Incidental Mutation 'R4595:Hipk3'
| ID |
344306 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Hipk3
|
| Ensembl Gene |
ENSMUSG00000027177 |
| Gene Name |
homeodomain interacting protein kinase 3 |
| Synonyms |
DYRK6, FIST3 |
| MMRRC Submission |
041811-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4595 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
104256826-104324791 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 104271622 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Serine
at position 437
(T437S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000106753
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028600]
[ENSMUST00000111124]
[ENSMUST00000111125]
|
| AlphaFold |
Q9ERH7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000028600
AA Change: T437S
PolyPhen 2
Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
|
| SMART Domains |
Protein: ENSMUSP00000028600
Gene: ENSMUSG00000027177
AA Change: T437S
| 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: T437S
PolyPhen 2
Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
|
| SMART Domains |
Protein: ENSMUSP00000106753
Gene: ENSMUSG00000027177
AA Change: T437S
| 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: T437S
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000106754
Gene: ENSMUSG00000027177
AA Change: T437S
| 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: ENSMUST00000132622
|
| Meta Mutation Damage Score |
0.0770 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.2%
|
| Validation Efficiency |
94% (62/66) |
| 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: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2700049A03Rik |
A |
T |
12: 71,211,321 (GRCm39) |
E685V |
possibly damaging |
Het |
| 2700049A03Rik |
G |
T |
12: 71,211,320 (GRCm39) |
E685* |
probably null |
Het |
| 4921536K21Rik |
A |
G |
11: 3,840,052 (GRCm39) |
I115T |
probably benign |
Het |
| Acads |
A |
T |
5: 115,251,123 (GRCm39) |
N120K |
probably damaging |
Het |
| Aco1 |
T |
A |
4: 40,167,139 (GRCm39) |
C118S |
probably benign |
Het |
| Alpk2 |
T |
C |
18: 65,422,819 (GRCm39) |
T1493A |
probably damaging |
Het |
| AU018091 |
A |
G |
7: 3,208,268 (GRCm39) |
Y480H |
possibly damaging |
Het |
| Brd4 |
A |
T |
17: 32,417,896 (GRCm39) |
I86N |
probably damaging |
Het |
| Ccdc180 |
A |
G |
4: 45,945,023 (GRCm39) |
E1477G |
probably damaging |
Het |
| Ccne2 |
A |
G |
4: 11,202,986 (GRCm39) |
N368S |
probably benign |
Het |
| Cenpp |
A |
T |
13: 49,794,710 (GRCm39) |
F152L |
probably benign |
Het |
| Cfap46 |
T |
A |
7: 139,232,320 (GRCm39) |
D881V |
possibly damaging |
Het |
| Chmp7 |
A |
G |
14: 69,958,678 (GRCm39) |
V212A |
probably damaging |
Het |
| Col9a2 |
A |
T |
4: 120,902,352 (GRCm39) |
K196N |
probably benign |
Het |
| Copg2 |
T |
C |
6: 30,749,449 (GRCm39) |
D814G |
probably damaging |
Het |
| Dcaf13 |
G |
A |
15: 38,982,288 (GRCm39) |
G85R |
probably damaging |
Het |
| Dnah9 |
A |
G |
11: 66,058,978 (GRCm39) |
S106P |
probably benign |
Het |
| Dpp8 |
A |
G |
9: 64,983,085 (GRCm39) |
D739G |
probably damaging |
Het |
| Drd2 |
T |
A |
9: 49,316,089 (GRCm39) |
M283K |
probably benign |
Het |
| Espl1 |
A |
G |
15: 102,207,159 (GRCm39) |
T208A |
probably benign |
Het |
| Glul |
G |
A |
1: 153,778,796 (GRCm39) |
G35D |
possibly damaging |
Het |
| Gm14412 |
T |
C |
2: 177,007,005 (GRCm39) |
K297E |
unknown |
Het |
| Gm21976 |
A |
T |
13: 98,442,318 (GRCm39) |
R120W |
probably damaging |
Het |
| Kcnd3 |
C |
T |
3: 105,566,082 (GRCm39) |
A421V |
probably damaging |
Het |
| Lipn |
T |
G |
19: 34,058,750 (GRCm39) |
Y321D |
probably damaging |
Het |
| Lrwd1 |
A |
G |
5: 136,152,810 (GRCm39) |
V484A |
probably benign |
Het |
| Madd |
T |
C |
2: 90,998,009 (GRCm39) |
D673G |
possibly damaging |
Het |
| Marveld1 |
T |
A |
19: 42,136,203 (GRCm39) |
L39Q |
probably damaging |
Het |
| Mfsd2b |
T |
C |
12: 4,915,807 (GRCm39) |
T299A |
possibly damaging |
Het |
| Micu3 |
T |
C |
8: 40,812,438 (GRCm39) |
|
probably benign |
Het |
| Mmp7 |
T |
C |
9: 7,697,667 (GRCm39) |
V234A |
probably damaging |
Het |
| Nhsl1 |
T |
A |
10: 18,403,357 (GRCm39) |
D1329E |
probably benign |
Het |
| Or4a15 |
C |
T |
2: 89,193,669 (GRCm39) |
V35M |
probably damaging |
Het |
| Or4f14b |
T |
C |
2: 111,774,997 (GRCm39) |
D268G |
possibly damaging |
Het |
| Or52a33 |
A |
G |
7: 103,289,308 (GRCm39) |
F13S |
probably damaging |
Het |
| Pcdhb21 |
T |
A |
18: 37,647,568 (GRCm39) |
D232E |
probably damaging |
Het |
| Pebp1 |
G |
T |
5: 117,421,475 (GRCm39) |
D156E |
probably benign |
Het |
| Pik3cb |
A |
G |
9: 98,937,459 (GRCm39) |
Y745H |
possibly damaging |
Het |
| Pld2 |
T |
C |
11: 70,432,846 (GRCm39) |
L170P |
probably damaging |
Het |
| Ptch1 |
T |
C |
13: 63,691,422 (GRCm39) |
D277G |
possibly damaging |
Het |
| Rab11fip1 |
A |
T |
8: 27,644,603 (GRCm39) |
M394K |
probably damaging |
Het |
| Rhoq |
T |
C |
17: 87,271,754 (GRCm39) |
Y57H |
probably benign |
Het |
| Setbp1 |
T |
C |
18: 78,900,731 (GRCm39) |
I979V |
probably benign |
Het |
| Slc6a4 |
A |
G |
11: 76,910,689 (GRCm39) |
I447V |
probably benign |
Het |
| Sos2 |
T |
C |
12: 69,663,663 (GRCm39) |
K607R |
probably damaging |
Het |
| Stt3a |
T |
C |
9: 36,646,808 (GRCm39) |
I602V |
probably damaging |
Het |
| Syne2 |
A |
T |
12: 76,013,845 (GRCm39) |
Q3012L |
possibly damaging |
Het |
| Taf1b |
T |
A |
12: 24,550,441 (GRCm39) |
F9I |
possibly damaging |
Het |
| Tex35 |
T |
A |
1: 156,926,909 (GRCm39) |
Y195F |
probably benign |
Het |
| Tnc |
T |
C |
4: 63,913,982 (GRCm39) |
T1277A |
probably damaging |
Het |
| Tnfsf15 |
G |
T |
4: 63,648,180 (GRCm39) |
Y153* |
probably null |
Het |
| Trim5 |
C |
A |
7: 103,914,639 (GRCm39) |
V477F |
probably damaging |
Het |
| Trp73 |
A |
G |
4: 154,148,874 (GRCm39) |
I245T |
probably damaging |
Het |
| Zbtb16 |
C |
T |
9: 48,743,380 (GRCm39) |
E311K |
possibly damaging |
Het |
| Zmynd19 |
A |
G |
2: 24,849,000 (GRCm39) |
D165G |
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 |
|
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'- TCATCATGCACACCAGGAG -3'
(R):5'- TGAGGGCATAGATGGTATCATATAG -3'
Sequencing Primer
(F):5'- TCGGACCCCACTACAGATGG -3'
(R):5'- GCATAGATGGTATCATATAGTTGCTG -3'
|
| Posted On |
2015-09-25 |
Incidental Mutation