Incidental Mutation 'R2999:Dyrk3'
| ID |
257226 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dyrk3
|
| Ensembl Gene |
ENSMUSG00000016526 |
| Gene Name |
dual-specificity tyrosine phosphorylation regulated kinase 3 |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.306)
|
| Stock # |
R2999 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
131056178-131065991 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 131057183 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Asparagine
at position 330
(I330N)
|
| 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: I330N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000016670
Gene: ENSMUSG00000016526
AA Change: I330N
| 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: 99.1%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.1%
|
| Validation Efficiency |
|
| 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: 14 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Cacna1a |
T |
C |
8: 85,294,371 (GRCm39) |
L1178P |
probably damaging |
Het |
| Ccdc162 |
T |
C |
10: 41,456,286 (GRCm39) |
M1619V |
probably benign |
Het |
| Diaph3 |
C |
T |
14: 87,009,530 (GRCm39) |
C1083Y |
probably damaging |
Het |
| Fmn1 |
A |
G |
2: 113,195,439 (GRCm39) |
T380A |
unknown |
Het |
| Inhbe |
T |
C |
10: 127,187,243 (GRCm39) |
T58A |
possibly damaging |
Het |
| Lama2 |
C |
T |
10: 26,865,417 (GRCm39) |
A2914T |
probably benign |
Het |
| Marf1 |
T |
A |
16: 13,960,505 (GRCm39) |
Y513F |
possibly damaging |
Het |
| Nolc1 |
GAGCAGCAGCAGCAGCAGCAGCAGCAGC |
GAGCAGCAGCAGCAGCAGCAGCAGC |
19: 46,071,594 (GRCm39) |
|
probably benign |
Het |
| Ppp1cc |
G |
A |
5: 122,312,151 (GRCm39) |
A306T |
probably benign |
Het |
| Sf1 |
C |
T |
19: 6,424,906 (GRCm39) |
|
probably benign |
Het |
| Tmem121b |
T |
C |
6: 120,469,943 (GRCm39) |
N258S |
possibly damaging |
Het |
| Tmem260 |
T |
A |
14: 48,722,446 (GRCm39) |
L327Q |
possibly damaging |
Het |
| Ttn |
A |
T |
2: 76,641,587 (GRCm39) |
L5176Q |
possibly damaging |
Het |
| Zcchc2 |
A |
G |
1: 105,957,754 (GRCm39) |
M742V |
probably benign |
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 |
|
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 |
|
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 |
PCR Primer
(F):5'- GGGCTGTCCTGTCAAAAGTTC -3'
(R):5'- TGCTAGAAAGTTTCACCTTCCG -3'
Sequencing Primer
(F):5'- AAGCTCCATATGTCGATCGG -3'
(R):5'- TAGAAAGTTTCACCTTCCGGAACC -3'
|
| Posted On |
2015-01-11 |
Incidental Mutation