Incidental Mutation 'IGL03293:Hipk1'
ID 415959
Institutional Source Australian Phenomics Network (link to record)
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 # IGL03293
Quality Score
Status
Chromosome 3
Chromosomal Location 103647131-103698879 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 103684575 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Serine at position 347 (A347S)
Ref Sequence ENSEMBL: ENSMUSP00000113998 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029438] [ENSMUST00000106845] [ENSMUST00000118317] [ENSMUST00000137078]
AlphaFold O88904
Predicted Effect possibly damaging
Transcript: ENSMUST00000029438
AA Change: A347S

PolyPhen 2 Score 0.831 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000029438
Gene: ENSMUSG00000008730
AA Change: A347S

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 possibly damaging
Transcript: ENSMUST00000106845
AA Change: A347S

PolyPhen 2 Score 0.831 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000102458
Gene: ENSMUSG00000008730
AA Change: A347S

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 possibly damaging
Transcript: ENSMUST00000118317
AA Change: A347S

PolyPhen 2 Score 0.831 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000113998
Gene: ENSMUSG00000008730
AA Change: A347S

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: A347S

PolyPhen 2 Score 0.513 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000120396
Gene: ENSMUSG00000008730
AA Change: A347S

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: ENSMUST00000154868
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152867
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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A830018L16Rik T A 1: 11,615,375 (GRCm39) probably null Het
Akr1c14 C T 13: 4,129,130 (GRCm39) R45* probably null Het
Ccdc62 T A 5: 124,089,288 (GRCm39) L309I possibly damaging Het
Ccdc66 T A 14: 27,212,628 (GRCm39) N565I probably damaging Het
Cerkl G T 2: 79,172,719 (GRCm39) A318E probably damaging Het
Clec4n A T 6: 123,209,105 (GRCm39) T57S probably benign Het
Cluh A G 11: 74,556,578 (GRCm39) E921G probably benign Het
Cnbd1 C T 4: 18,860,565 (GRCm39) E394K possibly damaging Het
Dmgdh G T 13: 93,843,209 (GRCm39) M348I probably benign Het
Dnajc13 G A 9: 104,051,625 (GRCm39) S1744L possibly damaging Het
Dspp A T 5: 104,325,427 (GRCm39) S597C unknown Het
Dync1h1 A T 12: 110,595,168 (GRCm39) N1360I probably benign Het
Eepd1 A G 9: 25,514,708 (GRCm39) H505R possibly damaging Het
Entr1 A T 2: 26,277,688 (GRCm39) probably benign Het
Gcnt7 T C 2: 172,296,303 (GRCm39) T174A possibly damaging Het
Gnb1 T C 4: 155,625,004 (GRCm39) probably benign Het
Gpam A G 19: 55,059,448 (GRCm39) S800P probably benign Het
Gsr T C 8: 34,185,024 (GRCm39) probably benign Het
Herc2 A G 7: 55,804,878 (GRCm39) K2302R probably benign Het
Iqgap2 T C 13: 95,867,942 (GRCm39) N222S probably damaging Het
Marco T A 1: 120,422,524 (GRCm39) M46L probably benign Het
Morc2b A T 17: 33,357,337 (GRCm39) V145D probably damaging Het
Mprip C A 11: 59,586,989 (GRCm39) P54Q probably damaging Het
Ndufv2 A T 17: 66,390,444 (GRCm39) C175* probably null Het
Or13c25 A G 4: 52,910,835 (GRCm39) *320Q probably null Het
Or4p20 T C 2: 88,253,571 (GRCm39) D266G probably damaging Het
Orc3 A C 4: 34,595,210 (GRCm39) I195S probably damaging Het
Otos C A 1: 92,572,135 (GRCm39) E64* probably null Het
Plxna2 T C 1: 194,487,253 (GRCm39) S1603P probably damaging Het
Rlf A T 4: 121,005,527 (GRCm39) I1151N probably benign Het
Scaper A G 9: 55,782,107 (GRCm39) V283A probably benign Het
Slc25a43 A G X: 36,039,252 (GRCm39) T270A probably benign Het
Slc35a5 A G 16: 44,964,144 (GRCm39) V78A probably damaging Het
Smurf1 A T 5: 144,818,609 (GRCm39) D636E probably benign Het
Tchhl1 A T 3: 93,377,582 (GRCm39) E95D probably damaging Het
Tcp10a A G 17: 7,593,891 (GRCm39) E72G possibly damaging Het
Tmem232 A G 17: 65,757,369 (GRCm39) S275P probably damaging Het
Ugt1a5 T C 1: 88,094,540 (GRCm39) F256S probably damaging Het
Ulbp3 A G 10: 3,075,699 (GRCm39) noncoding transcript Het
Vmn2r5 A G 3: 64,398,747 (GRCm39) V744A probably benign Het
Vmn2r53 A T 7: 12,332,349 (GRCm39) S433R probably benign Het
Vmn2r9 A T 5: 108,995,997 (GRCm39) I217N probably damaging Het
Wdr83 G T 8: 85,807,216 (GRCm39) A10E 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
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
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
Posted On 2016-08-02