Incidental Mutation 'R6568:Bhmt1b'
ID 526177
Institutional Source Beutler Lab
Gene Symbol Bhmt1b
Ensembl Gene ENSMUSG00000069324
Gene Name betaine--homocysteine S-methyltransferase 1B
Synonyms Gm5096
MMRRC Submission 044692-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.149) question?
Stock # R6568 (G1)
Quality Score 225.009
Status Not validated
Chromosome 18
Chromosomal Location 87774410-87776275 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 87775566 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Phenylalanine at position 363 (Y363F)
Ref Sequence ENSEMBL: ENSMUSP00000135956 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000091776]
AlphaFold O35490
Predicted Effect probably benign
Transcript: ENSMUST00000091776
AA Change: Y363F

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000135956
Gene: ENSMUSG00000069324
AA Change: Y363F

DomainStartEndE-ValueType
Pfam:S-methyl_trans 23 314 5e-50 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.4%
  • 20x: 97.9%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 24 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310009B15Rik T C 1: 138,779,872 (GRCm39) K127E possibly damaging Het
Ash1l G A 3: 88,959,344 (GRCm39) M2240I probably benign Het
Ccr5 G A 9: 123,925,236 (GRCm39) A280T probably damaging Het
Ceacam5 C T 7: 17,479,416 (GRCm39) L178F probably damaging Het
Col2a1 T C 15: 97,875,157 (GRCm39) N1259S unknown Het
Doc2b A C 11: 75,667,820 (GRCm39) probably null Het
Fryl T C 5: 73,216,859 (GRCm39) N2144D probably damaging Het
Hdac1-ps A G 17: 78,800,017 (GRCm39) Y336C probably damaging Het
Ighv1-34 A T 12: 114,815,231 (GRCm39) W5R probably benign Het
Kdr A G 5: 76,122,434 (GRCm39) V497A probably benign Het
Miip T A 4: 147,950,372 (GRCm39) M75L probably benign Het
Mplkip T C 13: 17,870,262 (GRCm39) S65P probably damaging Het
Ms4a13 A G 19: 11,168,923 (GRCm39) L34P probably damaging Het
Myo1c C T 11: 75,562,461 (GRCm39) P918S probably benign Het
Nek1 T C 8: 61,559,855 (GRCm39) S896P probably benign Het
Or5ac17 A T 16: 59,036,641 (GRCm39) C112S probably benign Het
Polr3b T A 10: 84,470,767 (GRCm39) M136K probably damaging Het
Rgsl1 A C 1: 153,697,292 (GRCm39) W508G possibly damaging Het
Ros1 A T 10: 52,038,908 (GRCm39) M354K probably damaging Het
Slc34a2 T C 5: 53,226,476 (GRCm39) L533P probably damaging Het
Taf2 G A 15: 54,928,026 (GRCm39) L126F probably damaging Het
Tlr12 T C 4: 128,511,785 (GRCm39) D155G probably benign Het
Trpm2 C T 10: 77,773,660 (GRCm39) R585Q probably benign Het
Zfp942 T G 17: 22,148,043 (GRCm39) K195N probably benign Het
Other mutations in Bhmt1b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02396:Bhmt1b APN 18 87,774,780 (GRCm39) missense possibly damaging 0.58
IGL02510:Bhmt1b APN 18 87,775,653 (GRCm39) missense probably benign 0.17
R1222:Bhmt1b UTSW 18 87,775,458 (GRCm39) missense probably damaging 1.00
R1418:Bhmt1b UTSW 18 87,775,458 (GRCm39) missense probably damaging 1.00
R1465:Bhmt1b UTSW 18 87,775,382 (GRCm39) missense probably damaging 1.00
R1465:Bhmt1b UTSW 18 87,775,382 (GRCm39) missense probably damaging 1.00
R1883:Bhmt1b UTSW 18 87,774,669 (GRCm39) missense probably damaging 1.00
R4631:Bhmt1b UTSW 18 87,774,525 (GRCm39) missense probably damaging 0.98
R4799:Bhmt1b UTSW 18 87,774,573 (GRCm39) missense probably damaging 1.00
R5569:Bhmt1b UTSW 18 87,775,392 (GRCm39) missense probably damaging 1.00
R6011:Bhmt1b UTSW 18 87,774,663 (GRCm39) missense probably damaging 1.00
R6156:Bhmt1b UTSW 18 87,775,231 (GRCm39) nonsense probably null
R6160:Bhmt1b UTSW 18 87,775,245 (GRCm39) missense probably damaging 1.00
R6209:Bhmt1b UTSW 18 87,775,341 (GRCm39) missense probably damaging 1.00
R6958:Bhmt1b UTSW 18 87,775,046 (GRCm39) missense probably benign
R7226:Bhmt1b UTSW 18 87,775,590 (GRCm39) missense possibly damaging 0.93
R8403:Bhmt1b UTSW 18 87,775,575 (GRCm39) missense probably damaging 0.99
R8416:Bhmt1b UTSW 18 87,774,687 (GRCm39) missense probably damaging 0.99
R9353:Bhmt1b UTSW 18 87,774,954 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TACCACATCAGGGCGATTGC -3'
(R):5'- GTAGGCTGGTATTAACACAAACAC -3'

Sequencing Primer
(F):5'- ATTGCAGAGGAGTTGGCCC -3'
(R):5'- TTCCGGGCACACATTGAG -3'
Posted On 2018-06-22