Incidental Mutation 'R5490:Hmgxb3'
ID 432064
Institutional Source Beutler Lab
Gene Symbol Hmgxb3
Ensembl Gene ENSMUSG00000024622
Gene Name HMG box domain containing 3
Synonyms 2510002C16Rik, A630042L21Rik
MMRRC Submission 043051-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.749) question?
Stock # R5490 (G1)
Quality Score 225
Status Not validated
Chromosome 18
Chromosomal Location 61264349-61310122 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 61296049 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 320 (S320P)
Ref Sequence ENSEMBL: ENSMUSP00000089498 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000091884]
AlphaFold Q6AXF8
Predicted Effect probably damaging
Transcript: ENSMUST00000091884
AA Change: S320P

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000089498
Gene: ENSMUSG00000024622
AA Change: S320P

DomainStartEndE-ValueType
HMG 40 110 6.8e-15 SMART
low complexity region 182 194 N/A INTRINSIC
internal_repeat_1 307 336 1.98e-9 PROSPERO
internal_repeat_1 583 612 1.98e-9 PROSPERO
low complexity region 817 830 N/A INTRINSIC
low complexity region 966 977 N/A INTRINSIC
low complexity region 1239 1254 N/A INTRINSIC
Coding Region Coverage
  • 1x: 98.3%
  • 3x: 97.3%
  • 10x: 95.2%
  • 20x: 90.8%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is one of the non-canonical high mobility group (HMG) genes. The encoded protein contains an HMG-box domain found in DNA binding proteins such as transcription factors and chromosomal proteins. [provided by RefSeq, Aug 2011]
Allele List at MGI
Other mutations in this stock
Total: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aatf C T 11: 84,401,099 (GRCm39) G174D probably damaging Het
Abcc1 G T 16: 14,228,781 (GRCm39) G343C probably damaging Het
Asic2 T C 11: 80,780,646 (GRCm39) N370S probably benign Het
Btnl9 T C 11: 49,060,395 (GRCm39) E451G probably damaging Het
Cblb A G 16: 51,994,733 (GRCm39) H658R possibly damaging Het
Cdca2 T C 14: 67,917,733 (GRCm39) E555G possibly damaging Het
Chfr A G 5: 110,300,995 (GRCm39) S299G possibly damaging Het
Eea1 A G 10: 95,861,916 (GRCm39) E741G probably benign Het
Gapvd1 T C 2: 34,583,445 (GRCm39) D1057G probably benign Het
Glyat C T 19: 12,627,645 (GRCm39) T80M probably benign Het
Gpr87 T C 3: 59,086,747 (GRCm39) S253G probably damaging Het
Hapstr1 T A 16: 8,673,721 (GRCm39) V216E probably damaging Het
Kcnq5 C T 1: 21,549,692 (GRCm39) G345D probably damaging Het
Kif5c T C 2: 49,648,870 (GRCm39) V938A probably benign Het
Klk14 G A 7: 43,341,501 (GRCm39) C51Y probably damaging Het
Madd G T 2: 91,000,980 (GRCm39) T467K possibly damaging Het
Mamdc4 T C 2: 25,455,890 (GRCm39) D706G probably damaging Het
Map2 A G 1: 66,452,292 (GRCm39) H476R probably damaging Het
Mgat4f A G 1: 134,317,666 (GRCm39) D146G probably damaging Het
Mpeg1 T C 19: 12,439,057 (GRCm39) S172P probably damaging Het
Nkx2-3 A T 19: 43,601,093 (GRCm39) T52S probably benign Het
Nup210 C T 6: 91,062,970 (GRCm39) V230I probably damaging Het
Or1j19 T A 2: 36,677,193 (GRCm39) Y219N probably damaging Het
Or51f2 T C 7: 102,527,100 (GRCm39) S258P probably damaging Het
Or5g9 G T 2: 85,552,666 (GRCm39) A306S probably benign Het
Pepd A G 7: 34,642,115 (GRCm39) probably null Het
Ppp1r36 T A 12: 76,484,760 (GRCm39) W238R probably damaging Het
Ppp1r36 G T 12: 76,484,761 (GRCm39) W238L possibly damaging Het
Prpf6 T G 2: 181,249,958 (GRCm39) D39E probably benign Het
Rassf5 T A 1: 131,108,932 (GRCm39) Q163L possibly damaging Het
Rbm43 T A 2: 51,815,607 (GRCm39) T205S probably benign Het
Relch T A 1: 105,647,226 (GRCm39) V672D probably damaging Het
Robo4 CGG CG 9: 37,322,786 (GRCm39) probably null Het
Sds C A 5: 120,621,715 (GRCm39) Q286K possibly damaging Het
Slc35a3 A T 3: 116,474,839 (GRCm39) C184* probably null Het
Smg1 G A 7: 117,738,659 (GRCm39) T3530I possibly damaging Het
Sspo T C 6: 48,470,214 (GRCm39) V591A probably benign Het
Stam2 T C 2: 52,610,929 (GRCm39) D31G probably damaging Het
Star A G 8: 26,299,945 (GRCm39) K96E probably damaging Het
Syne3 A G 12: 104,921,931 (GRCm39) L495P probably damaging Het
Tceanc2 A T 4: 107,022,846 (GRCm39) M47K probably benign Het
Tecpr2 T C 12: 110,881,118 (GRCm39) L85P probably damaging Het
Tmem241 C T 18: 12,176,320 (GRCm39) R116K probably benign Het
Yipf2 G A 9: 21,503,487 (GRCm39) A20V probably benign Het
Zc3h4 T A 7: 16,162,930 (GRCm39) D443E unknown Het
Zfp184 T A 13: 22,142,747 (GRCm39) V151D probably benign Het
Zhx1 T C 15: 57,916,695 (GRCm39) Y517C probably damaging Het
Other mutations in Hmgxb3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00594:Hmgxb3 APN 18 61,290,811 (GRCm39) missense probably benign 0.00
IGL01325:Hmgxb3 APN 18 61,267,078 (GRCm39) missense probably damaging 1.00
IGL01364:Hmgxb3 APN 18 61,279,506 (GRCm39) missense probably damaging 0.96
IGL02160:Hmgxb3 APN 18 61,304,308 (GRCm39) missense probably damaging 1.00
IGL02271:Hmgxb3 APN 18 61,265,285 (GRCm39) missense probably damaging 1.00
IGL02755:Hmgxb3 APN 18 61,305,260 (GRCm39) missense probably damaging 1.00
R0309:Hmgxb3 UTSW 18 61,288,200 (GRCm39) splice site probably benign
R0828:Hmgxb3 UTSW 18 61,304,426 (GRCm39) missense probably damaging 1.00
R1276:Hmgxb3 UTSW 18 61,298,576 (GRCm39) missense probably benign 0.04
R1429:Hmgxb3 UTSW 18 61,283,505 (GRCm39) missense probably damaging 0.98
R1491:Hmgxb3 UTSW 18 61,266,980 (GRCm39) missense probably benign 0.04
R1675:Hmgxb3 UTSW 18 61,268,631 (GRCm39) missense probably damaging 1.00
R1886:Hmgxb3 UTSW 18 61,270,473 (GRCm39) critical splice donor site probably null
R1887:Hmgxb3 UTSW 18 61,270,473 (GRCm39) critical splice donor site probably null
R2070:Hmgxb3 UTSW 18 61,304,431 (GRCm39) missense probably damaging 1.00
R2084:Hmgxb3 UTSW 18 61,288,095 (GRCm39) splice site probably benign
R2110:Hmgxb3 UTSW 18 61,288,458 (GRCm39) missense possibly damaging 0.54
R2112:Hmgxb3 UTSW 18 61,288,458 (GRCm39) missense possibly damaging 0.54
R2149:Hmgxb3 UTSW 18 61,290,746 (GRCm39) missense probably benign 0.08
R2342:Hmgxb3 UTSW 18 61,296,063 (GRCm39) missense possibly damaging 0.89
R2436:Hmgxb3 UTSW 18 61,280,566 (GRCm39) missense probably benign
R2898:Hmgxb3 UTSW 18 61,288,368 (GRCm39) missense probably benign 0.00
R2975:Hmgxb3 UTSW 18 61,296,038 (GRCm39) nonsense probably null
R3110:Hmgxb3 UTSW 18 61,280,454 (GRCm39) missense probably damaging 1.00
R3111:Hmgxb3 UTSW 18 61,280,454 (GRCm39) missense probably damaging 1.00
R3112:Hmgxb3 UTSW 18 61,280,454 (GRCm39) missense probably damaging 1.00
R4327:Hmgxb3 UTSW 18 61,300,611 (GRCm39) missense probably benign 0.11
R4710:Hmgxb3 UTSW 18 61,270,547 (GRCm39) missense probably damaging 1.00
R4750:Hmgxb3 UTSW 18 61,300,568 (GRCm39) missense probably benign
R4876:Hmgxb3 UTSW 18 61,279,606 (GRCm39) missense possibly damaging 0.94
R5177:Hmgxb3 UTSW 18 61,305,266 (GRCm39) missense probably damaging 1.00
R5601:Hmgxb3 UTSW 18 61,270,694 (GRCm39) missense probably damaging 1.00
R5718:Hmgxb3 UTSW 18 61,273,909 (GRCm39) missense probably benign 0.05
R6011:Hmgxb3 UTSW 18 61,296,096 (GRCm39) missense probably damaging 0.97
R6034:Hmgxb3 UTSW 18 61,265,594 (GRCm39) missense probably damaging 1.00
R6034:Hmgxb3 UTSW 18 61,265,594 (GRCm39) missense probably damaging 1.00
R6092:Hmgxb3 UTSW 18 61,270,672 (GRCm39) missense possibly damaging 0.56
R6142:Hmgxb3 UTSW 18 61,269,309 (GRCm39) missense probably benign 0.00
R6419:Hmgxb3 UTSW 18 61,285,296 (GRCm39) missense possibly damaging 0.71
R6675:Hmgxb3 UTSW 18 61,270,648 (GRCm39) missense possibly damaging 0.86
R7130:Hmgxb3 UTSW 18 61,265,450 (GRCm39) missense probably benign
R7431:Hmgxb3 UTSW 18 61,280,517 (GRCm39) missense probably damaging 1.00
R8265:Hmgxb3 UTSW 18 61,300,410 (GRCm39) missense possibly damaging 0.77
R8559:Hmgxb3 UTSW 18 61,288,491 (GRCm39) missense probably benign 0.19
R8674:Hmgxb3 UTSW 18 61,269,303 (GRCm39) missense probably benign 0.37
R8711:Hmgxb3 UTSW 18 61,290,721 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- TGCATCACAGACACGTTCAAG -3'
(R):5'- ATTGAGCGAGATTCTGATACAGCG -3'

Sequencing Primer
(F):5'- CGTTCAAGGTTTAAAACAAGCCAG -3'
(R):5'- AGCACTATGGGCTGCCATATTCAG -3'
Posted On 2016-10-05