Incidental Mutation 'IGL02900:Hipk2'
ID363561
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Hipk2
Ensembl Gene ENSMUSG00000061436
Gene Namehomeodomain interacting protein kinase 2
Synonyms1110014O20Rik, Stank, B230339E18Rik
Accession Numbers

Ncbi RefSeq: NM_001136065.1, NM_010433.2; MGI: 1314872

Is this an essential gene? Probably essential (E-score: 0.952) question?
Stock #IGL02900
Quality Score
Status
Chromosome6
Chromosomal Location38694390-38876165 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 38729944 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Valine at position 670 (I670V)
Ref Sequence ENSEMBL: ENSMUSP00000125150 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000160360] [ENSMUST00000160962] [ENSMUST00000161779] [ENSMUST00000162359]
Predicted Effect probably benign
Transcript: ENSMUST00000160360
AA Change: I670V

PolyPhen 2 Score 0.310 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000125500
Gene: ENSMUSG00000061436
AA Change: I670V

DomainStartEndE-ValueType
low complexity region 94 104 N/A INTRINSIC
low complexity region 156 180 N/A INTRINSIC
S_TKc 199 527 3.05e-78 SMART
low complexity region 895 909 N/A INTRINSIC
low complexity region 963 992 N/A INTRINSIC
low complexity region 998 1018 N/A INTRINSIC
low complexity region 1057 1072 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000160962
AA Change: I663V

PolyPhen 2 Score 0.913 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000125572
Gene: ENSMUSG00000061436
AA Change: I663V

DomainStartEndE-ValueType
low complexity region 87 97 N/A INTRINSIC
low complexity region 149 173 N/A INTRINSIC
S_TKc 192 520 3.05e-78 SMART
low complexity region 888 902 N/A INTRINSIC
low complexity region 956 985 N/A INTRINSIC
low complexity region 991 1011 N/A INTRINSIC
low complexity region 1050 1065 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000161779
AA Change: I697V

PolyPhen 2 Score 0.626 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000124133
Gene: ENSMUSG00000061436
AA Change: I697V

DomainStartEndE-ValueType
low complexity region 94 104 N/A INTRINSIC
low complexity region 156 180 N/A INTRINSIC
S_TKc 199 527 3.05e-78 SMART
low complexity region 923 937 N/A INTRINSIC
low complexity region 991 1020 N/A INTRINSIC
low complexity region 1026 1046 N/A INTRINSIC
low complexity region 1085 1100 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000162359
AA Change: I670V

PolyPhen 2 Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000125150
Gene: ENSMUSG00000061436
AA Change: I670V

DomainStartEndE-ValueType
low complexity region 94 104 N/A INTRINSIC
low complexity region 156 180 N/A INTRINSIC
S_TKc 199 527 3.05e-78 SMART
low complexity region 896 910 N/A INTRINSIC
low complexity region 964 993 N/A INTRINSIC
low complexity region 999 1019 N/A INTRINSIC
low complexity region 1058 1073 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
MGI Phenotype Strain: 3624127; 3487301; 4429497
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a conserved serine/threonine kinase that is a member of the homeodomain-interacting protein kinase family. The encoded protein interacts with homeodomain transcription factors and many other transcription factors such as p53, and can function as both a corepressor and a coactivator depending on the transcription factor and its subcellular localization. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2011]
PHENOTYPE: Homozygous null mice display decreased apoptosis and increased neuron numbers in the trigeminal ganglion. [provided by MGI curators]
Allele List at MGI

All alleles(10) : Targeted(7) Gene trapped(3)

Other mutations in this stock
Total: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2300003K06Rik G T 11: 99,837,948 T23N possibly damaging Het
Angpt4 T A 2: 151,911,471 V47E probably damaging Het
Arhgef11 G A 3: 87,733,160 R1208Q probably benign Het
Calb1 T C 4: 15,895,695 probably benign Het
Capn11 G T 17: 45,630,614 probably null Het
Carmil2 T A 8: 105,695,519 I1140N probably damaging Het
Cnn3 A T 3: 121,451,494 T23S probably benign Het
Colgalt2 C T 1: 152,508,730 T607M probably damaging Het
Cyp46a1 T G 12: 108,343,091 V93G probably damaging Het
Dcaf6 T C 1: 165,399,775 Y261C probably damaging Het
Dnah10 A G 5: 124,801,822 Y2715C probably damaging Het
Dsg1a G T 18: 20,328,656 probably benign Het
Eml4 C T 17: 83,477,992 P862L probably benign Het
Gm13088 A T 4: 143,655,515 F204I possibly damaging Het
Gm5414 T C 15: 101,627,807 T128A probably damaging Het
Gp9 G T 6: 87,779,433 W143C probably damaging Het
Hoxa10 T C 6: 52,232,561 K77R possibly damaging Het
Kcna1 T G 6: 126,643,094 S88R probably damaging Het
Kif1b A T 4: 149,180,809 S1758T possibly damaging Het
Klk11 A G 7: 43,778,413 T182A probably damaging Het
Lrp1 G A 10: 127,576,647 probably benign Het
Magi1 A G 6: 93,686,873 S991P probably damaging Het
Mast4 T A 13: 102,735,676 T2203S probably benign Het
Mxra8 A G 4: 155,841,119 E95G possibly damaging Het
Mxra8 A G 4: 155,841,211 probably null Het
Nrn1 C A 13: 36,730,106 probably null Het
Olfr112 A G 17: 37,563,849 I154T possibly damaging Het
Olfr452 T A 6: 42,790,874 Y278* probably null Het
Olfr967 A T 9: 39,750,605 H73L probably benign Het
Olfr971 T A 9: 39,839,812 I126N probably damaging Het
Pbx4 A G 8: 69,866,566 E249G probably damaging Het
Pkd1l2 T C 8: 117,024,091 E1727G probably benign Het
Plec T G 15: 76,186,214 D932A probably damaging Het
Raph1 T C 1: 60,502,863 D364G probably damaging Het
Rps29 T A 12: 69,159,051 H3L probably damaging Het
Sema4c A T 1: 36,550,745 C509* probably null Het
Srgap2 A T 1: 131,411,796 probably benign Het
Stam2 A T 2: 52,708,197 D243E probably benign Het
Stxbp4 A G 11: 90,607,035 L146P probably benign Het
Teddm3 G T 16: 21,153,150 T223K probably benign Het
Tfap2d A T 1: 19,119,250 N285Y probably damaging Het
Tmprss3 T A 17: 31,184,579 D416V probably damaging Het
Vmn1r71 T A 7: 10,748,674 Y29F probably benign Het
Vmn2r84 T C 10: 130,387,992 probably benign Het
Washc2 G T 6: 116,227,474 D362Y probably damaging Het
Wbp2nl T C 15: 82,313,834 S191P probably benign Het
Zfp608 T C 18: 54,946,793 T307A probably damaging Het
Zfp970 T C 2: 177,474,817 probably benign Het
Other mutations in Hipk2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00582:Hipk2 APN 6 38819322 splice site probably benign
IGL00814:Hipk2 APN 6 38818549 missense probably damaging 1.00
IGL00907:Hipk2 APN 6 38818273 missense probably damaging 1.00
IGL01350:Hipk2 APN 6 38818315 missense probably damaging 1.00
IGL01714:Hipk2 APN 6 38819182 missense probably damaging 1.00
IGL01893:Hipk2 APN 6 38818395 missense probably benign 0.05
IGL02028:Hipk2 APN 6 38818756 missense possibly damaging 0.67
IGL02133:Hipk2 APN 6 38819134 missense probably benign
IGL02135:Hipk2 APN 6 38818999 missense possibly damaging 0.90
IGL02543:Hipk2 APN 6 38703501 missense possibly damaging 0.95
IGL02630:Hipk2 APN 6 38818521 missense possibly damaging 0.48
IGL02896:Hipk2 APN 6 38698447 missense probably damaging 1.00
IGL03345:Hipk2 APN 6 38748002 splice site probably benign
R0070:Hipk2 UTSW 6 38818984 nonsense probably null
R0070:Hipk2 UTSW 6 38818984 nonsense probably null
R0092:Hipk2 UTSW 6 38743229 missense probably damaging 0.97
R0184:Hipk2 UTSW 6 38718931 missense possibly damaging 0.77
R0494:Hipk2 UTSW 6 38729989 missense probably benign 0.03
R0617:Hipk2 UTSW 6 38747485 missense possibly damaging 0.70
R0720:Hipk2 UTSW 6 38698556 missense probably damaging 1.00
R1812:Hipk2 UTSW 6 38698163 missense probably benign 0.14
R1864:Hipk2 UTSW 6 38718935 critical splice acceptor site probably null
R1919:Hipk2 UTSW 6 38818984 nonsense probably null
R1995:Hipk2 UTSW 6 38715974 missense probably damaging 1.00
R2079:Hipk2 UTSW 6 38818785 missense probably damaging 1.00
R2238:Hipk2 UTSW 6 38729915 splice site probably benign
R2384:Hipk2 UTSW 6 38818371 missense probably damaging 0.99
R3775:Hipk2 UTSW 6 38743094 missense probably damaging 0.99
R3792:Hipk2 UTSW 6 38698556 missense probably damaging 1.00
R3841:Hipk2 UTSW 6 38818926 missense probably damaging 1.00
R3883:Hipk2 UTSW 6 38699265 missense probably damaging 1.00
R4471:Hipk2 UTSW 6 38736922 intron probably benign
R4724:Hipk2 UTSW 6 38698392 missense probably benign 0.10
R4838:Hipk2 UTSW 6 38818404 missense possibly damaging 0.94
R4843:Hipk2 UTSW 6 38819257 missense possibly damaging 0.94
R5040:Hipk2 UTSW 6 38730881 missense possibly damaging 0.82
R5044:Hipk2 UTSW 6 38818879 missense probably benign 0.06
R5320:Hipk2 UTSW 6 38818277 missense probably damaging 1.00
R5409:Hipk2 UTSW 6 38730042 missense probably damaging 1.00
R5682:Hipk2 UTSW 6 38737473 missense possibly damaging 0.50
R5695:Hipk2 UTSW 6 38818875 missense possibly damaging 0.64
R5876:Hipk2 UTSW 6 38730867 critical splice donor site probably null
R6309:Hipk2 UTSW 6 38698511 missense probably damaging 1.00
R6612:Hipk2 UTSW 6 38818873 missense probably benign 0.04
R6815:Hipk2 UTSW 6 38818842 missense probably damaging 1.00
R7104:Hipk2 UTSW 6 38818644 missense probably damaging 0.98
R7124:Hipk2 UTSW 6 38818478 nonsense probably null
R7238:Hipk2 UTSW 6 38716057 missense probably benign 0.45
R7712:Hipk2 UTSW 6 38703634 missense probably benign 0.02
Posted On2015-12-18