Incidental Mutation 'IGL03210:Hmgb4'
ID 413263
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Hmgb4
Ensembl Gene ENSMUSG00000048686
Gene Name high-mobility group box 4
Synonyms 1700001F22Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.131) question?
Stock # IGL03210
Quality Score
Status
Chromosome 4
Chromosomal Location 128154005-128154688 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 128154535 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 11 (V11A)
Ref Sequence ENSEMBL: ENSMUSP00000059625 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000053830] [ENSMUST00000184063]
AlphaFold Q6P8W9
Predicted Effect probably benign
Transcript: ENSMUST00000053830
AA Change: V11A

PolyPhen 2 Score 0.183 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000059625
Gene: ENSMUSG00000048686
AA Change: V11A

DomainStartEndE-ValueType
HMG 8 80 7.01e-17 SMART
HMG 92 162 3.99e-21 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000129619
Predicted Effect noncoding transcript
Transcript: ENSMUST00000131581
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144298
Predicted Effect probably benign
Transcript: ENSMUST00000184063
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921539E11Rik A G 4: 103,141,635 (GRCm39) F9L probably benign Het
Adora3 T C 3: 105,815,176 (GRCm39) S163P probably benign Het
Ark2c C A 18: 77,554,435 (GRCm39) V60L probably damaging Het
C3 G A 17: 57,522,846 (GRCm39) Q1013* probably null Het
Cacna1b A T 2: 24,540,584 (GRCm39) F1381Y probably benign Het
Dcdc2b T C 4: 129,505,578 (GRCm39) K95R probably benign Het
Dnah8 A G 17: 31,034,639 (GRCm39) E4186G probably damaging Het
Dock1 T C 7: 134,358,668 (GRCm39) V374A possibly damaging Het
Gramd2b A G 18: 56,607,170 (GRCm39) T95A probably benign Het
Grk2 C T 19: 4,337,857 (GRCm39) E508K probably benign Het
Knl1 G A 2: 118,901,098 (GRCm39) S933N probably benign Het
Ldlrad3 G A 2: 101,900,271 (GRCm39) probably benign Het
Lrrc37a T A 11: 103,390,331 (GRCm39) Y1698F probably benign Het
Ms4a14 A G 19: 11,279,325 (GRCm39) W1078R possibly damaging Het
Nol4l G A 2: 153,371,378 (GRCm39) P102L probably benign Het
Nsun3 A G 16: 62,591,110 (GRCm39) F178L probably damaging Het
Nup85 T A 11: 115,457,462 (GRCm39) Y55N probably benign Het
Opcml A G 9: 28,812,833 (GRCm39) E175G probably damaging Het
Or10a3m T A 7: 108,312,775 (GRCm39) Y60N probably damaging Het
Or11g7 A T 14: 50,691,440 (GRCm39) R310S probably benign Het
Or9g4 T C 2: 85,504,697 (GRCm39) Y266C probably damaging Het
Pask A T 1: 93,247,714 (GRCm39) W1074R possibly damaging Het
Pdzrn3 T C 6: 101,133,913 (GRCm39) T439A possibly damaging Het
Pkd1l1 C A 11: 8,915,127 (GRCm39) V138L unknown Het
Ptprj C A 2: 90,300,070 (GRCm39) V244L probably benign Het
Rapgef5 A G 12: 117,706,607 (GRCm39) K697E probably damaging Het
Rp9 G T 9: 22,368,724 (GRCm39) H78Q probably benign Het
Serpinb8 A G 1: 107,530,641 (GRCm39) T140A probably damaging Het
Slc29a4 A T 5: 142,700,863 (GRCm39) M203L probably damaging Het
Stag1 T A 9: 100,727,129 (GRCm39) L363I possibly damaging Het
Susd1 T G 4: 59,333,035 (GRCm39) probably null Het
Thoc3 A T 13: 54,614,035 (GRCm39) M196K probably benign Het
Tnr A G 1: 159,715,880 (GRCm39) T881A probably benign Het
Ttbk2 A G 2: 120,652,973 (GRCm39) V17A probably damaging Het
Ttc41 T A 10: 86,560,278 (GRCm39) probably null Het
Utp14b A G 1: 78,643,268 (GRCm39) M389V probably benign Het
Utp4 T A 8: 107,642,888 (GRCm39) H515Q probably benign Het
Xpo1 A G 11: 23,228,834 (GRCm39) H223R probably benign Het
Xpot A G 10: 121,451,132 (GRCm39) probably benign Het
Zfp455 A T 13: 67,355,113 (GRCm39) H127L possibly damaging Het
Zscan4e T A 7: 11,041,459 (GRCm39) M166L probably benign Het
Other mutations in Hmgb4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00559:Hmgb4 APN 4 128,154,082 (GRCm39) missense probably benign 0.00
IGL01701:Hmgb4 APN 4 128,154,166 (GRCm39) missense probably benign 0.01
IGL01805:Hmgb4 APN 4 128,154,015 (GRCm39) intron probably benign
IGL02752:Hmgb4 APN 4 128,154,134 (GRCm39) missense probably damaging 0.97
IGL02945:Hmgb4 APN 4 128,154,387 (GRCm39) nonsense probably null
R0012:Hmgb4 UTSW 4 128,154,518 (GRCm39) missense probably damaging 0.99
R0012:Hmgb4 UTSW 4 128,154,518 (GRCm39) missense probably damaging 0.99
R2178:Hmgb4 UTSW 4 128,154,275 (GRCm39) missense probably damaging 1.00
R6565:Hmgb4 UTSW 4 128,154,388 (GRCm39) missense probably benign 0.29
R7454:Hmgb4 UTSW 4 128,154,199 (GRCm39) missense probably damaging 1.00
Posted On 2016-08-02