Incidental Mutation 'IGL02986:Hipk3'
ID 406727
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Hipk3
Ensembl Gene ENSMUSG00000027177
Gene Name homeodomain interacting protein kinase 3
Synonyms DYRK6, FIST3
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02986
Quality Score
Status
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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 question?
Coding Region Coverage
Validation Efficiency
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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Agrn A G 4: 156,263,311 (GRCm39) V264A possibly damaging Het
Akr1c6 G T 13: 4,486,414 (GRCm39) V74L probably benign Het
Atp10a T G 7: 58,478,469 (GRCm39) V1504G probably benign Het
Ccng1 A G 11: 40,641,690 (GRCm39) probably benign Het
Celsr3 A T 9: 108,718,454 (GRCm39) probably null Het
Coro1b T C 19: 4,199,470 (GRCm39) V43A possibly damaging Het
Dab1 A G 4: 104,336,418 (GRCm39) T5A probably benign Het
Dennd5a C T 7: 109,534,731 (GRCm39) A47T probably benign Het
Dgkb A G 12: 38,150,399 (GRCm39) T69A possibly damaging Het
Dhx37 G A 5: 125,496,379 (GRCm39) P721L probably damaging Het
Efr3b T C 12: 4,016,495 (GRCm39) N641D probably benign Het
Espnl A T 1: 91,272,572 (GRCm39) Q600L probably benign Het
Esyt1 A G 10: 128,352,626 (GRCm39) V693A probably damaging Het
Fscn2 A G 11: 120,258,176 (GRCm39) D366G possibly damaging Het
Gcsam C A 16: 45,440,366 (GRCm39) F136L probably benign Het
Gm10643 A T 8: 84,790,887 (GRCm39) probably benign Het
Habp2 A T 19: 56,299,624 (GRCm39) D174V probably benign Het
Hgfac T C 5: 35,201,207 (GRCm39) V210A probably benign Het
L3mbtl1 T C 2: 162,812,225 (GRCm39) W757R probably damaging Het
Lrrfip2 A G 9: 110,990,461 (GRCm39) probably null Het
Ly75 T C 2: 60,138,535 (GRCm39) D1444G probably damaging Het
Mars1 A G 10: 127,133,438 (GRCm39) V765A probably benign Het
Med1 A G 11: 98,047,086 (GRCm39) probably benign Het
Msln G A 17: 25,971,907 (GRCm39) probably benign Het
Nup188 T A 2: 30,197,645 (GRCm39) probably null Het
Or1p1c T G 11: 74,160,928 (GRCm39) F238V possibly damaging Het
Or7e173 A T 9: 19,939,007 (GRCm39) F76I probably benign Het
Otop2 T A 11: 115,220,393 (GRCm39) M411K probably benign Het
Picalm A G 7: 89,856,793 (GRCm39) I649M probably benign Het
Plekha8 T C 6: 54,606,851 (GRCm39) L382P probably damaging Het
Pspn A G 17: 57,306,853 (GRCm39) probably benign Het
Rnf215 A G 11: 4,089,793 (GRCm39) T269A probably damaging Het
Rps6kc1 A T 1: 190,566,258 (GRCm39) L329Q probably damaging Het
Srms T A 2: 180,854,290 (GRCm39) R92S possibly damaging Het
Ssxb10 C A X: 8,201,845 (GRCm39) S157* probably null Het
Tfap2c T C 2: 172,399,171 (GRCm39) S448P probably damaging Het
Thsd7b A G 1: 129,843,352 (GRCm39) N855D probably benign Het
Timeless A C 10: 128,085,629 (GRCm39) D887A possibly damaging Het
Tyms T C 5: 30,266,997 (GRCm39) Y169C probably damaging Het
Unc45b T A 11: 82,808,005 (GRCm39) C207S probably damaging Het
Utp20 A G 10: 88,611,147 (GRCm39) F1390S probably damaging Het
Vmn2r53 A T 7: 12,315,393 (GRCm39) probably benign Het
Zfp369 A T 13: 65,428,095 (GRCm39) D18V probably damaging Het
Other mutations in Hipk3
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
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
Posted On 2016-08-02