Incidental Mutation 'IGL03284:Hmg20a'
ID 415663
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Hmg20a
Ensembl Gene ENSMUSG00000032329
Gene Name high mobility group 20A
Synonyms 5730490E10Rik, Hmgxb1, 1200004E06Rik
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL03284
Quality Score
Status
Chromosome 9
Chromosomal Location 56325893-56404220 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 56388901 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 156 (D156G)
Ref Sequence ENSEMBL: ENSMUSP00000149359 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034879] [ENSMUST00000214771] [ENSMUST00000215269] [ENSMUST00000217518]
AlphaFold Q9DC33
Predicted Effect probably benign
Transcript: ENSMUST00000034879
AA Change: D156G

PolyPhen 2 Score 0.250 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000034879
Gene: ENSMUSG00000032329
AA Change: D156G

DomainStartEndE-ValueType
low complexity region 80 94 N/A INTRINSIC
HMG 101 171 1.86e-21 SMART
coiled coil region 228 272 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000214771
Predicted Effect probably benign
Transcript: ENSMUST00000215269
AA Change: D156G

PolyPhen 2 Score 0.250 (Sensitivity: 0.91; Specificity: 0.88)
Predicted Effect probably benign
Transcript: ENSMUST00000217518
AA Change: D156G

PolyPhen 2 Score 0.250 (Sensitivity: 0.91; Specificity: 0.88)
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 19 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam5 A T 8: 25,276,354 (GRCm39) probably benign Het
Atxn7l3b T C 10: 112,764,431 (GRCm39) D66G probably benign Het
Dmac2 T C 7: 25,321,851 (GRCm39) probably null Het
Ephb2 A G 4: 136,388,827 (GRCm39) M590T probably damaging Het
Fbxo41 C T 6: 85,456,747 (GRCm39) R474H probably damaging Het
Fcgbp G T 7: 27,784,857 (GRCm39) A306S possibly damaging Het
Hapstr1 A G 16: 8,673,786 (GRCm39) I238V possibly damaging Het
Mast4 A G 13: 102,887,905 (GRCm39) V1168A probably damaging Het
Oog2 A G 4: 143,923,177 (GRCm39) probably benign Het
Pate12 T A 9: 36,344,759 (GRCm39) C96S probably damaging Het
Pkhd1l1 T A 15: 44,410,914 (GRCm39) probably benign Het
Psmd6 A T 14: 14,112,546 (GRCm38) N351K probably benign Het
Ralgps1 T C 2: 33,036,577 (GRCm39) probably benign Het
Rbl1 C T 2: 157,035,989 (GRCm39) probably benign Het
Smarcc1 G A 9: 110,004,142 (GRCm39) V399I probably benign Het
Srek1 C A 13: 103,897,045 (GRCm39) V99F probably damaging Het
Styxl1 A G 5: 135,785,949 (GRCm39) V32A possibly damaging Het
Tnn C T 1: 159,953,022 (GRCm39) V673I probably benign Het
Vmn2r107 T A 17: 20,577,173 (GRCm39) D390E probably benign Het
Other mutations in Hmg20a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01305:Hmg20a APN 9 56,394,934 (GRCm39) missense probably damaging 1.00
IGL01981:Hmg20a APN 9 56,384,514 (GRCm39) missense probably damaging 1.00
IGL02085:Hmg20a APN 9 56,384,586 (GRCm39) nonsense probably null
ANU22:Hmg20a UTSW 9 56,394,934 (GRCm39) missense probably damaging 1.00
P0033:Hmg20a UTSW 9 56,397,108 (GRCm39) missense probably benign 0.01
R0369:Hmg20a UTSW 9 56,394,934 (GRCm39) missense probably damaging 1.00
R0710:Hmg20a UTSW 9 56,381,954 (GRCm39) missense possibly damaging 0.84
R1405:Hmg20a UTSW 9 56,384,587 (GRCm39) missense possibly damaging 0.66
R1405:Hmg20a UTSW 9 56,384,587 (GRCm39) missense possibly damaging 0.66
R1546:Hmg20a UTSW 9 56,374,685 (GRCm39) missense possibly damaging 0.56
R2188:Hmg20a UTSW 9 56,384,584 (GRCm39) missense possibly damaging 0.93
R4730:Hmg20a UTSW 9 56,374,703 (GRCm39) missense possibly damaging 0.85
R4956:Hmg20a UTSW 9 56,388,948 (GRCm39) missense probably damaging 1.00
R6115:Hmg20a UTSW 9 56,397,116 (GRCm39) missense possibly damaging 0.95
R6130:Hmg20a UTSW 9 56,395,891 (GRCm39) splice site probably null
R6152:Hmg20a UTSW 9 56,388,892 (GRCm39) missense probably damaging 1.00
R6961:Hmg20a UTSW 9 56,396,012 (GRCm39) missense probably benign 0.29
R7499:Hmg20a UTSW 9 56,396,227 (GRCm39) missense unknown
R9567:Hmg20a UTSW 9 56,384,472 (GRCm39) missense probably benign 0.06
R9689:Hmg20a UTSW 9 56,381,823 (GRCm39) missense possibly damaging 0.68
Posted On 2016-08-02