Incidental Mutation 'IGL00792:Hipk1'
ID277964
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 #IGL00792
Quality Score
Status
Chromosome3
Chromosomal Location103739815-103791563 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to T at 103778160 bp
ZygosityHeterozygous
Amino Acid Change Serine to Arginine at position 46 (S46R)
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: S46R

PolyPhen 2 Score 0.221 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000029438
Gene: ENSMUSG00000008730
AA Change: S46R

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: S46R

PolyPhen 2 Score 0.221 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000102458
Gene: ENSMUSG00000008730
AA Change: S46R

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: S46R

PolyPhen 2 Score 0.221 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000113998
Gene: ENSMUSG00000008730
AA Change: S46R

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: S46R

PolyPhen 2 Score 0.486 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000120396
Gene: ENSMUSG00000008730
AA Change: S46R

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: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc1 A G 16: 14,410,926 I346V probably benign Het
Actl7a A T 4: 56,743,944 Y157F possibly damaging Het
Adcy9 A G 16: 4,288,539 F904L probably damaging Het
Ap1m1 A G 8: 72,255,755 D369G possibly damaging Het
Atp23 A T 10: 126,901,100 probably null Het
Atp5h A G 11: 115,417,849 probably null Het
Btf3l4 G A 4: 108,816,859 S153L probably benign Het
Carf G T 1: 60,126,009 V117L possibly damaging Het
Cntnap1 C A 11: 101,178,966 N290K probably benign Het
Dgkb G A 12: 38,214,389 probably null Het
Dmbt1 T A 7: 131,097,607 C989S possibly damaging Het
Epb41l1 C T 2: 156,525,019 R591C probably damaging Het
Fam219a A G 4: 41,521,684 V74A probably benign Het
Frrs1 T A 3: 116,885,295 probably null Het
Gm13547 A T 2: 29,763,405 D85V probably damaging Het
Ifih1 T A 2: 62,645,870 R21W probably damaging Het
Ift43 A T 12: 86,140,066 Q87L probably null Het
Kcnn1 G A 8: 70,854,716 L178F probably benign Het
Kel G T 6: 41,702,012 N172K probably damaging Het
Krtap3-2 A T 11: 99,556,546 Y85* probably null Het
Lrrc49 A G 9: 60,687,838 S8P probably damaging Het
Med23 T C 10: 24,877,004 I20T possibly damaging Het
Pde4d A G 13: 109,935,395 K364E possibly damaging Het
Ppp2r3a T C 9: 101,211,301 K608E possibly damaging Het
Robo4 C T 9: 37,408,211 L586F probably damaging Het
Rprd2 A G 3: 95,785,104 S191P probably benign Het
Samhd1 A T 2: 157,120,548 H242Q probably damaging Het
Slc30a9 T A 5: 67,342,109 N283K probably damaging Het
Slc4a9 T C 18: 36,539,596 probably benign Het
Ssfa2 C T 2: 79,657,463 A630V probably benign Het
Stk36 G T 1: 74,611,117 L269F probably benign Het
Thop1 T A 10: 81,078,599 L240* probably null Het
Tmem52b T A 6: 129,516,741 S106T probably damaging Het
Ttn T A 2: 76,725,626 D30345V probably damaging Het
Vtcn1 T C 3: 100,888,347 V210A probably damaging Het
Zfp568 A G 7: 30,015,072 R124G probably benign Het
Other mutations in Hipk1
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
IGL02686:Hipk1 APN 3 103778017 missense possibly damaging 0.82
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
R7169:Hipk1 UTSW 3 103744217 missense probably benign
R7212:Hipk1 UTSW 3 103777610 nonsense probably null
R7313:Hipk1 UTSW 3 103778258 missense unknown
R7678:Hipk1 UTSW 3 103760550 missense probably damaging 0.98
Z1088:Hipk1 UTSW 3 103764544 missense possibly damaging 0.95
Posted On2015-04-16