Incidental Mutation 'R4260:Tmt1a'
ID 322629
Institutional Source Beutler Lab
Gene Symbol Tmt1a
Ensembl Gene ENSMUSG00000054619
Gene Name thiol methyltransferase 1A1
Synonyms 2210414H16Rik, Mettl7a, 3300001H21Rik, Mettl7a1
MMRRC Submission 041073-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.175) question?
Stock # R4260 (G1)
Quality Score 225
Status Validated
Chromosome 15
Chromosomal Location 100202021-100226543 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 100210951 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 141 (D141G)
Ref Sequence ENSEMBL: ENSMUSP00000155295 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000067752] [ENSMUST00000229217] [ENSMUST00000229574] [ENSMUST00000229588] [ENSMUST00000230018] [ENSMUST00000230472] [ENSMUST00000231166]
AlphaFold Q8C6B0
Predicted Effect probably benign
Transcript: ENSMUST00000067752
AA Change: D192G

PolyPhen 2 Score 0.041 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000065271
Gene: ENSMUSG00000054619
AA Change: D192G

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: D141G

PolyPhen 2 Score 0.115 (Sensitivity: 0.93; Specificity: 0.86)
Predicted Effect probably benign
Transcript: ENSMUST00000229574
Predicted Effect probably benign
Transcript: ENSMUST00000229588
Predicted Effect probably benign
Transcript: ENSMUST00000230018
Predicted Effect probably benign
Transcript: ENSMUST00000230472
AA Change: D174G

PolyPhen 2 Score 0.042 (Sensitivity: 0.94; Specificity: 0.83)
Predicted Effect probably benign
Transcript: ENSMUST00000231166
Meta Mutation Damage Score 0.2687 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.7%
Validation Efficiency 98% (50/51)
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adnp2 G A 18: 80,180,742 (GRCm39) S52L possibly damaging Het
Best3 A T 10: 116,860,131 (GRCm39) M464L probably benign Het
Ccdc83 T G 7: 89,877,599 (GRCm39) D281A possibly damaging Het
Ccnf G A 17: 24,445,741 (GRCm39) P502S probably damaging Het
Cd109 T A 9: 78,543,745 (GRCm39) S96R possibly damaging Het
Cep290 A C 10: 100,350,354 (GRCm39) E649D probably damaging Het
Cntnap5a G T 1: 116,374,325 (GRCm39) A946S probably benign Het
Csnk2a2 A T 8: 96,184,027 (GRCm39) D177E probably benign Het
Cyld T C 8: 89,468,019 (GRCm39) S551P probably damaging Het
Degs1 A T 1: 182,106,806 (GRCm39) I151N probably benign Het
Dnah12 A G 14: 26,520,883 (GRCm39) I1901V probably benign Het
Eif2ak3 G A 6: 70,866,497 (GRCm39) R597H probably damaging Het
Epg5 A T 18: 78,002,336 (GRCm39) H585L possibly damaging Het
Epg5 G C 18: 78,058,914 (GRCm39) W1889C probably damaging Het
Fam220a G C 5: 143,548,762 (GRCm39) R58P possibly damaging Het
Gemin5 G A 11: 58,059,185 (GRCm39) A32V probably damaging Het
Gm11189 A C 11: 53,091,703 (GRCm39) noncoding transcript Het
Grb2 A G 11: 115,540,642 (GRCm39) I85T probably damaging Het
Herc1 CTGAGGACTCTTTG CTG 9: 66,355,630 (GRCm39) probably null Het
Ide A C 19: 37,306,585 (GRCm39) S63A unknown Het
Kel A T 6: 41,663,357 (GRCm39) probably benign Het
Kifap3 C A 1: 163,689,597 (GRCm39) T527K probably damaging Het
Klra10 A G 6: 130,249,644 (GRCm39) W214R probably damaging Het
Luc7l3 A T 11: 94,186,876 (GRCm39) probably benign Het
Mrpl4 A G 9: 20,918,988 (GRCm39) E211G possibly damaging Het
Or4k39 T A 2: 111,238,850 (GRCm39) noncoding transcript Het
Or52n5 A C 7: 104,587,803 (GRCm39) E23D probably damaging Het
Pbld2 T C 10: 62,860,186 (GRCm39) probably benign Het
Plcg1 T C 2: 160,593,627 (GRCm39) probably null Het
Ppcs A G 4: 119,279,106 (GRCm39) F149L probably damaging Het
Ptpdc1 A G 13: 48,733,234 (GRCm39) M802T probably benign Het
Ptprf A G 4: 118,083,280 (GRCm39) F909S possibly damaging Het
Raph1 A T 1: 60,542,124 (GRCm39) M330K possibly damaging Het
Rprd1a G A 18: 24,621,352 (GRCm39) R276C possibly damaging Het
Scg3 A G 9: 75,558,979 (GRCm39) Y406H probably damaging Het
Setdb1 G A 3: 95,234,808 (GRCm39) S965F probably damaging Het
Sgo2b A T 8: 64,381,330 (GRCm39) F501I probably benign Het
Slc38a4 A G 15: 96,896,374 (GRCm39) Y498H probably damaging Het
Slc5a4b A G 10: 75,939,686 (GRCm39) L150P probably damaging Het
Spata17 T A 1: 186,780,677 (GRCm39) T357S possibly damaging Het
Zap70 T A 1: 36,818,189 (GRCm39) probably benign Het
Zfp985 G A 4: 147,668,029 (GRCm39) C299Y probably damaging Het
Other mutations in Tmt1a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02820:Tmt1a APN 15 100,202,933 (GRCm39) nonsense probably null
R0943:Tmt1a UTSW 15 100,202,839 (GRCm39) missense probably benign 0.19
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
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'- TCTCAAAGTCAGCCTCCAGC -3'
(R):5'- TCTAAAACGGAAGCCTGGAAC -3'

Sequencing Primer
(F):5'- CCACTGGAATTTGAAACTTGAGGC -3'
(R):5'- AAGCCTGGAACCAGCTCG -3'
Posted On 2015-06-20