Incidental Mutation 'P0033:Hmg20a'
ID7723
Institutional Source Beutler Lab
Gene Symbol Hmg20a
Ensembl Gene ENSMUSG00000032329
Gene Namehigh mobility group 20A
SynonymsHmgxb1, 5730490E10Rik, 1200004E06Rik
MMRRC Submission 038284-MU
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #P0033 (G1)
Quality Score
Status Validated
Chromosome9
Chromosomal Location56418609-56496936 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 56489824 bp
ZygosityHeterozygous
Amino Acid Change Serine to Glycine at position 303 (S303G)
Ref Sequence ENSEMBL: ENSMUSP00000149698 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034879] [ENSMUST00000215269] [ENSMUST00000217518]
Predicted Effect probably benign
Transcript: ENSMUST00000034879
AA Change: S303G

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000034879
Gene: ENSMUSG00000032329
AA Change: S303G

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: ENSMUST00000215269
AA Change: S303G

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
Predicted Effect probably benign
Transcript: ENSMUST00000217518
Meta Mutation Damage Score 0.0791 question?
Coding Region Coverage
  • 1x: 81.1%
  • 3x: 72.9%
  • 10x: 47.1%
  • 20x: 23.7%
Validation Efficiency 86% (108/125)
Allele List at MGI
Other mutations in this stock
Total: 23 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Depdc1a T C 3: 159,516,141 S241P probably damaging Het
Dusp19 T A 2: 80,617,385 M1K probably null Het
Egfem1 G C 3: 29,690,191 Q526H probably damaging Het
Gm10856 C A 15: 79,845,822 noncoding transcript Het
Gm5901 A G 7: 105,377,505 Y160C probably damaging Het
Lmbrd1 A G 1: 24,685,565 T77A possibly damaging Het
Map3k5 C T 10: 20,132,213 probably benign Het
Ncapg2 G A 12: 116,438,635 V696I probably benign Het
Orm3 A T 4: 63,356,302 T35S probably damaging Het
Pdgfra A G 5: 75,192,561 E1004G probably damaging Het
Pigg T A 5: 108,342,078 F850I probably damaging Het
Ppip5k2 A G 1: 97,717,528 V1067A probably damaging Het
Ptprd T A 4: 76,128,854 R392* probably null Het
Rad54b T A 4: 11,609,285 probably benign Het
Rapgef4 T C 2: 72,137,331 probably benign Het
Rasef T C 4: 73,749,852 N134S probably benign Het
Sfswap C T 5: 129,539,755 P421L possibly damaging Het
Sorcs1 T A 19: 50,152,907 I1129F probably damaging Het
Spats2l G A 1: 57,885,838 E132K probably damaging Het
Tet3 A G 6: 83,368,512 S1648P probably damaging Het
Ttc16 T A 2: 32,762,574 T691S probably benign Het
Usp38 C T 8: 80,981,896 D1018N probably benign Het
Zcchc14 A C 8: 121,610,159 probably benign Het
Other mutations in Hmg20a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01305:Hmg20a APN 9 56487650 missense probably damaging 1.00
IGL01981:Hmg20a APN 9 56477230 missense probably damaging 1.00
IGL02085:Hmg20a APN 9 56477302 nonsense probably null
IGL03284:Hmg20a APN 9 56481617 missense probably benign 0.25
ANU22:Hmg20a UTSW 9 56487650 missense probably damaging 1.00
R0369:Hmg20a UTSW 9 56487650 missense probably damaging 1.00
R0710:Hmg20a UTSW 9 56474670 missense possibly damaging 0.84
R1405:Hmg20a UTSW 9 56477303 missense possibly damaging 0.66
R1405:Hmg20a UTSW 9 56477303 missense possibly damaging 0.66
R1546:Hmg20a UTSW 9 56467401 missense possibly damaging 0.56
R2188:Hmg20a UTSW 9 56477300 missense possibly damaging 0.93
R4730:Hmg20a UTSW 9 56467419 missense possibly damaging 0.85
R4956:Hmg20a UTSW 9 56481664 missense probably damaging 1.00
R6115:Hmg20a UTSW 9 56489832 missense possibly damaging 0.95
R6130:Hmg20a UTSW 9 56488607 splice site probably null
R6152:Hmg20a UTSW 9 56481608 missense probably damaging 1.00
R6961:Hmg20a UTSW 9 56488728 missense probably benign 0.29
R7499:Hmg20a UTSW 9 56488943 missense unknown
Posted On2012-10-29