Incidental Mutation 'R3947:Dyrk4'
| ID |
307751 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dyrk4
|
| Ensembl Gene |
ENSMUSG00000030345 |
| Gene Name |
dual-specificity tyrosine phosphorylation regulated kinase 4 |
| Synonyms |
Dyrk4b, Dyrk4a |
| MMRRC Submission |
040927-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R3947 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
126852983-126898802 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 126862268 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 408
(I408T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000077606
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000078521]
[ENSMUST00000171945]
|
| AlphaFold |
Q8BI55 |
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000032495
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000078521
AA Change: I408T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000077606
Gene: ENSMUSG00000030345
AA Change: I408T
| Domain | Start | End | E-Value | Type |
|---|
|
S_TKc
|
219 |
515 |
2.9e-84 |
SMART |
|
low complexity region
|
555 |
573 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000171945
AA Change: I27T
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000128180
Gene: ENSMUSG00000030345
AA Change: I27T
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Pkinase
|
1 |
59 |
2.8e-14 |
PFAM |
|
| Meta Mutation Damage Score |
0.7344 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.4%
|
| Validation Efficiency |
97% (32/33) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an enzyme that belongs to a conserved family of serine/threonine protein kinases. Members of this dual specificity kinase family are thought to function in the regulation of cell differentiation and proliferation, survival, and in development. Alternate splicing results in multiple transcript variants. Additional alternatively spliced transcript variants of this gene have been described, but their full-length nature is not known. [provided by RefSeq, Aug 2013]
PHENOTYPE: Contrary to expectation, homozygous null males are fertile and do not exhibit any obvious dysfunction in spermatogenesis, sperm motility and fertilization. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acin1 |
T |
A |
14: 54,916,790 (GRCm39) |
Q133L |
possibly damaging |
Het |
| Adgrg4 |
C |
T |
X: 55,963,114 (GRCm39) |
T1561I |
probably benign |
Het |
| Avl9 |
T |
C |
6: 56,705,650 (GRCm39) |
|
probably null |
Het |
| C87436 |
T |
A |
6: 86,423,168 (GRCm39) |
H247Q |
probably damaging |
Het |
| Cfap43 |
G |
T |
19: 47,754,418 (GRCm39) |
H969N |
probably benign |
Het |
| Chst15 |
T |
A |
7: 131,849,604 (GRCm39) |
N446Y |
probably damaging |
Het |
| Col4a3 |
T |
A |
1: 82,693,053 (GRCm39) |
I1446N |
probably damaging |
Het |
| Disc1 |
A |
G |
8: 125,814,874 (GRCm39) |
E246G |
probably damaging |
Het |
| Fnbp1l |
G |
T |
3: 122,338,228 (GRCm39) |
A481D |
possibly damaging |
Het |
| Gm10608 |
TACACACACACACACACACACACACACACACACACACACACACACACACACACACA |
TACACACACACACACACACACACACACACACACACACACACACACACACA |
9: 118,989,730 (GRCm39) |
|
probably benign |
Het |
| Grk2 |
G |
A |
19: 4,342,445 (GRCm39) |
T129M |
possibly damaging |
Het |
| Ino80d |
G |
T |
1: 63,113,662 (GRCm39) |
Q263K |
probably benign |
Het |
| Iqsec3 |
A |
T |
6: 121,364,783 (GRCm39) |
Y835* |
probably null |
Het |
| Irak3 |
T |
A |
10: 120,006,278 (GRCm39) |
M213L |
probably benign |
Het |
| Macf1 |
T |
C |
4: 123,274,213 (GRCm39) |
R6388G |
probably damaging |
Het |
| Mtnr1a |
T |
C |
8: 45,540,557 (GRCm39) |
Y173H |
probably damaging |
Het |
| Myo5b |
C |
T |
18: 74,828,474 (GRCm39) |
R709W |
probably damaging |
Het |
| Nebl |
A |
T |
2: 17,382,917 (GRCm39) |
|
probably null |
Het |
| Obscn |
T |
C |
11: 59,022,472 (GRCm39) |
R758G |
possibly damaging |
Het |
| Or2g1 |
A |
T |
17: 38,107,006 (GRCm39) |
I224L |
probably benign |
Het |
| Pex11g |
G |
A |
8: 3,515,787 (GRCm39) |
T82I |
probably benign |
Het |
| Pgr |
A |
G |
9: 8,961,453 (GRCm39) |
I842V |
probably benign |
Het |
| Pkd1 |
T |
A |
17: 24,797,011 (GRCm39) |
|
probably benign |
Het |
| Rbm20 |
T |
C |
19: 53,801,768 (GRCm39) |
I92T |
probably benign |
Het |
| Ryr3 |
C |
G |
2: 112,506,218 (GRCm39) |
R3443P |
probably damaging |
Het |
| Ssh2 |
A |
G |
11: 77,289,082 (GRCm39) |
D88G |
probably damaging |
Het |
| Suclg2 |
G |
T |
6: 95,556,219 (GRCm39) |
|
probably null |
Het |
| Tdrd3 |
A |
T |
14: 87,744,035 (GRCm39) |
D655V |
probably damaging |
Het |
| Tex2 |
C |
T |
11: 106,410,829 (GRCm39) |
D896N |
unknown |
Het |
| Tmem168 |
C |
A |
6: 13,583,051 (GRCm39) |
R610L |
probably damaging |
Het |
| Ttc17 |
A |
G |
2: 94,206,491 (GRCm39) |
|
probably benign |
Het |
| Vmn2r99 |
T |
C |
17: 19,599,252 (GRCm39) |
M312T |
probably benign |
Het |
| Wdfy3 |
T |
C |
5: 102,017,902 (GRCm39) |
E2546G |
probably damaging |
Het |
|
| Other mutations in Dyrk4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02474:Dyrk4
|
APN |
6 |
126,857,194 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02598:Dyrk4
|
APN |
6 |
126,860,982 (GRCm39) |
intron |
probably benign |
|
|
IGL02697:Dyrk4
|
APN |
6 |
126,875,971 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
IGL03127:Dyrk4
|
APN |
6 |
126,874,134 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
IGL03229:Dyrk4
|
APN |
6 |
126,863,605 (GRCm39) |
unclassified |
probably benign |
|
|
IGL03248:Dyrk4
|
APN |
6 |
126,861,016 (GRCm39) |
missense |
probably benign |
0.05 |
|
R0597:Dyrk4
|
UTSW |
6 |
126,863,612 (GRCm39) |
splice site |
probably null |
|
|
R0862:Dyrk4
|
UTSW |
6 |
126,854,296 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R0864:Dyrk4
|
UTSW |
6 |
126,854,296 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R1470:Dyrk4
|
UTSW |
6 |
126,893,337 (GRCm39) |
nonsense |
probably null |
|
|
R1470:Dyrk4
|
UTSW |
6 |
126,893,337 (GRCm39) |
nonsense |
probably null |
|
|
R1645:Dyrk4
|
UTSW |
6 |
126,871,756 (GRCm39) |
nonsense |
probably null |
|
|
R1650:Dyrk4
|
UTSW |
6 |
126,876,792 (GRCm39) |
missense |
probably benign |
0.28 |
|
R1885:Dyrk4
|
UTSW |
6 |
126,854,144 (GRCm39) |
missense |
probably benign |
0.15 |
|
R3948:Dyrk4
|
UTSW |
6 |
126,862,268 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3949:Dyrk4
|
UTSW |
6 |
126,862,268 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4794:Dyrk4
|
UTSW |
6 |
126,862,300 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R5991:Dyrk4
|
UTSW |
6 |
126,857,188 (GRCm39) |
missense |
probably benign |
0.44 |
|
R6143:Dyrk4
|
UTSW |
6 |
126,863,614 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6269:Dyrk4
|
UTSW |
6 |
126,863,690 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6572:Dyrk4
|
UTSW |
6 |
126,874,201 (GRCm39) |
missense |
probably benign |
|
|
R6598:Dyrk4
|
UTSW |
6 |
126,853,289 (GRCm39) |
missense |
probably benign |
0.20 |
|
R6703:Dyrk4
|
UTSW |
6 |
126,867,045 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6750:Dyrk4
|
UTSW |
6 |
126,875,918 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7214:Dyrk4
|
UTSW |
6 |
126,862,200 (GRCm39) |
missense |
probably benign |
0.35 |
|
R7585:Dyrk4
|
UTSW |
6 |
126,867,007 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8101:Dyrk4
|
UTSW |
6 |
126,868,612 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R8203:Dyrk4
|
UTSW |
6 |
126,871,797 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8769:Dyrk4
|
UTSW |
6 |
126,857,208 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R8975:Dyrk4
|
UTSW |
6 |
126,871,783 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9642:Dyrk4
|
UTSW |
6 |
126,893,253 (GRCm39) |
missense |
probably benign |
0.05 |
|
Z1176:Dyrk4
|
UTSW |
6 |
126,869,091 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- AACAGATCACACTGGCTTCAG -3'
(R):5'- TTCCTGAGAAGCCCACAGAGAG -3'
Sequencing Primer
(F):5'- CTACTTTCAGAAGTGGAGGCATGTAC -3'
(R):5'- CAGAGAGGGAGGGGCCTTTATG -3'
|
| Posted On |
2015-04-17 |
Incidental Mutation