Incidental Mutation 'IGL02525:Hipk3'
ID |
297021 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Hipk3
|
Ensembl Gene |
ENSMUSG00000027177 |
Gene Name |
homeodomain interacting protein kinase 3 |
Synonyms |
DYRK6, FIST3 |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL02525
|
Quality Score |
|
Status
|
|
Chromosome |
2 |
Chromosomal Location |
104256826-104324791 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 104301757 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 145
(D145G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000106753
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028600]
[ENSMUST00000111124]
[ENSMUST00000111125]
|
AlphaFold |
Q9ERH7 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000028600
AA Change: D145G
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000028600 Gene: ENSMUSG00000027177 AA Change: D145G
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: D145G
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000106753 Gene: ENSMUSG00000027177 AA Change: D145G
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: D145G
PolyPhen 2
Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000106754 Gene: ENSMUSG00000027177 AA Change: D145G
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 |
|
Coding Region Coverage |
|
Validation Efficiency |
|
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: 69 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam18 |
C |
T |
8: 25,101,060 (GRCm39) |
V701I |
probably benign |
Het |
Adam18 |
A |
G |
8: 25,131,783 (GRCm39) |
|
probably benign |
Het |
Adamts20 |
G |
T |
15: 94,180,959 (GRCm39) |
|
probably null |
Het |
Adgrf5 |
G |
T |
17: 43,760,854 (GRCm39) |
V850F |
probably damaging |
Het |
Agap2 |
T |
A |
10: 126,919,070 (GRCm39) |
|
probably null |
Het |
Ap4b1 |
G |
A |
3: 103,720,164 (GRCm39) |
R62K |
probably damaging |
Het |
Atp2a3 |
C |
A |
11: 72,866,165 (GRCm39) |
H262N |
probably benign |
Het |
Ccdc12 |
T |
A |
9: 110,540,169 (GRCm39) |
D120E |
probably damaging |
Het |
Ccdc22 |
A |
G |
X: 7,461,249 (GRCm39) |
S529P |
probably damaging |
Het |
Cilk1 |
A |
G |
9: 78,067,675 (GRCm39) |
K390E |
probably benign |
Het |
Col1a2 |
A |
G |
6: 4,531,355 (GRCm39) |
|
probably benign |
Het |
Ddx59 |
A |
T |
1: 136,344,743 (GRCm39) |
Q138L |
probably benign |
Het |
Dlc1 |
A |
T |
8: 37,046,800 (GRCm39) |
F1091L |
probably damaging |
Het |
Dnah1 |
C |
T |
14: 31,027,790 (GRCm39) |
V682M |
probably benign |
Het |
Dock9 |
C |
T |
14: 121,877,538 (GRCm39) |
D404N |
probably damaging |
Het |
Eif2b4 |
A |
G |
5: 31,346,962 (GRCm39) |
V402A |
probably damaging |
Het |
Erlin1 |
T |
C |
19: 44,027,634 (GRCm39) |
H268R |
probably benign |
Het |
Ermard |
T |
C |
17: 15,279,601 (GRCm39) |
|
probably benign |
Het |
Fam43a |
A |
G |
16: 30,419,596 (GRCm39) |
K60R |
probably benign |
Het |
Frmd4b |
T |
A |
6: 97,389,494 (GRCm39) |
D78V |
probably damaging |
Het |
Gabrq |
A |
G |
X: 71,880,430 (GRCm39) |
T308A |
possibly damaging |
Het |
Gipr |
A |
G |
7: 18,893,690 (GRCm39) |
C328R |
possibly damaging |
Het |
Gm17078 |
T |
C |
14: 51,848,680 (GRCm39) |
N19S |
possibly damaging |
Het |
Gm17541 |
T |
C |
12: 4,739,907 (GRCm39) |
|
probably benign |
Het |
Gm21759 |
T |
C |
5: 8,229,967 (GRCm39) |
|
probably benign |
Het |
Gm7964 |
A |
G |
7: 83,405,250 (GRCm39) |
|
noncoding transcript |
Het |
Gspt1 |
A |
G |
16: 11,048,854 (GRCm39) |
V318A |
probably damaging |
Het |
Gtf2ird2 |
A |
G |
5: 134,245,319 (GRCm39) |
S526G |
probably benign |
Het |
Hey2 |
A |
G |
10: 30,718,643 (GRCm39) |
M1T |
probably null |
Het |
Itgae |
A |
G |
11: 73,021,777 (GRCm39) |
D886G |
probably damaging |
Het |
Ktn1 |
T |
A |
14: 47,962,200 (GRCm39) |
|
probably null |
Het |
Med12l |
A |
G |
3: 58,975,789 (GRCm39) |
K239R |
probably benign |
Het |
Milr1 |
A |
T |
11: 106,656,101 (GRCm39) |
M124L |
probably benign |
Het |
Mon1b |
G |
T |
8: 114,365,455 (GRCm39) |
R261L |
possibly damaging |
Het |
Mterf1a |
G |
A |
5: 3,941,583 (GRCm39) |
S95F |
probably benign |
Het |
Myef2 |
C |
A |
2: 124,955,978 (GRCm39) |
|
probably benign |
Het |
Nfrkb |
T |
A |
9: 31,325,812 (GRCm39) |
I1085N |
possibly damaging |
Het |
Or13f5 |
A |
T |
4: 52,825,616 (GRCm39) |
Y73F |
probably damaging |
Het |
Or8d2 |
T |
A |
9: 38,759,536 (GRCm39) |
M42K |
possibly damaging |
Het |
Prodh |
G |
A |
16: 17,890,332 (GRCm39) |
Q430* |
probably null |
Het |
Pstk |
G |
T |
7: 130,972,922 (GRCm39) |
R7L |
probably benign |
Het |
Ptgr1 |
C |
A |
4: 58,978,067 (GRCm39) |
E108D |
probably benign |
Het |
Ptpn9 |
T |
A |
9: 56,944,009 (GRCm39) |
Y294* |
probably null |
Het |
Rnls |
C |
T |
19: 33,115,614 (GRCm39) |
V153M |
possibly damaging |
Het |
Ros1 |
T |
C |
10: 51,992,138 (GRCm39) |
T1362A |
possibly damaging |
Het |
Samt3 |
G |
A |
X: 85,090,527 (GRCm39) |
A140T |
possibly damaging |
Het |
Sbpl |
T |
A |
17: 24,173,837 (GRCm39) |
M16L |
unknown |
Het |
Sephs1 |
G |
A |
2: 4,911,407 (GRCm39) |
C327Y |
probably damaging |
Het |
Slc13a1 |
A |
T |
6: 24,137,135 (GRCm39) |
I93N |
probably damaging |
Het |
Slc34a1 |
T |
C |
13: 55,551,051 (GRCm39) |
|
probably benign |
Het |
Slc7a9 |
T |
C |
7: 35,152,860 (GRCm39) |
S93P |
probably damaging |
Het |
Slx4 |
A |
G |
16: 3,798,461 (GRCm39) |
S1444P |
probably damaging |
Het |
Spmap2l |
T |
A |
5: 77,164,400 (GRCm39) |
D134E |
probably benign |
Het |
Stk32b |
C |
T |
5: 37,688,977 (GRCm39) |
V116M |
probably damaging |
Het |
Supt5 |
A |
G |
7: 28,018,372 (GRCm39) |
|
probably benign |
Het |
Syne2 |
T |
A |
12: 76,147,777 (GRCm39) |
S6439T |
probably damaging |
Het |
Taar7d |
A |
G |
10: 23,903,994 (GRCm39) |
D292G |
possibly damaging |
Het |
Tal2 |
A |
T |
4: 53,785,971 (GRCm39) |
I51F |
probably damaging |
Het |
Tk2 |
A |
T |
8: 104,970,032 (GRCm39) |
N77K |
probably benign |
Het |
Tmprss3 |
T |
A |
17: 31,413,865 (GRCm39) |
|
probably benign |
Het |
Tnfrsf10b |
T |
C |
14: 70,019,825 (GRCm39) |
M319T |
probably damaging |
Het |
Trim24 |
A |
G |
6: 37,922,653 (GRCm39) |
R417G |
probably damaging |
Het |
Ttn |
C |
A |
2: 76,594,658 (GRCm39) |
G18717* |
probably null |
Het |
Vmn2r102 |
A |
G |
17: 19,901,447 (GRCm39) |
T525A |
probably benign |
Het |
Wdr38 |
A |
T |
2: 38,888,424 (GRCm39) |
N7I |
probably damaging |
Het |
Wnt3 |
C |
T |
11: 103,703,296 (GRCm39) |
R260W |
probably damaging |
Het |
Xdh |
T |
A |
17: 74,231,990 (GRCm39) |
Q240L |
possibly damaging |
Het |
Zbtb5 |
T |
C |
4: 44,994,731 (GRCm39) |
T218A |
probably benign |
Het |
Znfx1 |
C |
T |
2: 166,879,457 (GRCm39) |
E776K |
probably benign |
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 |
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 |
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 |
|
Posted On |
2015-04-16 |