Incidental Mutation 'R2188:Hmg20a'
ID 237927
Institutional Source Beutler Lab
Gene Symbol Hmg20a
Ensembl Gene ENSMUSG00000032329
Gene Name high mobility group 20A
Synonyms 5730490E10Rik, Hmgxb1, 1200004E06Rik
MMRRC Submission 040190-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R2188 (G1)
Quality Score 225
Status Not validated
Chromosome 9
Chromosomal Location 56325893-56404220 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 56384584 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 118 (E118G)
Ref Sequence ENSEMBL: ENSMUSP00000149359 (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: E118G

PolyPhen 2 Score 0.930 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000034879
Gene: ENSMUSG00000032329
AA Change: E118G

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 possibly damaging
Transcript: ENSMUST00000214771
AA Change: E118G

PolyPhen 2 Score 0.608 (Sensitivity: 0.87; Specificity: 0.91)
Predicted Effect probably benign
Transcript: ENSMUST00000214869
Predicted Effect possibly damaging
Transcript: ENSMUST00000215269
AA Change: E118G

PolyPhen 2 Score 0.930 (Sensitivity: 0.81; Specificity: 0.94)
Predicted Effect possibly damaging
Transcript: ENSMUST00000217518
AA Change: E118G

PolyPhen 2 Score 0.930 (Sensitivity: 0.81; Specificity: 0.94)
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.1%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca7 T C 10: 79,838,367 (GRCm39) L547P probably damaging Het
Arhgap29 A C 3: 121,784,658 (GRCm39) D195A probably damaging Het
Atad3a A T 4: 155,835,976 (GRCm39) I274N probably damaging Het
Ccdc12 G T 9: 110,485,699 (GRCm39) K23N possibly damaging Het
Ccpg1 A G 9: 72,920,388 (GRCm39) T668A probably benign Het
Cdc34b T C 11: 94,632,998 (GRCm39) I66T probably benign Het
Dnah1 A G 14: 31,001,121 (GRCm39) I2408T probably damaging Het
Fam91a1 A C 15: 58,302,512 (GRCm39) N284T probably damaging Het
Gbp2b A T 3: 142,314,040 (GRCm39) E440V probably benign Het
Gm5134 T C 10: 75,831,670 (GRCm39) S370P probably damaging Het
Hmcn2 G A 2: 31,309,947 (GRCm39) A3238T probably benign Het
Itprid2 T C 2: 79,475,267 (GRCm39) S409P probably benign Het
Kdm5a T A 6: 120,383,601 (GRCm39) F781I possibly damaging Het
Klk14 G A 7: 43,341,501 (GRCm39) C51Y probably damaging Het
Kmt2d A G 15: 98,737,181 (GRCm39) probably benign Het
Lrp1b T C 2: 41,298,971 (GRCm39) T857A probably benign Het
Mucl2 T A 15: 103,927,840 (GRCm39) N39I probably damaging Het
Myl6 A G 10: 128,328,566 (GRCm39) I27T possibly damaging Het
Ndor1 A T 2: 25,141,765 (GRCm39) probably null Het
Nlrp9a A G 7: 26,264,354 (GRCm39) E758G probably damaging Het
Or52h7 G A 7: 104,213,883 (GRCm39) A152T probably benign Het
Or8u8 A T 2: 86,011,780 (GRCm39) I225N probably damaging Het
Parp3 G A 9: 106,353,051 (GRCm39) R42W probably damaging Het
Pik3c2g A G 6: 139,798,600 (GRCm39) I495V probably damaging Het
Qrfprl C A 6: 65,418,260 (GRCm39) H143N probably damaging Het
Sdsl C T 5: 120,596,485 (GRCm39) G310S probably damaging Het
Sec24a A G 11: 51,614,411 (GRCm39) L531P probably damaging Het
Slc2a12 C T 10: 22,540,736 (GRCm39) S197F probably benign Het
Snapc1 T A 12: 74,017,001 (GRCm39) I213N probably damaging Het
Srpk1 A T 17: 28,813,163 (GRCm39) I527N probably damaging Het
Steap2 G T 5: 5,723,643 (GRCm39) Y412* probably null Het
Tbk1 A C 10: 121,399,836 (GRCm39) Y329* probably null Het
Tekt5 T C 16: 10,176,189 (GRCm39) E452G probably damaging Het
Tmc5 G T 7: 118,254,178 (GRCm39) C672F probably damaging Het
Trim27 T C 13: 21,367,987 (GRCm39) L201S probably damaging Het
Vil1 A C 1: 74,466,724 (GRCm39) D638A probably benign Het
Vmn2r68 TCC TC 7: 84,870,758 (GRCm39) probably null Het
Zfp583 C T 7: 6,320,610 (GRCm39) R134H 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
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
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
Predicted Primers PCR Primer
(F):5'- ACCTCGTGTCCTATTTGACG -3'
(R):5'- GATCTGCTATGTGCTACCACC -3'

Sequencing Primer
(F):5'- TGTTACTATTGCTGATGACTTACTTG -3'
(R):5'- CTCAAATCCTCTGGAGTAGCAGTG -3'
Posted On 2014-10-02