Incidental Mutation 'R0785:Hipk1'
ID 76808
Institutional Source Beutler Lab
Gene Symbol Hipk1
Ensembl Gene ENSMUSG00000008730
Gene Name homeodomain interacting protein kinase 1
Synonyms 1110062K04Rik, Myak
MMRRC Submission 038965-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0785 (G1)
Quality Score 201
Status Validated
Chromosome 3
Chromosomal Location 103647131-103698879 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) G to T at 103661641 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Gene Model predicted gene model for transcript(s): [ENSMUST00000029438] [ENSMUST00000106845] [ENSMUST00000118317] [ENSMUST00000137078]
AlphaFold O88904
Predicted Effect probably null
Transcript: ENSMUST00000029438
SMART Domains Protein: ENSMUSP00000029438
Gene: ENSMUSG00000008730

DomainStartEndE-ValueType
low complexity region 3 21 N/A INTRINSIC
low complexity region 87 99 N/A INTRINSIC
low complexity region 151 170 N/A INTRINSIC
S_TKc 190 518 3.39e-76 SMART
low complexity region 586 603 N/A INTRINSIC
low complexity region 679 695 N/A INTRINSIC
low complexity region 941 959 N/A INTRINSIC
low complexity region 1047 1063 N/A INTRINSIC
low complexity region 1095 1111 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000106845
SMART Domains Protein: ENSMUSP00000102458
Gene: ENSMUSG00000008730

DomainStartEndE-ValueType
low complexity region 3 21 N/A INTRINSIC
low complexity region 87 99 N/A INTRINSIC
low complexity region 151 170 N/A INTRINSIC
S_TKc 190 518 3.39e-76 SMART
low complexity region 586 603 N/A INTRINSIC
low complexity region 679 695 N/A INTRINSIC
low complexity region 896 914 N/A INTRINSIC
low complexity region 1002 1018 N/A INTRINSIC
low complexity region 1050 1066 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000118317
SMART Domains Protein: ENSMUSP00000113998
Gene: ENSMUSG00000008730

DomainStartEndE-ValueType
low complexity region 3 21 N/A INTRINSIC
low complexity region 87 99 N/A INTRINSIC
low complexity region 151 170 N/A INTRINSIC
S_TKc 190 518 3.39e-76 SMART
low complexity region 586 603 N/A INTRINSIC
low complexity region 679 695 N/A INTRINSIC
low complexity region 941 959 N/A INTRINSIC
low complexity region 1047 1063 N/A INTRINSIC
low complexity region 1095 1111 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000121324
SMART Domains Protein: ENSMUSP00000114065
Gene: ENSMUSG00000008730

DomainStartEndE-ValueType
low complexity region 3 21 N/A INTRINSIC
low complexity region 87 99 N/A INTRINSIC
low complexity region 151 170 N/A INTRINSIC
S_TKc 190 518 3.39e-76 SMART
low complexity region 551 569 N/A INTRINSIC
low complexity region 645 661 N/A INTRINSIC
low complexity region 907 925 N/A INTRINSIC
low complexity region 1013 1029 N/A INTRINSIC
low complexity region 1061 1077 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000126351
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135634
Predicted Effect probably benign
Transcript: ENSMUST00000137078
SMART Domains Protein: ENSMUSP00000120396
Gene: ENSMUSG00000008730

DomainStartEndE-ValueType
low complexity region 3 21 N/A INTRINSIC
low complexity region 87 99 N/A INTRINSIC
low complexity region 151 170 N/A INTRINSIC
S_TKc 190 518 3.39e-76 SMART
low complexity region 586 603 N/A INTRINSIC
low complexity region 672 695 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000200071
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.2%
  • 10x: 95.1%
  • 20x: 87.1%
Validation Efficiency 100% (36/36)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the Ser/Thr family of protein kinases and HIPK subfamily. It phosphorylates homeodomain transcription factors and may also function as a co-repressor for homeodomain transcription factors. Alternative splicing results in four transcript variants encoding four distinct isoforms. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mice are viable and fertile, do not develop spontaneous tumors, and are resistant to DMBA-induced skin tumor formation. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca14 G A 7: 119,893,380 (GRCm39) G1277R probably damaging Het
Adam10 A G 9: 70,675,170 (GRCm39) E593G possibly damaging Het
Adh6a T C 3: 138,034,829 (GRCm39) probably benign Het
Akap6 T A 12: 52,933,405 (GRCm39) I299N probably benign Het
Bltp1 T C 3: 37,013,483 (GRCm39) probably benign Het
Bod1l A T 5: 41,977,359 (GRCm39) N1318K probably benign Het
Ccdc121rt2 A G 5: 112,598,434 (GRCm39) D327G probably benign Het
Eif2b2 C A 12: 85,268,335 (GRCm39) T170K probably damaging Het
Ermard T A 17: 15,242,239 (GRCm39) H138Q probably damaging Het
Ern2 A T 7: 121,770,884 (GRCm39) probably null Het
Fkbp11 T C 15: 98,624,430 (GRCm39) K108R probably damaging Het
Golgb1 A G 16: 36,719,152 (GRCm39) K353E possibly damaging Het
Itga4 A G 2: 79,119,649 (GRCm39) D485G possibly damaging Het
Krt1c C A 15: 101,726,356 (GRCm39) G61C unknown Het
Med12l T A 3: 59,168,253 (GRCm39) L1561Q probably damaging Het
Mtmr14 T C 6: 113,254,908 (GRCm39) probably null Het
Myorg A G 4: 41,497,539 (GRCm39) V697A probably benign Het
Naip1 A G 13: 100,559,584 (GRCm39) M1140T probably benign Het
Naip1 C T 13: 100,559,593 (GRCm39) R1137Q probably benign Het
Nav2 T A 7: 49,070,081 (GRCm39) H251Q probably benign Het
Nphp4 A G 4: 152,646,566 (GRCm39) D1366G possibly damaging Het
Or2b7 A G 13: 21,739,958 (GRCm39) V78A probably benign Het
Or6c75 A G 10: 129,336,750 (GRCm39) probably null Het
Pde6c A C 19: 38,121,628 (GRCm39) M79L probably benign Het
Pld5 C T 1: 175,803,018 (GRCm39) probably benign Het
Polr1g G C 7: 19,091,210 (GRCm39) S299C probably benign Het
Rps6kc1 A G 1: 190,541,142 (GRCm39) V387A probably damaging Het
Tas2r136 T C 6: 132,754,890 (GRCm39) D79G probably benign Het
Tmem243 A T 5: 9,168,488 (GRCm39) K90I probably damaging Het
Topbp1 A G 9: 103,192,289 (GRCm39) H260R probably damaging Het
Trappc1 A G 11: 69,215,636 (GRCm39) probably benign Het
Vmn2r125 C A 4: 156,703,396 (GRCm39) A258D probably benign Het
Zfp300 T C X: 20,949,164 (GRCm39) Y200C possibly damaging Het
Other mutations in Hipk1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00792:Hipk1 APN 3 103,685,476 (GRCm39) missense possibly damaging 0.49
IGL01024:Hipk1 APN 3 103,667,952 (GRCm39) missense probably benign 0.31
IGL01069:Hipk1 APN 3 103,685,015 (GRCm39) missense possibly damaging 0.95
IGL01798:Hipk1 APN 3 103,668,875 (GRCm39) missense probably damaging 0.99
IGL01937:Hipk1 APN 3 103,651,320 (GRCm39) missense possibly damaging 0.71
IGL01945:Hipk1 APN 3 103,651,320 (GRCm39) missense possibly damaging 0.71
IGL02184:Hipk1 APN 3 103,666,066 (GRCm39) missense possibly damaging 0.96
IGL02430:Hipk1 APN 3 103,667,971 (GRCm39) missense probably damaging 1.00
IGL02603:Hipk1 APN 3 103,657,588 (GRCm39) missense probably damaging 0.97
IGL02632:Hipk1 APN 3 103,667,861 (GRCm39) missense probably benign 0.14
IGL02686:Hipk1 APN 3 103,685,333 (GRCm39) missense possibly damaging 0.82
IGL03293:Hipk1 APN 3 103,684,575 (GRCm39) missense possibly damaging 0.83
effluvient UTSW 3 103,661,641 (GRCm39) splice site probably null
R0012:Hipk1 UTSW 3 103,670,996 (GRCm39) missense probably damaging 0.98
R0012:Hipk1 UTSW 3 103,670,996 (GRCm39) missense probably damaging 0.98
R0512:Hipk1 UTSW 3 103,667,890 (GRCm39) missense possibly damaging 0.95
R0741:Hipk1 UTSW 3 103,654,128 (GRCm39) missense probably benign 0.17
R0786:Hipk1 UTSW 3 103,651,620 (GRCm39) missense probably benign
R0833:Hipk1 UTSW 3 103,661,612 (GRCm39) missense probably damaging 0.98
R0836:Hipk1 UTSW 3 103,661,612 (GRCm39) missense probably damaging 0.98
R1165:Hipk1 UTSW 3 103,668,840 (GRCm39) missense possibly damaging 0.62
R1322:Hipk1 UTSW 3 103,651,297 (GRCm39) missense probably damaging 1.00
R1384:Hipk1 UTSW 3 103,666,090 (GRCm39) splice site probably benign
R1521:Hipk1 UTSW 3 103,685,098 (GRCm39) missense probably benign 0.16
R1543:Hipk1 UTSW 3 103,685,480 (GRCm39) missense probably benign 0.00
R2085:Hipk1 UTSW 3 103,657,670 (GRCm39) missense probably benign 0.00
R2158:Hipk1 UTSW 3 103,667,854 (GRCm39) missense probably damaging 1.00
R2291:Hipk1 UTSW 3 103,668,926 (GRCm39) missense probably damaging 1.00
R3522:Hipk1 UTSW 3 103,651,430 (GRCm39) missense probably damaging 0.96
R4516:Hipk1 UTSW 3 103,657,688 (GRCm39) missense probably damaging 0.98
R4518:Hipk1 UTSW 3 103,657,688 (GRCm39) missense probably damaging 0.98
R4884:Hipk1 UTSW 3 103,651,338 (GRCm39) missense possibly damaging 0.47
R5023:Hipk1 UTSW 3 103,684,823 (GRCm39) missense probably damaging 1.00
R6045:Hipk1 UTSW 3 103,654,218 (GRCm39) missense probably benign 0.45
R6641:Hipk1 UTSW 3 103,660,721 (GRCm39) missense probably damaging 0.99
R6904:Hipk1 UTSW 3 103,684,828 (GRCm39) missense possibly damaging 0.90
R6925:Hipk1 UTSW 3 103,685,561 (GRCm39) missense unknown
R7169:Hipk1 UTSW 3 103,651,533 (GRCm39) missense probably benign
R7212:Hipk1 UTSW 3 103,684,926 (GRCm39) nonsense probably null
R7313:Hipk1 UTSW 3 103,685,574 (GRCm39) missense unknown
R7678:Hipk1 UTSW 3 103,667,866 (GRCm39) missense probably damaging 0.98
R8133:Hipk1 UTSW 3 103,660,710 (GRCm39) missense possibly damaging 0.83
R8154:Hipk1 UTSW 3 103,656,652 (GRCm39) missense probably damaging 1.00
R8166:Hipk1 UTSW 3 103,685,489 (GRCm39) missense possibly damaging 0.95
R8941:Hipk1 UTSW 3 103,660,743 (GRCm39) missense probably damaging 0.99
R8989:Hipk1 UTSW 3 103,668,960 (GRCm39) missense possibly damaging 0.80
R9236:Hipk1 UTSW 3 103,671,789 (GRCm39) missense probably damaging 1.00
R9302:Hipk1 UTSW 3 103,685,099 (GRCm39) missense probably benign 0.01
R9383:Hipk1 UTSW 3 103,684,883 (GRCm39) missense probably damaging 0.99
R9401:Hipk1 UTSW 3 103,685,295 (GRCm39) missense probably benign
R9729:Hipk1 UTSW 3 103,668,890 (GRCm39) missense probably damaging 1.00
R9798:Hipk1 UTSW 3 103,651,431 (GRCm39) missense possibly damaging 0.88
Z1088:Hipk1 UTSW 3 103,671,860 (GRCm39) missense possibly damaging 0.95
Predicted Primers PCR Primer
(F):5'- ATAGTGCTGCTCCGGCTTTTACCTG -3'
(R):5'- CCCATTCCCCTAGTGAACTGCAAG -3'

Sequencing Primer
(F):5'- TCCTCACAGGGAATCCAGAA -3'
(R):5'- AGAGTTTATATTCCCTTAAGCCAGCC -3'
Posted On 2013-10-16