Incidental Mutation 'R5075:Tmt1b'
ID 386932
Institutional Source Beutler Lab
Gene Symbol Tmt1b
Ensembl Gene ENSMUSG00000025347
Gene Name thiol methyltransferase 1B
Synonyms Mettl7b, 0610006F02Rik
MMRRC Submission 042664-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5075 (G1)
Quality Score 225
Status Validated
Chromosome 10
Chromosomal Location 128794146-128796857 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 128796549 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 87 (F87L)
Ref Sequence ENSEMBL: ENSMUSP00000026398 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026398] [ENSMUST00000099112] [ENSMUST00000218290]
AlphaFold Q9DD20
Predicted Effect probably damaging
Transcript: ENSMUST00000026398
AA Change: F87L

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000026398
Gene: ENSMUSG00000025347
AA Change: F87L

DomainStartEndE-ValueType
signal peptide 1 23 N/A INTRINSIC
Pfam:Ubie_methyltran 40 193 2.8e-9 PFAM
Pfam:Methyltransf_23 43 222 5.5e-20 PFAM
Pfam:Methyltransf_31 68 225 1.6e-15 PFAM
Pfam:Methyltransf_18 71 175 4.6e-10 PFAM
Pfam:Methyltransf_25 74 168 2.3e-10 PFAM
Pfam:Methyltransf_12 75 170 8.8e-16 PFAM
Pfam:Methyltransf_11 75 172 1.9e-22 PFAM
Pfam:Methyltransf_8 120 192 3.8e-8 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000099112
SMART Domains Protein: ENSMUSP00000096712
Gene: ENSMUSG00000025348

DomainStartEndE-ValueType
Int_alpha 48 110 4.11e-6 SMART
Int_alpha 259 312 3.72e-4 SMART
Int_alpha 316 372 1.16e-14 SMART
Int_alpha 377 430 9.21e-18 SMART
Int_alpha 435 490 4.38e-1 SMART
low complexity region 510 523 N/A INTRINSIC
SCOP:d1m1xa3 807 1039 6e-50 SMART
low complexity region 1041 1058 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000218290
Predicted Effect probably benign
Transcript: ENSMUST00000219427
Meta Mutation Damage Score 0.1356 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.7%
  • 20x: 93.3%
Validation Efficiency 100% (57/57)
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Agl A G 3: 116,587,456 (GRCm39) F33S probably damaging Het
Atf7ip A G 6: 136,537,232 (GRCm39) D163G probably benign Het
Cep85 C A 4: 133,859,678 (GRCm39) D662Y probably damaging Het
Cntn6 T A 6: 104,809,991 (GRCm39) S558T probably damaging Het
Dnah8 T C 17: 30,958,731 (GRCm39) probably null Het
Dnah8 T A 17: 31,019,505 (GRCm39) N3859K probably damaging Het
Dnah8 G A 17: 30,967,542 (GRCm39) D2585N probably benign Het
Dnajc21 G T 15: 10,461,963 (GRCm39) T146K probably benign Het
Ep400 T C 5: 110,833,351 (GRCm39) E1957G unknown Het
Esm1 A G 13: 113,349,892 (GRCm39) Y104C probably damaging Het
Fkbp15 T C 4: 62,239,266 (GRCm39) K613R probably damaging Het
Gm10722 A C 9: 3,001,041 (GRCm39) Y39S probably benign Het
Gm5592 A G 7: 40,808,387 (GRCm39) probably benign Het
Hdac4 A G 1: 91,923,842 (GRCm39) S223P probably benign Het
Hypk A G 2: 121,286,111 (GRCm39) probably benign Het
Kpna1 T A 16: 35,829,722 (GRCm39) F70I probably damaging Het
Lrp2 A G 2: 69,296,102 (GRCm39) Y3336H probably benign Het
Mier1 A G 4: 102,996,670 (GRCm39) D99G probably benign Het
Muc4 T C 16: 32,754,794 (GRCm38) probably benign Het
Nup160 A G 2: 90,530,518 (GRCm39) E463G probably damaging Het
Or5b121 T A 19: 13,507,637 (GRCm39) M244K probably benign Het
Peg3 A T 7: 6,711,419 (GRCm39) C1268S probably damaging Het
Recql4 G A 15: 76,593,744 (GRCm39) P122L probably damaging Het
Rex2 A T 4: 147,142,151 (GRCm39) Q213L possibly damaging Het
Rnf25 A G 1: 74,634,803 (GRCm39) V73A probably benign Het
Sacm1l A G 9: 123,411,327 (GRCm39) D372G probably benign Het
Selplg T C 5: 113,958,045 (GRCm39) D87G probably benign Het
Sgsh G A 11: 119,237,594 (GRCm39) T340M probably benign Het
Slc4a3 A T 1: 75,534,012 (GRCm39) I1120F probably damaging Het
Snrnp40 T C 4: 130,282,375 (GRCm39) Y311H probably benign Het
Spata31e2 T C 1: 26,722,133 (GRCm39) K1016E probably damaging Het
Stard7 A T 2: 127,111,879 (GRCm39) probably benign Het
Stat1 A T 1: 52,161,871 (GRCm39) K40M possibly damaging Het
Sun1 T C 5: 139,212,646 (GRCm39) probably null Het
Tet2 T A 3: 133,192,667 (GRCm39) Q589L probably benign Het
Tmc7 A T 7: 118,151,919 (GRCm39) probably null Het
Unc79 A T 12: 103,041,213 (GRCm39) I749F possibly damaging Het
Ust A G 10: 8,393,988 (GRCm39) F59S probably damaging Het
Wdr81 A T 11: 75,343,307 (GRCm39) D653E probably benign Het
Zfat A G 15: 68,052,079 (GRCm39) S572P probably benign Het
Zmynd15 G C 11: 70,352,946 (GRCm39) E143D probably damaging Het
Zzef1 A G 11: 72,749,170 (GRCm39) E886G probably damaging Het
Other mutations in Tmt1b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01705:Tmt1b APN 10 128,794,731 (GRCm39) missense probably benign 0.00
IGL02157:Tmt1b APN 10 128,796,486 (GRCm39) missense possibly damaging 0.82
R1392:Tmt1b UTSW 10 128,796,567 (GRCm39) missense possibly damaging 0.90
R1392:Tmt1b UTSW 10 128,796,567 (GRCm39) missense possibly damaging 0.90
R2210:Tmt1b UTSW 10 128,794,591 (GRCm39) missense probably damaging 1.00
R4684:Tmt1b UTSW 10 128,796,571 (GRCm39) nonsense probably null
R8686:Tmt1b UTSW 10 128,796,476 (GRCm39) missense possibly damaging 0.96
R9327:Tmt1b UTSW 10 128,794,607 (GRCm39) missense probably benign 0.30
Z1176:Tmt1b UTSW 10 128,794,617 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- ACTCTCTGGACTTCCTGCAG -3'
(R):5'- GCAGCCTATATGCAAAACCTACTTC -3'

Sequencing Primer
(F):5'- GGGCTCTGCACAGAACATAGC -3'
(R):5'- AAAACCTACTTCCCTTACTTCATGG -3'
Posted On 2016-06-06