Incidental Mutation 'R6523:Hipk3'
ID |
521456 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Hipk3
|
Ensembl Gene |
ENSMUSG00000027177 |
Gene Name |
homeodomain interacting protein kinase 3 |
Synonyms |
DYRK6, FIST3 |
MMRRC Submission |
044649-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R6523 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
104256826-104324791 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 104269753 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Serine
at position 479
(T479S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000106753
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028600]
[ENSMUST00000111124]
[ENSMUST00000111125]
|
AlphaFold |
Q9ERH7 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000028600
AA Change: T479S
PolyPhen 2
Score 0.503 (Sensitivity: 0.88; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000028600 Gene: ENSMUSG00000027177 AA Change: T479S
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 |
possibly damaging
Transcript: ENSMUST00000111124
AA Change: T479S
PolyPhen 2
Score 0.503 (Sensitivity: 0.88; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000106753 Gene: ENSMUSG00000027177 AA Change: T479S
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 |
possibly damaging
Transcript: ENSMUST00000111125
AA Change: T479S
PolyPhen 2
Score 0.458 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000106754 Gene: ENSMUSG00000027177 AA Change: T479S
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 |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000132622
|
Meta Mutation Damage Score |
0.0896 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.8%
- 20x: 93.3%
|
Validation Efficiency |
97% (68/70) |
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: 71 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ackr1 |
A |
G |
1: 173,160,120 (GRCm39) |
|
probably null |
Het |
Alg2 |
A |
T |
4: 47,472,071 (GRCm39) |
S246T |
possibly damaging |
Het |
Ankfy1 |
G |
A |
11: 72,621,308 (GRCm39) |
R198Q |
possibly damaging |
Het |
Arid4a |
A |
G |
12: 71,114,115 (GRCm39) |
|
probably null |
Het |
AU040320 |
G |
A |
4: 126,762,553 (GRCm39) |
|
probably null |
Het |
B430306N03Rik |
A |
G |
17: 48,626,193 (GRCm39) |
T129A |
possibly damaging |
Het |
Blvrb |
C |
A |
7: 27,165,142 (GRCm39) |
|
probably null |
Het |
Ccdc175 |
T |
C |
12: 72,191,565 (GRCm39) |
N337S |
probably benign |
Het |
Ccdc28b |
A |
C |
4: 129,514,780 (GRCm39) |
F110V |
probably damaging |
Het |
Cd200 |
A |
G |
16: 45,220,633 (GRCm39) |
Y16H |
probably benign |
Het |
Cfh |
T |
G |
1: 140,029,445 (GRCm39) |
E950A |
possibly damaging |
Het |
Clec3a |
A |
T |
8: 115,152,345 (GRCm39) |
Y117F |
probably damaging |
Het |
CN725425 |
A |
G |
15: 91,115,784 (GRCm39) |
S9G |
probably benign |
Het |
Coasy |
T |
A |
11: 100,976,944 (GRCm39) |
W535R |
probably damaging |
Het |
Cox4i1 |
T |
A |
8: 121,399,480 (GRCm39) |
S30R |
probably benign |
Het |
Csnk1a1 |
G |
A |
18: 61,688,829 (GRCm39) |
S3N |
probably benign |
Het |
Dcst2 |
C |
G |
3: 89,280,808 (GRCm39) |
L669V |
probably benign |
Het |
Dnah14 |
A |
G |
1: 181,471,186 (GRCm39) |
I1346V |
probably benign |
Het |
Fbxw24 |
G |
A |
9: 109,434,048 (GRCm39) |
R421* |
probably null |
Het |
Fstl5 |
G |
A |
3: 76,443,641 (GRCm39) |
V329I |
probably benign |
Het |
Gli3 |
T |
C |
13: 15,888,235 (GRCm39) |
|
probably null |
Het |
Gna11 |
A |
T |
10: 81,380,688 (GRCm39) |
I25N |
probably damaging |
Het |
Greb1 |
C |
T |
12: 16,734,374 (GRCm39) |
V1539I |
possibly damaging |
Het |
Hspa1b |
A |
G |
17: 35,176,167 (GRCm39) |
I606T |
probably benign |
Het |
Idnk |
T |
A |
13: 58,311,457 (GRCm39) |
F141L |
probably damaging |
Het |
Ifit3 |
A |
G |
19: 34,565,555 (GRCm39) |
N367S |
probably benign |
Het |
Kcnn1 |
A |
T |
8: 71,299,169 (GRCm39) |
D448E |
possibly damaging |
Het |
Krt14 |
T |
C |
11: 100,095,923 (GRCm39) |
T212A |
possibly damaging |
Het |
Ldlr |
G |
A |
9: 21,648,549 (GRCm39) |
C285Y |
probably damaging |
Het |
Mark3 |
G |
A |
12: 111,593,669 (GRCm39) |
V234I |
probably damaging |
Het |
Meikin |
T |
A |
11: 54,289,327 (GRCm39) |
Y233* |
probably null |
Het |
Mtcl2 |
G |
A |
2: 156,902,263 (GRCm39) |
Q251* |
probably null |
Het |
Muc20 |
T |
C |
16: 32,613,820 (GRCm39) |
D519G |
possibly damaging |
Het |
Nalcn |
T |
A |
14: 123,555,255 (GRCm39) |
H876L |
probably benign |
Het |
Ncaph |
A |
T |
2: 126,947,809 (GRCm39) |
I698K |
probably damaging |
Het |
Nipal1 |
A |
T |
5: 72,824,951 (GRCm39) |
I215F |
probably damaging |
Het |
Nrde2 |
A |
T |
12: 100,100,664 (GRCm39) |
D607E |
possibly damaging |
Het |
Nt5dc2 |
T |
C |
14: 30,857,662 (GRCm39) |
F217S |
probably damaging |
Het |
Ntsr2 |
T |
A |
12: 16,706,697 (GRCm39) |
S156T |
probably benign |
Het |
Or13c9 |
A |
T |
4: 52,935,500 (GRCm39) |
I261N |
probably damaging |
Het |
Or5b110-ps1 |
A |
C |
19: 13,259,728 (GRCm39) |
D231E |
probably benign |
Het |
Or5p4 |
A |
C |
7: 107,680,762 (GRCm39) |
T254P |
probably benign |
Het |
Pfas |
A |
T |
11: 68,881,283 (GRCm39) |
I1028K |
probably benign |
Het |
Pnpla5 |
C |
A |
15: 83,999,912 (GRCm39) |
R329L |
possibly damaging |
Het |
Pramel30 |
T |
C |
4: 144,058,218 (GRCm39) |
V275A |
probably benign |
Het |
Rhot2 |
A |
G |
17: 26,058,394 (GRCm39) |
V393A |
possibly damaging |
Het |
Rigi |
T |
A |
4: 40,205,947 (GRCm39) |
T882S |
probably benign |
Het |
Rnase9 |
T |
A |
14: 51,276,684 (GRCm39) |
Y98F |
possibly damaging |
Het |
Sacs |
C |
A |
14: 61,440,410 (GRCm39) |
L819I |
probably damaging |
Het |
Sall3 |
C |
T |
18: 81,016,403 (GRCm39) |
M508I |
possibly damaging |
Het |
Scube3 |
G |
A |
17: 28,381,362 (GRCm39) |
C301Y |
probably damaging |
Het |
Sgo2b |
G |
T |
8: 64,380,538 (GRCm39) |
H765N |
probably benign |
Het |
Sh3gl1 |
A |
T |
17: 56,324,617 (GRCm39) |
Y344N |
possibly damaging |
Het |
Slc15a2 |
A |
G |
16: 36,572,683 (GRCm39) |
V635A |
probably benign |
Het |
Slc1a4 |
T |
A |
11: 20,282,114 (GRCm39) |
Y40F |
probably damaging |
Het |
Slc4a10 |
A |
T |
2: 62,117,305 (GRCm39) |
K755* |
probably null |
Het |
Slco1a5 |
C |
T |
6: 142,212,121 (GRCm39) |
G38R |
probably damaging |
Het |
Snx25 |
T |
A |
8: 46,508,892 (GRCm39) |
D564V |
probably damaging |
Het |
Spon1 |
T |
A |
7: 113,486,018 (GRCm39) |
D189E |
probably benign |
Het |
Sptbn5 |
T |
C |
2: 119,896,095 (GRCm39) |
|
probably null |
Het |
Ssbp2 |
A |
G |
13: 91,841,170 (GRCm39) |
I317V |
probably benign |
Het |
Stil |
AAGATTTCCAG |
A |
4: 114,889,911 (GRCm39) |
|
probably null |
Het |
Strn3 |
A |
T |
12: 51,689,881 (GRCm39) |
|
probably null |
Het |
Tcaf2 |
A |
T |
6: 42,619,953 (GRCm39) |
F25I |
probably benign |
Het |
Themis |
C |
T |
10: 28,657,894 (GRCm39) |
T154I |
possibly damaging |
Het |
Ttn |
T |
C |
2: 76,626,390 (GRCm39) |
R13176G |
probably damaging |
Het |
Utp4 |
G |
A |
8: 107,625,095 (GRCm39) |
V125M |
probably damaging |
Het |
Vmn1r119 |
T |
A |
7: 20,745,777 (GRCm39) |
M202L |
possibly damaging |
Het |
Zfp292 |
G |
C |
4: 34,816,301 (GRCm39) |
F329L |
probably benign |
Het |
Zfp541 |
C |
T |
7: 15,829,445 (GRCm39) |
P1281L |
probably damaging |
Het |
Zfp616 |
A |
T |
11: 73,973,968 (GRCm39) |
Q79L |
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 |
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 |
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 |
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'- CTGGTTGCTGTGAGGAAAATC -3'
(R):5'- GCTCAGAGACATATCCATTTGC -3'
Sequencing Primer
(F):5'- GTGAGGAAAATCTAGTAGATGCTTC -3'
(R):5'- CTCAGAGACATATCCATTTGCATAGC -3'
|
Posted On |
2018-06-06 |