Incidental Mutation 'R6885:Hmgb1'
ID536784
Institutional Source Beutler Lab
Gene Symbol Hmgb1
Ensembl Gene ENSMUSG00000066551
Gene Namehigh mobility group box 1
Synonymsamphoterin, SBP-1, DEF, p30, HMG-1, Hmg1
MMRRC Submission
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.948) question?
Stock #R6885 (G1)
Quality Score206.009
Status Validated
Chromosome5
Chromosomal Location149046702-149184489 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 149050661 bp
ZygosityHeterozygous
Amino Acid Change Glutamic Acid to Glycine at position 26 (E26G)
Ref Sequence ENSEMBL: ENSMUSP00000118733 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000085546] [ENSMUST00000093196] [ENSMUST00000110505] [ENSMUST00000125605] [ENSMUST00000138553] [ENSMUST00000139443] [ENSMUST00000202133]
Predicted Effect probably benign
Transcript: ENSMUST00000085546
AA Change: E26G

PolyPhen 2 Score 0.327 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000082682
Gene: ENSMUSG00000066551
AA Change: E26G

DomainStartEndE-ValueType
HMG 8 80 8.61e-26 SMART
HMG 94 164 3.98e-30 SMART
coiled coil region 175 215 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000093196
AA Change: E26G

PolyPhen 2 Score 0.327 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000106131
Gene: ENSMUSG00000066551
AA Change: E26G

DomainStartEndE-ValueType
HMG 8 80 8.61e-26 SMART
HMG 94 164 3.98e-30 SMART
coiled coil region 175 215 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000110505
AA Change: E26G

PolyPhen 2 Score 0.327 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000106132
Gene: ENSMUSG00000066551
AA Change: E26G

DomainStartEndE-ValueType
HMG 8 80 8.61e-26 SMART
HMG 94 164 3.98e-30 SMART
coiled coil region 175 215 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000125605
AA Change: E26G

PolyPhen 2 Score 0.327 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000114515
Gene: ENSMUSG00000066551
AA Change: E26G

DomainStartEndE-ValueType
HMG 8 80 8.61e-26 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000138553
AA Change: E26G

PolyPhen 2 Score 0.327 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000118733
Gene: ENSMUSG00000066551
AA Change: E26G

DomainStartEndE-ValueType
HMG 8 80 8.61e-26 SMART
Pfam:HMG_box 95 125 5.7e-11 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000139443
AA Change: E26G

PolyPhen 2 Score 0.210 (Sensitivity: 0.92; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000144129
Gene: ENSMUSG00000066551
AA Change: E26G

DomainStartEndE-ValueType
HMG 8 80 3.6e-28 SMART
HMG 94 164 3.2e-28 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000202133
AA Change: E40G

PolyPhen 2 Score 0.088 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000144412
Gene: ENSMUSG00000066551
AA Change: E40G

DomainStartEndE-ValueType
HMG 22 94 3.6e-28 SMART
HMG 108 178 1.7e-32 SMART
low complexity region 183 210 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.3%
Validation Efficiency 98% (58/59)
MGI Phenotype FUNCTION: This gene encodes a protein that belongs to the High Mobility Group-box superfamily. The encoded non-histone, nuclear DNA-binding protein regulates transcription, and is involved in organization of DNA. This protein plays a role in several cellular processes, including inflammation, cell differentiation and tumor cell migration. Multiple pseudogenes of this gene have been identified. Alternative splicing results in multiple transcript variants that encode the same protein. [provided by RefSeq, Sep 2015]
PHENOTYPE: Homozygous null mice display partial or complete neonatal lethality due to hypoglycemia depending on the strain background, with open eyelids at birth, atelectasis, and lethargy. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca16 A G 7: 120,520,109 I1025M probably benign Het
Adamtsl5 T A 10: 80,343,631 T164S probably benign Het
Ankar C T 1: 72,643,036 A1239T unknown Het
Aox4 A T 1: 58,264,378 S1192C probably damaging Het
Atl2 T C 17: 79,852,553 D68G probably damaging Het
Btnl4 T C 17: 34,472,945 I228V probably benign Het
Catsper4 T C 4: 134,215,149 T231A probably benign Het
Ccl12 A T 11: 82,102,697 T54S probably damaging Het
Cntn1 T C 15: 92,243,099 probably null Het
Cog5 T A 12: 31,894,199 D694E probably damaging Het
Crat T A 2: 30,415,196 probably benign Het
Crot T C 5: 8,973,635 T418A probably benign Het
Cubn G A 2: 13,318,278 P2826L probably damaging Het
Dnah17 A G 11: 118,090,772 F1698L possibly damaging Het
Dock8 T A 19: 25,147,378 D1019E possibly damaging Het
Eps15 A G 4: 109,309,164 N85D probably damaging Het
Exoc1 T C 5: 76,559,042 S457P probably damaging Het
Ext1 G A 15: 53,101,692 T426I probably damaging Het
Fat1 T C 8: 44,952,452 S747P possibly damaging Het
Gas7 A G 11: 67,683,387 D396G probably damaging Het
Gm13023 T C 4: 143,793,533 C116R probably damaging Het
Gm5114 G T 7: 39,408,156 R680S probably benign Het
Gpcpd1 A T 2: 132,554,074 L94M possibly damaging Het
Gse1 C A 8: 120,229,482 probably benign Het
Incenp C T 19: 9,875,132 R714Q unknown Het
Krt73 T C 15: 101,796,398 E351G probably damaging Het
Ksr1 A G 11: 79,047,295 probably null Het
Lpin2 T G 17: 71,215,150 S60A probably damaging Het
Lrrc71 T C 3: 87,742,620 probably null Het
Mafb A G 2: 160,366,019 S220P possibly damaging Het
Maml3 TCTGCTGCTGCTGCTGCTGCTGCTGTTGCTGCTGCTGCTGCTGTTGCTGCTGCTGC TCTGCTGCTGCTGCTGCTGCTGTTGCTGCTGCTGCTGCTGTTGCTGCTGCTGC 3: 51,697,579 Het
Mcmbp T C 7: 128,725,109 probably null Het
Olfr1191-ps1 A G 2: 88,643,597 T277A probably damaging Het
Olfr390 A T 11: 73,787,100 H54L possibly damaging Het
Paqr9 T C 9: 95,560,043 S29P probably benign Het
Parm1 A G 5: 91,594,210 T146A possibly damaging Het
Pgm1 T A 5: 64,103,878 F238L probably benign Het
Pigv A T 4: 133,665,481 F126Y probably damaging Het
Pitx2 T C 3: 129,218,608 M222T probably damaging Het
Plekhg6 T C 6: 125,378,730 N37S probably benign Het
Psme4 A T 11: 30,834,307 K961* probably null Het
Rbpj T C 5: 53,653,151 W392R probably damaging Het
Reg3a T A 6: 78,381,055 probably null Het
Rfc3 C T 5: 151,648,284 S85N probably benign Het
Rtn3 T C 19: 7,458,331 T80A probably benign Het
Sash1 T C 10: 8,784,221 T195A probably damaging Het
Ska1 A G 18: 74,206,839 V12A probably benign Het
Slc25a1 A G 16: 17,927,430 V80A probably benign Het
Slc26a5 A T 5: 21,834,344 V217D probably damaging Het
Slc46a1 A G 11: 78,466,979 D286G probably benign Het
Spata2l A T 8: 123,235,558 L88Q probably damaging Het
Sptbn1 T G 11: 30,138,634 Q876P probably benign Het
Tenm2 T A 11: 36,023,580 I2377F possibly damaging Het
Thbs4 A T 13: 92,762,869 D539E probably damaging Het
Tmem154 T A 3: 84,692,506 C162S possibly damaging Het
Tpcn1 T C 5: 120,544,437 E502G probably benign Het
Traf7 G A 17: 24,512,292 R257C probably benign Het
Tsc22d2 T C 3: 58,416,208 Y174H probably damaging Het
Usp8 A G 2: 126,752,310 E802G probably damaging Het
Vmn1r5 T C 6: 56,986,057 V239A possibly damaging Het
Vmn2r99 T A 17: 19,380,195 S494T possibly damaging Het
Zbtb38 A G 9: 96,686,464 F856L probably damaging Het
Other mutations in Hmgb1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03092:Hmgb1 APN 5 149050698 missense probably benign 0.25
R0335:Hmgb1 UTSW 5 149050631 missense probably benign 0.41
R4030:Hmgb1 UTSW 5 149050700 missense probably benign 0.28
R6962:Hmgb1 UTSW 5 149048823 unclassified probably benign
Predicted Primers PCR Primer
(F):5'- CTTTAGCAGACATGGTCTAGAAAG -3'
(R):5'- TTTGTCATGCCACCCTGAGC -3'

Sequencing Primer
(F):5'- GAGATGTTCAATATGCCAGCC -3'
(R):5'- CACCCTGAGCAGTTTGAAGCTTG -3'
Posted On2018-10-18