Incidental Mutation 'R5340:H2bl1'
ID 422291
Institutional Source Beutler Lab
Gene Symbol H2bl1
Ensembl Gene ENSMUSG00000045022
Gene Name H2B.L histone variant 1
Synonyms SubH2Bv, 1700024P04Rik
MMRRC Submission 042919-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5340 (G1)
Quality Score 225
Status Not validated
Chromosome 13
Chromosomal Location 99120598-99121073 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 99120951 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Histidine at position 25 (R25H)
Ref Sequence ENSEMBL: ENSMUSP00000053046 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000054425]
AlphaFold Q9D9Z7
Predicted Effect possibly damaging
Transcript: ENSMUST00000054425
AA Change: R25H

PolyPhen 2 Score 0.954 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000053046
Gene: ENSMUSG00000045022
AA Change: R25H

DomainStartEndE-ValueType
H2B 21 122 1.43e-22 SMART
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.8%
  • 10x: 97.7%
  • 20x: 96.3%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aqp7 T C 4: 41,034,347 (GRCm39) R271G probably benign Het
Atp4a A G 7: 30,420,231 (GRCm39) I793V probably benign Het
Baz2a C T 10: 127,950,911 (GRCm39) R535C probably damaging Het
BC034090 T C 1: 155,102,160 (GRCm39) T35A possibly damaging Het
Bnip1 T C 17: 27,005,764 (GRCm39) probably null Het
Ccdc136 A G 6: 29,411,859 (GRCm39) S369G possibly damaging Het
Csrnp3 A G 2: 65,852,781 (GRCm39) D391G probably benign Het
Ctbp2 G T 7: 132,615,692 (GRCm39) H414Q probably benign Het
Dnah6 A G 6: 73,189,603 (GRCm39) I15T probably benign Het
Dync2li1 A G 17: 84,957,130 (GRCm39) probably null Het
Eri3 A T 4: 117,530,991 (GRCm39) I329F probably damaging Het
Flii T A 11: 60,608,094 (GRCm39) I786F probably damaging Het
Fmo1 A T 1: 162,657,551 (GRCm39) I530N probably benign Het
Gm28042 T C 2: 119,871,929 (GRCm39) S960P probably benign Het
Gzmm C A 10: 79,530,907 (GRCm39) F236L probably benign Het
Igkv4-55 A G 6: 69,584,489 (GRCm39) V41A probably damaging Het
Ipo9 A G 1: 135,313,170 (GRCm39) Y1020H probably benign Het
Masp1 T C 16: 23,276,858 (GRCm39) Y549C probably damaging Het
Mblac1 A T 5: 138,192,840 (GRCm39) S61C probably damaging Het
Mical1 T A 10: 41,359,427 (GRCm39) probably null Het
Mroh9 C T 1: 162,908,156 (GRCm39) probably benign Het
Mta2 T C 19: 8,919,720 (GRCm39) M1T probably null Het
Neb A G 2: 52,113,060 (GRCm39) Y4245H probably damaging Het
Or11j4 T C 14: 50,630,677 (GRCm39) F155L probably damaging Het
Or4c52 T C 2: 89,845,706 (GRCm39) V144A probably benign Het
Otulinl T C 15: 27,658,175 (GRCm39) M282V possibly damaging Het
Pak2 G T 16: 31,853,764 (GRCm39) probably null Het
Phc3 A T 3: 30,961,616 (GRCm39) F939I probably damaging Het
Prss3l T C 6: 41,422,307 (GRCm39) N33D probably benign Het
Rogdi C A 16: 4,831,225 (GRCm39) R14L probably benign Het
Ryr3 T C 2: 112,664,470 (GRCm39) Y1627C probably damaging Het
Scrn3 A T 2: 73,166,154 (GRCm39) K396* probably null Het
Sh3pxd2a T C 19: 47,256,670 (GRCm39) N683D probably benign Het
Smtnl1 T A 2: 84,645,785 (GRCm39) H362L probably damaging Het
Sned1 A G 1: 93,210,479 (GRCm39) S927G probably benign Het
Tcaf1 A G 6: 42,655,923 (GRCm39) V351A probably damaging Het
Tmem232 C T 17: 65,709,993 (GRCm39) V432M possibly damaging Het
Ttll11 G T 2: 35,792,801 (GRCm39) H347Q probably damaging Het
Vmn2r56 A C 7: 12,449,799 (GRCm39) D146E probably damaging Het
Wwp1 A G 4: 19,638,773 (GRCm39) probably null Het
Zcchc7 T A 4: 44,762,245 (GRCm39) N124K probably benign Het
Zfp667 A G 7: 6,308,252 (GRCm39) T307A possibly damaging Het
Zfp709 T A 8: 72,643,596 (GRCm39) C342S probably damaging Het
Zfp940 A G 7: 29,544,266 (GRCm39) V547A probably benign Het
Other mutations in H2bl1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01375:H2bl1 APN 13 99,120,650 (GRCm39) utr 3 prime probably benign
IGL02148:H2bl1 APN 13 99,120,691 (GRCm39) missense probably damaging 1.00
IGL02164:H2bl1 APN 13 99,120,715 (GRCm39) missense probably damaging 0.97
R0727:H2bl1 UTSW 13 99,120,735 (GRCm39) missense probably benign 0.38
R1257:H2bl1 UTSW 13 99,121,023 (GRCm39) start codon destroyed probably null 1.00
R6298:H2bl1 UTSW 13 99,120,974 (GRCm39) missense probably benign 0.00
R7695:H2bl1 UTSW 13 99,120,766 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TAGCCAGCTTCTTCGGCAAC -3'
(R):5'- TGGTAACATGACTGTGACACATC -3'

Sequencing Primer
(F):5'- TTCTTCGGCAACAGCAGATG -3'
(R):5'- TGACACATCACTATAAGTAGGACAG -3'
Posted On 2016-08-04