Incidental Mutation 'R6214:Hipk3'
| ID |
503603 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Hipk3
|
| Ensembl Gene |
ENSMUSG00000027177 |
| Gene Name |
homeodomain interacting protein kinase 3 |
| Synonyms |
DYRK6, FIST3 |
| MMRRC Submission |
044347-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6214 (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 104264086 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 804
(D804G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000106753
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028600]
[ENSMUST00000111124]
[ENSMUST00000111125]
|
| AlphaFold |
Q9ERH7 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000028600
AA Change: D804G
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000028600
Gene: ENSMUSG00000027177
AA Change: D804G
| 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: ENSMUST00000111124
AA Change: D804G
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000106753
Gene: ENSMUSG00000027177
AA Change: D804G
| 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: D825G
PolyPhen 2
Score 0.070 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000106754
Gene: ENSMUSG00000027177
AA Change: D825G
| 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 |
0.0782 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.3%
- 20x: 97.8%
|
| Validation Efficiency |
97% (37/38) |
| 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: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Asap3 |
A |
C |
4: 135,968,736 (GRCm39) |
D727A |
possibly damaging |
Het |
| Aste1 |
A |
G |
9: 105,274,056 (GRCm39) |
K38E |
probably damaging |
Het |
| Atp13a5 |
T |
C |
16: 29,070,159 (GRCm39) |
Y909C |
probably damaging |
Het |
| Ccdc13 |
A |
G |
9: 121,627,975 (GRCm39) |
|
probably benign |
Het |
| Cd79b |
C |
A |
11: 106,203,267 (GRCm39) |
|
probably null |
Het |
| Chia1 |
T |
C |
3: 106,029,761 (GRCm39) |
F132L |
probably damaging |
Het |
| Cntrl |
A |
G |
2: 35,019,646 (GRCm39) |
E491G |
probably benign |
Het |
| Ctdnep1 |
T |
C |
11: 69,880,334 (GRCm39) |
F206L |
probably damaging |
Het |
| Dido1 |
T |
C |
2: 180,303,945 (GRCm39) |
K1320E |
probably damaging |
Het |
| Dmbt1 |
G |
T |
7: 130,668,463 (GRCm39) |
C573F |
possibly damaging |
Het |
| Dmtn |
A |
G |
14: 70,850,776 (GRCm39) |
I205T |
probably benign |
Het |
| Eif4g3 |
C |
T |
4: 137,785,314 (GRCm39) |
H137Y |
probably damaging |
Het |
| Flg2 |
G |
T |
3: 93,109,166 (GRCm39) |
C398F |
possibly damaging |
Het |
| Gabbr1 |
A |
G |
17: 37,380,257 (GRCm39) |
D604G |
probably damaging |
Het |
| Glis2 |
T |
A |
16: 4,428,197 (GRCm39) |
L83* |
probably null |
Het |
| Glra3 |
A |
G |
8: 56,444,291 (GRCm39) |
|
probably null |
Het |
| Kcnd1 |
G |
C |
X: 7,690,148 (GRCm39) |
A23P |
probably damaging |
Homo |
| Lrrc9 |
A |
T |
12: 72,506,627 (GRCm39) |
E301D |
probably damaging |
Het |
| Ms4a6c |
T |
C |
19: 11,448,500 (GRCm39) |
I11T |
possibly damaging |
Het |
| Myo1d |
A |
T |
11: 80,670,617 (GRCm39) |
M1K |
probably null |
Het |
| Nav3 |
A |
G |
10: 109,688,426 (GRCm39) |
L617P |
probably damaging |
Het |
| Or8b3b |
A |
G |
9: 38,584,510 (GRCm39) |
S90P |
probably benign |
Het |
| Pcsk7 |
A |
C |
9: 45,821,674 (GRCm39) |
N156T |
possibly damaging |
Het |
| Pde4d |
C |
T |
13: 110,085,967 (GRCm39) |
S515L |
probably damaging |
Het |
| Pira13 |
A |
G |
7: 3,824,717 (GRCm39) |
I554T |
probably damaging |
Het |
| Prom2 |
A |
G |
2: 127,381,695 (GRCm39) |
|
probably null |
Het |
| Rsf1 |
G |
GACGGCGGCA |
7: 97,229,116 (GRCm39) |
|
probably benign |
Het |
| Scn3a |
T |
C |
2: 65,325,380 (GRCm39) |
I1046V |
probably benign |
Het |
| Slc13a1 |
A |
T |
6: 24,090,795 (GRCm39) |
Y541* |
probably null |
Het |
| Speer1d |
C |
T |
5: 11,307,197 (GRCm39) |
T25I |
probably damaging |
Het |
| Spen |
C |
T |
4: 141,206,423 (GRCm39) |
E735K |
unknown |
Het |
| Tm6sf2 |
T |
C |
8: 70,525,724 (GRCm39) |
V27A |
possibly damaging |
Het |
| Trim21 |
A |
G |
7: 102,208,646 (GRCm39) |
S358P |
probably damaging |
Het |
| Ttc21a |
A |
G |
9: 119,795,838 (GRCm39) |
Y1224C |
probably damaging |
Het |
| Ttn |
T |
A |
2: 76,710,552 (GRCm39) |
|
probably benign |
Het |
| Vmn2r99 |
A |
G |
17: 19,602,820 (GRCm39) |
Q525R |
probably benign |
Het |
| Vsig10 |
G |
A |
5: 117,481,989 (GRCm39) |
C393Y |
probably damaging |
Het |
| Ywhag |
A |
G |
5: 135,939,928 (GRCm39) |
I222T |
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 |
|
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'- CTTGTCTCTGAGGACTGTGC -3'
(R):5'- CCAAGTGAAAGTTTGCTGTTTG -3'
Sequencing Primer
(F):5'- TCTGGCACTCACTCTCGGAG -3'
(R):5'- GCTGTTTGGTTTGACAGAATATTTTC -3'
|
| Posted On |
2018-02-27 |
Incidental Mutation