Incidental Mutation 'IGL01483:Dyrk1b'
ID |
88693 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Dyrk1b
|
Ensembl Gene |
ENSMUSG00000002409 |
Gene Name |
dual-specificity tyrosine phosphorylation regulated kinase 1b |
Synonyms |
Mirk |
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
IGL01483
|
Quality Score |
|
Status
|
|
Chromosome |
7 |
Chromosomal Location |
27878894-27886719 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 27882101 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 94
(D94G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000133719
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000042405]
[ENSMUST00000085901]
[ENSMUST00000172467]
[ENSMUST00000172761]
|
AlphaFold |
Q9Z188 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000042405
|
SMART Domains |
Protein: ENSMUSP00000037613 Gene: ENSMUSG00000046865
Domain | Start | End | E-Value | Type |
low complexity region
|
8 |
85 |
N/A |
INTRINSIC |
Fibrillarin
|
94 |
321 |
9.92e-176 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000085901
AA Change: D94G
PolyPhen 2
Score 0.962 (Sensitivity: 0.78; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000083064 Gene: ENSMUSG00000002409 AA Change: D94G
Domain | Start | End | E-Value | Type |
low complexity region
|
4 |
16 |
N/A |
INTRINSIC |
low complexity region
|
22 |
41 |
N/A |
INTRINSIC |
S_TKc
|
111 |
431 |
3.75e-78 |
SMART |
low complexity region
|
438 |
454 |
N/A |
INTRINSIC |
low complexity region
|
460 |
477 |
N/A |
INTRINSIC |
low complexity region
|
542 |
561 |
N/A |
INTRINSIC |
low complexity region
|
571 |
591 |
N/A |
INTRINSIC |
low complexity region
|
597 |
615 |
N/A |
INTRINSIC |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000172467
AA Change: D154G
PolyPhen 2
Score 0.934 (Sensitivity: 0.80; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000133431 Gene: ENSMUSG00000002409 AA Change: D154G
Domain | Start | End | E-Value | Type |
low complexity region
|
4 |
16 |
N/A |
INTRINSIC |
low complexity region
|
22 |
41 |
N/A |
INTRINSIC |
S_TKc
|
111 |
431 |
3.75e-78 |
SMART |
low complexity region
|
438 |
454 |
N/A |
INTRINSIC |
low complexity region
|
460 |
477 |
N/A |
INTRINSIC |
low complexity region
|
542 |
561 |
N/A |
INTRINSIC |
low complexity region
|
571 |
591 |
N/A |
INTRINSIC |
low complexity region
|
597 |
615 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000172761
AA Change: D94G
PolyPhen 2
Score 0.962 (Sensitivity: 0.78; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000133719 Gene: ENSMUSG00000002409 AA Change: D94G
Domain | Start | End | E-Value | Type |
low complexity region
|
4 |
16 |
N/A |
INTRINSIC |
low complexity region
|
22 |
41 |
N/A |
INTRINSIC |
S_TKc
|
111 |
391 |
1.52e-78 |
SMART |
low complexity region
|
398 |
414 |
N/A |
INTRINSIC |
low complexity region
|
420 |
437 |
N/A |
INTRINSIC |
low complexity region
|
502 |
521 |
N/A |
INTRINSIC |
low complexity region
|
531 |
551 |
N/A |
INTRINSIC |
low complexity region
|
557 |
575 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000208259
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of a family of nuclear-localized protein kinases. The encoded protein participates in the regulation of the cell cycle. Expression of this gene may be altered in tumor cells, and mutations in this gene were found to cause abdominal obesity-metabolic syndrome 3. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2014]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 34 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1110008E08Rik |
G |
T |
16: 90,351,201 (GRCm39) |
|
noncoding transcript |
Het |
Abcb4 |
T |
C |
5: 8,977,871 (GRCm39) |
I483T |
probably damaging |
Het |
Ank3 |
A |
T |
10: 69,710,639 (GRCm39) |
H388L |
probably damaging |
Het |
Arhgap24 |
T |
C |
5: 103,008,243 (GRCm39) |
Y52H |
possibly damaging |
Het |
Atf7ip |
A |
G |
6: 136,564,457 (GRCm39) |
N900S |
probably damaging |
Het |
Bmp10 |
A |
T |
6: 87,410,933 (GRCm39) |
D242V |
probably damaging |
Het |
Ceacam12 |
A |
G |
7: 17,801,446 (GRCm39) |
R142G |
probably benign |
Het |
Cilp2 |
T |
A |
8: 70,335,496 (GRCm39) |
I501F |
probably damaging |
Het |
Cplane1 |
T |
G |
15: 8,216,591 (GRCm39) |
I603S |
probably damaging |
Het |
Dglucy |
T |
C |
12: 100,819,476 (GRCm39) |
V426A |
probably damaging |
Het |
Efcab3 |
T |
C |
11: 104,630,173 (GRCm39) |
V968A |
probably benign |
Het |
Erbb2 |
C |
T |
11: 98,325,365 (GRCm39) |
R898C |
probably damaging |
Het |
Fbxo7 |
T |
C |
10: 85,880,445 (GRCm39) |
Y298H |
probably damaging |
Het |
Gcg |
T |
C |
2: 62,310,827 (GRCm39) |
D25G |
possibly damaging |
Het |
Helb |
A |
G |
10: 119,947,043 (GRCm39) |
V90A |
probably damaging |
Het |
Krt40 |
T |
A |
11: 99,433,553 (GRCm39) |
E144D |
probably damaging |
Het |
Lpo |
G |
A |
11: 87,711,964 (GRCm39) |
T31I |
probably benign |
Het |
Mc5r |
A |
G |
18: 68,472,315 (GRCm39) |
I225V |
probably damaging |
Het |
Mccc1 |
A |
G |
3: 36,044,009 (GRCm39) |
F245L |
probably damaging |
Het |
Mindy4 |
A |
G |
6: 55,193,670 (GRCm39) |
D121G |
probably damaging |
Het |
Nap1l4 |
A |
T |
7: 143,081,053 (GRCm39) |
|
probably null |
Het |
Noc4l |
T |
A |
5: 110,796,824 (GRCm39) |
K486M |
probably damaging |
Het |
Notum |
T |
C |
11: 120,547,482 (GRCm39) |
D271G |
probably damaging |
Het |
Pan3 |
T |
A |
5: 147,466,783 (GRCm39) |
L550Q |
probably benign |
Het |
Pde4dip |
A |
G |
3: 97,661,465 (GRCm39) |
S594P |
probably damaging |
Het |
Pramel12 |
A |
T |
4: 143,144,047 (GRCm39) |
E131V |
probably damaging |
Het |
Prr23a1 |
T |
G |
9: 98,725,369 (GRCm39) |
S244A |
probably benign |
Het |
Rarb |
T |
C |
14: 16,432,273 (GRCm38) |
|
probably benign |
Het |
Sh3d19 |
A |
G |
3: 86,022,103 (GRCm39) |
D511G |
probably benign |
Het |
Slco6c1 |
T |
C |
1: 97,055,832 (GRCm39) |
N23S |
probably benign |
Het |
Smarcc1 |
G |
T |
9: 110,051,128 (GRCm39) |
G983* |
probably null |
Het |
Tbc1d22a |
A |
T |
15: 86,275,404 (GRCm39) |
Q442L |
probably benign |
Het |
Tuba1b |
A |
G |
15: 98,830,338 (GRCm39) |
Y161H |
possibly damaging |
Het |
Zdhhc14 |
G |
A |
17: 5,762,733 (GRCm39) |
M212I |
probably benign |
Het |
|
Other mutations in Dyrk1b |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01820:Dyrk1b
|
APN |
7 |
27,881,025 (GRCm39) |
utr 5 prime |
probably benign |
|
IGL03155:Dyrk1b
|
APN |
7 |
27,882,112 (GRCm39) |
missense |
probably benign |
0.25 |
R0280:Dyrk1b
|
UTSW |
7 |
27,883,737 (GRCm39) |
missense |
probably damaging |
1.00 |
R0323:Dyrk1b
|
UTSW |
7 |
27,884,781 (GRCm39) |
missense |
probably benign |
0.00 |
R0610:Dyrk1b
|
UTSW |
7 |
27,886,059 (GRCm39) |
missense |
probably damaging |
0.99 |
R0765:Dyrk1b
|
UTSW |
7 |
27,885,136 (GRCm39) |
intron |
probably benign |
|
R1858:Dyrk1b
|
UTSW |
7 |
27,882,071 (GRCm39) |
splice site |
probably null |
|
R2354:Dyrk1b
|
UTSW |
7 |
27,884,797 (GRCm39) |
missense |
possibly damaging |
0.79 |
R4599:Dyrk1b
|
UTSW |
7 |
27,881,856 (GRCm39) |
missense |
probably damaging |
1.00 |
R4655:Dyrk1b
|
UTSW |
7 |
27,885,176 (GRCm39) |
missense |
probably damaging |
0.97 |
R5201:Dyrk1b
|
UTSW |
7 |
27,884,521 (GRCm39) |
missense |
probably damaging |
1.00 |
R5357:Dyrk1b
|
UTSW |
7 |
27,884,743 (GRCm39) |
missense |
possibly damaging |
0.79 |
R5560:Dyrk1b
|
UTSW |
7 |
27,883,678 (GRCm39) |
missense |
possibly damaging |
0.53 |
R6171:Dyrk1b
|
UTSW |
7 |
27,885,975 (GRCm39) |
critical splice acceptor site |
probably null |
|
R6751:Dyrk1b
|
UTSW |
7 |
27,886,134 (GRCm39) |
missense |
probably damaging |
1.00 |
R6901:Dyrk1b
|
UTSW |
7 |
27,884,542 (GRCm39) |
missense |
probably damaging |
1.00 |
R6918:Dyrk1b
|
UTSW |
7 |
27,885,350 (GRCm39) |
missense |
probably damaging |
0.99 |
R7699:Dyrk1b
|
UTSW |
7 |
27,883,737 (GRCm39) |
missense |
probably damaging |
1.00 |
R7700:Dyrk1b
|
UTSW |
7 |
27,883,737 (GRCm39) |
missense |
probably damaging |
1.00 |
R8177:Dyrk1b
|
UTSW |
7 |
27,882,601 (GRCm39) |
missense |
possibly damaging |
0.86 |
R8271:Dyrk1b
|
UTSW |
7 |
27,882,080 (GRCm39) |
missense |
probably benign |
0.02 |
R9241:Dyrk1b
|
UTSW |
7 |
27,886,058 (GRCm39) |
missense |
probably benign |
0.00 |
R9582:Dyrk1b
|
UTSW |
7 |
27,882,028 (GRCm39) |
missense |
probably damaging |
0.99 |
R9644:Dyrk1b
|
UTSW |
7 |
27,881,790 (GRCm39) |
missense |
probably damaging |
0.99 |
R9701:Dyrk1b
|
UTSW |
7 |
27,885,838 (GRCm39) |
missense |
probably damaging |
1.00 |
X0060:Dyrk1b
|
UTSW |
7 |
27,882,575 (GRCm39) |
missense |
probably damaging |
0.98 |
|
Posted On |
2013-11-18 |