Incidental Mutation 'IGL02959:Hipk3'
| ID |
365264 |
| 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 # |
IGL02959
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
104256826-104324791 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 104301604 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Methionine
at position 196
(T196M)
|
| 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: T196M
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000028600
Gene: ENSMUSG00000027177
AA Change: T196M
| 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: T196M
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000106753
Gene: ENSMUSG00000027177
AA Change: T196M
| 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: T196M
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000106754
Gene: ENSMUSG00000027177
AA Change: T196M
| 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: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A2ml1 |
G |
T |
6: 128,544,023 (GRCm39) |
A506D |
probably benign |
Het |
| Agap1 |
G |
T |
1: 89,770,913 (GRCm39) |
V635L |
possibly damaging |
Het |
| Akr1c12 |
T |
C |
13: 4,329,331 (GRCm39) |
K9E |
probably benign |
Het |
| Alms1 |
T |
A |
6: 85,606,034 (GRCm39) |
Y2561* |
probably null |
Het |
| Atm |
T |
C |
9: 53,382,718 (GRCm39) |
H1957R |
probably damaging |
Het |
| Bcr |
T |
C |
10: 74,996,222 (GRCm39) |
F922S |
probably benign |
Het |
| Cfap44 |
T |
A |
16: 44,291,230 (GRCm39) |
|
probably benign |
Het |
| Chil5 |
A |
G |
3: 105,926,906 (GRCm39) |
V243A |
probably damaging |
Het |
| Csmd1 |
A |
G |
8: 15,960,465 (GRCm39) |
C3317R |
probably damaging |
Het |
| Dsc1 |
T |
C |
18: 20,241,942 (GRCm39) |
K133R |
probably damaging |
Het |
| Ecm1 |
T |
A |
3: 95,644,989 (GRCm39) |
Q136L |
probably damaging |
Het |
| Fscn3 |
C |
A |
6: 28,435,997 (GRCm39) |
A431E |
possibly damaging |
Het |
| Gas7 |
C |
T |
11: 67,565,061 (GRCm39) |
|
probably benign |
Het |
| Gbx2 |
A |
G |
1: 89,856,517 (GRCm39) |
V291A |
probably damaging |
Het |
| Il20ra |
T |
A |
10: 19,634,789 (GRCm39) |
N343K |
probably benign |
Het |
| Il24 |
C |
T |
1: 130,813,470 (GRCm39) |
W42* |
probably null |
Het |
| Kif13b |
A |
T |
14: 65,005,166 (GRCm39) |
I1153F |
probably damaging |
Het |
| Krt1c |
A |
T |
15: 101,719,763 (GRCm39) |
S636T |
unknown |
Het |
| Or11g24 |
A |
T |
14: 50,662,389 (GRCm39) |
M138L |
possibly damaging |
Het |
| Or13a25 |
C |
T |
7: 140,247,463 (GRCm39) |
P81S |
probably damaging |
Het |
| Or14c40 |
T |
C |
7: 86,313,737 (GRCm39) |
F289S |
probably damaging |
Het |
| Or4k52 |
T |
A |
2: 111,610,955 (GRCm39) |
C97S |
probably damaging |
Het |
| Or6d15 |
A |
T |
6: 116,559,505 (GRCm39) |
M134K |
probably damaging |
Het |
| Osmr |
T |
C |
15: 6,845,378 (GRCm39) |
D796G |
possibly damaging |
Het |
| Peli2 |
A |
T |
14: 48,477,754 (GRCm39) |
T99S |
probably benign |
Het |
| Pi4k2a |
A |
T |
19: 42,101,510 (GRCm39) |
K317N |
probably benign |
Het |
| Pik3r1 |
T |
G |
13: 101,894,037 (GRCm39) |
D44A |
probably benign |
Het |
| Pkhd1 |
G |
T |
1: 20,678,640 (GRCm39) |
S96* |
probably null |
Het |
| Plekha5 |
A |
G |
6: 140,489,904 (GRCm39) |
E9G |
probably damaging |
Het |
| Plekha8 |
T |
C |
6: 54,592,254 (GRCm39) |
F71S |
probably damaging |
Het |
| Polq |
G |
T |
16: 36,906,928 (GRCm39) |
L2296F |
probably damaging |
Het |
| Rbm5 |
G |
A |
9: 107,631,384 (GRCm39) |
|
probably benign |
Het |
| Rc3h2 |
T |
C |
2: 37,295,366 (GRCm39) |
K217E |
probably damaging |
Het |
| Scrib |
A |
G |
15: 75,937,056 (GRCm39) |
L350P |
probably damaging |
Het |
| Slc4a10 |
T |
A |
2: 62,098,487 (GRCm39) |
S540R |
probably damaging |
Het |
| Smc3 |
G |
T |
19: 53,611,988 (GRCm39) |
V354L |
probably benign |
Het |
| Smurf1 |
T |
A |
5: 144,836,199 (GRCm39) |
I105F |
probably damaging |
Het |
| Stx7 |
G |
T |
10: 24,031,247 (GRCm39) |
R17L |
probably benign |
Het |
| Tbca |
C |
T |
13: 94,979,203 (GRCm39) |
R74C |
probably benign |
Het |
| Tmem92 |
T |
C |
11: 94,669,504 (GRCm39) |
Q153R |
possibly damaging |
Het |
| Trim41 |
C |
A |
11: 48,698,307 (GRCm39) |
G553V |
probably damaging |
Het |
| Trim75 |
A |
T |
8: 65,435,417 (GRCm39) |
N344K |
possibly damaging |
Het |
| Tsr1 |
A |
G |
11: 74,791,075 (GRCm39) |
D218G |
probably benign |
Het |
| Ubr2 |
A |
C |
17: 47,286,877 (GRCm39) |
V474G |
probably damaging |
Het |
| Unc45a |
T |
G |
7: 79,982,721 (GRCm39) |
|
probably benign |
Het |
| Zfp609 |
C |
T |
9: 65,610,675 (GRCm39) |
A763T |
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 |
|
IGL02525:Hipk3
|
APN |
2 |
104,301,757 (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 |
2015-12-18 |
Incidental Mutation