Incidental Mutation 'IGL01714:Hipk2'
ID 104880
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Hipk2
Ensembl Gene ENSMUSG00000061436
Gene Name homeodomain interacting protein kinase 2
Synonyms B230339E18Rik, 1110014O20Rik, Stank
Accession Numbers
Essential gene? Probably essential (E-score: 0.958) question?
Stock # IGL01714
Quality Score
Status
Chromosome 6
Chromosomal Location 38671325-38853099 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 38796117 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Asparagine at position 51 (Y51N)
Ref Sequence ENSEMBL: ENSMUSP00000125150 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000160360] [ENSMUST00000160962] [ENSMUST00000161779] [ENSMUST00000162359]
AlphaFold Q9QZR5
Predicted Effect noncoding transcript
Transcript: ENSMUST00000114855
Predicted Effect noncoding transcript
Transcript: ENSMUST00000159894
Predicted Effect probably damaging
Transcript: ENSMUST00000160360
AA Change: Y51N

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000125500
Gene: ENSMUSG00000061436
AA Change: Y51N

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 probably damaging
Transcript: ENSMUST00000160962
AA Change: Y44N

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000125572
Gene: ENSMUSG00000061436
AA Change: Y44N

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 probably damaging
Transcript: ENSMUST00000161779
AA Change: Y51N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000124133
Gene: ENSMUSG00000061436
AA Change: Y51N

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: Y51N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000125150
Gene: ENSMUSG00000061436
AA Change: Y51N

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 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: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700030K09Rik T C 8: 73,209,413 (GRCm39) probably null Het
Acvrl1 T A 15: 101,035,251 (GRCm39) I259N probably damaging Het
Ahctf1 A G 1: 179,623,442 (GRCm39) S59P probably damaging Het
Bcas1 T C 2: 170,226,102 (GRCm39) probably benign Het
Ccdc33 T C 9: 57,937,153 (GRCm39) N682S possibly damaging Het
Celf1 T C 2: 90,839,552 (GRCm39) S326P possibly damaging Het
Cntn1 T A 15: 92,151,870 (GRCm39) C436* probably null Het
Cyp2d40 T G 15: 82,645,441 (GRCm39) D142A possibly damaging Het
Dennd2b A G 7: 109,169,269 (GRCm39) S9P probably damaging Het
Dnhd1 C T 7: 105,370,149 (GRCm39) L4525F probably damaging Het
Drosha A G 15: 12,878,870 (GRCm39) Y732C probably damaging Het
Edn1 A G 13: 42,458,490 (GRCm39) N101S probably benign Het
Faxc C T 4: 21,936,688 (GRCm39) P108S probably damaging Het
Glb1l2 C T 9: 26,679,714 (GRCm39) probably null Het
Gm4952 G T 19: 12,602,075 (GRCm39) R161L probably benign Het
Id4 T G 13: 48,415,266 (GRCm39) I98S probably damaging Het
Klf6 T C 13: 5,916,658 (GRCm39) S268P probably benign Het
Kmt2c G T 5: 25,518,398 (GRCm39) T2427N probably benign Het
Lrp3 T G 7: 34,905,496 (GRCm39) probably null Het
Lrrc66 A G 5: 73,787,320 (GRCm39) I10T probably benign Het
Mapkap1 T G 2: 34,408,855 (GRCm39) V281G probably damaging Het
Ncor1 T A 11: 62,225,410 (GRCm39) I1054F possibly damaging Het
Or8k25 T C 2: 86,244,144 (GRCm39) N84S probably benign Het
Ppp1r9b C A 11: 94,896,180 (GRCm39) T817N probably damaging Het
Prkd2 T A 7: 16,597,867 (GRCm39) I659N probably damaging Het
Radil T C 5: 142,529,152 (GRCm39) probably benign Het
S2bpcox16 A G 12: 81,557,664 (GRCm39) I47T probably damaging Het
Smarcd1 C T 15: 99,610,302 (GRCm39) T474I probably damaging Het
Srd5a1 C T 13: 69,759,181 (GRCm39) W62* probably null Het
St6galnac2 C T 11: 116,575,945 (GRCm39) D169N probably damaging Het
Ttn T A 2: 76,687,523 (GRCm39) probably benign Het
Vmn1r77 A T 7: 11,775,277 (GRCm39) I18F probably benign Het
Xrcc5 A T 1: 72,369,143 (GRCm39) K332N probably damaging Het
Other mutations in Hipk2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00582:Hipk2 APN 6 38,796,257 (GRCm39) splice site probably benign
IGL00814:Hipk2 APN 6 38,795,484 (GRCm39) missense probably damaging 1.00
IGL00907:Hipk2 APN 6 38,795,208 (GRCm39) missense probably damaging 1.00
IGL01350:Hipk2 APN 6 38,795,250 (GRCm39) missense probably damaging 1.00
IGL01893:Hipk2 APN 6 38,795,330 (GRCm39) missense probably benign 0.05
IGL02028:Hipk2 APN 6 38,795,691 (GRCm39) missense possibly damaging 0.67
IGL02133:Hipk2 APN 6 38,796,069 (GRCm39) missense probably benign
IGL02135:Hipk2 APN 6 38,795,934 (GRCm39) missense possibly damaging 0.90
IGL02543:Hipk2 APN 6 38,680,436 (GRCm39) missense possibly damaging 0.95
IGL02630:Hipk2 APN 6 38,795,456 (GRCm39) missense possibly damaging 0.48
IGL02896:Hipk2 APN 6 38,675,382 (GRCm39) missense probably damaging 1.00
IGL02900:Hipk2 APN 6 38,706,879 (GRCm39) missense probably damaging 0.96
IGL03345:Hipk2 APN 6 38,724,937 (GRCm39) splice site probably benign
R0070:Hipk2 UTSW 6 38,795,919 (GRCm39) nonsense probably null
R0070:Hipk2 UTSW 6 38,795,919 (GRCm39) nonsense probably null
R0092:Hipk2 UTSW 6 38,720,164 (GRCm39) missense probably damaging 0.97
R0184:Hipk2 UTSW 6 38,695,866 (GRCm39) missense possibly damaging 0.77
R0494:Hipk2 UTSW 6 38,706,924 (GRCm39) missense probably benign 0.03
R0617:Hipk2 UTSW 6 38,724,420 (GRCm39) missense possibly damaging 0.70
R0720:Hipk2 UTSW 6 38,675,491 (GRCm39) missense probably damaging 1.00
R1812:Hipk2 UTSW 6 38,675,098 (GRCm39) missense probably benign 0.14
R1864:Hipk2 UTSW 6 38,695,870 (GRCm39) critical splice acceptor site probably null
R1919:Hipk2 UTSW 6 38,795,919 (GRCm39) nonsense probably null
R1995:Hipk2 UTSW 6 38,692,909 (GRCm39) missense probably damaging 1.00
R2079:Hipk2 UTSW 6 38,795,720 (GRCm39) missense probably damaging 1.00
R2238:Hipk2 UTSW 6 38,706,850 (GRCm39) splice site probably benign
R2384:Hipk2 UTSW 6 38,795,306 (GRCm39) missense probably damaging 0.99
R3775:Hipk2 UTSW 6 38,720,029 (GRCm39) missense probably damaging 0.99
R3792:Hipk2 UTSW 6 38,675,491 (GRCm39) missense probably damaging 1.00
R3841:Hipk2 UTSW 6 38,795,861 (GRCm39) missense probably damaging 1.00
R3883:Hipk2 UTSW 6 38,676,200 (GRCm39) missense probably damaging 1.00
R4471:Hipk2 UTSW 6 38,713,857 (GRCm39) intron probably benign
R4724:Hipk2 UTSW 6 38,675,327 (GRCm39) missense probably benign 0.10
R4838:Hipk2 UTSW 6 38,795,339 (GRCm39) missense possibly damaging 0.94
R4843:Hipk2 UTSW 6 38,796,192 (GRCm39) missense possibly damaging 0.94
R5040:Hipk2 UTSW 6 38,707,816 (GRCm39) missense possibly damaging 0.82
R5044:Hipk2 UTSW 6 38,795,814 (GRCm39) missense probably benign 0.06
R5320:Hipk2 UTSW 6 38,795,212 (GRCm39) missense probably damaging 1.00
R5409:Hipk2 UTSW 6 38,706,977 (GRCm39) missense probably damaging 1.00
R5682:Hipk2 UTSW 6 38,714,408 (GRCm39) missense possibly damaging 0.50
R5695:Hipk2 UTSW 6 38,795,810 (GRCm39) missense possibly damaging 0.64
R5876:Hipk2 UTSW 6 38,707,802 (GRCm39) critical splice donor site probably null
R6309:Hipk2 UTSW 6 38,675,446 (GRCm39) missense probably damaging 1.00
R6612:Hipk2 UTSW 6 38,795,808 (GRCm39) missense probably benign 0.04
R6815:Hipk2 UTSW 6 38,795,777 (GRCm39) missense probably damaging 1.00
R7104:Hipk2 UTSW 6 38,795,579 (GRCm39) missense probably damaging 0.98
R7124:Hipk2 UTSW 6 38,795,413 (GRCm39) nonsense probably null
R7238:Hipk2 UTSW 6 38,692,992 (GRCm39) missense probably benign 0.45
R7712:Hipk2 UTSW 6 38,680,569 (GRCm39) missense probably benign 0.02
R7994:Hipk2 UTSW 6 38,795,403 (GRCm39) missense possibly damaging 0.94
R8190:Hipk2 UTSW 6 38,795,728 (GRCm39) missense possibly damaging 0.88
R8388:Hipk2 UTSW 6 38,722,630 (GRCm39) missense probably damaging 1.00
R8796:Hipk2 UTSW 6 38,675,158 (GRCm39) missense probably damaging 0.99
R9041:Hipk2 UTSW 6 38,724,909 (GRCm39) nonsense probably null
R9388:Hipk2 UTSW 6 38,707,956 (GRCm39) missense probably damaging 1.00
R9480:Hipk2 UTSW 6 38,680,377 (GRCm39) missense probably benign 0.37
R9485:Hipk2 UTSW 6 38,680,445 (GRCm39) missense possibly damaging 0.94
R9562:Hipk2 UTSW 6 38,724,390 (GRCm39) missense probably damaging 0.99
R9565:Hipk2 UTSW 6 38,724,390 (GRCm39) missense probably damaging 0.99
Posted On 2014-01-21