Incidental Mutation 'IGL02686:Hipk1'
ID303568
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Hipk1
Ensembl Gene ENSMUSG00000008730
Gene Namehomeodomain interacting protein kinase 1
Synonyms1110062K04Rik, Myak
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02686
Quality Score
Status
Chromosome3
Chromosomal Location103739815-103791563 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 103778017 bp
ZygosityHeterozygous
Amino Acid Change Serine to Asparagine at position 94 (S94N)
Ref Sequence ENSEMBL: ENSMUSP00000120396 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029438] [ENSMUST00000106845] [ENSMUST00000118317] [ENSMUST00000137078]
Predicted Effect probably benign
Transcript: ENSMUST00000029438
AA Change: S94N

PolyPhen 2 Score 0.100 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000029438
Gene: ENSMUSG00000008730
AA Change: S94N

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: ENSMUST00000106845
AA Change: S94N

PolyPhen 2 Score 0.100 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000102458
Gene: ENSMUSG00000008730
AA Change: S94N

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: ENSMUST00000118317
AA Change: S94N

PolyPhen 2 Score 0.100 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000113998
Gene: ENSMUSG00000008730
AA Change: S94N

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 noncoding transcript
Transcript: ENSMUST00000123155
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135634
Predicted Effect possibly damaging
Transcript: ENSMUST00000137078
AA Change: S94N

PolyPhen 2 Score 0.816 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000120396
Gene: ENSMUSG00000008730
AA Change: S94N

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: ENSMUST00000138430
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152867
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154868
Predicted Effect noncoding transcript
Transcript: ENSMUST00000196896
Coding Region Coverage
Validation Efficiency
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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam4 C T 12: 81,421,674 G58S possibly damaging Het
Adcyap1r1 G A 6: 55,481,125 A304T probably benign Het
Adipoq A G 16: 23,157,115 T110A possibly damaging Het
Ago2 T C 15: 73,113,742 Y668C possibly damaging Het
Ampd2 A T 3: 108,076,495 D575E possibly damaging Het
Anxa5 C T 3: 36,449,355 E317K probably benign Het
Atf2 A T 2: 73,845,500 M169K possibly damaging Het
Bicc1 C A 10: 70,943,360 probably benign Het
Bicra A G 7: 15,987,915 M559T probably benign Het
Cacna1e G A 1: 154,493,409 A294V probably damaging Het
Cacna1h G A 17: 25,385,749 P1197S possibly damaging Het
Cmya5 G A 13: 93,090,997 Q2528* probably null Het
Csgalnact1 C A 8: 68,401,492 G219V probably damaging Het
Cts8 T C 13: 61,250,970 T241A probably benign Het
Cubn T C 2: 13,325,226 I2615V possibly damaging Het
Cxcl12 A G 6: 117,173,585 probably benign Het
Fig4 T C 10: 41,264,004 D307G probably damaging Het
Flt1 T C 5: 147,588,602 I909V probably damaging Het
Foxk1 T A 5: 142,453,585 S427T probably damaging Het
Gosr1 G A 11: 76,750,862 T130M probably benign Het
Grik1 G T 16: 88,009,761 probably null Het
Ints7 T C 1: 191,586,592 L147P probably damaging Het
Nsd3 A G 8: 25,666,070 D551G probably damaging Het
Olfr510 A T 7: 108,667,886 I157F probably benign Het
Olfr741 G A 14: 50,485,969 M170I probably benign Het
Prrc2c T C 1: 162,707,947 probably benign Het
Ren1 A T 1: 133,358,469 N250I possibly damaging Het
Ripply2 A C 9: 87,015,956 probably benign Het
Ryr1 G T 7: 29,069,550 probably benign Het
Smad3 T A 9: 63,667,782 K51M probably damaging Het
Snapc1 C A 12: 73,964,596 probably benign Het
Srfbp1 T G 18: 52,475,654 V42G probably damaging Het
Srrm1 G A 4: 135,325,104 P658L unknown Het
Tab1 T C 15: 80,148,830 V105A probably benign Het
Tat T C 8: 109,996,849 V323A probably damaging Het
Tdo2 T C 3: 81,968,155 N164S probably benign Het
Tefm T A 11: 80,136,896 L345F probably damaging Het
Tmem145 C A 7: 25,314,725 N407K probably damaging Het
Uhrf1bp1 T C 17: 27,894,589 I1245T probably benign Het
Uhrf1bp1l A T 10: 89,805,193 Q742L probably benign Het
Vmn2r116 A G 17: 23,388,793 N445S probably damaging Het
Vmn2r20 A G 6: 123,385,626 M733T probably benign Het
Vmn2r93 G A 17: 18,313,264 V477M possibly damaging Het
Zdhhc4 A G 5: 143,320,391 F194S probably damaging Het
Zfp738 A T 13: 67,673,652 S25T probably damaging Het
Other mutations in Hipk1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00792:Hipk1 APN 3 103778160 missense possibly damaging 0.49
IGL01024:Hipk1 APN 3 103760636 missense probably benign 0.31
IGL01069:Hipk1 APN 3 103777699 missense possibly damaging 0.95
IGL01798:Hipk1 APN 3 103761559 missense probably damaging 0.99
IGL01937:Hipk1 APN 3 103744004 missense possibly damaging 0.71
IGL01945:Hipk1 APN 3 103744004 missense possibly damaging 0.71
IGL02184:Hipk1 APN 3 103758750 missense possibly damaging 0.96
IGL02430:Hipk1 APN 3 103760655 missense probably damaging 1.00
IGL02603:Hipk1 APN 3 103750272 missense probably damaging 0.97
IGL02632:Hipk1 APN 3 103760545 missense probably benign 0.14
IGL03293:Hipk1 APN 3 103777259 missense possibly damaging 0.83
effluvient UTSW 3 103754325 splice site probably null
R0012:Hipk1 UTSW 3 103763680 missense probably damaging 0.98
R0012:Hipk1 UTSW 3 103763680 missense probably damaging 0.98
R0512:Hipk1 UTSW 3 103760574 missense possibly damaging 0.95
R0741:Hipk1 UTSW 3 103746812 missense probably benign 0.17
R0785:Hipk1 UTSW 3 103754325 splice site probably null
R0786:Hipk1 UTSW 3 103744304 missense probably benign
R0833:Hipk1 UTSW 3 103754296 missense probably damaging 0.98
R0836:Hipk1 UTSW 3 103754296 missense probably damaging 0.98
R1165:Hipk1 UTSW 3 103761524 missense possibly damaging 0.62
R1322:Hipk1 UTSW 3 103743981 missense probably damaging 1.00
R1384:Hipk1 UTSW 3 103758774 splice site probably benign
R1521:Hipk1 UTSW 3 103777782 missense probably benign 0.16
R1543:Hipk1 UTSW 3 103778164 missense probably benign 0.00
R2085:Hipk1 UTSW 3 103750354 missense probably benign 0.00
R2158:Hipk1 UTSW 3 103760538 missense probably damaging 1.00
R2291:Hipk1 UTSW 3 103761610 missense probably damaging 1.00
R3522:Hipk1 UTSW 3 103744114 missense probably damaging 0.96
R4516:Hipk1 UTSW 3 103750372 missense probably damaging 0.98
R4518:Hipk1 UTSW 3 103750372 missense probably damaging 0.98
R4884:Hipk1 UTSW 3 103744022 missense possibly damaging 0.47
R5023:Hipk1 UTSW 3 103777507 missense probably damaging 1.00
R6045:Hipk1 UTSW 3 103746902 missense probably benign 0.45
R6641:Hipk1 UTSW 3 103753405 missense probably damaging 0.99
R6904:Hipk1 UTSW 3 103777512 missense possibly damaging 0.90
R6925:Hipk1 UTSW 3 103778245 missense unknown
Z1088:Hipk1 UTSW 3 103764544 missense possibly damaging 0.95
Posted On2015-04-16