Incidental Mutation 'R6285:Hipk3'
ID |
508150 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Hipk3
|
Ensembl Gene |
ENSMUSG00000027177 |
Gene Name |
homeodomain interacting protein kinase 3 |
Synonyms |
DYRK6, FIST3 |
MMRRC Submission |
044455-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R6285 (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 C
at 104301770 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Valine
at position 141
(M141V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000106754
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028600]
[ENSMUST00000111124]
[ENSMUST00000111125]
|
AlphaFold |
Q9ERH7 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000028600
AA Change: M141V
PolyPhen 2
Score 0.062 (Sensitivity: 0.94; Specificity: 0.84)
|
SMART Domains |
Protein: ENSMUSP00000028600 Gene: ENSMUSG00000027177 AA Change: M141V
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: M141V
PolyPhen 2
Score 0.062 (Sensitivity: 0.94; Specificity: 0.84)
|
SMART Domains |
Protein: ENSMUSP00000106753 Gene: ENSMUSG00000027177 AA Change: M141V
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: M141V
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000106754 Gene: ENSMUSG00000027177 AA Change: M141V
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 |
- 1x: 99.9%
- 3x: 99.8%
- 10x: 98.8%
- 20x: 96.9%
|
Validation Efficiency |
100% (68/68) |
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 |
Acad9 |
A |
T |
3: 36,136,324 (GRCm39) |
M370L |
probably benign |
Het |
Aimp1 |
A |
G |
3: 132,373,265 (GRCm39) |
M225T |
possibly damaging |
Het |
Atp8a1 |
T |
C |
5: 67,824,950 (GRCm39) |
I809V |
possibly damaging |
Het |
Bbs10 |
A |
G |
10: 111,135,622 (GRCm39) |
Y245C |
probably damaging |
Het |
Cabin1 |
A |
T |
10: 75,520,157 (GRCm39) |
F1572Y |
probably damaging |
Het |
Cd79a |
A |
G |
7: 24,598,772 (GRCm39) |
N107S |
possibly damaging |
Het |
Cdc7 |
G |
A |
5: 107,130,925 (GRCm39) |
A428T |
probably benign |
Het |
Cep290 |
A |
G |
10: 100,359,191 (GRCm39) |
T974A |
probably benign |
Het |
Cep350 |
A |
T |
1: 155,829,120 (GRCm39) |
N261K |
possibly damaging |
Het |
Cfap46 |
T |
A |
7: 139,241,001 (GRCm39) |
D8V |
probably damaging |
Het |
Col6a4 |
T |
C |
9: 105,952,185 (GRCm39) |
D571G |
probably damaging |
Het |
Cpe |
A |
C |
8: 65,070,645 (GRCm39) |
V200G |
probably benign |
Het |
Ctnnd1 |
C |
T |
2: 84,444,231 (GRCm39) |
|
probably null |
Het |
D5Ertd579e |
A |
C |
5: 36,772,921 (GRCm39) |
C491W |
probably damaging |
Het |
Dek |
A |
G |
13: 47,252,856 (GRCm39) |
I183T |
probably damaging |
Het |
Dennd1a |
A |
T |
2: 37,742,453 (GRCm39) |
H437Q |
possibly damaging |
Het |
Dido1 |
C |
T |
2: 180,302,940 (GRCm39) |
A1655T |
probably benign |
Het |
Eva1b |
A |
G |
4: 126,043,278 (GRCm39) |
D106G |
probably damaging |
Het |
Evc2 |
G |
T |
5: 37,581,923 (GRCm39) |
S1189I |
possibly damaging |
Het |
Faap100 |
A |
T |
11: 120,267,558 (GRCm39) |
L405Q |
probably damaging |
Het |
Fbxw15 |
T |
A |
9: 109,386,234 (GRCm39) |
M249L |
probably benign |
Het |
Gbp10 |
A |
T |
5: 105,366,326 (GRCm39) |
L526Q |
probably damaging |
Het |
Gm19402 |
A |
C |
10: 77,526,354 (GRCm39) |
|
probably benign |
Het |
Gm2244 |
A |
G |
14: 19,590,865 (GRCm39) |
Y141H |
probably damaging |
Het |
Gm4181 |
A |
T |
14: 51,870,666 (GRCm39) |
N98K |
probably damaging |
Het |
Golga4 |
C |
T |
9: 118,387,695 (GRCm39) |
R616* |
probably null |
Het |
Gpank1 |
T |
A |
17: 35,343,266 (GRCm39) |
S226T |
probably damaging |
Het |
Hoxc11 |
T |
C |
15: 102,863,178 (GRCm39) |
V73A |
probably benign |
Het |
Igf1r |
T |
G |
7: 67,653,885 (GRCm39) |
I141S |
possibly damaging |
Het |
Jak2 |
T |
A |
19: 29,273,059 (GRCm39) |
F628I |
probably benign |
Het |
Kcp |
C |
A |
6: 29,502,364 (GRCm39) |
V227L |
probably benign |
Het |
Knl1 |
T |
G |
2: 118,902,422 (GRCm39) |
C1374W |
probably damaging |
Het |
Larp6 |
A |
T |
9: 60,645,043 (GRCm39) |
R394S |
probably benign |
Het |
Lilra5 |
G |
A |
7: 4,245,114 (GRCm39) |
G253R |
probably damaging |
Het |
Map3k4 |
A |
G |
17: 12,482,945 (GRCm39) |
S591P |
probably damaging |
Het |
Mdfic2 |
T |
C |
6: 98,215,134 (GRCm39) |
D163G |
probably damaging |
Het |
Minar2 |
A |
G |
18: 59,205,296 (GRCm39) |
K28R |
probably benign |
Het |
Mrpl16 |
T |
A |
19: 11,750,332 (GRCm39) |
I72K |
probably damaging |
Het |
Nol11 |
C |
G |
11: 107,071,860 (GRCm39) |
R244S |
probably benign |
Het |
Nr2f1 |
T |
C |
13: 78,343,782 (GRCm39) |
T161A |
probably benign |
Het |
Nrdc |
G |
T |
4: 108,895,203 (GRCm39) |
V476F |
probably damaging |
Het |
Or10j7 |
G |
T |
1: 173,011,477 (GRCm39) |
H175N |
probably damaging |
Het |
Or10z1 |
A |
T |
1: 174,078,395 (GRCm39) |
S33T |
possibly damaging |
Het |
Or13a22 |
T |
A |
7: 140,072,626 (GRCm39) |
L25Q |
possibly damaging |
Het |
Or13m2-ps1 |
A |
T |
6: 42,777,843 (GRCm39) |
H56L |
probably benign |
Het |
P2rx1 |
A |
G |
11: 72,898,974 (GRCm39) |
I62V |
probably benign |
Het |
Pcdhgc5 |
A |
T |
18: 37,953,674 (GRCm39) |
Y316F |
probably benign |
Het |
Pecam1 |
T |
C |
11: 106,576,065 (GRCm39) |
D490G |
probably benign |
Het |
Pfkfb2 |
A |
T |
1: 130,635,299 (GRCm39) |
Y87* |
probably null |
Het |
Poldip2 |
A |
G |
11: 78,408,458 (GRCm39) |
|
probably null |
Het |
Ppp2r5b |
T |
A |
19: 6,280,566 (GRCm39) |
Q304L |
probably benign |
Het |
Pramel26 |
A |
G |
4: 143,542,609 (GRCm39) |
C4R |
probably damaging |
Het |
Psg26 |
A |
G |
7: 18,216,753 (GRCm39) |
F29L |
probably benign |
Het |
Ptk6 |
A |
T |
2: 180,838,886 (GRCm39) |
L289Q |
probably null |
Het |
Ptprt |
A |
T |
2: 161,743,417 (GRCm39) |
I508N |
possibly damaging |
Het |
Rasgrp4 |
T |
C |
7: 28,847,808 (GRCm39) |
F406S |
probably damaging |
Het |
Rspo3 |
A |
G |
10: 29,375,926 (GRCm39) |
|
probably null |
Het |
Septin8 |
G |
T |
11: 53,425,594 (GRCm39) |
|
probably null |
Het |
Sirt2 |
A |
C |
7: 28,487,471 (GRCm39) |
T345P |
probably benign |
Het |
Slc6a20b |
T |
C |
9: 123,438,161 (GRCm39) |
E205G |
possibly damaging |
Het |
Sqstm1 |
G |
A |
11: 50,093,418 (GRCm39) |
Q327* |
probably null |
Het |
Susd3 |
T |
A |
13: 49,390,997 (GRCm39) |
S98C |
probably damaging |
Het |
Tada2b |
G |
A |
5: 36,634,186 (GRCm39) |
R56W |
probably damaging |
Het |
Tbc1d2 |
A |
T |
4: 46,615,045 (GRCm39) |
V546E |
possibly damaging |
Het |
Tbx6 |
A |
G |
7: 126,380,740 (GRCm39) |
Q21R |
possibly damaging |
Het |
Usp24 |
T |
G |
4: 106,231,297 (GRCm39) |
|
probably null |
Het |
Vinac1 |
T |
G |
2: 128,879,719 (GRCm39) |
T736P |
possibly damaging |
Het |
Vmn2r103 |
A |
G |
17: 20,032,406 (GRCm39) |
T727A |
probably benign |
Het |
Wdr48 |
C |
T |
9: 119,749,676 (GRCm39) |
T531M |
probably 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 |
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'- CAGCATTTGACAACCTGGCC -3'
(R):5'- CCATTGTTGTCAAAGACACTGC -3'
Sequencing Primer
(F):5'- TTTGACAACCTGGCCAAAAGTG -3'
(R):5'- ACTGCCGGTGCTACAAAG -3'
|
Posted On |
2018-03-15 |