Incidental Mutation 'IGL01981:Hmg20a'
ID183507
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Hmg20a
Ensembl Gene ENSMUSG00000032329
Gene Namehigh mobility group 20A
SynonymsHmgxb1, 5730490E10Rik, 1200004E06Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.236) question?
Stock #IGL01981
Quality Score
Status
Chromosome9
Chromosomal Location56418609-56496936 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 56477230 bp
ZygosityHeterozygous
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]
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
4921501E09Rik C T 17: 33,067,654 G58E probably damaging Het
Akt2 A C 7: 27,638,074 D417A probably benign Het
Ap1b1 T A 11: 5,019,336 S231T possibly damaging Het
Arhgap31 G A 16: 38,601,573 T1377I probably damaging Het
Cdkl3 A G 11: 52,005,069 T48A probably benign Het
Chd3 T C 11: 69,360,675 Y510C probably damaging Het
Chml A G 1: 175,688,185 S57P probably damaging Het
Cpxm1 G T 2: 130,394,140 C367* probably null Het
D930020B18Rik A G 10: 121,692,414 T428A probably damaging Het
Dnaja3 A T 16: 4,701,169 I325F probably damaging Het
Erbb3 A G 10: 128,571,650 V943A probably benign Het
Fam110b A G 4: 5,799,481 I300V probably benign Het
Fam193a A G 5: 34,431,193 E76G probably damaging Het
Fbxl3 G A 14: 103,095,464 T26M possibly damaging Het
Furin A G 7: 80,392,899 L380P probably damaging Het
Fxr2 A C 11: 69,650,502 I354L possibly damaging Het
Garnl3 G T 2: 32,997,729 N756K probably damaging Het
Gimap1 A G 6: 48,743,324 Y290C probably damaging Het
Gm11639 A T 11: 104,721,432 probably benign Het
Gm5592 G A 7: 41,286,371 W99* probably null Het
Hexdc G T 11: 121,216,993 S183I possibly damaging Het
Jhy A T 9: 40,895,546 I769N probably damaging Het
Lrrd1 G T 5: 3,851,267 C524F probably damaging Het
Musk C A 4: 58,296,629 S76R probably damaging Het
Myom3 C T 4: 135,785,849 R613* probably null Het
Naa16 T A 14: 79,381,516 E172D probably benign Het
Obox6 A T 7: 15,834,921 M10K possibly damaging Het
Olfr1039 A T 2: 86,130,830 Y278N probably benign Het
Pam C T 1: 97,834,441 V700M probably damaging Het
Pkd1l2 C A 8: 117,016,916 R1978L probably benign Het
Pkhd1 T A 1: 20,523,567 T1441S possibly damaging Het
Plg A G 17: 12,403,047 probably benign Het
Pot1a A G 6: 25,750,100 L521P probably damaging Het
Pramef17 G A 4: 143,994,354 P6S probably damaging Het
Ptprj A T 2: 90,439,912 V1280E probably damaging Het
Rcbtb2 T C 14: 73,164,782 S136P possibly damaging Het
Rtl1 C T 12: 109,591,935 E1157K possibly damaging Het
Sell G A 1: 164,065,626 R137Q probably benign Het
Shisa9 A T 16: 12,244,658 M248L probably benign Het
Spag17 A G 3: 100,058,833 E1144G probably benign Het
Sphk2 G T 7: 45,710,733 Q616K probably benign Het
Tecrl T C 5: 83,294,606 T207A probably benign Het
Ubr5 T C 15: 37,996,598 T1885A probably benign Het
Usp24 T C 4: 106,375,768 probably benign Het
Usp32 A G 11: 85,036,524 M622T probably benign Het
Vangl1 A G 3: 102,184,291 F160L probably damaging Het
Vps13d T C 4: 145,086,747 S3289G probably damaging Het
Wdfy4 A G 14: 33,133,716 F647S probably damaging Het
Wdhd1 A G 14: 47,261,450 L509P probably damaging Het
Zcchc2 A G 1: 106,027,499 E640G probably damaging Het
Zfp563 T A 17: 33,105,409 I326N probably benign Het
Other mutations in Hmg20a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01305:Hmg20a APN 9 56487650 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
P0033:Hmg20a UTSW 9 56489824 missense probably benign 0.01
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
Posted On2014-05-07