Incidental Mutation 'R1257:H2bl1'
ID 151506
Institutional Source Beutler Lab
Gene Symbol H2bl1
Ensembl Gene ENSMUSG00000045022
Gene Name H2B.L histone variant 1
Synonyms SubH2Bv, 1700024P04Rik
MMRRC Submission 039324-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1257 (G1)
Quality Score 225
Status Not validated
Chromosome 13
Chromosomal Location 99120598-99121073 bp(-) (GRCm39)
Type of Mutation start codon destroyed
DNA Base Change (assembly) A to T at 99121023 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 1 (M1K)
Ref Sequence ENSEMBL: ENSMUSP00000053046 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000054425]
AlphaFold Q9D9Z7
Predicted Effect probably null
Transcript: ENSMUST00000054425
AA Change: M1K

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000053046
Gene: ENSMUSG00000045022
AA Change: M1K

DomainStartEndE-ValueType
H2B 21 122 1.43e-22 SMART
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.2%
  • 10x: 95.9%
  • 20x: 91.7%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 27 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acoxl A T 2: 127,886,286 (GRCm39) T174S probably benign Het
Ank3 C T 10: 69,710,665 (GRCm39) R408* probably null Het
Ceacam15 A G 7: 16,405,949 (GRCm39) S201P possibly damaging Het
Ceacam20 A G 7: 19,708,117 (GRCm39) I241V probably benign Het
Cfap46 A T 7: 139,234,545 (GRCm39) L237* probably null Het
Col4a3 T A 1: 82,694,086 (GRCm39) C133S probably damaging Het
Dnajc9 G A 14: 20,438,765 (GRCm39) probably null Het
Dnhd1 T A 7: 105,343,360 (GRCm39) V1568D probably damaging Het
Gli3 C T 13: 15,900,581 (GRCm39) Q1323* probably null Het
Grhpr A G 4: 44,989,045 (GRCm39) N287S probably damaging Het
Hectd4 G A 5: 121,456,687 (GRCm39) W684* probably null Het
Kifc3 A G 8: 95,832,400 (GRCm39) V474A probably damaging Het
Lrrc37 A G 11: 103,425,467 (GRCm39) V1462A unknown Het
Mdn1 A T 4: 32,667,089 (GRCm39) probably null Het
Med7 C G 11: 46,331,460 (GRCm39) I18M probably damaging Het
Nid1 T C 13: 13,658,375 (GRCm39) Y707H probably benign Het
Nol4 A T 18: 22,903,738 (GRCm39) N339K probably damaging Het
Or6c209 A T 10: 129,483,413 (GRCm39) K139* probably null Het
Rbm34 C T 8: 127,697,643 (GRCm39) G23S possibly damaging Het
Rps19bp1 CCTTCTTCTTCTTCTTCTTCTT CCTTCTTCTTCTTCTTCTT 15: 80,145,250 (GRCm39) probably benign Het
Shf G A 2: 122,199,163 (GRCm39) P51S probably damaging Het
Snap25 A T 2: 136,600,268 (GRCm39) E37V probably damaging Het
Taf1a A G 1: 183,179,175 (GRCm39) T118A possibly damaging Het
Tasor2 T C 13: 3,625,049 (GRCm39) T1634A probably benign Het
Thrb T A 14: 18,008,642 (GRCm38) I122K probably damaging Het
Xkr4 T G 1: 3,287,036 (GRCm39) I385L probably benign Het
Zeb1 G T 18: 5,772,699 (GRCm39) R996L possibly damaging 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
R5340:H2bl1 UTSW 13 99,120,951 (GRCm39) missense possibly damaging 0.95
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'- TCTTCGGCAACAGCAGATGCAC -3'
(R):5'- GAGCCACTTTCTCCTCAGCAACAG -3'

Sequencing Primer
(F):5'- GCGCTTTCTGAGGAACATC -3'
(R):5'- TCCTCAGCAACAGGTCGG -3'
Posted On 2014-01-29