Incidental Mutation 'R6396:Dyrk1a'
| ID |
516019 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dyrk1a
|
| Ensembl Gene |
ENSMUSG00000022897 |
| Gene Name |
dual-specificity tyrosine phosphorylation regulated kinase 1a |
| Synonyms |
2310043O08Rik, Dyrk, D16Ertd272e, D16Ertd493e, Mnbh |
| MMRRC Submission |
044544-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6396 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
16 |
| Chromosomal Location |
94370869-94496376 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 94472299 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Lysine
at position 230
(Q230K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000112853
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023614]
[ENSMUST00000119878]
[ENSMUST00000122284]
[ENSMUST00000155791]
|
| AlphaFold |
Q61214 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000023614
AA Change: Q268K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000023614
Gene: ENSMUSG00000022897
AA Change: Q268K
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
136 |
147 |
N/A |
INTRINSIC |
|
S_TKc
|
159 |
479 |
6.63e-79 |
SMART |
|
low complexity region
|
502 |
525 |
N/A |
INTRINSIC |
|
low complexity region
|
599 |
620 |
N/A |
INTRINSIC |
|
low complexity region
|
650 |
672 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000119878
AA Change: Q268K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000113660
Gene: ENSMUSG00000022897
AA Change: Q268K
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
136 |
147 |
N/A |
INTRINSIC |
|
S_TKc
|
159 |
479 |
6.63e-79 |
SMART |
|
low complexity region
|
502 |
525 |
N/A |
INTRINSIC |
|
low complexity region
|
599 |
620 |
N/A |
INTRINSIC |
|
low complexity region
|
650 |
672 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000122284
AA Change: Q230K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000112853
Gene: ENSMUSG00000022897
AA Change: Q230K
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
127 |
138 |
N/A |
INTRINSIC |
|
S_TKc
|
150 |
470 |
6.63e-79 |
SMART |
|
low complexity region
|
493 |
516 |
N/A |
INTRINSIC |
|
low complexity region
|
590 |
611 |
N/A |
INTRINSIC |
|
low complexity region
|
641 |
663 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134383
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000155791
|
| SMART Domains |
Protein: ENSMUSP00000119669
Gene: ENSMUSG00000022897
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:3ANR|D
|
126 |
181 |
6e-21 |
PDB |
|
SCOP:d1howa_
|
147 |
179 |
4e-7 |
SMART |
|
Blast:S_TKc
|
159 |
181 |
5e-6 |
BLAST |
|
| Meta Mutation Damage Score |
0.9276 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 97.9%
|
| Validation Efficiency |
100% (36/36) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the Dual-specificity tyrosine phosphorylation-regulated kinase (DYRK) family. This member contains a nuclear targeting signal sequence, a protein kinase domain, a leucine zipper motif, and a highly conservative 13-consecutive-histidine repeat. It catalyzes its autophosphorylation on serine/threonine and tyrosine residues. It may play a significant role in a signaling pathway regulating cell proliferation and may be involved in brain development. This gene is a homolog of Drosophila mnb (minibrain) gene and rat Dyrk gene. It is localized in the Down syndrome critical region of chromosome 21, and is considered to be a strong candidate gene for learning defects associated with Down syndrome. Alternative splicing of this gene generates several transcript variants differing from each other either in the 5' UTR or in the 3' coding region. These variants encode at least five different isoforms. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a targeted deletion present a general embryonic growth delay and die during midgestation. Heterozygotes display reduced postnatal survival, postnatal growth retardation, microcephaly, behavioral and motor deficits, and altered neocortical pyramidal cell morphology. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arhgap35 |
A |
T |
7: 16,296,224 (GRCm39) |
I947K |
probably damaging |
Het |
| B3galnt2 |
A |
T |
13: 14,170,333 (GRCm39) |
I447F |
probably damaging |
Het |
| Cacna2d3 |
C |
A |
14: 29,118,522 (GRCm39) |
V134L |
probably benign |
Het |
| Clcn4 |
C |
T |
7: 7,297,024 (GRCm39) |
G145S |
probably damaging |
Het |
| Cndp1 |
A |
T |
18: 84,650,135 (GRCm39) |
M186K |
probably benign |
Het |
| Cntn6 |
A |
G |
6: 104,627,461 (GRCm39) |
Y98C |
probably damaging |
Het |
| Ctsb |
T |
C |
14: 63,375,550 (GRCm39) |
V172A |
probably benign |
Het |
| Dnase1l1 |
C |
T |
X: 73,320,644 (GRCm39) |
|
probably null |
Homo |
| Ech1 |
C |
T |
7: 28,529,763 (GRCm39) |
|
probably null |
Het |
| Fam81b |
T |
A |
13: 76,399,968 (GRCm39) |
R97W |
probably damaging |
Het |
| Heatr1 |
A |
G |
13: 12,420,978 (GRCm39) |
E423G |
possibly damaging |
Het |
| Hydin |
A |
T |
8: 111,233,521 (GRCm39) |
K1786N |
probably damaging |
Het |
| Igf2r |
T |
C |
17: 12,932,977 (GRCm39) |
I848M |
probably benign |
Het |
| Igkv10-96 |
G |
A |
6: 68,608,969 (GRCm39) |
Q109* |
probably null |
Het |
| Mup6 |
T |
C |
4: 60,004,837 (GRCm39) |
I76T |
possibly damaging |
Het |
| Nmt2 |
A |
G |
2: 3,315,738 (GRCm39) |
R243G |
probably benign |
Het |
| Nsd1 |
G |
A |
13: 55,386,602 (GRCm39) |
G119D |
probably damaging |
Het |
| Or1ad8 |
A |
G |
11: 50,898,312 (GRCm39) |
H171R |
possibly damaging |
Het |
| Or4c113 |
A |
G |
2: 88,885,641 (GRCm39) |
I43T |
probably benign |
Het |
| Or4c120 |
T |
G |
2: 89,001,034 (GRCm39) |
D174A |
probably damaging |
Het |
| Or51ab3 |
C |
T |
7: 103,201,888 (GRCm39) |
Q299* |
probably null |
Het |
| Otx1 |
C |
A |
11: 21,947,037 (GRCm39) |
A91S |
probably damaging |
Het |
| Pank3 |
T |
C |
11: 35,669,516 (GRCm39) |
V250A |
probably damaging |
Het |
| Pcdh10 |
A |
G |
3: 45,334,495 (GRCm39) |
I270V |
possibly damaging |
Het |
| Pnp2 |
T |
A |
14: 51,200,616 (GRCm39) |
V94E |
probably damaging |
Het |
| Prdm10 |
T |
C |
9: 31,229,842 (GRCm39) |
V86A |
possibly damaging |
Het |
| Resf1 |
A |
G |
6: 149,229,417 (GRCm39) |
D821G |
probably damaging |
Het |
| Riox1 |
G |
A |
12: 83,998,087 (GRCm39) |
D208N |
possibly damaging |
Het |
| Rrp15 |
A |
G |
1: 186,469,783 (GRCm39) |
|
probably null |
Het |
| Skor1 |
G |
T |
9: 63,052,232 (GRCm39) |
P579Q |
probably damaging |
Het |
| Slc44a4 |
T |
A |
17: 35,147,860 (GRCm39) |
Y481* |
probably null |
Het |
| Smg7 |
A |
T |
1: 152,724,351 (GRCm39) |
V610E |
probably benign |
Het |
| Tlx1 |
A |
G |
19: 45,144,491 (GRCm39) |
Q71R |
probably damaging |
Het |
| Vmn2r27 |
A |
T |
6: 124,201,125 (GRCm39) |
Y277* |
probably null |
Het |
| Zswim2 |
T |
A |
2: 83,754,062 (GRCm39) |
R199S |
probably damaging |
Het |
|
| Other mutations in Dyrk1a |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01443:Dyrk1a
|
APN |
16 |
94,485,943 (GRCm39) |
missense |
probably benign |
0.21 |
|
IGL01599:Dyrk1a
|
APN |
16 |
94,492,743 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
IGL01809:Dyrk1a
|
APN |
16 |
94,460,476 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02201:Dyrk1a
|
APN |
16 |
94,493,008 (GRCm39) |
missense |
probably benign |
0.05 |
|
IGL02345:Dyrk1a
|
APN |
16 |
94,472,221 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
IGL02508:Dyrk1a
|
APN |
16 |
94,486,042 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL02709:Dyrk1a
|
APN |
16 |
94,486,102 (GRCm39) |
missense |
probably benign |
0.08 |
|
IGL02713:Dyrk1a
|
APN |
16 |
94,486,204 (GRCm39) |
splice site |
probably benign |
|
|
R0414:Dyrk1a
|
UTSW |
16 |
94,464,701 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2107:Dyrk1a
|
UTSW |
16 |
94,487,386 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2394:Dyrk1a
|
UTSW |
16 |
94,485,991 (GRCm39) |
missense |
probably benign |
0.02 |
|
R3124:Dyrk1a
|
UTSW |
16 |
94,469,660 (GRCm39) |
splice site |
probably benign |
|
|
R3125:Dyrk1a
|
UTSW |
16 |
94,469,660 (GRCm39) |
splice site |
probably benign |
|
|
R3792:Dyrk1a
|
UTSW |
16 |
94,485,933 (GRCm39) |
missense |
probably benign |
0.31 |
|
R3963:Dyrk1a
|
UTSW |
16 |
94,464,605 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4573:Dyrk1a
|
UTSW |
16 |
94,492,882 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R4652:Dyrk1a
|
UTSW |
16 |
94,492,924 (GRCm39) |
missense |
probably benign |
0.02 |
|
R4965:Dyrk1a
|
UTSW |
16 |
94,492,854 (GRCm39) |
nonsense |
probably null |
|
|
R5326:Dyrk1a
|
UTSW |
16 |
94,487,440 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5540:Dyrk1a
|
UTSW |
16 |
94,486,202 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5593:Dyrk1a
|
UTSW |
16 |
94,460,442 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R6313:Dyrk1a
|
UTSW |
16 |
94,460,373 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R6524:Dyrk1a
|
UTSW |
16 |
94,485,979 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7036:Dyrk1a
|
UTSW |
16 |
94,487,427 (GRCm39) |
missense |
probably benign |
0.09 |
|
R7326:Dyrk1a
|
UTSW |
16 |
94,492,902 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7861:Dyrk1a
|
UTSW |
16 |
94,492,575 (GRCm39) |
nonsense |
probably null |
|
|
R7916:Dyrk1a
|
UTSW |
16 |
94,474,200 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8310:Dyrk1a
|
UTSW |
16 |
94,492,650 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8669:Dyrk1a
|
UTSW |
16 |
94,464,650 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8698:Dyrk1a
|
UTSW |
16 |
94,487,414 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R8920:Dyrk1a
|
UTSW |
16 |
94,460,488 (GRCm39) |
missense |
probably benign |
|
|
R8945:Dyrk1a
|
UTSW |
16 |
94,466,866 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9233:Dyrk1a
|
UTSW |
16 |
94,466,913 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9390:Dyrk1a
|
UTSW |
16 |
94,474,330 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9391:Dyrk1a
|
UTSW |
16 |
94,460,373 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
RF010:Dyrk1a
|
UTSW |
16 |
94,478,422 (GRCm39) |
missense |
probably benign |
|
|
Z1176:Dyrk1a
|
UTSW |
16 |
94,492,621 (GRCm39) |
missense |
probably benign |
0.06 |
|
Z1177:Dyrk1a
|
UTSW |
16 |
94,492,439 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CCAGCGTGTGTAACTTAGGTG -3'
(R):5'- ACCTGTCCAAGATGAACAGC -3'
Sequencing Primer
(F):5'- CGTGTGTAACTTAGGTGAAATTTTC -3'
(R):5'- CTATGGTAAGTCACAAGTCCTAAAGG -3'
|
| Posted On |
2018-05-04 |
Incidental Mutation