Incidental Mutation 'IGL02089:Hipk3'
| ID |
279361 |
| 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 # |
IGL02089
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
104256826-104324791 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 104261724 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 937
(D937G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000106754
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028600]
[ENSMUST00000111124]
[ENSMUST00000111125]
|
| AlphaFold |
Q9ERH7 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000028600
AA Change: D916G
PolyPhen 2
Score 0.889 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000028600
Gene: ENSMUSG00000027177
AA Change: D916G
| 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: D916G
PolyPhen 2
Score 0.889 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000106753
Gene: ENSMUSG00000027177
AA Change: D916G
| 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: D937G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000106754
Gene: ENSMUSG00000027177
AA Change: D937G
| 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: ENSMUST00000122567
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000132622
|
| 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: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9330160F10Rik |
C |
T |
11: 68,951,013 (GRCm39) |
|
silent |
Het |
| Adck1 |
G |
T |
12: 88,413,480 (GRCm39) |
V271F |
probably damaging |
Het |
| Aggf1 |
T |
C |
13: 95,507,437 (GRCm39) |
D116G |
probably benign |
Het |
| Anapc1 |
A |
T |
2: 128,505,853 (GRCm39) |
V661E |
probably damaging |
Het |
| Apoa5 |
T |
C |
9: 46,180,437 (GRCm39) |
|
probably null |
Het |
| Atp8a2 |
C |
T |
14: 60,264,369 (GRCm39) |
|
probably null |
Het |
| Bnipl |
A |
T |
3: 95,157,577 (GRCm39) |
|
probably benign |
Het |
| Cbs |
T |
G |
17: 31,834,519 (GRCm39) |
D490A |
probably benign |
Het |
| Chrdl1 |
G |
T |
X: 142,086,510 (GRCm39) |
H199N |
possibly damaging |
Het |
| Dcaf1 |
C |
T |
9: 106,740,310 (GRCm39) |
T1232I |
probably benign |
Het |
| Ddx19b |
T |
C |
8: 111,735,477 (GRCm39) |
|
probably benign |
Het |
| Ephb4 |
A |
G |
5: 137,369,024 (GRCm39) |
K805E |
probably damaging |
Het |
| Ergic3 |
A |
G |
2: 155,852,395 (GRCm39) |
N135D |
probably benign |
Het |
| Fbxw18 |
C |
T |
9: 109,530,390 (GRCm39) |
V74I |
probably benign |
Het |
| Fmo4 |
G |
T |
1: 162,626,649 (GRCm39) |
T299N |
probably benign |
Het |
| Gmeb1 |
T |
C |
4: 131,953,147 (GRCm39) |
K540E |
probably damaging |
Het |
| H60c |
T |
A |
10: 3,209,826 (GRCm39) |
S154C |
possibly damaging |
Het |
| Herc1 |
T |
C |
9: 66,388,151 (GRCm39) |
L3812S |
probably damaging |
Het |
| Ift122 |
A |
G |
6: 115,902,398 (GRCm39) |
D1079G |
probably benign |
Het |
| Il6st |
T |
C |
13: 112,631,774 (GRCm39) |
W438R |
probably benign |
Het |
| Lypla2 |
C |
T |
4: 135,696,932 (GRCm39) |
V117I |
probably benign |
Het |
| Mapk8ip1 |
T |
C |
2: 92,216,220 (GRCm39) |
Y516C |
probably damaging |
Het |
| Mmp24 |
G |
A |
2: 155,654,213 (GRCm39) |
G397D |
probably damaging |
Het |
| Muc4 |
G |
A |
16: 32,570,131 (GRCm39) |
S397N |
possibly damaging |
Het |
| Muc5b |
T |
G |
7: 141,416,987 (GRCm39) |
V3311G |
probably benign |
Het |
| Naca |
A |
G |
10: 127,872,358 (GRCm39) |
|
probably benign |
Het |
| Nrxn1 |
A |
G |
17: 91,395,829 (GRCm39) |
V109A |
probably benign |
Het |
| Nup210 |
T |
G |
6: 91,053,680 (GRCm39) |
D279A |
probably benign |
Het |
| Or10g6 |
A |
T |
9: 39,934,066 (GRCm39) |
I126F |
probably damaging |
Het |
| Or8h7 |
A |
G |
2: 86,721,460 (GRCm39) |
S20P |
possibly damaging |
Het |
| Pappa |
T |
A |
4: 65,074,361 (GRCm39) |
V305E |
possibly damaging |
Het |
| Pcdh19 |
A |
T |
X: 132,489,245 (GRCm39) |
M977K |
probably benign |
Het |
| Pdzph1 |
T |
A |
17: 59,274,334 (GRCm39) |
I837F |
possibly damaging |
Het |
| Phip |
A |
T |
9: 82,753,372 (GRCm39) |
L1791M |
probably damaging |
Het |
| Pkdrej |
C |
T |
15: 85,700,489 (GRCm39) |
V1816I |
possibly damaging |
Het |
| Ptprz1 |
G |
A |
6: 23,033,447 (GRCm39) |
V1063M |
probably damaging |
Het |
| Qprt |
A |
T |
7: 126,707,528 (GRCm39) |
M220K |
probably damaging |
Het |
| R3hcc1 |
T |
C |
14: 69,937,475 (GRCm39) |
K391E |
possibly damaging |
Het |
| Rbbp7 |
C |
A |
X: 161,554,052 (GRCm39) |
P162Q |
probably benign |
Het |
| Rev3l |
A |
T |
10: 39,701,095 (GRCm39) |
N1864I |
probably damaging |
Het |
| Rims1 |
A |
G |
1: 22,669,556 (GRCm39) |
I84T |
possibly damaging |
Het |
| Rnase2b |
A |
T |
14: 51,400,240 (GRCm39) |
K107I |
probably benign |
Het |
| Sbf1 |
C |
A |
15: 89,186,708 (GRCm39) |
E864* |
probably null |
Het |
| Strip2 |
G |
A |
6: 29,917,179 (GRCm39) |
|
probably benign |
Het |
| Stx4a |
T |
C |
7: 127,447,570 (GRCm39) |
I238T |
probably damaging |
Het |
| Tbc1d2b |
C |
T |
9: 90,104,412 (GRCm39) |
V577I |
possibly damaging |
Het |
| Tex38 |
T |
C |
4: 115,637,591 (GRCm39) |
T71A |
possibly damaging |
Het |
| Usp38 |
T |
C |
8: 81,712,343 (GRCm39) |
E564G |
possibly damaging |
Het |
| Vmn2r72 |
A |
T |
7: 85,387,374 (GRCm39) |
V730E |
probably benign |
Het |
| Wwp2 |
T |
A |
8: 108,280,689 (GRCm39) |
L644Q |
probably damaging |
Het |
| Zfp267 |
T |
C |
3: 36,218,877 (GRCm39) |
F300S |
possibly damaging |
Het |
| Zpld1 |
A |
G |
16: 55,071,974 (GRCm39) |
I95T |
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 |
|
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 |
|
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 |
Incidental Mutation