Incidental Mutation 'R6641:Hipk1'
ID 525780
Institutional Source Beutler Lab
Gene Symbol Hipk1
Ensembl Gene ENSMUSG00000008730
Gene Name homeodomain interacting protein kinase 1
Synonyms 1110062K04Rik, Myak
MMRRC Submission 044762-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6641 (G1)
Quality Score 225.009
Status Validated
Chromosome 3
Chromosomal Location 103647131-103698879 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 103660721 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Glutamine at position 738 (L738Q)
Ref Sequence ENSEMBL: ENSMUSP00000113998 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029438] [ENSMUST00000106845] [ENSMUST00000118317] [ENSMUST00000137078]
AlphaFold O88904
Predicted Effect probably damaging
Transcript: ENSMUST00000029438
AA Change: L738Q

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000029438
Gene: ENSMUSG00000008730
AA Change: L738Q

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
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 damaging
Transcript: ENSMUST00000118317
AA Change: L738Q

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000113998
Gene: ENSMUSG00000008730
AA Change: L738Q

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: 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
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.4%
  • 20x: 91.6%
Validation Efficiency 100% (32/32)
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: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310034C09Rik C T 16: 88,555,974 (GRCm39) P63S unknown Het
Aadac T C 3: 59,947,153 (GRCm39) S284P probably damaging Het
Casp12 G A 9: 5,354,612 (GRCm39) C257Y probably benign Het
Chil6 T A 3: 106,296,240 (GRCm39) I361F possibly damaging Het
Cubn A C 2: 13,480,875 (GRCm39) S327A probably damaging Het
Desi2 A T 1: 178,071,943 (GRCm39) E82D possibly damaging Het
Dym T A 18: 75,189,712 (GRCm39) I100N probably damaging Het
Gm14418 G T 2: 177,079,623 (GRCm39) T124K probably benign Het
Gm28042 T A 2: 119,870,164 (GRCm39) I701N probably damaging Het
Gm3404 C A 5: 146,464,518 (GRCm39) A173D probably damaging Het
Klk10 G T 7: 43,434,324 (GRCm39) D239Y possibly damaging Het
Kmt2a T C 9: 44,731,132 (GRCm39) probably benign Het
Lepr T A 4: 101,622,502 (GRCm39) D427E probably damaging Het
Lrp5 G A 19: 3,702,287 (GRCm39) R177W probably damaging Het
Mtg2 A G 2: 179,727,301 (GRCm39) T318A probably benign Het
Myh7 A G 14: 55,219,737 (GRCm39) V1044A probably benign Het
Nrsn2 A G 2: 152,211,830 (GRCm39) V67A probably benign Het
Or2b11 T C 11: 59,461,666 (GRCm39) D300G possibly damaging Het
Pcdha8 A G 18: 37,126,850 (GRCm39) E444G probably damaging Het
Pdgfra T C 5: 75,322,762 (GRCm39) probably benign Het
Pik3c2a T C 7: 115,939,460 (GRCm39) probably null Het
Prpf40a T G 2: 53,031,638 (GRCm39) probably benign Het
Reln A C 5: 22,134,132 (GRCm39) Y2599D probably damaging Het
Septin11 T A 5: 93,287,411 (GRCm39) I42N probably damaging Het
Slc22a15 G A 3: 101,783,022 (GRCm39) A216V possibly damaging Het
Slc33a1 T A 3: 63,861,327 (GRCm39) T292S probably benign Het
Slc5a11 A G 7: 122,837,378 (GRCm39) K56R probably benign Het
Slc7a13 G A 4: 19,839,534 (GRCm39) G379E probably damaging Het
Spata31g1 A G 4: 42,971,245 (GRCm39) I193V possibly damaging Het
Specc1l A G 10: 75,082,383 (GRCm39) E593G probably damaging Het
Spef2 A T 15: 9,626,059 (GRCm39) M1169K probably damaging Het
Tmem161b C A 13: 84,370,537 (GRCm39) probably benign Het
Vipr1 A G 9: 121,498,631 (GRCm39) *460W probably null Het
Zbtb18 T A 1: 177,275,609 (GRCm39) L323Q probably damaging Het
Zfyve1 A G 12: 83,641,270 (GRCm39) S129P 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
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
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'- CTTCAGCAAATGTTGGGGAGG -3'
(R):5'- GATGCAAACCCGTCTGAACC -3'

Sequencing Primer
(F):5'- ATGTAGCAAGGACACAGCC -3'
(R):5'- CCAGATAACCTGCCTCGGTG -3'
Posted On 2018-06-22