Incidental Mutation 'IGL01981:Hmg20a'
ID 183507
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 # IGL01981
Quality Score
Status
Chromosome 9
Chromosomal Location 56325893-56404220 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 56384514 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Serine at position 95 (P95S)
Ref Sequence ENSEMBL: ENSMUSP00000149375 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034879] [ENSMUST00000213242] [ENSMUST00000214771] [ENSMUST00000214869] [ENSMUST00000215269] [ENSMUST00000217518]
AlphaFold Q9DC33
Predicted Effect possibly damaging
Transcript: ENSMUST00000034879
AA Change: P95S

PolyPhen 2 Score 0.771 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000034879
Gene: ENSMUSG00000032329
AA Change: P95S

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: ENSMUST00000213242
Predicted Effect probably damaging
Transcript: ENSMUST00000214771
AA Change: P95S

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
Predicted Effect probably benign
Transcript: ENSMUST00000214869
Predicted Effect possibly damaging
Transcript: ENSMUST00000215269
AA Change: P95S

PolyPhen 2 Score 0.771 (Sensitivity: 0.85; Specificity: 0.92)
Predicted Effect possibly damaging
Transcript: ENSMUST00000217518
AA Change: P95S

PolyPhen 2 Score 0.771 (Sensitivity: 0.85; Specificity: 0.92)
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akt2 A C 7: 27,337,499 (GRCm39) D417A probably benign Het
Ap1b1 T A 11: 4,969,336 (GRCm39) S231T possibly damaging Het
Arhgap31 G A 16: 38,421,935 (GRCm39) T1377I probably damaging Het
Cdkl3 A G 11: 51,895,896 (GRCm39) T48A probably benign Het
Chd3 T C 11: 69,251,501 (GRCm39) Y510C probably damaging Het
Chml A G 1: 175,515,751 (GRCm39) S57P probably damaging Het
Cpxm1 G T 2: 130,236,060 (GRCm39) C367* probably null Het
D930020B18Rik A G 10: 121,528,319 (GRCm39) T428A probably damaging Het
Dnaja3 A T 16: 4,519,033 (GRCm39) I325F probably damaging Het
Efcab3 A T 11: 104,612,258 (GRCm39) probably benign Het
Erbb3 A G 10: 128,407,519 (GRCm39) V943A probably benign Het
Fam110b A G 4: 5,799,481 (GRCm39) I300V probably benign Het
Fam193a A G 5: 34,588,537 (GRCm39) E76G probably damaging Het
Fbxl3 G A 14: 103,332,900 (GRCm39) T26M possibly damaging Het
Furin A G 7: 80,042,647 (GRCm39) L380P probably damaging Het
Fxr2 A C 11: 69,541,328 (GRCm39) I354L possibly damaging Het
Garnl3 G T 2: 32,887,741 (GRCm39) N756K probably damaging Het
Gimap1 A G 6: 48,720,258 (GRCm39) Y290C probably damaging Het
Gm5592 G A 7: 40,935,795 (GRCm39) W99* probably null Het
Hexd G T 11: 121,107,819 (GRCm39) S183I possibly damaging Het
Jhy A T 9: 40,806,842 (GRCm39) I769N probably damaging Het
Lrrd1 G T 5: 3,901,267 (GRCm39) C524F probably damaging Het
Musk C A 4: 58,296,629 (GRCm39) S76R probably damaging Het
Myom3 C T 4: 135,513,160 (GRCm39) R613* probably null Het
Naa16 T A 14: 79,618,956 (GRCm39) E172D probably benign Het
Obox6 A T 7: 15,568,846 (GRCm39) M10K possibly damaging Het
Or5al5 A T 2: 85,961,174 (GRCm39) Y278N probably benign Het
Pam C T 1: 97,762,166 (GRCm39) V700M probably damaging Het
Phf8-ps C T 17: 33,286,628 (GRCm39) G58E probably damaging Het
Pkd1l2 C A 8: 117,743,655 (GRCm39) R1978L probably benign Het
Pkhd1 T A 1: 20,593,791 (GRCm39) T1441S possibly damaging Het
Plg A G 17: 12,621,934 (GRCm39) probably benign Het
Pot1a A G 6: 25,750,099 (GRCm39) L521P probably damaging Het
Pramel14 G A 4: 143,720,924 (GRCm39) P6S probably damaging Het
Ptprj A T 2: 90,270,256 (GRCm39) V1280E probably damaging Het
Rcbtb2 T C 14: 73,402,222 (GRCm39) S136P possibly damaging Het
Rtl1 C T 12: 109,558,369 (GRCm39) E1157K possibly damaging Het
Sell G A 1: 163,893,195 (GRCm39) R137Q probably benign Het
Shisa9 A T 16: 12,062,522 (GRCm39) M248L probably benign Het
Spag17 A G 3: 99,966,149 (GRCm39) E1144G probably benign Het
Sphk2 G T 7: 45,360,157 (GRCm39) Q616K probably benign Het
Tecrl T C 5: 83,442,453 (GRCm39) T207A probably benign Het
Ubr5 T C 15: 37,996,842 (GRCm39) T1885A probably benign Het
Usp24 T C 4: 106,232,965 (GRCm39) probably benign Het
Usp32 A G 11: 84,927,350 (GRCm39) M622T probably benign Het
Vangl1 A G 3: 102,091,607 (GRCm39) F160L probably damaging Het
Vps13d T C 4: 144,813,317 (GRCm39) S3289G probably damaging Het
Wdfy4 A G 14: 32,855,673 (GRCm39) F647S probably damaging Het
Wdhd1 A G 14: 47,498,907 (GRCm39) L509P probably damaging Het
Zcchc2 A G 1: 105,955,229 (GRCm39) E640G probably damaging Het
Zfp563 T A 17: 33,324,383 (GRCm39) I326N probably benign Het
Other mutations in Hmg20a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01305:Hmg20a APN 9 56,394,934 (GRCm39) missense probably damaging 1.00
IGL02085:Hmg20a APN 9 56,384,586 (GRCm39) nonsense probably null
IGL03284:Hmg20a APN 9 56,388,901 (GRCm39) missense probably benign 0.25
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 2014-05-07