R	possibly damaging	Het
Wnk1	A	T	6: 119,940,226 (GRCm39)	V837E	probably damaging	Het
Xirp2	C	T	2: 67,312,707 (GRCm39)	H59Y	possibly damaging	Het
Zbtb38	G	T	9: 96,568,434 (GRCm39)	D883E	probably benign	Het
Zbtb7a	C	A	10: 80,980,368 (GRCm39)	D187E	probably benign	Het
Zfp511	T	C	7: 139,617,442 (GRCm39)	V148A	probably damaging	Het
Zfp52	A	G	17: 21,780,692 (GRCm39)	D180G	possibly 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
R5608:Dyrk3	UTSW	1	131,056,452 (GRCm39)	missense	probably benign
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
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

PCR Primer
(F):5'- GCTTCTGATACTCGAAGCAGC -3'
(R):5'- CAGTACGTGGCCCTGAAAATG -3'

Sequencing Primer
(F):5'- CTTCTGATACTCGAAGCAGCTGGAG -3'
(R):5'- CCCTGAAAATGGTGCGCAATG -3'

Posted On

2021-08-31