Incidental Mutation 'R4321:Hipk3'
| ID |
323808 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Hipk3
|
| Ensembl Gene |
ENSMUSG00000027177 |
| Gene Name |
homeodomain interacting protein kinase 3 |
| Synonyms |
DYRK6, FIST3 |
| MMRRC Submission |
041662-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4321 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
104256826-104324791 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 104276916 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Leucine
at position 388
(V388L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000106754
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028600]
[ENSMUST00000111124]
[ENSMUST00000111125]
|
| AlphaFold |
Q9ERH7 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000028600
AA Change: V388L
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000028600
Gene: ENSMUSG00000027177
AA Change: V388L
| Domain | Start | End | E-Value | Type |
|---|
|
S_TKc
|
197 |
525 |
1.58e-76 |
SMART |
|
low complexity region
|
844 |
859 |
N/A |
INTRINSIC |
|
low complexity region
|
887 |
906 |
N/A |
INTRINSIC |
|
low complexity region
|
1093 |
1117 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000111124
AA Change: V388L
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000106753
Gene: ENSMUSG00000027177
AA Change: V388L
| Domain | Start | End | E-Value | Type |
|---|
|
S_TKc
|
197 |
525 |
1.58e-76 |
SMART |
|
low complexity region
|
844 |
859 |
N/A |
INTRINSIC |
|
low complexity region
|
887 |
906 |
N/A |
INTRINSIC |
|
low complexity region
|
1093 |
1117 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000111125
AA Change: V388L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000106754
Gene: ENSMUSG00000027177
AA Change: V388L
| Domain | Start | End | E-Value | Type |
|---|
|
S_TKc
|
197 |
525 |
1.58e-76 |
SMART |
|
low complexity region
|
865 |
880 |
N/A |
INTRINSIC |
|
low complexity region
|
908 |
927 |
N/A |
INTRINSIC |
|
low complexity region
|
1114 |
1138 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.1684 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.8%
|
| Validation Efficiency |
95% (56/59) |
| MGI Phenotype |
PHENOTYPE: Mice homozygous for a gene trapped allele exhibit impaired insulin secretion and glucose tolerance. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9330159F19Rik |
A |
T |
10: 29,100,887 (GRCm39) |
D420V |
probably damaging |
Het |
| Als2 |
A |
C |
1: 59,206,613 (GRCm39) |
|
probably benign |
Het |
| Ankrd9 |
A |
G |
12: 110,943,074 (GRCm39) |
L287P |
probably damaging |
Het |
| Aoc1l1 |
T |
A |
6: 48,953,456 (GRCm39) |
D460E |
probably damaging |
Het |
| Bbof1 |
A |
T |
12: 84,473,902 (GRCm39) |
R411* |
probably null |
Het |
| Camta2 |
A |
T |
11: 70,569,151 (GRCm39) |
L598Q |
probably damaging |
Het |
| Ccdc178 |
T |
A |
18: 22,166,600 (GRCm39) |
K530* |
probably null |
Het |
| Cep85 |
G |
A |
4: 133,859,596 (GRCm39) |
T689I |
probably damaging |
Het |
| Clvs1 |
T |
C |
4: 9,282,029 (GRCm39) |
|
probably benign |
Het |
| Cpped1 |
T |
C |
16: 11,705,610 (GRCm39) |
T65A |
probably benign |
Het |
| Daxx |
T |
C |
17: 34,130,380 (GRCm39) |
Y132H |
possibly damaging |
Het |
| Dock7 |
T |
C |
4: 98,960,691 (GRCm39) |
E279G |
probably damaging |
Het |
| Dok7 |
A |
T |
5: 35,237,141 (GRCm39) |
|
probably benign |
Het |
| Dthd1 |
A |
T |
5: 62,976,033 (GRCm39) |
I236F |
probably damaging |
Het |
| Egf |
A |
G |
3: 129,499,783 (GRCm39) |
C285R |
probably damaging |
Het |
| Epha4 |
T |
A |
1: 77,483,850 (GRCm39) |
|
probably null |
Het |
| Fbxw13 |
A |
C |
9: 109,010,503 (GRCm39) |
I378M |
probably benign |
Het |
| Gaa |
A |
T |
11: 119,160,963 (GRCm39) |
N2I |
probably benign |
Het |
| Gad1 |
G |
A |
2: 70,420,174 (GRCm39) |
D353N |
probably damaging |
Het |
| Ggcx |
A |
G |
6: 72,405,803 (GRCm39) |
S545G |
probably benign |
Het |
| Gm2663 |
G |
T |
6: 40,974,530 (GRCm39) |
Q87K |
probably damaging |
Het |
| Golga4 |
A |
G |
9: 118,385,503 (GRCm39) |
E847G |
probably damaging |
Het |
| Ibtk |
T |
C |
9: 85,617,125 (GRCm39) |
D149G |
possibly damaging |
Het |
| Ice1 |
A |
T |
13: 70,751,229 (GRCm39) |
V1619E |
possibly damaging |
Het |
| Itpr3 |
A |
G |
17: 27,330,948 (GRCm39) |
E1752G |
probably benign |
Het |
| Itsn1 |
G |
A |
16: 91,615,440 (GRCm39) |
|
probably benign |
Het |
| Kprp |
G |
A |
3: 92,732,163 (GRCm39) |
R296W |
probably damaging |
Het |
| Lama1 |
G |
A |
17: 68,078,078 (GRCm39) |
G1171D |
probably benign |
Het |
| Lonp2 |
A |
G |
8: 87,392,356 (GRCm39) |
H474R |
probably damaging |
Het |
| Mark1 |
G |
T |
1: 184,630,871 (GRCm39) |
D746E |
possibly damaging |
Het |
| Mlxipl |
C |
T |
5: 135,164,304 (GRCm39) |
Q167* |
probably null |
Het |
| Myo3a |
A |
T |
2: 22,271,966 (GRCm39) |
N162Y |
probably damaging |
Het |
| Myo5a |
T |
G |
9: 75,124,812 (GRCm39) |
V1787G |
probably damaging |
Het |
| Myorg |
C |
T |
4: 41,498,767 (GRCm39) |
V288I |
probably benign |
Het |
| Nrxn3 |
A |
T |
12: 90,166,005 (GRCm39) |
E227V |
probably damaging |
Het |
| Orc1 |
G |
A |
4: 108,445,973 (GRCm39) |
M30I |
probably benign |
Het |
| Pira13 |
A |
G |
7: 3,825,754 (GRCm39) |
S372P |
possibly damaging |
Het |
| Rufy2 |
A |
G |
10: 62,818,459 (GRCm39) |
D5G |
probably damaging |
Het |
| Rufy4 |
A |
T |
1: 74,171,943 (GRCm39) |
D222V |
possibly damaging |
Het |
| Rufy4 |
T |
C |
1: 74,186,822 (GRCm39) |
C537R |
probably damaging |
Het |
| Septin1 |
G |
A |
7: 126,816,200 (GRCm39) |
P77S |
probably damaging |
Het |
| Slamf1 |
T |
C |
1: 171,602,694 (GRCm39) |
|
probably null |
Het |
| Sox6 |
A |
G |
7: 115,179,798 (GRCm39) |
|
probably null |
Het |
| Spef2 |
A |
T |
15: 9,679,429 (GRCm39) |
I636K |
possibly damaging |
Het |
| Tshz2 |
T |
A |
2: 169,727,465 (GRCm39) |
I218N |
possibly damaging |
Het |
| Txnl1 |
T |
C |
18: 63,812,561 (GRCm39) |
T78A |
possibly damaging |
Het |
| Ulk4 |
T |
G |
9: 120,903,062 (GRCm39) |
R1138S |
probably benign |
Het |
| Vamp8 |
A |
C |
6: 72,362,536 (GRCm39) |
V88G |
possibly damaging |
Het |
| Vmn2r63 |
A |
G |
7: 42,576,406 (GRCm39) |
F469S |
probably benign |
Het |
| Zfp850 |
A |
C |
7: 27,688,825 (GRCm39) |
F461C |
probably damaging |
Het |
|
| Other mutations in Hipk3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00717:Hipk3
|
APN |
2 |
104,260,576 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
IGL00937:Hipk3
|
APN |
2 |
104,263,517 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
IGL01719:Hipk3
|
APN |
2 |
104,267,434 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
IGL01802:Hipk3
|
APN |
2 |
104,302,198 (GRCm39) |
splice site |
probably benign |
|
|
IGL01932:Hipk3
|
APN |
2 |
104,301,326 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02089:Hipk3
|
APN |
2 |
104,261,724 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02522:Hipk3
|
APN |
2 |
104,301,676 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02525:Hipk3
|
APN |
2 |
104,301,757 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02959:Hipk3
|
APN |
2 |
104,301,604 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02986:Hipk3
|
APN |
2 |
104,264,086 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0136:Hipk3
|
UTSW |
2 |
104,269,638 (GRCm39) |
missense |
probably benign |
0.02 |
|
R0277:Hipk3
|
UTSW |
2 |
104,271,593 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0308:Hipk3
|
UTSW |
2 |
104,263,552 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0367:Hipk3
|
UTSW |
2 |
104,261,594 (GRCm39) |
nonsense |
probably null |
|
|
R0597:Hipk3
|
UTSW |
2 |
104,263,982 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R1079:Hipk3
|
UTSW |
2 |
104,302,043 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1171:Hipk3
|
UTSW |
2 |
104,302,021 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1244:Hipk3
|
UTSW |
2 |
104,263,601 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1509:Hipk3
|
UTSW |
2 |
104,271,607 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1616:Hipk3
|
UTSW |
2 |
104,264,090 (GRCm39) |
nonsense |
probably null |
|
|
R1893:Hipk3
|
UTSW |
2 |
104,263,601 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1938:Hipk3
|
UTSW |
2 |
104,260,533 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R1969:Hipk3
|
UTSW |
2 |
104,264,186 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1975:Hipk3
|
UTSW |
2 |
104,301,518 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1985:Hipk3
|
UTSW |
2 |
104,264,780 (GRCm39) |
missense |
probably benign |
0.16 |
|
R2105:Hipk3
|
UTSW |
2 |
104,269,737 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R2422:Hipk3
|
UTSW |
2 |
104,301,830 (GRCm39) |
missense |
probably benign |
0.01 |
|
R3028:Hipk3
|
UTSW |
2 |
104,264,135 (GRCm39) |
missense |
probably benign |
|
|
R3747:Hipk3
|
UTSW |
2 |
104,271,628 (GRCm39) |
nonsense |
probably null |
|
|
R3923:Hipk3
|
UTSW |
2 |
104,301,107 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4320:Hipk3
|
UTSW |
2 |
104,276,916 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4322:Hipk3
|
UTSW |
2 |
104,276,916 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4323:Hipk3
|
UTSW |
2 |
104,276,916 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4324:Hipk3
|
UTSW |
2 |
104,276,916 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4595:Hipk3
|
UTSW |
2 |
104,271,622 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4604:Hipk3
|
UTSW |
2 |
104,269,674 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4657:Hipk3
|
UTSW |
2 |
104,264,104 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5193:Hipk3
|
UTSW |
2 |
104,260,345 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R5769:Hipk3
|
UTSW |
2 |
104,265,298 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R5843:Hipk3
|
UTSW |
2 |
104,270,569 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R5906:Hipk3
|
UTSW |
2 |
104,302,153 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5976:Hipk3
|
UTSW |
2 |
104,301,529 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5991:Hipk3
|
UTSW |
2 |
104,268,328 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6214:Hipk3
|
UTSW |
2 |
104,264,086 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6215:Hipk3
|
UTSW |
2 |
104,264,086 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6285:Hipk3
|
UTSW |
2 |
104,301,770 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6523:Hipk3
|
UTSW |
2 |
104,269,753 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R6713:Hipk3
|
UTSW |
2 |
104,276,916 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7381:Hipk3
|
UTSW |
2 |
104,269,696 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7517:Hipk3
|
UTSW |
2 |
104,265,059 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8780:Hipk3
|
UTSW |
2 |
104,264,179 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8843:Hipk3
|
UTSW |
2 |
104,268,242 (GRCm39) |
missense |
probably benign |
0.21 |
|
R9186:Hipk3
|
UTSW |
2 |
104,301,439 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9187:Hipk3
|
UTSW |
2 |
104,276,936 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9374:Hipk3
|
UTSW |
2 |
104,301,850 (GRCm39) |
missense |
probably benign |
|
|
R9398:Hipk3
|
UTSW |
2 |
104,263,562 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9552:Hipk3
|
UTSW |
2 |
104,301,850 (GRCm39) |
missense |
probably benign |
|
|
R9584:Hipk3
|
UTSW |
2 |
104,301,910 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9641:Hipk3
|
UTSW |
2 |
104,267,376 (GRCm39) |
missense |
probably benign |
|
|
X0021:Hipk3
|
UTSW |
2 |
104,271,711 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
Z1088:Hipk3
|
UTSW |
2 |
104,264,974 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CTTTGACATTCATGGAGATTTTCAC -3'
(R):5'- ACATGACCGAGGGTTAGGATCG -3'
Sequencing Primer
(F):5'- CACATTTTGTGTATGGAGAATCATGC -3'
(R):5'- GTTTGACAAGTTCTCAGCGAC -3'
|
| Posted On |
2015-06-24 |
Incidental Mutation