Incidental Mutation 'R2354:Dyrk1b'
ID |
246825 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Dyrk1b
|
Ensembl Gene |
ENSMUSG00000002409 |
Gene Name |
dual-specificity tyrosine phosphorylation regulated kinase 1b |
Synonyms |
Mirk |
MMRRC Submission |
040336-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R2354 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
27878894-27886719 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 27884797 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Glutamine
at position 404
(R404Q)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000133431
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000085901]
[ENSMUST00000172467]
[ENSMUST00000172761]
|
AlphaFold |
Q9Z188 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000085901
AA Change: R344Q
PolyPhen 2
Score 0.697 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000083064 Gene: ENSMUSG00000002409 AA Change: R344Q
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: R404Q
PolyPhen 2
Score 0.789 (Sensitivity: 0.85; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000133431 Gene: ENSMUSG00000002409 AA Change: R404Q
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: ENSMUST00000172761
AA Change: R344Q
PolyPhen 2
Score 0.697 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000133719 Gene: ENSMUSG00000002409 AA Change: R344Q
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 |
|
Meta Mutation Damage Score |
0.1795 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.2%
|
Validation Efficiency |
97% (34/35) |
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 |
Ap3b2 |
C |
T |
7: 81,123,598 (GRCm39) |
|
probably benign |
Het |
B4galt3 |
C |
A |
1: 171,101,613 (GRCm39) |
H196N |
probably damaging |
Het |
Bpifb9b |
C |
T |
2: 154,153,662 (GRCm39) |
L243F |
probably benign |
Het |
Cd226 |
A |
T |
18: 89,265,107 (GRCm39) |
|
probably null |
Het |
Cdh15 |
G |
A |
8: 123,588,763 (GRCm39) |
R279Q |
probably damaging |
Het |
Cep295 |
A |
G |
9: 15,246,080 (GRCm39) |
I792T |
possibly damaging |
Het |
Cfap46 |
T |
C |
7: 139,240,962 (GRCm39) |
Y469C |
probably damaging |
Het |
Col9a2 |
C |
G |
4: 120,911,455 (GRCm39) |
R599G |
probably damaging |
Het |
D630045J12Rik |
G |
A |
6: 38,135,026 (GRCm39) |
P1385S |
possibly damaging |
Het |
Ddb1 |
A |
T |
19: 10,584,337 (GRCm39) |
M64L |
probably benign |
Het |
Gal3st2b |
A |
G |
1: 93,867,508 (GRCm39) |
T52A |
probably damaging |
Het |
Galk2 |
C |
A |
2: 125,773,193 (GRCm39) |
S208R |
probably benign |
Het |
Hap1 |
A |
T |
11: 100,245,541 (GRCm39) |
I141N |
probably damaging |
Het |
Hif3a |
T |
C |
7: 16,775,030 (GRCm39) |
S523G |
probably damaging |
Het |
Kirrel1 |
C |
T |
3: 86,995,792 (GRCm39) |
V381I |
probably damaging |
Het |
Lmbrd1 |
T |
C |
1: 24,724,622 (GRCm39) |
S69P |
probably damaging |
Het |
Lrriq1 |
C |
T |
10: 103,025,848 (GRCm39) |
V925M |
probably damaging |
Het |
Mmp16 |
A |
G |
4: 18,112,001 (GRCm39) |
Y459C |
probably damaging |
Het |
Mtr |
A |
G |
13: 12,203,043 (GRCm39) |
|
probably benign |
Het |
Nadk2 |
T |
A |
15: 9,085,862 (GRCm39) |
I167N |
probably damaging |
Het |
Neo1 |
A |
G |
9: 58,892,917 (GRCm39) |
F242L |
probably benign |
Het |
Pitpnm2 |
A |
T |
5: 124,260,982 (GRCm39) |
V1010E |
probably damaging |
Het |
Prp2rt |
G |
A |
13: 97,235,309 (GRCm39) |
T146I |
probably damaging |
Het |
Semp2l2b |
G |
T |
10: 21,943,155 (GRCm39) |
T275K |
probably benign |
Het |
Shox2 |
A |
G |
3: 66,888,822 (GRCm39) |
I23T |
possibly damaging |
Het |
Slc5a12 |
T |
C |
2: 110,439,777 (GRCm39) |
V141A |
probably damaging |
Het |
Sstr5 |
A |
G |
17: 25,710,875 (GRCm39) |
I118T |
probably benign |
Het |
Taar4 |
A |
G |
10: 23,836,912 (GRCm39) |
N174S |
probably damaging |
Het |
Tpcn2 |
C |
A |
7: 144,810,955 (GRCm39) |
G581W |
probably damaging |
Het |
Umod |
C |
T |
7: 119,065,416 (GRCm39) |
V538M |
probably damaging |
Het |
Vmn2r44 |
T |
G |
7: 8,373,639 (GRCm39) |
S517R |
probably damaging |
Het |
Zc3h12d |
G |
T |
10: 7,743,702 (GRCm39) |
V491L |
probably benign |
Het |
Zfp358 |
A |
T |
8: 3,545,454 (GRCm39) |
H12L |
possibly damaging |
Het |
Zkscan7 |
A |
G |
9: 122,723,892 (GRCm39) |
D287G |
probably benign |
Het |
|
Other mutations in Dyrk1b |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01483:Dyrk1b
|
APN |
7 |
27,882,101 (GRCm39) |
missense |
probably damaging |
0.96 |
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 |
|
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 |
|
Predicted Primers |
PCR Primer
(F):5'- GGCTCTAATGAGGTGTGCCC -3'
(R):5'- CAAGAGAGTGGCCGTCAGTG -3'
Sequencing Primer
(F):5'- CTAATGAGGTGTGCCCCTGGAAG -3'
(R):5'- CCGTCAGTGGGCAGGAG -3'
|
Posted On |
2014-10-30 |