Incidental Mutation 'R0943:Tmt1a'
ID 81983
Institutional Source Beutler Lab
Gene Symbol Tmt1a
Ensembl Gene ENSMUSG00000054619
Gene Name thiol methyltransferase 1A1
Synonyms 2210414H16Rik, Mettl7a, 3300001H21Rik, Mettl7a1
MMRRC Submission 039082-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.175) question?
Stock # R0943 (G1)
Quality Score 225
Status Validated
Chromosome 15
Chromosomal Location 100202021-100226543 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 100202839 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 20 (Y20H)
Ref Sequence ENSEMBL: ENSMUSP00000155295 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000067752] [ENSMUST00000229217] [ENSMUST00000229574] [ENSMUST00000229588] [ENSMUST00000230018] [ENSMUST00000230252] [ENSMUST00000230472] [ENSMUST00000231166]
AlphaFold Q8C6B0
Predicted Effect probably benign
Transcript: ENSMUST00000067752
AA Change: Y38H

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000065271
Gene: ENSMUSG00000054619
AA Change: Y38H

DomainStartEndE-ValueType
Pfam:Ubie_methyltran 31 195 7.7e-12 PFAM
Pfam:Methyltransf_23 47 221 7e-20 PFAM
Pfam:Methyltransf_31 68 223 1.5e-15 PFAM
Pfam:Methyltransf_18 71 176 1e-9 PFAM
Pfam:Methyltransf_25 74 168 4e-12 PFAM
Pfam:Methyltransf_12 75 170 8.6e-16 PFAM
Pfam:Methyltransf_11 75 172 6.6e-23 PFAM
Pfam:Methyltransf_8 117 197 1.1e-8 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000229217
AA Change: Y20H

PolyPhen 2 Score 0.191 (Sensitivity: 0.92; Specificity: 0.87)
Predicted Effect probably benign
Transcript: ENSMUST00000229574
Predicted Effect probably benign
Transcript: ENSMUST00000229588
AA Change: Y38H

PolyPhen 2 Score 0.126 (Sensitivity: 0.93; Specificity: 0.86)
Predicted Effect probably benign
Transcript: ENSMUST00000230018
Predicted Effect probably benign
Transcript: ENSMUST00000230252
Predicted Effect probably benign
Transcript: ENSMUST00000230472
AA Change: Y20H

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
Predicted Effect probably benign
Transcript: ENSMUST00000231166
Meta Mutation Damage Score 0.1519 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.8%
  • 10x: 97.3%
  • 20x: 94.5%
Validation Efficiency 97% (36/37)
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Agtpbp1 T C 13: 59,648,416 (GRCm39) N468S probably benign Het
Card6 A G 15: 5,129,768 (GRCm39) S543P probably damaging Het
Celsr1 T G 15: 85,787,489 (GRCm39) T2750P probably damaging Het
Csmd3 A G 15: 47,539,135 (GRCm39) M2341T probably damaging Het
Dym A G 18: 75,419,840 (GRCm39) *670W probably null Het
Ehbp1 T C 11: 22,045,883 (GRCm39) D597G probably benign Het
Emx1 G A 6: 85,180,901 (GRCm39) W206* probably null Het
Esr1 A G 10: 4,696,781 (GRCm39) K210R probably damaging Het
Extl1 TGCGTTGCACCGATACCGGG TG 4: 134,084,988 (GRCm39) probably benign Het
Fads2b C T 2: 85,319,109 (GRCm39) D398N probably damaging Het
Fam72a T C 1: 131,456,517 (GRCm39) S27P possibly damaging Het
Fanca A T 8: 124,000,925 (GRCm39) C1152S probably damaging Het
Fras1 G A 5: 96,874,402 (GRCm39) V2276I probably benign Het
Hoxb13 A G 11: 96,086,799 (GRCm39) E202G probably benign Het
Lcmt1 T G 7: 123,000,662 (GRCm39) probably null Het
Nars2 C T 7: 96,605,138 (GRCm39) probably benign Het
Neil3 ATATTTATTTATTTATTTATTTATTTATTTATT ATATTTATTTATTTATTTATTTATTTATTTATTTATT 8: 54,062,404 (GRCm39) probably benign Het
Nup153 T C 13: 46,850,248 (GRCm39) probably benign Het
Or4c10b T C 2: 89,711,305 (GRCm39) V45A probably benign Het
Or5b112 C A 19: 13,319,157 (GRCm39) H12N probably benign Het
Prkar2a T C 9: 108,610,475 (GRCm39) probably benign Het
Ptprc T C 1: 138,038,902 (GRCm39) T209A probably damaging Het
Rif1 GCCACCA GCCA 2: 52,000,336 (GRCm39) probably benign Het
Rnf26rt T C 6: 76,473,398 (GRCm39) H406R probably benign Het
Rprd2 C T 3: 95,691,559 (GRCm39) V239I possibly damaging Het
Sgo2b A G 8: 64,384,369 (GRCm39) F209S possibly damaging Het
Shfl A T 9: 20,784,258 (GRCm39) H160L possibly damaging Het
Spry2 T C 14: 106,131,021 (GRCm39) Y55C probably damaging Het
Tbc1d32 A T 10: 56,037,243 (GRCm39) V667E probably benign Het
Tbrg4 A G 11: 6,569,008 (GRCm39) F388L probably damaging Het
Tshz1 T C 18: 84,033,356 (GRCm39) T351A probably benign Het
Usp48 A G 4: 137,371,781 (GRCm39) N969S possibly damaging Het
Vmn2r108 A T 17: 20,691,397 (GRCm39) C375* probably null Het
Vps45 T A 3: 95,964,336 (GRCm39) I62F probably benign Het
Xab2 A G 8: 3,663,667 (GRCm39) F388L probably benign Het
Zfp735 A G 11: 73,602,909 (GRCm39) T618A probably benign Het
Zswim2 T A 2: 83,748,342 (GRCm39) R279S possibly damaging Het
Other mutations in Tmt1a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02820:Tmt1a APN 15 100,202,933 (GRCm39) nonsense probably null
R2258:Tmt1a UTSW 15 100,211,049 (GRCm39) missense probably benign 0.43
R2259:Tmt1a UTSW 15 100,211,049 (GRCm39) missense probably benign 0.43
R4260:Tmt1a UTSW 15 100,210,951 (GRCm39) missense probably benign 0.12
R4625:Tmt1a UTSW 15 100,210,939 (GRCm39) missense probably damaging 1.00
R4932:Tmt1a UTSW 15 100,202,987 (GRCm39) missense probably benign 0.26
R7802:Tmt1a UTSW 15 100,203,182 (GRCm39) missense possibly damaging 0.80
R7839:Tmt1a UTSW 15 100,202,957 (GRCm39) missense possibly damaging 0.65
R9294:Tmt1a UTSW 15 100,211,014 (GRCm39) missense probably damaging 1.00
R9502:Tmt1a UTSW 15 100,203,215 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AGGCTGCAACCTTCCAAAGGGATG -3'
(R):5'- GGGATAGAACTTGAAGTTGGCTCCG -3'

Sequencing Primer
(F):5'- TTTGGTTcccccccccc -3'
(R):5'- TGCAGATTGCTGAAGAGCTC -3'
Posted On 2013-11-08