Incidental Mutation 'R7213:Hbp1'
ID561240
Institutional Source Beutler Lab
Gene Symbol Hbp1
Ensembl Gene ENSMUSG00000002996
Gene Namehigh mobility group box transcription factor 1
Synonyms1700058O05Rik, C86454, C330012F01Rik
MMRRC Submission
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.865) question?
Stock #R7213 (G1)
Quality Score225.009
Status Validated
Chromosome12
Chromosomal Location31926254-31950535 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 31937197 bp
ZygosityHeterozygous
Amino Acid Change Serine to Threonine at position 219 (S219T)
Ref Sequence ENSEMBL: ENSMUSP00000131158 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000036862] [ENSMUST00000167458] [ENSMUST00000172314] [ENSMUST00000175686] [ENSMUST00000176084] [ENSMUST00000176103] [ENSMUST00000176520]
Predicted Effect probably benign
Transcript: ENSMUST00000036862
SMART Domains Protein: ENSMUSP00000044797
Gene: ENSMUSG00000035933

DomainStartEndE-ValueType
low complexity region 9 23 N/A INTRINSIC
Pfam:COG5 35 158 3.8e-37 PFAM
Pfam:Vps51 37 120 1.8e-12 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000167458
AA Change: S219T

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000131983
Gene: ENSMUSG00000002996
AA Change: S219T

DomainStartEndE-ValueType
low complexity region 162 176 N/A INTRINSIC
AXH 220 350 1.35e-88 SMART
PDB:1S5R|A 368 390 6e-7 PDB
low complexity region 406 424 N/A INTRINSIC
PDB:2E6O|A 437 474 6e-20 PDB
SCOP:d1cg7a_ 443 474 2e-9 SMART
Blast:HMG 445 474 3e-14 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000172314
AA Change: S219T

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000131158
Gene: ENSMUSG00000002996
AA Change: S219T

DomainStartEndE-ValueType
low complexity region 162 176 N/A INTRINSIC
AXH 220 350 1.35e-88 SMART
PDB:1S5R|A 368 390 7e-7 PDB
low complexity region 406 424 N/A INTRINSIC
HMG 445 515 8.7e-13 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000175686
AA Change: S223T

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000135080
Gene: ENSMUSG00000002996
AA Change: S223T

DomainStartEndE-ValueType
low complexity region 166 180 N/A INTRINSIC
AXH 224 354 1.35e-88 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000176084
AA Change: S209T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000135489
Gene: ENSMUSG00000002996
AA Change: S209T

DomainStartEndE-ValueType
low complexity region 152 166 N/A INTRINSIC
PDB:3QVE|C 206 230 7e-10 PDB
Blast:AXH 210 230 2e-6 BLAST
Predicted Effect probably damaging
Transcript: ENSMUST00000176103
AA Change: S219T

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000135508
Gene: ENSMUSG00000002996
AA Change: S219T

DomainStartEndE-ValueType
low complexity region 162 176 N/A INTRINSIC
PDB:1V06|A 218 265 1e-28 PDB
Blast:AXH 220 265 1e-25 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000176520
AA Change: S209T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000135155
Gene: ENSMUSG00000002996
AA Change: S209T

DomainStartEndE-ValueType
low complexity region 152 166 N/A INTRINSIC
Pfam:AXH 215 288 3.1e-15 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000176643
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 99% (80/81)
MGI Phenotype PHENOTYPE: Mice heterozygous for a gene trapped allele have behavioral abnormalities and show alterations in leukocyte, platelet and NK cell number, blood urea nitrogen levels, and circulating amylase and calcium levels. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 80 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2010315B03Rik G T 9: 124,293,900 Y131* probably null Het
2310009B15Rik A T 1: 138,853,629 V94D probably damaging Het
Actr1b T A 1: 36,702,140 N120I probably damaging Het
Adam17 A T 12: 21,336,678 Y452* probably null Het
Adam19 A T 11: 46,121,471 T265S probably benign Het
Adgrb1 A G 15: 74,569,884 T945A probably benign Het
BC067074 T A 13: 113,317,941 F174I Het
Bpifa5 G A 2: 154,165,983 V182M possibly damaging Het
Celsr3 C T 9: 108,849,040 T3156I probably damaging Het
Cntrl A G 2: 35,135,680 M674V possibly damaging Het
Cry2 C T 2: 92,413,659 V390I probably benign Het
Cwc25 G T 11: 97,754,029 Q168K probably benign Het
Dcbld2 C T 16: 58,450,763 A301V probably benign Het
Dclre1a T C 19: 56,529,635 Y1004C probably damaging Het
Ddhd1 A C 14: 45,657,753 S87A probably benign Het
Ear1 A G 14: 43,819,154 C86R probably damaging Het
Epha5 T C 5: 84,233,923 probably null Het
Fat2 A T 11: 55,281,045 Y2947* probably null Het
Fat4 G A 3: 38,999,087 V4077M possibly damaging Het
Fbxl12 A T 9: 20,639,008 V140E probably damaging Het
Fbxo16 A G 14: 65,299,419 probably null Het
Fto A T 8: 91,391,507 Q29L probably benign Het
Gk5 C T 9: 96,145,712 T200M probably damaging Het
Gm5916 C T 9: 36,128,650 G14E possibly damaging Het
Gm9972 A T 11: 43,036,408 probably benign Het
Gpr139 T A 7: 119,145,099 M88L probably benign Het
Gpr26 T C 7: 131,967,490 L188P probably damaging Het
Hist1h2ab G T 13: 23,751,163 A11S unknown Het
Hr A T 14: 70,558,350 E445V probably damaging Het
Il12rb1 A G 8: 70,816,453 K426E probably benign Het
Itgbl1 G A 14: 123,973,297 C469Y probably damaging Het
Kdm2b A T 5: 122,921,469 N523K probably damaging Het
Kptn A G 7: 16,120,779 N125S possibly damaging Het
Krt17 T C 11: 100,258,530 N238S probably benign Het
Lemd3 G A 10: 120,978,240 R363* probably null Het
Mmrn1 G A 6: 60,944,543 probably benign Het
Mtus1 T C 8: 41,084,487 D64G probably damaging Het
Muc16 A G 9: 18,641,416 V4527A probably benign Het
Naip2 T A 13: 100,187,483 D193V probably damaging Het
Nbeal1 G C 1: 60,237,151 V684L probably benign Het
Nf1 A G 11: 79,469,819 H1462R probably benign Het
Olfr133 T C 17: 38,149,074 V162A probably benign Het
Olfr988 A T 2: 85,353,556 Y123* probably null Het
Pappa2 T A 1: 158,936,886 T352S possibly damaging Het
Pcnt A G 10: 76,408,904 L1114P probably damaging Het
Pde6b T C 5: 108,404,090 Y212H probably damaging Het
Pik3c2g A T 6: 139,860,264 I604F Het
Pld2 A G 11: 70,553,372 D498G probably benign Het
Prag1 A T 8: 36,146,615 Q1107L probably damaging Het
Pwp1 A T 10: 85,876,309 I110F probably benign Het
Rims4 C T 2: 163,864,061 V218I probably benign Het
Rnf10 C T 5: 115,242,473 S754N probably damaging Het
Rnf10 T C 5: 115,242,474 S754G probably damaging Het
Sel1l2 A T 2: 140,244,135 V512E probably damaging Het
Shank2 T A 7: 144,031,409 M49K probably benign Het
Sipa1 T C 19: 5,660,523 D153G probably damaging Het
Slc46a2 C T 4: 59,914,279 V215I possibly damaging Het
Slco6c1 G A 1: 97,127,946 L77F probably benign Het
Smarca2 T C 19: 26,647,131 L397P possibly damaging Het
Spg7 C T 8: 123,090,232 A554V probably damaging Het
Stab1 T A 14: 31,143,673 M1753L probably benign Het
Stk11 A G 10: 80,116,618 M1V probably null Het
Supt6 C A 11: 78,232,150 G136C probably damaging Het
Svil G T 18: 5,094,574 R1418L probably damaging Het
Tfg A G 16: 56,701,153 S167P probably benign Het
Timeless T C 10: 128,243,289 V335A probably benign Het
Tll2 C A 19: 41,120,227 R328L probably damaging Het
Tomm7 T C 5: 23,844,061 S5G possibly damaging Het
Ttc39c G A 18: 12,687,081 probably null Het
Ttn T C 2: 76,725,761 E30300G probably benign Het
Tuba4a A T 1: 75,215,697 D452E possibly damaging Het
Tubgcp2 T C 7: 140,008,014 I233V probably benign Het
Tubgcp5 T A 7: 55,806,112 V296E probably damaging Het
Vmn2r53 T C 7: 12,601,056 S226G probably benign Het
Xrcc6 T C 15: 82,016,826 probably benign Het
Zfhx4 C A 3: 5,396,644 D1192E probably benign Het
Zfp180 G T 7: 24,104,513 W119L possibly damaging Het
Zfp3 A G 11: 70,772,525 I437V probably benign Het
Zfp616 A T 11: 74,085,863 Q986L probably benign Het
Zfp937 T A 2: 150,239,465 C472S probably damaging Het
Other mutations in Hbp1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02114:Hbp1 APN 12 31930675 unclassified probably benign
Sliver UTSW 12 31937247 missense probably damaging 0.99
R4135:Hbp1 UTSW 12 31934422 missense probably damaging 1.00
R4569:Hbp1 UTSW 12 31950232 unclassified probably benign
R5324:Hbp1 UTSW 12 31928618 missense probably damaging 1.00
R5910:Hbp1 UTSW 12 31937652 missense probably benign 0.19
R5936:Hbp1 UTSW 12 31937096 splice site probably null
R6062:Hbp1 UTSW 12 31937247 missense probably damaging 0.99
R6439:Hbp1 UTSW 12 31937721 missense probably damaging 1.00
R7017:Hbp1 UTSW 12 31943853 missense probably damaging 1.00
R7519:Hbp1 UTSW 12 31933375 missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AGCAAAGTCTTCCACATCTTGC -3'
(R):5'- GAAAACATTACCTTTCCCCAATCTG -3'

Sequencing Primer
(F):5'- AAAGTCTTCCACATCTTGCCATTC -3'
(R):5'- GTTTTGAAGAACATACAGATGCAC -3'
Posted On2019-06-26