Incidental Mutation 'R9465:Hipk4'
ID 715122
Institutional Source Beutler Lab
Gene Symbol Hipk4
Ensembl Gene ENSMUSG00000040424
Gene Name homeodomain interacting protein kinase 4
Synonyms LOC233020
MMRRC Submission
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R9465 (G1)
Quality Score 225.009
Status Not validated
Chromosome 7
Chromosomal Location 27222692-27230600 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 27229160 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Threonine at position 537 (S537T)
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
AA Change: S333T

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000043175
Gene: ENSMUSG00000040424
AA Change: S333T

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 benign
Transcript: ENSMUST00000108353
AA Change: S537T

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000103990
Gene: ENSMUSG00000040424
AA Change: S537T

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.2%
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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933427I04Rik A C 4: 123,754,317 (GRCm39) H77P possibly damaging Het
Adcy7 G T 8: 89,046,778 (GRCm39) R587L probably benign Het
Arih2 C G 9: 108,488,938 (GRCm39) R260P probably damaging Het
Atg4a-ps C T 3: 103,553,101 (GRCm39) R80H probably damaging Het
Btd G A 14: 31,389,643 (GRCm39) D455N probably benign Het
Cadps A G 14: 12,489,002 (GRCm38) S852P possibly damaging Het
Creb3l1 C T 2: 91,822,231 (GRCm39) probably null Het
Cyp2j5 T C 4: 96,522,551 (GRCm39) D341G probably damaging Het
Dennd5b A G 6: 148,908,260 (GRCm39) V1011A probably damaging Het
Dlgap2 G A 8: 14,828,226 (GRCm39) E545K probably damaging Het
Dnah8 CGTGTCTTCAATATTTTGTTCCCTTTCCCGTAGGTGCCGTCCTTTGACTTTCCTGTGTCTTCAATATTTTGTTCCCTTTCCCGTAGGTGCCGTCCTTTGACTTTCCTGTGTCTTCAATATTTTGTTCCCTTTCCCGTAGGTGCCGTCCTT CGTGTCTTCAATATTTTGTTCCCTTTCCCGTAGGTGCCGTCCTTTGACTTTCCTGTGTCTTCAATATTTTGTTCCCTTTCCCGTAGGTGCCGTCCTT 17: 30,979,841 (GRCm39) probably null Het
Gigyf2 A G 1: 87,334,775 (GRCm39) D262G unknown Het
Gstm3 T C 3: 107,873,431 (GRCm39) N180S possibly damaging Het
Helz2 G T 2: 180,874,710 (GRCm39) T1928K probably benign Het
Il18rap C T 1: 40,582,177 (GRCm39) T366M probably benign Het
Il24 T C 1: 130,813,462 (GRCm39) Q45R probably benign Het
Kcnh1 G A 1: 191,924,233 (GRCm39) G149E probably damaging Het
Krtap4-2 A G 11: 99,525,391 (GRCm39) S154P unknown Het
Marveld3 T A 8: 110,688,525 (GRCm39) H72L possibly damaging Het
Med1 T C 11: 98,049,144 (GRCm39) T551A probably benign Het
Mtor T A 4: 148,624,839 (GRCm39) I2150N possibly damaging Het
Ninl A G 2: 150,782,726 (GRCm39) S170P possibly damaging Het
Or1j14 T C 2: 36,417,898 (GRCm39) V158A probably benign Het
Or6aa1 T C 7: 86,043,864 (GRCm39) I281V probably benign Het
Otog T C 7: 45,955,299 (GRCm39) V563A possibly damaging Het
Perm1 TGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCT TGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCT 4: 156,302,525 (GRCm39) probably benign Het
Phkb G A 8: 86,623,059 (GRCm39) V128I probably damaging Het
Ppp2r3d A G 9: 124,442,222 (GRCm38) L50P Het
Prl2c5 C T 13: 13,360,531 (GRCm39) S66L probably benign Het
Ptbp1 T C 10: 79,695,615 (GRCm39) S239P possibly damaging Het
Repin1 A G 6: 48,571,877 (GRCm39) K41E probably benign Het
Scrn1 A T 6: 54,502,649 (GRCm39) I130N probably damaging Het
Spata31 T A 13: 65,068,527 (GRCm39) L225Q probably damaging Het
Spred1 G A 2: 116,983,648 (GRCm39) probably null Het
Taar7e A G 10: 23,914,310 (GRCm39) R267G possibly damaging Het
Tgm5 T A 2: 120,905,633 (GRCm39) Y174F probably damaging Het
Tmprss11f T C 5: 86,685,876 (GRCm39) I164V probably damaging Het
Tomm22 T C 15: 79,555,468 (GRCm39) L71P probably damaging Het
Ttn C A 2: 76,577,531 (GRCm39) G24454V probably damaging Het
Wdr64 A G 1: 175,618,823 (GRCm39) S739G possibly damaging Het
Zswim2 C T 2: 83,746,275 (GRCm39) V388I probably benign 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
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
Predicted Primers PCR Primer
(F):5'- TCAAAGTGGCCAGTACCAGC -3'
(R):5'- TTTACTGAATCTTGGGCCCG -3'

Sequencing Primer
(F):5'- TGACTCAGGCCCAGAGC -3'
(R):5'- CCCGTGTTGAGATGACAGATGC -3'
Posted On 2022-06-15