Incidental Mutation 'R7517:Hipk3'
| ID |
582504 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Hipk3
|
| Ensembl Gene |
ENSMUSG00000027177 |
| Gene Name |
homeodomain interacting protein kinase 3 |
| Synonyms |
DYRK6, FIST3 |
| MMRRC Submission |
045590-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7517 (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 104265059 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 674
(T674A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000028600
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028600]
[ENSMUST00000111124]
[ENSMUST00000111125]
|
| AlphaFold |
Q9ERH7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000028600
AA Change: T674A
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000028600
Gene: ENSMUSG00000027177
AA Change: T674A
| 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: T674A
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000106753
Gene: ENSMUSG00000027177
AA Change: T674A
| 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: ENSMUST00000111125
AA Change: T674A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000106754
Gene: ENSMUSG00000027177
AA Change: T674A
| 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: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.8%
|
| Validation Efficiency |
100% (46/46) |
| 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 |
|---|
| Ankrd28 |
A |
T |
14: 31,437,331 (GRCm39) |
V578E |
possibly damaging |
Het |
| Arhgap35 |
A |
T |
7: 16,296,132 (GRCm39) |
C978S |
probably benign |
Het |
| Asph |
A |
T |
4: 9,517,697 (GRCm39) |
V475E |
probably damaging |
Het |
| Atf7ip2 |
T |
A |
16: 10,059,399 (GRCm39) |
|
probably null |
Het |
| Bace1 |
A |
T |
9: 45,771,559 (GRCm39) |
D491V |
probably benign |
Het |
| Birc2 |
A |
G |
9: 7,819,424 (GRCm39) |
I496T |
probably benign |
Het |
| Cacna2d4 |
C |
T |
6: 119,248,882 (GRCm39) |
R448C |
probably benign |
Het |
| Ccdc181 |
T |
C |
1: 164,107,989 (GRCm39) |
F224S |
probably damaging |
Het |
| Cdan1 |
C |
T |
2: 120,558,405 (GRCm39) |
R469Q |
probably damaging |
Het |
| Ddx21 |
G |
A |
10: 62,424,569 (GRCm39) |
P544L |
probably damaging |
Het |
| Epas1 |
C |
A |
17: 87,138,526 (GRCm39) |
T874N |
possibly damaging |
Het |
| Fam13b |
A |
T |
18: 34,627,660 (GRCm39) |
D180E |
probably damaging |
Het |
| Fcgbp |
G |
A |
7: 27,784,794 (GRCm39) |
V285M |
probably damaging |
Het |
| Gcn1 |
T |
G |
5: 115,757,755 (GRCm39) |
L2487V |
probably benign |
Het |
| Gm19410 |
C |
T |
8: 36,240,772 (GRCm39) |
A216V |
possibly damaging |
Het |
| Gm4871 |
G |
T |
5: 144,969,430 (GRCm39) |
R30S |
probably damaging |
Het |
| Gtf2ird1 |
T |
C |
5: 134,391,379 (GRCm39) |
D899G |
probably benign |
Het |
| Hnrnph3 |
A |
G |
10: 62,854,674 (GRCm39) |
L39S |
unknown |
Het |
| Ift122 |
T |
C |
6: 115,867,543 (GRCm39) |
V431A |
probably benign |
Het |
| Il36b |
A |
G |
2: 24,049,890 (GRCm39) |
H167R |
probably benign |
Het |
| Lce3e |
T |
A |
3: 92,875,142 (GRCm39) |
C33S |
unknown |
Het |
| Lrrc26 |
T |
C |
2: 25,180,545 (GRCm39) |
I182T |
probably benign |
Het |
| Magi1 |
T |
C |
6: 93,685,189 (GRCm39) |
R730G |
probably damaging |
Het |
| Meis3 |
G |
T |
7: 15,911,743 (GRCm39) |
V102F |
probably damaging |
Het |
| Mpp7 |
G |
A |
18: 7,440,183 (GRCm39) |
Q263* |
probably null |
Het |
| Myo7b |
A |
T |
18: 32,146,320 (GRCm39) |
I155N |
probably damaging |
Het |
| Nrip1 |
A |
T |
16: 76,088,072 (GRCm39) |
*1162K |
probably null |
Het |
| Or3a1b |
T |
A |
11: 74,012,335 (GRCm39) |
D73E |
probably damaging |
Het |
| Or4k50-ps1 |
T |
C |
2: 111,522,444 (GRCm39) |
F194L |
unknown |
Het |
| Or8i2 |
A |
C |
2: 86,852,486 (GRCm39) |
V134G |
probably benign |
Het |
| Pdik1l |
T |
A |
4: 134,005,736 (GRCm39) |
E326V |
possibly damaging |
Het |
| Phrf1 |
T |
C |
7: 140,836,523 (GRCm39) |
M265T |
unknown |
Het |
| Piezo2 |
A |
T |
18: 63,215,996 (GRCm39) |
N1222K |
possibly damaging |
Het |
| Pkd1 |
G |
A |
17: 24,799,393 (GRCm39) |
V2871M |
probably damaging |
Het |
| Pon2 |
T |
G |
6: 5,268,997 (GRCm39) |
N226H |
possibly damaging |
Het |
| Rftn2 |
G |
T |
1: 55,234,708 (GRCm39) |
D338E |
probably damaging |
Het |
| Rnf123 |
A |
T |
9: 107,947,473 (GRCm39) |
Y171* |
probably null |
Het |
| Ror2 |
A |
T |
13: 53,264,901 (GRCm39) |
N730K |
possibly damaging |
Het |
| Serpinb6c |
T |
A |
13: 34,079,278 (GRCm39) |
N138I |
probably damaging |
Het |
| Smco1 |
A |
T |
16: 32,092,785 (GRCm39) |
H152L |
possibly damaging |
Het |
| Tgm3 |
T |
G |
2: 129,883,684 (GRCm39) |
S447R |
probably benign |
Het |
| Topbp1 |
A |
G |
9: 103,209,932 (GRCm39) |
K860E |
possibly damaging |
Het |
| Uba7 |
C |
A |
9: 107,853,897 (GRCm39) |
|
probably benign |
Het |
| Ucp3 |
A |
G |
7: 100,131,089 (GRCm39) |
N181D |
probably damaging |
Het |
| Unc13b |
C |
A |
4: 43,215,765 (GRCm39) |
S21R |
probably benign |
Het |
| Usp34 |
T |
A |
11: 23,396,968 (GRCm39) |
S2395R |
|
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 |
|
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 |
|
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'- ATCACCGAGTTGTAATGATTGC -3'
(R):5'- AGTCACATGTCAGCCGGTTC -3'
Sequencing Primer
(F):5'- GAATCTCCTTTTTACTGGGATCTG -3'
(R):5'- GAGGGTTCCGTCCTTTCT -3'
|
| Posted On |
2019-10-17 |
Incidental Mutation