Incidental Mutation 'R8311:Hmgb1'
ID 641374
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 067796-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.951) question?
Stock # R8311 (G1)
Quality Score 225.009
Status Not validated
Chromosome 5
Chromosomal Location 148983512-148989867 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 148987427 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 41 (F41L)
Ref Sequence ENSEMBL: ENSMUSP00000082682 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000085546] [ENSMUST00000093196] [ENSMUST00000110505] [ENSMUST00000125605] [ENSMUST00000138553] [ENSMUST00000139443] [ENSMUST00000202133]
AlphaFold P63158
Predicted Effect possibly damaging
Transcript: ENSMUST00000085546
AA Change: F41L

PolyPhen 2 Score 0.864 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000082682
Gene: ENSMUSG00000066551
AA Change: F41L

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 possibly damaging
Transcript: ENSMUST00000093196
AA Change: F41L

PolyPhen 2 Score 0.864 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000106131
Gene: ENSMUSG00000066551
AA Change: F41L

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 possibly damaging
Transcript: ENSMUST00000110505
AA Change: F41L

PolyPhen 2 Score 0.864 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000106132
Gene: ENSMUSG00000066551
AA Change: F41L

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 possibly damaging
Transcript: ENSMUST00000125605
AA Change: F41L

PolyPhen 2 Score 0.864 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000114515
Gene: ENSMUSG00000066551
AA Change: F41L

DomainStartEndE-ValueType
HMG 8 80 8.61e-26 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000138553
AA Change: F41L

PolyPhen 2 Score 0.864 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000118733
Gene: ENSMUSG00000066551
AA Change: F41L

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: F41L

PolyPhen 2 Score 0.211 (Sensitivity: 0.92; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000144129
Gene: ENSMUSG00000066551
AA Change: F41L

DomainStartEndE-ValueType
HMG 8 80 3.6e-28 SMART
HMG 94 164 3.2e-28 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000202133
AA Change: F55L

PolyPhen 2 Score 0.211 (Sensitivity: 0.92; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000144412
Gene: ENSMUSG00000066551
AA Change: F55L

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: 99.6%
  • 20x: 98.8%
Validation Efficiency 100% (53/53)
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: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2700049A03Rik A G 12: 71,184,815 (GRCm39) probably benign Het
4930407I10Rik T C 15: 81,947,440 (GRCm39) W446R possibly damaging Het
Aldh1l2 T A 10: 83,326,479 (GRCm39) E912D probably damaging Het
Apol9a T C 15: 77,289,220 (GRCm39) D49G possibly damaging Het
Bnc2 A T 4: 84,194,582 (GRCm39) D847E possibly damaging Het
Ccdc91 A G 6: 147,437,114 (GRCm39) N100S possibly damaging Het
Copb2 G T 9: 98,450,072 (GRCm39) K10N possibly damaging Het
Cyp4a14 A G 4: 115,348,275 (GRCm39) S401P probably damaging Het
Cyp4f15 A T 17: 32,916,914 (GRCm39) Q277L probably benign Het
Dmxl2 A T 9: 54,354,217 (GRCm39) S410T probably benign Het
Dnah9 T C 11: 65,880,644 (GRCm39) N2651S probably benign Het
Efhb A G 17: 53,720,489 (GRCm39) probably null Het
Eif4ebp1 T A 8: 27,765,124 (GRCm39) F113L probably damaging Het
Emilin2 C G 17: 71,562,141 (GRCm39) D954H probably damaging Het
Eng A G 2: 32,569,005 (GRCm39) T511A probably benign Het
Eps8l1 A G 7: 4,474,817 (GRCm39) D266G probably damaging Het
Fam120a T C 13: 49,087,433 (GRCm39) H309R possibly damaging Het
Gga3 A T 11: 115,477,834 (GRCm39) S585T probably benign Het
Gm12117 T C 11: 33,226,126 (GRCm39) Q70R probably damaging Het
Gpr158 A G 2: 21,373,701 (GRCm39) H212R probably benign Het
Iqcm T A 8: 76,480,118 (GRCm39) probably benign Het
Itgav T A 2: 83,596,121 (GRCm39) I214N probably damaging Het
Kcna1 T A 6: 126,619,255 (GRCm39) H355L probably benign Het
Lrrc37a C T 11: 103,394,247 (GRCm39) V393I probably benign Het
Mak16 T C 8: 31,658,697 (GRCm39) D4G probably damaging Het
Metap2 C T 10: 93,697,384 (GRCm39) R432H possibly damaging Het
Nlrc4 G A 17: 74,753,540 (GRCm39) T281M probably damaging Het
Ntrk1 T A 3: 87,688,870 (GRCm39) Q561L probably damaging Het
Or10ak7 A C 4: 118,791,347 (GRCm39) S231A probably damaging Het
Or10w3 A G 19: 13,704,035 (GRCm39) T137A possibly damaging Het
Pira1 T C 7: 3,739,482 (GRCm39) D462G probably benign Het
Polr2a T C 11: 69,628,282 (GRCm39) I1304V probably null Het
Ppp4r2 T C 6: 100,843,343 (GRCm39) S354P probably benign Het
Ptchd3 A G 11: 121,727,299 (GRCm39) H391R possibly damaging Het
Rchy1 T C 5: 92,099,762 (GRCm39) D192G probably damaging Het
Rmdn1 T C 4: 19,575,329 (GRCm39) probably null Het
Rp1 T A 1: 4,418,572 (GRCm39) I847L probably benign Het
Rtn1 T C 12: 72,350,838 (GRCm39) E457G probably damaging Het
Serpind1 G A 16: 17,160,730 (GRCm39) S420N possibly damaging Het
Sirpa T C 2: 129,458,143 (GRCm39) V253A probably damaging Het
Snapc4 A T 2: 26,268,546 (GRCm39) F38L probably benign Het
Spata31g1 T C 4: 42,973,169 (GRCm39) V834A probably benign Het
Srcap T C 7: 127,156,969 (GRCm39) F2321S probably damaging Het
Stat4 A T 1: 52,142,075 (GRCm39) I641F probably damaging Het
Tmem216 A T 19: 10,529,191 (GRCm39) F65Y probably benign Het
Tmem37 C T 1: 119,995,982 (GRCm39) V32M possibly damaging Het
Tmprss11c T G 5: 86,383,412 (GRCm39) Q338P probably damaging Het
Tonsl C T 15: 76,517,463 (GRCm39) S752N probably benign Het
Vmn1r26 T C 6: 57,985,518 (GRCm39) K224E probably benign Het
Vps13b T A 15: 35,887,100 (GRCm39) V3229D probably benign Het
Vwa5b2 C T 16: 20,409,972 (GRCm39) R21W probably damaging Het
Wdr37 T C 13: 8,903,609 (GRCm39) R165G unknown Het
Yars2 T C 16: 16,125,147 (GRCm39) F388L probably benign Het
Ykt6 T A 11: 5,912,366 (GRCm39) D106E probably benign Het
Zc3h12a A C 4: 125,020,788 (GRCm39) S18R possibly 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
R6885:Hmgb1 UTSW 5 148,987,471 (GRCm39) missense probably benign 0.33
R6962:Hmgb1 UTSW 5 148,985,633 (GRCm39) unclassified probably benign
R7625:Hmgb1 UTSW 5 148,987,150 (GRCm39) missense probably benign 0.09
Predicted Primers PCR Primer
(F):5'- CCTTTTCTTTAGCAGACATGGTCTAG -3'
(R):5'- CACCCTGAGCAGTTTGAAGC -3'

Sequencing Primer
(F):5'- GCCAGCCTAAAGCACTTTA -3'
(R):5'- CCCTGAGCAGTTTGAAGCTTGTC -3'
Posted On 2020-07-28