Incidental Mutation 'IGL02525:Hipk3'
ID297021
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Hipk3
Ensembl Gene ENSMUSG00000027177
Gene Namehomeodomain interacting protein kinase 3
SynonymsDYRK6, FIST3
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02525
Quality Score
Status
Chromosome2
Chromosomal Location104426481-104494446 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 104471412 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glycine at position 145 (D145G)
Ref Sequence ENSEMBL: ENSMUSP00000106753 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028600] [ENSMUST00000111124] [ENSMUST00000111125]
Predicted Effect probably damaging
Transcript: ENSMUST00000028600
AA Change: D145G

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000028600
Gene: ENSMUSG00000027177
AA Change: D145G

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: D145G

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000106753
Gene: ENSMUSG00000027177
AA Change: D145G

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: ENSMUST00000111125
AA Change: D145G

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000106754
Gene: ENSMUSG00000027177
AA Change: D145G

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
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: 69 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam18 C T 8: 24,611,044 V701I probably benign Het
Adam18 A G 8: 24,641,767 probably benign Het
Adamts20 G T 15: 94,283,078 probably null Het
Adgrf5 G T 17: 43,449,963 V850F probably damaging Het
Agap2 T A 10: 127,083,201 probably null Het
Ap4b1 G A 3: 103,812,848 R62K probably damaging Het
Atp2a3 C A 11: 72,975,339 H262N probably benign Het
Ccdc12 T A 9: 110,711,101 D120E probably damaging Het
Ccdc22 A G X: 7,595,010 S529P probably damaging Het
Col1a2 A G 6: 4,531,355 probably benign Het
Ddx59 A T 1: 136,417,005 Q138L probably benign Het
Dlc1 A T 8: 36,579,646 F1091L probably damaging Het
Dnah1 C T 14: 31,305,833 V682M probably benign Het
Dock9 C T 14: 121,640,126 D404N probably damaging Het
Eif2b4 A G 5: 31,189,618 V402A probably damaging Het
Erlin1 T C 19: 44,039,195 H268R probably benign Het
Ermard T C 17: 15,059,339 probably benign Het
Fam43a A G 16: 30,600,778 K60R probably benign Het
Frmd4b T A 6: 97,412,533 D78V probably damaging Het
Gabrq A G X: 72,836,824 T308A possibly damaging Het
Gipr A G 7: 19,159,765 C328R possibly damaging Het
Gm17078 T C 14: 51,611,223 N19S possibly damaging Het
Gm17541 T C 12: 4,689,907 probably benign Het
Gm21759 T C 5: 8,179,967 probably benign Het
Gm7964 A G 7: 83,756,042 noncoding transcript Het
Gspt1 A G 16: 11,230,990 V318A probably damaging Het
Gtf2ird2 A G 5: 134,216,477 S526G probably benign Het
Hey2 A G 10: 30,842,647 M1T probably null Het
Ick A G 9: 78,160,393 K390E probably benign Het
Itgae A G 11: 73,130,951 D886G probably damaging Het
Ktn1 T A 14: 47,724,743 probably null Het
Med12l A G 3: 59,068,368 K239R probably benign Het
Milr1 A T 11: 106,765,275 M124L probably benign Het
Mon1b G T 8: 113,638,823 R261L possibly damaging Het
Mterf1a G A 5: 3,891,583 S95F probably benign Het
Myef2 C A 2: 125,114,058 probably benign Het
Nfrkb T A 9: 31,414,516 I1085N possibly damaging Het
Olfr275 A T 4: 52,825,616 Y73F probably damaging Het
Olfr924 T A 9: 38,848,240 M42K possibly damaging Het
Prodh G A 16: 18,072,468 Q430* probably null Het
Pstk G T 7: 131,371,193 R7L probably benign Het
Ptgr1 C A 4: 58,978,067 E108D probably benign Het
Ptpn9 T A 9: 57,036,725 Y294* probably null Het
Rnls C T 19: 33,138,214 V153M possibly damaging Het
Ros1 T C 10: 52,116,042 T1362A possibly damaging Het
Samt3 G A X: 86,046,921 A140T possibly damaging Het
Sbpl T A 17: 23,954,863 M16L unknown Het
Sephs1 G A 2: 4,906,596 C327Y probably damaging Het
Slc13a1 A T 6: 24,137,136 I93N probably damaging Het
Slc34a1 T C 13: 55,403,238 probably benign Het
Slc7a9 T C 7: 35,453,435 S93P probably damaging Het
Slx4 A G 16: 3,980,597 S1444P probably damaging Het
Stk32b C T 5: 37,531,633 V116M probably damaging Het
Supt5 A G 7: 28,318,947 probably benign Het
Syne2 T A 12: 76,101,003 S6439T probably damaging Het
Taar7d A G 10: 24,028,096 D292G possibly damaging Het
Tal2 A T 4: 53,785,971 I51F probably damaging Het
Thegl T A 5: 77,016,553 D134E probably benign Het
Tk2 A T 8: 104,243,400 N77K probably benign Het
Tmprss3 T A 17: 31,194,891 probably benign Het
Tnfrsf10b T C 14: 69,782,376 M319T probably damaging Het
Trim24 A G 6: 37,945,718 R417G probably damaging Het
Ttn C A 2: 76,764,314 G18717* probably null Het
Vmn2r102 A G 17: 19,681,185 T525A probably benign Het
Wdr38 A T 2: 38,998,412 N7I probably damaging Het
Wnt3 C T 11: 103,812,470 R260W probably damaging Het
Xdh T A 17: 73,924,995 Q240L possibly damaging Het
Zbtb5 T C 4: 44,994,731 T218A probably benign Het
Znfx1 C T 2: 167,037,537 E776K probably benign Het
Other mutations in Hipk3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00717:Hipk3 APN 2 104430231 missense possibly damaging 0.52
IGL00937:Hipk3 APN 2 104433172 missense possibly damaging 0.82
IGL01719:Hipk3 APN 2 104437089 missense possibly damaging 0.78
IGL01802:Hipk3 APN 2 104471853 splice site probably benign
IGL01932:Hipk3 APN 2 104470981 missense probably damaging 1.00
IGL02089:Hipk3 APN 2 104431379 missense probably damaging 1.00
IGL02522:Hipk3 APN 2 104471331 missense probably damaging 1.00
IGL02959:Hipk3 APN 2 104471259 missense probably damaging 1.00
IGL02986:Hipk3 APN 2 104433741 missense probably damaging 1.00
R0136:Hipk3 UTSW 2 104439293 missense probably benign 0.02
R0277:Hipk3 UTSW 2 104441248 missense probably damaging 1.00
R0308:Hipk3 UTSW 2 104433207 missense probably damaging 0.99
R0367:Hipk3 UTSW 2 104431249 nonsense probably null
R0597:Hipk3 UTSW 2 104433637 missense possibly damaging 0.94
R1079:Hipk3 UTSW 2 104471698 missense probably benign 0.00
R1171:Hipk3 UTSW 2 104471676 missense probably benign 0.02
R1244:Hipk3 UTSW 2 104433256 missense probably damaging 1.00
R1509:Hipk3 UTSW 2 104441262 missense probably benign 0.01
R1616:Hipk3 UTSW 2 104433745 nonsense probably null
R1893:Hipk3 UTSW 2 104433256 missense probably damaging 1.00
R1938:Hipk3 UTSW 2 104430188 missense possibly damaging 0.89
R1969:Hipk3 UTSW 2 104433841 missense probably damaging 1.00
R1975:Hipk3 UTSW 2 104471173 missense probably benign 0.00
R1985:Hipk3 UTSW 2 104434435 missense probably benign 0.16
R2105:Hipk3 UTSW 2 104439392 missense probably damaging 0.97
R2422:Hipk3 UTSW 2 104471485 missense probably benign 0.01
R3028:Hipk3 UTSW 2 104433790 missense probably benign
R3747:Hipk3 UTSW 2 104441283 nonsense probably null
R3923:Hipk3 UTSW 2 104470762 missense probably damaging 1.00
R4320:Hipk3 UTSW 2 104446571 missense probably damaging 1.00
R4321:Hipk3 UTSW 2 104446571 missense probably damaging 1.00
R4322:Hipk3 UTSW 2 104446571 missense probably damaging 1.00
R4323:Hipk3 UTSW 2 104446571 missense probably damaging 1.00
R4324:Hipk3 UTSW 2 104446571 missense probably damaging 1.00
R4595:Hipk3 UTSW 2 104441277 missense probably benign 0.01
R4604:Hipk3 UTSW 2 104439329 missense probably damaging 1.00
R4657:Hipk3 UTSW 2 104433759 missense probably benign 0.00
R5193:Hipk3 UTSW 2 104430000 missense possibly damaging 0.94
R5769:Hipk3 UTSW 2 104434953 missense possibly damaging 0.69
R5843:Hipk3 UTSW 2 104440224 missense possibly damaging 0.65
R5906:Hipk3 UTSW 2 104471808 missense probably damaging 1.00
R5976:Hipk3 UTSW 2 104471184 missense probably damaging 1.00
R5991:Hipk3 UTSW 2 104437983 missense probably damaging 1.00
R6214:Hipk3 UTSW 2 104433741 missense probably damaging 1.00
R6215:Hipk3 UTSW 2 104433741 missense probably damaging 1.00
R6285:Hipk3 UTSW 2 104471425 missense probably damaging 1.00
R6523:Hipk3 UTSW 2 104439408 missense possibly damaging 0.50
R6713:Hipk3 UTSW 2 104446571 missense probably damaging 1.00
R7381:Hipk3 UTSW 2 104439351 missense probably damaging 0.99
R7517:Hipk3 UTSW 2 104434714 missense probably benign 0.00
X0021:Hipk3 UTSW 2 104441366 critical splice acceptor site probably null
Z1088:Hipk3 UTSW 2 104434629 missense probably damaging 1.00
Posted On2015-04-16