Incidental Mutation 'R6885:Hmgb1'
ID 536784
Institutional Source Beutler Lab
Gene Symbol Hmgb1
Ensembl Gene ENSMUSG00000066551
Gene Name high mobility group box 1
Synonyms Hmg1, DEF, HMG-1, amphoterin, p30, SBP-1
MMRRC Submission 045031-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.951) question?
Stock # R6885 (G1)
Quality Score 206.009
Status Validated
Chromosome 5
Chromosomal Location 148983512-148989867 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 148987471 bp (GRCm39)
Zygosity Heterozygous
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]
AlphaFold P63158
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
Meta Mutation Damage Score 0.5194 question?
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: 120,119,332 (GRCm39) I1025M probably benign Het
Adamtsl5 T A 10: 80,179,465 (GRCm39) T164S probably benign Het
Ankar C T 1: 72,682,195 (GRCm39) A1239T unknown Het
Aox4 A T 1: 58,303,537 (GRCm39) S1192C probably damaging Het
Atl2 T C 17: 80,159,982 (GRCm39) D68G probably damaging Het
Btnl4 T C 17: 34,691,919 (GRCm39) I228V probably benign Het
Catsper4 T C 4: 133,942,460 (GRCm39) T231A probably benign Het
Ccl12 A T 11: 81,993,523 (GRCm39) T54S probably damaging Het
Cntn1 T C 15: 92,140,980 (GRCm39) probably null Het
Cog5 T A 12: 31,944,198 (GRCm39) D694E probably damaging Het
Crat T A 2: 30,305,208 (GRCm39) probably benign Het
Crot T C 5: 9,023,635 (GRCm39) T418A probably benign Het
Cubn G A 2: 13,323,089 (GRCm39) P2826L probably damaging Het
Dnah17 A G 11: 117,981,598 (GRCm39) F1698L possibly damaging Het
Dock8 T A 19: 25,124,742 (GRCm39) D1019E possibly damaging Het
Eps15 A G 4: 109,166,361 (GRCm39) N85D probably damaging Het
Exoc1 T C 5: 76,706,889 (GRCm39) S457P probably damaging Het
Ext1 G A 15: 52,965,088 (GRCm39) T426I probably damaging Het
Fat1 T C 8: 45,405,489 (GRCm39) S747P possibly damaging Het
Gas7 A G 11: 67,574,213 (GRCm39) D396G probably damaging Het
Gm5114 G T 7: 39,057,580 (GRCm39) R680S probably benign Het
Gpcpd1 A T 2: 132,395,994 (GRCm39) L94M possibly damaging Het
Gse1 C A 8: 120,956,221 (GRCm39) probably benign Het
Incenp C T 19: 9,852,496 (GRCm39) R714Q unknown Het
Krt73 T C 15: 101,704,833 (GRCm39) E351G probably damaging Het
Ksr1 A G 11: 78,938,121 (GRCm39) probably null Het
Lpin2 T G 17: 71,522,145 (GRCm39) S60A probably damaging Het
Lrrc71 T C 3: 87,649,927 (GRCm39) probably null Het
Mafb A G 2: 160,207,939 (GRCm39) S220P possibly damaging Het
Maml3 TCTGCTGCTGCTGCTGCTGCTGCTGTTGCTGCTGCTGCTGCTGTTGCTGCTGCTGC TCTGCTGCTGCTGCTGCTGCTGTTGCTGCTGCTGCTGCTGTTGCTGCTGCTGC 3: 51,605,000 (GRCm39) Het
Mcmbp T C 7: 128,326,833 (GRCm39) probably null Het
Or1e30 A T 11: 73,677,926 (GRCm39) H54L possibly damaging Het
Or4s2 A G 2: 88,473,941 (GRCm39) T277A probably damaging Het
Paqr9 T C 9: 95,442,096 (GRCm39) S29P probably benign Het
Parm1 A G 5: 91,742,069 (GRCm39) T146A possibly damaging Het
Pgm2 T A 5: 64,261,221 (GRCm39) F238L probably benign Het
Pigv A T 4: 133,392,792 (GRCm39) F126Y probably damaging Het
Pitx2 T C 3: 129,012,257 (GRCm39) M222T probably damaging Het
Plekhg6 T C 6: 125,355,693 (GRCm39) N37S probably benign Het
Pramel25 T C 4: 143,520,103 (GRCm39) C116R probably damaging Het
Psme4 A T 11: 30,784,307 (GRCm39) K961* probably null Het
Rbpj T C 5: 53,810,493 (GRCm39) W392R probably damaging Het
Reg3a T A 6: 78,358,038 (GRCm39) probably null Het
Rfc3 C T 5: 151,571,749 (GRCm39) S85N probably benign Het
Rtn3 T C 19: 7,435,696 (GRCm39) T80A probably benign Het
Sash1 T C 10: 8,659,985 (GRCm39) T195A probably damaging Het
Ska1 A G 18: 74,339,910 (GRCm39) V12A probably benign Het
Slc25a1 A G 16: 17,745,294 (GRCm39) V80A probably benign Het
Slc26a5 A T 5: 22,039,342 (GRCm39) V217D probably damaging Het
Slc46a1 A G 11: 78,357,805 (GRCm39) D286G probably benign Het
Spata2l A T 8: 123,962,297 (GRCm39) L88Q probably damaging Het
Sptbn1 T G 11: 30,088,634 (GRCm39) Q876P probably benign Het
Tenm2 T A 11: 35,914,407 (GRCm39) I2377F possibly damaging Het
Thbs4 A T 13: 92,899,377 (GRCm39) D539E probably damaging Het
Tmem154 T A 3: 84,599,813 (GRCm39) C162S possibly damaging Het
Tpcn1 T C 5: 120,682,502 (GRCm39) E502G probably benign Het
Traf7 G A 17: 24,731,266 (GRCm39) R257C probably benign Het
Tsc22d2 T C 3: 58,323,629 (GRCm39) Y174H probably damaging Het
Usp8 A G 2: 126,594,230 (GRCm39) E802G probably damaging Het
Vmn1r5 T C 6: 56,963,042 (GRCm39) V239A possibly damaging Het
Vmn2r99 T A 17: 19,600,457 (GRCm39) S494T possibly damaging Het
Zbtb38 A G 9: 96,568,517 (GRCm39) F856L probably damaging Het
Other mutations in Hmgb1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03092:Hmgb1 APN 5 148,987,508 (GRCm39) missense probably benign 0.25
R0335:Hmgb1 UTSW 5 148,987,441 (GRCm39) missense probably benign 0.41
R4030:Hmgb1 UTSW 5 148,987,510 (GRCm39) missense probably benign 0.28
R6962:Hmgb1 UTSW 5 148,985,633 (GRCm39) unclassified probably benign
R7625:Hmgb1 UTSW 5 148,987,150 (GRCm39) missense probably benign 0.09
R8311:Hmgb1 UTSW 5 148,987,427 (GRCm39) missense possibly damaging 0.86
Predicted Primers PCR Primer
(F):5'- CTTTAGCAGACATGGTCTAGAAAG -3'
(R):5'- TTTGTCATGCCACCCTGAGC -3'

Sequencing Primer
(F):5'- GAGATGTTCAATATGCCAGCC -3'
(R):5'- CACCCTGAGCAGTTTGAAGCTTG -3'
Posted On 2018-10-18