Incidental Mutation 'IGL02712:Hipk4'
ID 304597
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Hipk4
Ensembl Gene ENSMUSG00000040424
Gene Name homeodomain interacting protein kinase 4
Synonyms LOC233020
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02712
Quality Score
Status
Chromosome 7
Chromosomal Location 27222692-27230600 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 27228060 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 269 (Y269H)
Ref Sequence ENSEMBL: ENSMUSP00000103990 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000037134] [ENSMUST00000108353] [ENSMUST00000117095] [ENSMUST00000117611]
AlphaFold Q3V016
Predicted Effect probably damaging
Transcript: ENSMUST00000037134
AA Change: Y65H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000043175
Gene: ENSMUSG00000040424
AA Change: Y65H

DomainStartEndE-ValueType
SCOP:d1howa_ 1 142 8e-12 SMART
Blast:S_TKc 1 143 8e-99 BLAST
PDB:3ANR|D 1 155 1e-12 PDB
low complexity region 192 206 N/A INTRINSIC
low complexity region 389 399 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000108353
AA Change: Y269H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000103990
Gene: ENSMUSG00000040424
AA Change: Y269H

DomainStartEndE-ValueType
S_TKc 11 347 9.31e-74 SMART
low complexity region 396 410 N/A INTRINSIC
low complexity region 593 603 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000117095
SMART Domains Protein: ENSMUSP00000113820
Gene: ENSMUSG00000003363

DomainStartEndE-ValueType
low complexity region 25 36 N/A INTRINSIC
transmembrane domain 38 60 N/A INTRINSIC
PLDc 194 221 9.25e-10 SMART
Pfam:PLDc_3 224 401 1.6e-43 PFAM
PLDc 409 435 1.19e-3 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000117611
SMART Domains Protein: ENSMUSP00000112942
Gene: ENSMUSG00000003363

DomainStartEndE-ValueType
low complexity region 25 36 N/A INTRINSIC
transmembrane domain 38 60 N/A INTRINSIC
PLDc 194 221 9.25e-10 SMART
low complexity region 285 297 N/A INTRINSIC
PLDc 409 435 1.19e-3 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142981
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155287
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 member of the homeodomain interacting protein kinase (HIPK) family of proteins. While other members of this family are found throughout vertebrates, this member is present only in mammals. Compared to other members of this family, the encoded protein lacks a nuclear localization signal and a C-terminal autoinhibitory domain. The encoded protein exhibits kinase activity and may phosphorylate the tumor suppressor protein p53. [provided by RefSeq, Jul 2016]
Allele List at MGI
Other mutations in this stock
Total: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Angel1 A G 12: 86,769,613 (GRCm39) probably benign Het
Arhgef33 T A 17: 80,667,802 (GRCm39) V289D probably damaging Het
Cabp5 A G 7: 13,137,271 (GRCm39) M93V probably damaging Het
Ces1a A C 8: 93,762,668 (GRCm39) V201G probably damaging Het
Cisd1 A G 10: 71,172,181 (GRCm39) F34L probably benign Het
Cyp26a1 T C 19: 37,688,426 (GRCm39) L316P probably damaging Het
Ddx39a A G 8: 84,448,386 (GRCm39) I213V probably benign Het
Ddx59 A T 1: 136,367,519 (GRCm39) N542I probably benign Het
Dytn T C 1: 63,703,581 (GRCm39) T233A probably benign Het
Fbxo7 A G 10: 85,860,302 (GRCm39) T49A possibly damaging Het
Fmnl2 C A 2: 52,926,510 (GRCm39) probably benign Het
Golga2 G T 2: 32,194,225 (GRCm39) K610N probably damaging Het
Ifi209 T C 1: 173,470,267 (GRCm39) V285A possibly damaging Het
Ifna1 A G 4: 88,768,523 (GRCm39) D67G probably benign Het
Map3k13 T G 16: 21,724,005 (GRCm39) V329G probably damaging Het
Mrm3 T C 11: 76,134,683 (GRCm39) W29R possibly damaging Het
Nherf1 T C 11: 115,068,060 (GRCm39) V200A possibly damaging Het
Nos1ap T C 1: 170,156,820 (GRCm39) I213V possibly damaging Het
Nphp4 C T 4: 152,640,732 (GRCm39) T1033M probably damaging Het
Nr5a2 T C 1: 136,868,266 (GRCm39) probably null Het
Nrcam A G 12: 44,620,610 (GRCm39) Y885C probably damaging Het
Odr4 A G 1: 150,262,107 (GRCm39) probably null Het
Or1e17 T C 11: 73,831,756 (GRCm39) V228A probably benign Het
Or8b57 T C 9: 40,004,082 (GRCm39) H60R probably damaging Het
Ovgp1 T A 3: 105,893,829 (GRCm39) probably benign Het
Pdzd2 T C 15: 12,376,113 (GRCm39) S1341G probably benign Het
Pld2 T G 11: 70,447,905 (GRCm39) L856R probably benign Het
Plod1 A G 4: 148,003,344 (GRCm39) F494L possibly damaging Het
Pnkd T A 1: 74,389,027 (GRCm39) S233T possibly damaging Het
Rnf144b T C 13: 47,393,255 (GRCm39) I198T probably damaging Het
Rsc1a1 G T 4: 141,412,376 (GRCm39) Q179K probably benign Het
Slc5a10 C T 11: 61,598,632 (GRCm39) W249* probably null Het
Spata32 T G 11: 103,098,973 (GRCm39) probably benign Het
Stk4 T A 2: 163,938,817 (GRCm39) H228Q probably damaging Het
Szt2 T A 4: 118,242,030 (GRCm39) Q1592L probably benign Het
Tnc T A 4: 63,893,493 (GRCm39) I1598F probably damaging Het
Togaram2 A T 17: 72,011,749 (GRCm39) D476V probably benign Het
Ttll6 T G 11: 96,030,601 (GRCm39) probably benign Het
Vmn2r118 A G 17: 55,899,655 (GRCm39) S750P probably benign Het
Zswim5 C T 4: 116,842,892 (GRCm39) T879I probably damaging Het
Other mutations in Hipk4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01756:Hipk4 APN 7 27,227,968 (GRCm39) nonsense probably null
R2018:Hipk4 UTSW 7 27,228,429 (GRCm39) missense probably damaging 1.00
R3813:Hipk4 UTSW 7 27,223,372 (GRCm39) missense probably damaging 1.00
R4796:Hipk4 UTSW 7 27,227,995 (GRCm39) missense probably benign 0.00
R5121:Hipk4 UTSW 7 27,228,917 (GRCm39) missense probably benign 0.02
R5738:Hipk4 UTSW 7 27,227,841 (GRCm39) missense probably damaging 1.00
R5776:Hipk4 UTSW 7 27,228,405 (GRCm39) missense probably damaging 1.00
R6142:Hipk4 UTSW 7 27,228,590 (GRCm39) missense probably damaging 1.00
R6578:Hipk4 UTSW 7 27,227,812 (GRCm39) missense probably damaging 1.00
R7637:Hipk4 UTSW 7 27,222,973 (GRCm39) missense probably damaging 1.00
R8160:Hipk4 UTSW 7 27,223,186 (GRCm39) missense possibly damaging 0.77
R8343:Hipk4 UTSW 7 27,223,033 (GRCm39) missense probably damaging 0.98
R9324:Hipk4 UTSW 7 27,228,834 (GRCm39) missense probably damaging 0.96
R9465:Hipk4 UTSW 7 27,229,160 (GRCm39) missense probably benign 0.00
Posted On 2015-04-16