Incidental Mutation 'R0367:Hipk3'
ID |
30260 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Hipk3
|
Ensembl Gene |
ENSMUSG00000027177 |
Gene Name |
homeodomain interacting protein kinase 3 |
Synonyms |
DYRK6, FIST3 |
MMRRC Submission |
038573-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R0367 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
104256826-104324791 bp(-) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
A to T
at 104261594 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Cysteine to Stop codon
at position 980
(C980*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000106754
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028600]
[ENSMUST00000111124]
[ENSMUST00000111125]
|
AlphaFold |
Q9ERH7 |
Predicted Effect |
probably null
Transcript: ENSMUST00000028600
AA Change: C959*
|
SMART Domains |
Protein: ENSMUSP00000028600 Gene: ENSMUSG00000027177 AA Change: C959*
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 null
Transcript: ENSMUST00000111124
AA Change: C959*
|
SMART Domains |
Protein: ENSMUSP00000106753 Gene: ENSMUSG00000027177 AA Change: C959*
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 null
Transcript: ENSMUST00000111125
AA Change: C980*
|
SMART Domains |
Protein: ENSMUSP00000106754 Gene: ENSMUSG00000027177 AA Change: C980*
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
|
Meta Mutation Damage Score |
0.9755 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.2%
- 10x: 96.0%
- 20x: 91.8%
|
Validation Efficiency |
100% (60/60) |
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: 58 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aasdh |
A |
G |
5: 77,049,961 (GRCm39) |
S12P |
probably damaging |
Het |
Alx4 |
T |
A |
2: 93,498,953 (GRCm39) |
D228E |
probably damaging |
Het |
Antxr2 |
T |
C |
5: 98,177,455 (GRCm39) |
E71G |
probably benign |
Het |
Arhgap19 |
C |
A |
19: 41,790,417 (GRCm39) |
G17V |
probably benign |
Het |
C8a |
A |
C |
4: 104,719,791 (GRCm39) |
|
probably null |
Het |
Ccne2 |
T |
A |
4: 11,201,426 (GRCm39) |
|
probably benign |
Het |
Cdc42bpg |
G |
A |
19: 6,361,425 (GRCm39) |
C317Y |
probably damaging |
Het |
Cend1 |
C |
A |
7: 141,007,808 (GRCm39) |
R4L |
probably damaging |
Het |
Cfap44 |
T |
C |
16: 44,253,839 (GRCm39) |
|
probably null |
Het |
Cpt1c |
T |
C |
7: 44,608,999 (GRCm39) |
N774S |
probably benign |
Het |
Csmd1 |
C |
T |
8: 15,967,270 (GRCm39) |
D3198N |
probably damaging |
Het |
Dapk2 |
C |
T |
9: 66,176,168 (GRCm39) |
S323F |
probably damaging |
Het |
Ddx60 |
T |
G |
8: 62,470,783 (GRCm39) |
I1425R |
possibly damaging |
Het |
Edem1 |
T |
A |
6: 108,823,713 (GRCm39) |
Y370N |
probably damaging |
Het |
Elp5 |
A |
G |
11: 69,865,967 (GRCm39) |
V103A |
probably benign |
Het |
Fads1 |
C |
T |
19: 10,160,429 (GRCm39) |
P5L |
probably benign |
Het |
Fat1 |
A |
G |
8: 45,477,350 (GRCm39) |
D2132G |
probably damaging |
Het |
Fat2 |
A |
T |
11: 55,182,919 (GRCm39) |
|
probably benign |
Het |
G3bp1 |
T |
C |
11: 55,389,452 (GRCm39) |
F383L |
probably damaging |
Het |
Gp2 |
C |
T |
7: 119,053,791 (GRCm39) |
D57N |
probably damaging |
Het |
Gpr161 |
T |
C |
1: 165,144,805 (GRCm39) |
|
probably benign |
Het |
Gstcd |
G |
A |
3: 132,692,138 (GRCm39) |
|
probably benign |
Het |
Htr2a |
A |
T |
14: 74,879,649 (GRCm39) |
I93L |
probably damaging |
Het |
Itpr2 |
T |
G |
6: 146,135,506 (GRCm39) |
K1775N |
probably damaging |
Het |
Kcnt1 |
G |
A |
2: 25,797,640 (GRCm39) |
V864I |
probably damaging |
Het |
Kcnt2 |
A |
T |
1: 140,278,963 (GRCm39) |
Y38F |
probably damaging |
Het |
Limch1 |
G |
A |
5: 67,015,297 (GRCm39) |
|
probably null |
Het |
Lmtk2 |
C |
T |
5: 144,111,103 (GRCm39) |
R608C |
possibly damaging |
Het |
Loxhd1 |
C |
T |
18: 77,513,453 (GRCm39) |
|
probably benign |
Het |
Lpin2 |
A |
T |
17: 71,522,017 (GRCm39) |
E17V |
probably damaging |
Het |
Lrrc34 |
A |
T |
3: 30,684,142 (GRCm39) |
F342I |
probably benign |
Het |
Lyzl6 |
A |
G |
11: 103,527,578 (GRCm39) |
|
probably null |
Het |
Map3k4 |
A |
C |
17: 12,476,928 (GRCm39) |
|
probably benign |
Het |
Mocs3 |
C |
T |
2: 168,073,602 (GRCm39) |
P350S |
probably benign |
Het |
Myrf |
G |
C |
19: 10,195,526 (GRCm39) |
T428S |
probably benign |
Het |
Naip2 |
A |
C |
13: 100,298,290 (GRCm39) |
I582S |
probably benign |
Het |
Or1ad8 |
A |
G |
11: 50,897,904 (GRCm39) |
Y35C |
probably damaging |
Het |
Or4c52 |
A |
C |
2: 89,846,116 (GRCm39) |
I281L |
probably damaging |
Het |
Or7e168 |
G |
T |
9: 19,719,839 (GRCm39) |
S75I |
probably damaging |
Het |
Pcare |
G |
T |
17: 72,057,471 (GRCm39) |
F735L |
probably damaging |
Het |
Pdzrn4 |
A |
G |
15: 92,655,538 (GRCm39) |
E477G |
possibly damaging |
Het |
Rab5b |
C |
T |
10: 128,518,772 (GRCm39) |
R120Q |
probably benign |
Het |
Rims2 |
G |
T |
15: 39,326,011 (GRCm39) |
|
probably null |
Het |
Samd4b |
C |
T |
7: 28,122,873 (GRCm39) |
A62T |
probably damaging |
Het |
Scamp1 |
T |
C |
13: 94,347,088 (GRCm39) |
N192S |
probably benign |
Het |
Scnn1g |
T |
C |
7: 121,345,802 (GRCm39) |
|
probably benign |
Het |
Setd1a |
T |
G |
7: 127,387,358 (GRCm39) |
|
probably benign |
Het |
Setdb1 |
A |
G |
3: 95,257,192 (GRCm39) |
|
probably benign |
Het |
Slc2a7 |
T |
C |
4: 150,250,823 (GRCm39) |
S415P |
probably benign |
Het |
Sp140l2 |
G |
T |
1: 85,247,824 (GRCm39) |
|
probably benign |
Het |
Strip2 |
A |
T |
6: 29,937,650 (GRCm39) |
Y526F |
possibly damaging |
Het |
Styxl2 |
T |
A |
1: 165,928,332 (GRCm39) |
T427S |
probably benign |
Het |
Syne2 |
A |
G |
12: 75,926,951 (GRCm39) |
D69G |
probably damaging |
Het |
Syt13 |
C |
A |
2: 92,745,596 (GRCm39) |
A22E |
probably benign |
Het |
Tm9sf2 |
T |
C |
14: 122,392,780 (GRCm39) |
F432S |
probably benign |
Het |
Vmn2r49 |
A |
T |
7: 9,710,357 (GRCm39) |
W792R |
probably damaging |
Het |
Zfp292 |
T |
C |
4: 34,808,227 (GRCm39) |
S1606G |
probably benign |
Het |
Zfp518a |
A |
T |
19: 40,900,665 (GRCm39) |
H198L |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- GCTGGCATGTAGAATCTGGCAACAA -3'
(R):5'- TGAATAGAGTCTGGAAATTCTGTGGGGA -3'
Sequencing Primer
(F):5'- CCTGTGTAATAGACATGACAAGGTC -3'
(R):5'- GTGTGCTGAAGACTACTAATTGAC -3'
|
Posted On |
2013-04-24 |