Incidental Mutation 'R1079:Hipk3'
ID |
85773 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Hipk3
|
Ensembl Gene |
ENSMUSG00000027177 |
Gene Name |
homeodomain interacting protein kinase 3 |
Synonyms |
DYRK6, FIST3 |
MMRRC Submission |
039165-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R1079 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
104256826-104324791 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 104302043 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Leucine
at position 50
(F50L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000106753
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028600]
[ENSMUST00000111124]
[ENSMUST00000111125]
|
AlphaFold |
Q9ERH7 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000028600
AA Change: F50L
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000028600 Gene: ENSMUSG00000027177 AA Change: F50L
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 benign
Transcript: ENSMUST00000111124
AA Change: F50L
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000106753 Gene: ENSMUSG00000027177 AA Change: F50L
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 benign
Transcript: ENSMUST00000111125
AA Change: F50L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000106754 Gene: ENSMUSG00000027177 AA Change: F50L
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 |
0.0588 |
Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.9%
- 10x: 97.6%
- 20x: 95.6%
|
Validation Efficiency |
98% (46/47) |
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: 47 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2200002J24Rik |
T |
C |
7: 30,399,209 (GRCm39) |
M1T |
probably null |
Het |
Adam25 |
T |
C |
8: 41,208,513 (GRCm39) |
V593A |
possibly damaging |
Het |
Agrn |
C |
T |
4: 156,261,682 (GRCm39) |
C536Y |
probably damaging |
Het |
Amigo3 |
T |
C |
9: 107,931,051 (GRCm39) |
M158T |
probably benign |
Het |
Arsa |
G |
A |
15: 89,358,428 (GRCm39) |
|
probably benign |
Het |
Baz1a |
T |
A |
12: 54,941,785 (GRCm39) |
I1474L |
possibly damaging |
Het |
Cfap144 |
A |
G |
11: 58,692,620 (GRCm39) |
Y36H |
probably benign |
Het |
Cfap65 |
A |
G |
1: 74,944,872 (GRCm39) |
V1455A |
probably damaging |
Het |
Cfap65 |
G |
A |
1: 74,941,606 (GRCm39) |
A1776V |
probably damaging |
Het |
Cnot6 |
G |
T |
11: 49,575,930 (GRCm39) |
D176E |
probably benign |
Het |
Crot |
A |
T |
5: 9,043,504 (GRCm39) |
|
probably null |
Het |
Cryba2 |
A |
T |
1: 74,929,717 (GRCm39) |
V140E |
probably damaging |
Het |
Dennd4b |
G |
A |
3: 90,178,485 (GRCm39) |
R516K |
probably benign |
Het |
Dst |
C |
A |
1: 34,225,944 (GRCm39) |
T1697N |
possibly damaging |
Het |
Eftud2 |
G |
T |
11: 102,730,870 (GRCm39) |
Y837* |
probably null |
Het |
Evpl |
G |
T |
11: 116,120,894 (GRCm39) |
T447K |
possibly damaging |
Het |
Fndc3a |
A |
T |
14: 72,827,247 (GRCm39) |
M146K |
possibly damaging |
Het |
Folh1 |
G |
T |
7: 86,421,089 (GRCm39) |
T80K |
probably damaging |
Het |
Gm4922 |
T |
A |
10: 18,660,086 (GRCm39) |
Y212F |
probably damaging |
Het |
Gtf2i |
T |
G |
5: 134,271,748 (GRCm39) |
|
probably benign |
Het |
Ifit1bl2 |
T |
A |
19: 34,596,885 (GRCm39) |
T244S |
probably benign |
Het |
Ikzf2 |
T |
C |
1: 69,578,264 (GRCm39) |
D341G |
possibly damaging |
Het |
Kif3a |
G |
C |
11: 53,461,408 (GRCm39) |
V17L |
possibly damaging |
Het |
Lgr6 |
C |
T |
1: 134,921,748 (GRCm39) |
A199T |
probably damaging |
Het |
Lzts2 |
T |
A |
19: 45,011,983 (GRCm39) |
N137K |
probably damaging |
Het |
Mphosph8 |
T |
A |
14: 56,911,716 (GRCm39) |
D246E |
probably damaging |
Het |
Myh14 |
T |
C |
7: 44,279,426 (GRCm39) |
E918G |
probably damaging |
Het |
N6amt1 |
T |
C |
16: 87,153,086 (GRCm39) |
V52A |
probably damaging |
Het |
Npr2 |
A |
C |
4: 43,643,654 (GRCm39) |
T561P |
probably damaging |
Het |
Nudt12 |
G |
A |
17: 59,318,032 (GRCm39) |
|
probably benign |
Het |
Or10ad1 |
A |
C |
15: 98,106,223 (GRCm39) |
V14G |
probably damaging |
Het |
Or5w8 |
A |
G |
2: 87,687,699 (GRCm39) |
Y60C |
probably damaging |
Het |
Or6n2 |
A |
T |
1: 173,897,032 (GRCm39) |
H56L |
possibly damaging |
Het |
Or8k22 |
T |
A |
2: 86,163,185 (GRCm39) |
R172W |
probably damaging |
Het |
Pan2 |
A |
G |
10: 128,154,107 (GRCm39) |
T1050A |
probably damaging |
Het |
Rad17 |
G |
T |
13: 100,770,407 (GRCm39) |
D213E |
probably benign |
Het |
Sall2 |
T |
A |
14: 52,550,660 (GRCm39) |
H843L |
probably benign |
Het |
Sdk2 |
C |
T |
11: 113,729,472 (GRCm39) |
|
silent |
Het |
Sema3e |
A |
T |
5: 14,275,669 (GRCm39) |
N258I |
probably benign |
Het |
Siglec1 |
G |
A |
2: 130,921,297 (GRCm39) |
R625* |
probably null |
Het |
Slc15a3 |
T |
C |
19: 10,833,344 (GRCm39) |
S454P |
probably benign |
Het |
Sp110 |
G |
A |
1: 85,516,825 (GRCm39) |
|
probably benign |
Het |
Spatc1l |
T |
C |
10: 76,399,741 (GRCm39) |
S88P |
probably damaging |
Het |
Ssh3 |
A |
C |
19: 4,316,577 (GRCm39) |
L143R |
probably damaging |
Het |
Ttn |
C |
T |
2: 76,587,340 (GRCm39) |
|
probably benign |
Het |
Vps35 |
A |
G |
8: 86,005,683 (GRCm39) |
L306S |
probably damaging |
Het |
Zfp729a |
T |
C |
13: 67,767,794 (GRCm39) |
I812V |
possibly 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 |
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 |
R4321: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'- TGGTCGCTGTCACAACTGTCAC -3'
(R):5'- TTGCAGGTATGGCCTCACAAGTC -3'
Sequencing Primer
(F):5'- GGAAATGTAACCTGTTTCTCCACAC -3'
(R):5'- GGCCTCACAAGTCTTGGTCTAC -3'
|
Posted On |
2013-11-18 |