Incidental Mutation 'R6578:Hipk4'
ID 523863
Institutional Source Beutler Lab
Gene Symbol Hipk4
Ensembl Gene ENSMUSG00000040424
Gene Name homeodomain interacting protein kinase 4
Synonyms LOC233020
MMRRC Submission 044702-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6578 (G1)
Quality Score 211.009
Status Validated
Chromosome 7
Chromosomal Location 27222692-27230600 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 27227812 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 186 (I186T)
Ref Sequence ENSEMBL: ENSMUSP00000103990 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000037134] [ENSMUST00000108353] [ENSMUST00000117095] [ENSMUST00000117611]
AlphaFold Q3V016
Predicted Effect probably benign
Transcript: ENSMUST00000037134
SMART Domains Protein: ENSMUSP00000043175
Gene: ENSMUSG00000040424

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: I186T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000103990
Gene: ENSMUSG00000040424
AA Change: I186T

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: ENSMUST00000155287
Meta Mutation Damage Score 0.8681 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.4%
  • 10x: 96.8%
  • 20x: 89.4%
Validation Efficiency 97% (37/38)
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: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700034J05Rik G A 6: 146,854,812 (GRCm39) R77* probably null Het
Aldh9a1 A G 1: 167,183,328 (GRCm39) Y182C probably damaging Het
Alpk3 T A 7: 80,728,432 (GRCm39) S521T probably benign Het
Ankzf1 A G 1: 75,174,401 (GRCm39) R464G possibly damaging Het
Baz2b T C 2: 59,799,623 (GRCm39) E232G possibly damaging Het
Bbs2 T C 8: 94,803,669 (GRCm39) S524G probably null Het
Casp1 A G 9: 5,304,280 (GRCm39) K318R probably benign Het
Clock T A 5: 76,364,556 (GRCm39) Q853L unknown Het
Clstn3 A G 6: 124,427,663 (GRCm39) probably null Het
Ebpl A C 14: 61,597,769 (GRCm39) V24G probably benign Het
Erbb2 T C 11: 98,319,014 (GRCm39) C568R probably damaging Het
Gcm2 A G 13: 41,259,154 (GRCm39) I105T probably damaging Het
Gm7145 C T 1: 117,913,525 (GRCm39) P136S probably damaging Het
Helb G T 10: 119,947,086 (GRCm39) R76S probably damaging Het
Igdcc3 A G 9: 65,089,301 (GRCm39) D499G probably damaging Het
Krt26 T A 11: 99,225,628 (GRCm39) Q284H probably damaging Het
Lama4 T C 10: 38,893,361 (GRCm39) I156T probably benign Het
Mical2 T A 7: 111,910,652 (GRCm39) F274Y probably damaging Het
Mug1 A T 6: 121,864,411 (GRCm39) Q1436L probably benign Het
Nin A G 12: 70,107,968 (GRCm39) V208A probably damaging Het
Or4p20 T C 2: 88,253,488 (GRCm39) S294G probably benign Het
Pappa T A 4: 65,074,374 (GRCm39) N309K possibly damaging Het
Pdcd11 T C 19: 47,099,520 (GRCm39) V873A probably benign Het
Phf14 G A 6: 11,991,996 (GRCm39) C724Y probably damaging Het
Pik3r2 T G 8: 71,225,283 (GRCm39) I127L probably benign Het
Polr1a T A 6: 71,953,025 (GRCm39) M1531K possibly damaging Het
Pwwp2b T C 7: 138,836,028 (GRCm39) C490R probably damaging Het
Rax T C 18: 66,071,738 (GRCm39) T50A probably benign Het
Rbm28 A T 6: 29,137,639 (GRCm39) I438N probably damaging Het
Sema4c C T 1: 36,589,834 (GRCm39) V507I probably benign Het
Skint8 C T 4: 111,794,159 (GRCm39) T183I probably benign Het
Spata16 C T 3: 26,721,697 (GRCm39) Q73* probably null Het
Sync T C 4: 129,188,060 (GRCm39) L364P probably damaging Het
Syne1 T A 10: 5,355,454 (GRCm39) K376* probably null Het
Tanc1 C T 2: 59,626,298 (GRCm39) R552C probably damaging Het
Tdrd6 T C 17: 43,939,852 (GRCm39) I399V possibly damaging Het
Vps13b T C 15: 35,446,247 (GRCm39) C455R probably damaging Het
Other mutations in Hipk4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01756:Hipk4 APN 7 27,227,968 (GRCm39) nonsense probably null
IGL02712:Hipk4 APN 7 27,228,060 (GRCm39) missense probably damaging 1.00
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
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
Predicted Primers PCR Primer
(F):5'- CAGAGGCAGGGTCATTCATAAG -3'
(R):5'- CGCTTGAAGAAGTGGTGAGC -3'

Sequencing Primer
(F):5'- CTAGGCAGACACAGGAGATACAC -3'
(R):5'- CTTGAAGAAGTGGTGAGCCTTGC -3'
Posted On 2018-06-22