Incidental Mutation 'R6171:Dyrk1b'
| ID |
490440 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dyrk1b
|
| Ensembl Gene |
ENSMUSG00000002409 |
| Gene Name |
dual-specificity tyrosine phosphorylation regulated kinase 1b |
| Synonyms |
Mirk |
| MMRRC Submission |
044314-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6171 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
27878894-27886719 bp(+) (GRCm39) |
| Type of Mutation |
critical splice acceptor site |
| DNA Base Change (assembly) |
A to T
at 27885975 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000133719
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000085901]
[ENSMUST00000085901]
[ENSMUST00000172467]
[ENSMUST00000172467]
[ENSMUST00000172761]
[ENSMUST00000172761]
|
| AlphaFold |
Q9Z188 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000085901
|
| SMART Domains |
Protein: ENSMUSP00000083064
Gene: ENSMUSG00000002409
| 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 null
Transcript: ENSMUST00000085901
|
| SMART Domains |
Protein: ENSMUSP00000083064
Gene: ENSMUSG00000002409
| 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 null
Transcript: ENSMUST00000172467
|
| SMART Domains |
Protein: ENSMUSP00000133431
Gene: ENSMUSG00000002409
| 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 null
Transcript: ENSMUST00000172467
|
| SMART Domains |
Protein: ENSMUSP00000133431
Gene: ENSMUSG00000002409
| 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 null
Transcript: ENSMUST00000172761
|
| SMART Domains |
Protein: ENSMUSP00000133719
Gene: ENSMUSG00000002409
| 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 |
probably null
Transcript: ENSMUST00000172761
|
| SMART Domains |
Protein: ENSMUSP00000133719
Gene: ENSMUSG00000002409
| 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 |
0.9498 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.1%
- 20x: 94.4%
|
| Validation Efficiency |
100% (47/47) |
| 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: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adprs |
A |
G |
4: 126,211,110 (GRCm39) |
V269A |
probably damaging |
Het |
| Atp11a |
T |
A |
8: 12,882,663 (GRCm39) |
V517D |
probably damaging |
Het |
| Atr |
C |
T |
9: 95,763,324 (GRCm39) |
Q1073* |
probably null |
Het |
| C87436 |
A |
C |
6: 86,422,449 (GRCm39) |
T8P |
probably benign |
Het |
| Clasrp |
T |
C |
7: 19,318,747 (GRCm39) |
|
probably benign |
Het |
| Creb3l1 |
G |
T |
2: 91,821,614 (GRCm39) |
Q254K |
probably damaging |
Het |
| Dapl1 |
C |
A |
2: 59,326,946 (GRCm39) |
T64K |
probably benign |
Het |
| Dnah2 |
A |
T |
11: 69,313,868 (GRCm39) |
L4168Q |
probably damaging |
Het |
| Dnttip2 |
T |
A |
3: 122,072,511 (GRCm39) |
I597N |
probably damaging |
Het |
| Elk3 |
G |
T |
10: 93,085,906 (GRCm39) |
P132Q |
probably damaging |
Het |
| Galt |
C |
T |
4: 41,757,541 (GRCm39) |
P238S |
probably damaging |
Het |
| Gm10322 |
T |
C |
10: 59,452,084 (GRCm39) |
V67A |
possibly damaging |
Het |
| Ice1 |
T |
C |
13: 70,754,850 (GRCm39) |
Y412C |
probably benign |
Het |
| Kcna1 |
A |
T |
6: 126,619,286 (GRCm39) |
Y345N |
probably damaging |
Het |
| Kif1b |
T |
C |
4: 149,342,505 (GRCm39) |
Y419C |
probably damaging |
Het |
| Klf15 |
G |
T |
6: 90,443,601 (GRCm39) |
A59S |
possibly damaging |
Het |
| Mettl17 |
T |
A |
14: 52,126,236 (GRCm39) |
Y162N |
probably damaging |
Het |
| Myh10 |
G |
A |
11: 68,682,716 (GRCm39) |
R1050Q |
probably damaging |
Het |
| Nek4 |
T |
C |
14: 30,692,304 (GRCm39) |
V376A |
probably benign |
Het |
| Nemp1 |
T |
A |
10: 127,525,319 (GRCm39) |
|
probably null |
Het |
| Nlrp9a |
T |
C |
7: 26,258,188 (GRCm39) |
I602T |
possibly damaging |
Het |
| Nphp4 |
T |
C |
4: 152,628,906 (GRCm39) |
V764A |
probably damaging |
Het |
| Or12e1 |
T |
A |
2: 87,022,709 (GRCm39) |
V226E |
possibly damaging |
Het |
| Or8c17 |
C |
T |
9: 38,179,898 (GRCm39) |
Q22* |
probably null |
Het |
| Osbp2 |
A |
T |
11: 3,667,221 (GRCm39) |
|
probably null |
Het |
| Pax2 |
A |
G |
19: 44,779,179 (GRCm39) |
Y185C |
probably damaging |
Het |
| Pdyn |
A |
T |
2: 129,530,268 (GRCm39) |
S134T |
possibly damaging |
Het |
| Peg10 |
GAT |
GATCAT |
6: 4,756,449 (GRCm39) |
|
probably benign |
Het |
| Ppp1r13l |
A |
G |
7: 19,111,436 (GRCm39) |
M754V |
probably benign |
Het |
| Prr23a3 |
T |
A |
9: 98,747,731 (GRCm39) |
N228K |
probably benign |
Het |
| Psmd12 |
T |
C |
11: 107,382,733 (GRCm39) |
F213L |
probably damaging |
Het |
| Qser1 |
A |
T |
2: 104,619,628 (GRCm39) |
S395T |
probably damaging |
Het |
| Rab7b |
A |
G |
1: 131,626,372 (GRCm39) |
|
probably null |
Het |
| Rev3l |
T |
A |
10: 39,738,709 (GRCm39) |
L2821* |
probably null |
Het |
| Rplp0 |
A |
G |
5: 115,699,219 (GRCm39) |
N127S |
probably benign |
Het |
| Serpina9 |
G |
T |
12: 103,974,678 (GRCm39) |
Y158* |
probably null |
Het |
| Sis |
G |
A |
3: 72,868,360 (GRCm39) |
T110M |
possibly damaging |
Het |
| Slc43a2 |
A |
G |
11: 75,453,876 (GRCm39) |
Y263C |
probably damaging |
Het |
| Sp110 |
A |
C |
1: 85,505,050 (GRCm39) |
F434C |
probably benign |
Het |
| Stard13 |
A |
T |
5: 151,016,227 (GRCm39) |
V88E |
probably damaging |
Het |
| Trim29 |
G |
A |
9: 43,230,674 (GRCm39) |
E286K |
probably damaging |
Het |
| Vmn2r24 |
T |
C |
6: 123,764,205 (GRCm39) |
S361P |
probably damaging |
Het |
| Wnk2 |
T |
C |
13: 49,214,308 (GRCm39) |
T18A |
probably damaging |
Het |
| Xylb |
C |
T |
9: 119,210,657 (GRCm39) |
T380M |
probably damaging |
Het |
| Zbtb5 |
T |
C |
4: 44,994,119 (GRCm39) |
T422A |
probably benign |
Het |
| Zhx2 |
A |
G |
15: 57,686,602 (GRCm39) |
E657G |
probably damaging |
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 |
|
|
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 |
|
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'- ACTTGCTCTGGTCTCAAAGCC -3'
(R):5'- CACATCCATCAACTCTGGGG -3'
Sequencing Primer
(F):5'- GCTCTGGTCTCAAAGCCTAAGC -3'
(R):5'- CCATCAACTCTGGGGGTGGTG -3'
|
| Posted On |
2017-10-10 |
Incidental Mutation