Incidental Mutation 'R3522:Hipk1'
ID 267523
Institutional Source Beutler Lab
Gene Symbol Hipk1
Ensembl Gene ENSMUSG00000008730
Gene Name homeodomain interacting protein kinase 1
Synonyms 1110062K04Rik, Myak
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R3522 (G1)
Quality Score 225
Status Validated
Chromosome 3
Chromosomal Location 103647131-103698879 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 103651430 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 1111 (V1111A)
Ref Sequence ENSEMBL: ENSMUSP00000102458 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029438] [ENSMUST00000106845] [ENSMUST00000106852] [ENSMUST00000118317] [ENSMUST00000137078]
AlphaFold O88904
Predicted Effect possibly damaging
Transcript: ENSMUST00000029438
AA Change: V1156A

PolyPhen 2 Score 0.942 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000029438
Gene: ENSMUSG00000008730
AA Change: V1156A

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 damaging
Transcript: ENSMUST00000106845
AA Change: V1111A

PolyPhen 2 Score 0.965 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000102458
Gene: ENSMUSG00000008730
AA Change: V1111A

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 benign
Transcript: ENSMUST00000106852
Predicted Effect possibly damaging
Transcript: ENSMUST00000118317
AA Change: V1156A

PolyPhen 2 Score 0.942 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000113998
Gene: ENSMUSG00000008730
AA Change: V1156A

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 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 0.0701 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.2%
  • 20x: 94.8%
Validation Efficiency 100% (72/72)
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: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ankrd35 A G 3: 96,592,378 (GRCm39) E888G probably damaging Het
Arhgef10 T C 8: 15,004,918 (GRCm39) F150S probably damaging Het
Atp10d G T 5: 72,396,500 (GRCm39) R235L probably benign Het
Cacna1b A G 2: 24,653,055 (GRCm39) V2A possibly damaging Het
Cand1 A T 10: 119,075,102 (GRCm39) L15Q probably benign Het
Cavin3 C A 7: 105,130,350 (GRCm39) G154V probably benign Het
Ccdc73 A T 2: 104,821,830 (GRCm39) D593V probably damaging Het
Cdk5rap2 T C 4: 70,168,647 (GRCm39) K161E probably damaging Het
Chil4 A T 3: 106,111,056 (GRCm39) N279K probably benign Het
Chst13 T G 6: 90,295,245 (GRCm39) D56A probably damaging Het
Cnn1 C A 9: 22,010,664 (GRCm39) H5N probably benign Het
Cpsf4l T A 11: 113,593,319 (GRCm39) K88N probably damaging Het
Ctnnbl1 G T 2: 157,713,113 (GRCm39) probably null Het
Dnah7a A C 1: 53,657,275 (GRCm39) F834V probably damaging Het
Fbxo41 A G 6: 85,461,163 (GRCm39) S182P probably benign Het
Fkbp5 T C 17: 28,634,970 (GRCm39) T180A probably benign Het
Flg2 T A 3: 93,127,334 (GRCm39) I2082N unknown Het
Gm4968 A G 6: 127,210,725 (GRCm39) noncoding transcript Het
Gpc5 T A 14: 116,761,747 (GRCm39) H612Q probably benign Het
Gsg1 A T 6: 135,218,251 (GRCm39) V212D probably damaging Het
Hormad1 A T 3: 95,483,596 (GRCm39) Q136L probably benign Het
Ifi35 T A 11: 101,348,511 (GRCm39) S147R probably benign Het
Iqca1l A G 5: 24,754,624 (GRCm39) probably null Het
Iqgap3 C T 3: 87,998,089 (GRCm39) A282V probably null Het
Jmy T C 13: 93,590,558 (GRCm39) D515G probably damaging Het
Kctd10 G A 5: 114,512,984 (GRCm39) R64C probably damaging Het
Kidins220 T C 12: 25,040,757 (GRCm39) V121A probably damaging Het
Lcn3 G A 2: 25,656,133 (GRCm39) V63M possibly damaging Het
Lmx1b T A 2: 33,529,543 (GRCm39) Y72F probably benign Het
Lrp1 T C 10: 127,389,424 (GRCm39) D3164G probably damaging Het
Mdh1b C T 1: 63,758,927 (GRCm39) V222M probably damaging Het
Mst1 T C 9: 107,958,702 (GRCm39) probably benign Het
Myo7b C A 18: 32,143,132 (GRCm39) V189F probably damaging Het
Ndc1 T C 4: 107,250,355 (GRCm39) S533P probably damaging Het
Ndrg3 T C 2: 156,785,947 (GRCm39) D164G probably damaging Het
Nol11 C T 11: 107,064,454 (GRCm39) C500Y possibly damaging Het
Nsd3 A G 8: 26,196,642 (GRCm39) N1208D probably benign Het
Nup155 C T 15: 8,186,162 (GRCm39) probably benign Het
Or5ak20 A T 2: 85,183,347 (GRCm39) C308S probably benign Het
Or6c38 A G 10: 128,929,711 (GRCm39) I44T possibly damaging Het
Or8b47 A G 9: 38,435,081 (GRCm39) T18A probably damaging Het
Or8b54 A T 9: 38,687,016 (GRCm39) D155V possibly damaging Het
Phf3 A G 1: 30,844,684 (GRCm39) L1425P probably damaging Het
Pla2r1 A G 2: 60,279,250 (GRCm39) Y777H probably damaging Het
Pld1 A G 3: 28,085,396 (GRCm39) E184G probably damaging Het
Plxna1 T C 6: 89,314,335 (GRCm39) probably null Het
Ptgfrn T C 3: 100,950,718 (GRCm39) E865G probably damaging Het
Ptpn13 G T 5: 103,737,720 (GRCm39) probably benign Het
Pygb G T 2: 150,670,473 (GRCm39) V763F probably benign Het
Ros1 A C 10: 51,967,091 (GRCm39) Y1705* probably null Het
Sec61a2 A G 2: 5,898,027 (GRCm39) F5L probably benign Het
Skint5 A G 4: 113,614,102 (GRCm39) probably null Het
Sntg2 A G 12: 30,362,566 (GRCm39) V60A probably damaging Het
Sppl2a A G 2: 126,762,242 (GRCm39) C280R possibly damaging Het
Srrm4 A C 5: 116,584,603 (GRCm39) M1R probably null Het
Sult1c2 T C 17: 54,279,043 (GRCm39) E91G probably damaging Het
Themis2 C G 4: 132,512,906 (GRCm39) R440P probably damaging Het
Tmem229a A G 6: 24,955,058 (GRCm39) L232P probably benign Het
Trappc1 T C 11: 69,215,248 (GRCm39) F43L probably damaging Het
Trappc11 A T 8: 47,951,708 (GRCm39) Y982N possibly damaging Het
Trpv6 A T 6: 41,604,339 (GRCm39) M139K probably damaging Het
Txnrd3 A G 6: 89,640,057 (GRCm39) probably null Het
Vmn1r184 T A 7: 25,967,008 (GRCm39) Y251* probably null Het
Vmn1r216 A G 13: 23,283,544 (GRCm39) N76D possibly damaging Het
Vmn1r71 C A 7: 10,481,792 (GRCm39) V233F probably benign Het
Vps13a A C 19: 16,743,857 (GRCm39) probably benign Het
Vwa5b2 A G 16: 20,420,358 (GRCm39) S756G probably damaging Het
Wdr36 T A 18: 32,994,538 (GRCm39) probably null Het
Wdr86 A G 5: 24,923,305 (GRCm39) V129A probably benign Het
Zfyve9 A G 4: 108,576,940 (GRCm39) L47S probably benign 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
R0785:Hipk1 UTSW 3 103,661,641 (GRCm39) splice site probably null
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
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'- TCGTGCTCATCAACTACAAGTAAG -3'
(R):5'- AGACAGCAGGCATTTGTGGC -3'

Sequencing Primer
(F):5'- GAATACTGACTGATCTTGGTAGGAC -3'
(R):5'- TACGCCTTCCAGCATGGCAG -3'
Posted On 2015-02-18