Incidental Mutation 'R6958:Bhmt1b'
ID 541619
Institutional Source Beutler Lab
Gene Symbol Bhmt1b
Ensembl Gene ENSMUSG00000069324
Gene Name betaine--homocysteine S-methyltransferase 1B
Synonyms Gm5096
MMRRC Submission 045009-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.149) question?
Stock # R6958 (G1)
Quality Score 225.009
Status Not validated
Chromosome 18
Chromosomal Location 87774410-87776275 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 87775046 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Lysine at position 190 (E190K)
Ref Sequence ENSEMBL: ENSMUSP00000135956 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000091776]
AlphaFold O35490
Predicted Effect probably benign
Transcript: ENSMUST00000091776
AA Change: E190K

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000135956
Gene: ENSMUSG00000069324
AA Change: E190K

DomainStartEndE-ValueType
Pfam:S-methyl_trans 23 314 5e-50 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.2%
  • 20x: 96.9%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2410004B18Rik A G 3: 145,649,558 (GRCm39) D159G probably benign Het
Ahnak A G 19: 8,992,579 (GRCm39) N4621S possibly damaging Het
Ankrd16 C T 2: 11,784,604 (GRCm39) A144V probably damaging Het
Ccdc14 T C 16: 34,511,176 (GRCm39) V2A probably damaging Het
Ccdc187 C T 2: 26,179,731 (GRCm39) V243I probably benign Het
Cdk12 A T 11: 98,132,525 (GRCm39) I985F unknown Het
Cfap65 T C 1: 74,971,058 (GRCm39) T87A possibly damaging Het
Cilp2 G A 8: 70,335,190 (GRCm39) P603S probably benign Het
Cntnap5b A G 1: 100,202,197 (GRCm39) E348G probably benign Het
Cpa6 C T 1: 10,665,913 (GRCm39) V42M probably damaging Het
Cpsf4 A G 5: 145,112,402 (GRCm39) I115V probably benign Het
Dnah11 G T 12: 117,897,544 (GRCm39) P3562Q probably damaging Het
Dnah9 A G 11: 65,967,167 (GRCm39) F1664L probably damaging Het
Dpysl3 T C 18: 43,571,067 (GRCm39) Q69R probably benign Het
Ebf3 T C 7: 136,800,994 (GRCm39) T455A possibly damaging Het
Eif2ak3 T A 6: 70,869,667 (GRCm39) C785S probably benign Het
Elk4 T A 1: 131,945,570 (GRCm39) F149L probably damaging Het
Fgf14 A G 14: 124,914,009 (GRCm39) W41R probably benign Het
Fmnl1 T A 11: 103,062,140 (GRCm39) M1K probably null Het
Foxk2 A T 11: 121,190,563 (GRCm39) Q568L probably benign Het
Fryl T G 5: 73,231,272 (GRCm39) I1602L possibly damaging Het
Gfm2 A G 13: 97,282,744 (GRCm39) I75V probably damaging Het
Gm3233 T A 10: 77,595,369 (GRCm39) probably benign Het
Gnb1 G T 4: 155,627,651 (GRCm39) probably null Het
Gphn G T 12: 78,727,073 (GRCm39) V662L possibly damaging Het
Il3 A C 11: 54,157,937 (GRCm39) V47G probably benign Het
Iqgap3 A G 3: 88,020,673 (GRCm39) D401G possibly damaging Het
Kdm3b T A 18: 34,941,336 (GRCm39) S276T probably benign Het
Krtap6-2 A G 16: 89,216,698 (GRCm39) S90P unknown Het
Lars1 C T 18: 42,369,704 (GRCm39) V394I probably damaging Het
Lrit1 G C 14: 36,782,052 (GRCm39) V242L probably damaging Het
Lrp10 A G 14: 54,707,278 (GRCm39) probably benign Het
Ltn1 A T 16: 87,194,679 (GRCm39) C1407S probably benign Het
Lzts2 G T 19: 45,012,582 (GRCm39) probably benign Het
Msantd2 A G 9: 37,434,753 (GRCm39) E331G probably damaging Het
Myo15a G A 11: 60,394,451 (GRCm39) G1218S probably benign Het
Myom2 G A 8: 15,167,741 (GRCm39) A1109T probably null Het
Nhp2 A G 11: 51,513,934 (GRCm39) T118A probably benign Het
Nup155 A G 15: 8,176,638 (GRCm39) Y972C probably damaging Het
Nxpe2 A T 9: 48,237,566 (GRCm39) C230S probably damaging Het
Or12d13 T C 17: 37,647,308 (GRCm39) I272V probably benign Het
Or51g2 A G 7: 102,623,091 (GRCm39) L36P possibly damaging Het
Or5w8 T C 2: 87,688,295 (GRCm39) Y259H probably damaging Het
Pfkfb4 A T 9: 108,839,615 (GRCm39) N244I probably damaging Het
Pi4ka C T 16: 17,143,091 (GRCm39) R24Q probably damaging Het
Pkd2l2 C A 18: 34,542,543 (GRCm39) Y8* probably null Het
Pramel20 A T 4: 143,297,829 (GRCm39) D83V probably damaging Het
Ptprb T A 10: 116,113,153 (GRCm39) N44K probably benign Het
Sds G A 5: 120,619,537 (GRCm39) V149M probably damaging Het
Slc22a30 A G 19: 8,364,065 (GRCm39) F204L probably damaging Het
Slc26a7 C T 4: 14,506,442 (GRCm39) A636T probably benign Het
Slc27a1 C T 8: 72,038,083 (GRCm39) A577V possibly damaging Het
Spata13 A T 14: 60,989,300 (GRCm39) T319S possibly damaging Het
Styxl2 T A 1: 165,935,565 (GRCm39) D211V probably damaging Het
Tdrd3 A G 14: 87,694,532 (GRCm39) D29G probably damaging Het
Tex15 A T 8: 34,060,899 (GRCm39) I110L probably benign Het
Treml2 A G 17: 48,615,180 (GRCm39) T222A probably damaging Het
Trpd52l3 A T 19: 29,981,546 (GRCm39) L100F probably damaging Het
Ttf2 C T 3: 100,853,248 (GRCm39) E975K probably benign Het
Vmn1r193 T A 13: 22,404,144 (GRCm39) probably benign Het
Xpo1 A G 11: 23,235,855 (GRCm39) T648A probably benign Het
Zfp641 C T 15: 98,190,832 (GRCm39) V71I possibly damaging 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
R6568:Bhmt1b UTSW 18 87,775,566 (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'- GCCTTCATACCTTAGCTGCAAG -3'
(R):5'- GTTTGCCACAGTCAGGGGTATG -3'

Sequencing Primer
(F):5'- CTTCATACCTTAGCTGCAAGAGTGAG -3'
(R):5'- CAGTCAGGGGTATGGTAGGCC -3'
Posted On 2018-11-28