Incidental Mutation 'IGL03092:Hmgb1'
ID418418
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Hmgb1
Ensembl Gene ENSMUSG00000066551
Gene Namehigh mobility group box 1
Synonymsamphoterin, SBP-1, DEF, p30, HMG-1, Hmg1
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.954) question?
Stock #IGL03092
Quality Score
Status
Chromosome5
Chromosomal Location149046702-149184489 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 149050698 bp
ZygosityHeterozygous
Amino Acid Change Serine to Threonine at position 14 (S14T)
Ref Sequence ENSEMBL: ENSMUSP00000114515 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000085546] [ENSMUST00000093196] [ENSMUST00000110505] [ENSMUST00000125605] [ENSMUST00000138553] [ENSMUST00000139443] [ENSMUST00000202133]
Predicted Effect probably benign
Transcript: ENSMUST00000085546
AA Change: S14T

PolyPhen 2 Score 0.066 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000082682
Gene: ENSMUSG00000066551
AA Change: S14T

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: S14T

PolyPhen 2 Score 0.066 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000106131
Gene: ENSMUSG00000066551
AA Change: S14T

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: S14T

PolyPhen 2 Score 0.066 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000106132
Gene: ENSMUSG00000066551
AA Change: S14T

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 noncoding transcript
Transcript: ENSMUST00000123645
Predicted Effect probably benign
Transcript: ENSMUST00000125605
AA Change: S14T

PolyPhen 2 Score 0.245 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000114515
Gene: ENSMUSG00000066551
AA Change: S14T

DomainStartEndE-ValueType
HMG 8 80 8.61e-26 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133667
Predicted Effect probably benign
Transcript: ENSMUST00000138553
AA Change: S14T

PolyPhen 2 Score 0.031 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000118733
Gene: ENSMUSG00000066551
AA Change: S14T

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: S14T

PolyPhen 2 Score 0.085 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000144129
Gene: ENSMUSG00000066551
AA Change: S14T

DomainStartEndE-ValueType
HMG 8 80 3.6e-28 SMART
HMG 94 164 3.2e-28 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155086
Predicted Effect probably benign
Transcript: ENSMUST00000202133
AA Change: S28T

PolyPhen 2 Score 0.089 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000144412
Gene: ENSMUSG00000066551
AA Change: S28T

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
Validation Efficiency
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: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700006A11Rik A G 3: 124,406,470 L491P probably damaging Het
5430419D17Rik G T 7: 131,201,798 probably null Het
Abcc6 T A 7: 45,986,470 D1051V probably damaging Het
Aqr T A 2: 114,158,943 E133V probably benign Het
Bag6 A G 17: 35,145,627 N911D probably damaging Het
BC024978 T C 7: 27,201,136 M180T probably damaging Het
Ces4a C T 8: 105,148,204 probably benign Het
Clec3b A T 9: 123,151,035 probably benign Het
Cnot1 T C 8: 95,769,615 probably benign Het
Ctsg T A 14: 56,099,960 *262L probably null Het
Cyp17a1 T A 19: 46,672,611 H78L possibly damaging Het
Dcaf13 C A 15: 39,127,976 probably benign Het
Dcun1d1 G T 3: 35,920,992 Q52K possibly damaging Het
Ddb1 C T 19: 10,612,945 R279W probably damaging Het
Dock1 A G 7: 134,765,216 probably benign Het
Dsel A G 1: 111,860,063 L914P probably damaging Het
Fbxo31 A G 8: 121,560,018 F174L probably benign Het
Gm9116 A G 3: 93,910,206 noncoding transcript Het
Gspt1 C T 16: 11,238,899 V211I probably benign Het
Igsf8 A G 1: 172,312,529 probably benign Het
Klf13 A G 7: 63,891,669 F237L probably damaging Het
Mon2 A T 10: 123,018,100 I962N probably damaging Het
Nfx1 A G 4: 41,024,851 D1108G probably damaging Het
Nr2e1 T C 10: 42,571,482 Y178C probably damaging Het
Olfr1426 C A 19: 12,087,866 E309* probably null Het
Olfr646 A T 7: 104,106,647 I123F probably damaging Het
Pde3b A T 7: 114,523,348 H717L probably damaging Het
Polr1b T C 2: 129,123,129 Y712H probably damaging Het
Pramef25 C A 4: 143,950,197 K112N probably damaging Het
Rnf157 T A 11: 116,347,969 probably null Het
Ros1 T C 10: 52,098,806 E1561G probably damaging Het
Serpina6 A G 12: 103,653,895 probably null Het
St18 A G 1: 6,768,894 probably benign Het
Ugp2 A G 11: 21,329,722 probably benign Het
Vmn1r70 T C 7: 10,634,259 S225P probably benign Het
Zfp641 T C 15: 98,290,516 D161G probably damaging Het
Other mutations in Hmgb1
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0335:Hmgb1 UTSW 5 149050631 missense probably benign 0.41
R4030:Hmgb1 UTSW 5 149050700 missense probably benign 0.28
R6885:Hmgb1 UTSW 5 149050661 missense probably benign 0.33
R6962:Hmgb1 UTSW 5 149048823 unclassified probably benign
R7625:Hmgb1 UTSW 5 149050340 missense probably benign 0.09
R8311:Hmgb1 UTSW 5 149050617 missense possibly damaging 0.86
Posted On2016-08-02