Incidental Mutation 'R2258:Tmt1a'
ID 243577
Institutional Source Beutler Lab
Gene Symbol Tmt1a
Ensembl Gene ENSMUSG00000054619
Gene Name thiol methyltransferase 1A1
Synonyms 2210414H16Rik, Mettl7a, 3300001H21Rik, Mettl7a1
MMRRC Submission 040258-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.175) question?
Stock # R2258 (G1)
Quality Score 225
Status Not validated
Chromosome 15
Chromosomal Location 100202021-100226543 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 100211049 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 174 (I174F)
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: I225F

PolyPhen 2 Score 0.121 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000065271
Gene: ENSMUSG00000054619
AA Change: I225F

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: I174F

PolyPhen 2 Score 0.428 (Sensitivity: 0.89; Specificity: 0.90)
Predicted Effect probably benign
Transcript: ENSMUST00000229574
Predicted Effect probably benign
Transcript: ENSMUST00000229588
Predicted Effect probably benign
Transcript: ENSMUST00000230018
Predicted Effect probably benign
Transcript: ENSMUST00000230472
Predicted Effect probably benign
Transcript: ENSMUST00000231166
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 94.5%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 79 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700006A11Rik T C 3: 124,207,267 (GRCm39) N308S possibly damaging Het
Acot5 A T 12: 84,122,643 (GRCm39) H409L possibly damaging Het
Ang4 A G 14: 52,001,955 (GRCm39) probably benign Het
Ap3d1 A G 10: 80,556,966 (GRCm39) S315P probably benign Het
Arhgap15 G A 2: 44,276,359 (GRCm39) G437R probably damaging Het
Cacna2d1 T C 5: 16,562,287 (GRCm39) C810R probably damaging Het
Capn5 A G 7: 97,785,082 (GRCm39) W131R probably damaging Het
Ccnj A G 19: 40,834,277 (GRCm39) Q292R probably benign Het
Cd177 A G 7: 24,455,661 (GRCm39) V287A possibly damaging Het
Cdk5r2 T C 1: 74,895,059 (GRCm39) L268P probably damaging Het
Cfap251 C G 5: 123,421,411 (GRCm39) probably null Het
Clrn2 A G 5: 45,611,304 (GRCm39) D51G probably benign Het
Cntd1 T C 11: 101,175,682 (GRCm39) S174P probably damaging Het
Col11a2 A G 17: 34,258,651 (GRCm39) H8R probably benign Het
Col17a1 C T 19: 47,669,816 (GRCm39) probably null Het
Cyp2a5 A G 7: 26,536,528 (GRCm39) D169G possibly damaging Het
Cyp2c37 A G 19: 39,984,303 (GRCm39) I264V possibly damaging Het
Cyp2j12 A G 4: 96,021,315 (GRCm39) I97T probably damaging Het
Dipk1b T C 2: 26,525,162 (GRCm39) L157P probably damaging Het
Eif3b T C 5: 140,413,258 (GRCm39) F354L possibly damaging Het
Eif4a3l1 A T 6: 136,305,559 (GRCm39) M7L probably benign Het
Entpd2 C T 2: 25,288,099 (GRCm39) P108S probably damaging Het
F5 T A 1: 164,019,750 (GRCm39) S742T probably damaging Het
Fam187a A G 11: 102,776,124 (GRCm39) probably benign Het
Fam43b G C 4: 138,122,409 (GRCm39) R304G probably benign Het
Flnc G A 6: 29,438,665 (GRCm39) W186* probably null Het
Fndc3b G T 3: 27,494,309 (GRCm39) Q939K possibly damaging Het
Gja4 C A 4: 127,206,623 (GRCm39) D47Y probably damaging Het
Gm11565 T G 11: 99,805,844 (GRCm39) C79G possibly damaging Het
Gpbar1 T C 1: 74,318,164 (GRCm39) F136L probably benign Het
Gsn G A 2: 35,180,349 (GRCm39) G130E probably damaging Het
Hecw1 A T 13: 14,490,723 (GRCm39) D756E probably benign Het
Hrc C A 7: 44,986,105 (GRCm39) R419S possibly damaging Het
Inpp4a T A 1: 37,416,777 (GRCm39) S433T probably damaging Het
Ism2 C A 12: 87,326,848 (GRCm39) V320L possibly damaging Het
Krt8 G T 15: 101,907,257 (GRCm39) D275E probably benign Het
Lgalsl2 A G 7: 5,362,401 (GRCm39) M11V probably benign Het
Lyg2 A C 1: 37,948,077 (GRCm39) N132K probably benign Het
Lyst G A 13: 13,812,243 (GRCm39) R885Q probably benign Het
Marveld2 A G 13: 100,748,978 (GRCm39) S34P probably benign Het
Mcc C A 18: 44,608,203 (GRCm39) G355W probably damaging Het
Mllt6 T C 11: 97,555,802 (GRCm39) V44A probably damaging Het
Mrgpra3 A T 7: 47,239,842 (GRCm39) M28K probably benign Het
Ms4a15 A G 19: 10,962,159 (GRCm39) C47R probably benign Het
Muc5ac A G 7: 141,344,745 (GRCm39) N72S probably benign Het
Myo18b C T 5: 113,022,529 (GRCm39) probably benign Het
Nat8f4 A T 6: 85,878,207 (GRCm39) H105Q possibly damaging Het
Ncapd3 A G 9: 26,967,368 (GRCm39) D568G probably benign Het
Nptx1 T G 11: 119,434,142 (GRCm39) I315L probably benign Het
Nrap T C 19: 56,310,394 (GRCm39) R1534G possibly damaging Het
Nwd2 C A 5: 63,962,499 (GRCm39) N694K probably benign Het
Oas1c G A 5: 120,941,082 (GRCm39) A35V probably null Het
Or2d3b A G 7: 106,514,113 (GRCm39) K236R probably damaging Het
Or5bw2 A T 7: 6,573,022 (GRCm39) I11F probably damaging Het
Or5p58 C T 7: 107,694,402 (GRCm39) R125H possibly damaging Het
Or8d1b T C 9: 38,887,296 (GRCm39) V108A probably benign Het
Pate8 C A 9: 36,493,161 (GRCm39) V54L probably benign Het
Pde2a A T 7: 101,133,774 (GRCm39) D85V probably damaging Het
Plaat5 C T 19: 7,590,111 (GRCm39) R46C probably damaging Het
Polr1f A G 12: 33,483,587 (GRCm39) H113R probably damaging Het
Prex1 C T 2: 166,429,077 (GRCm39) V839I probably benign Het
Psmd3 T A 11: 98,581,790 (GRCm39) M305K probably benign Het
Rbm20 T C 19: 53,840,172 (GRCm39) S1054P probably benign Het
Rhox13 G C X: 37,210,221 (GRCm39) E19Q unknown Het
Ryr2 A G 13: 11,753,102 (GRCm39) F1740L possibly damaging Het
Sox1 C A 8: 12,446,927 (GRCm39) N189K possibly damaging Het
Spta1 C A 1: 174,001,907 (GRCm39) S12R possibly damaging Het
Stard13 A G 5: 150,963,196 (GRCm39) L971P probably damaging Het
Tigd4 T A 3: 84,501,600 (GRCm39) N172K probably benign Het
Ttyh1 T C 7: 4,131,183 (GRCm39) V218A probably damaging Het
Unc45b T A 11: 82,808,625 (GRCm39) M237K probably benign Het
Vldlr A G 19: 27,215,786 (GRCm39) D220G probably damaging Het
Vps13c A G 9: 67,861,142 (GRCm39) N2891S probably benign Het
Wdr25 T A 12: 108,864,100 (GRCm39) S82T possibly damaging Het
Wnk4 C A 11: 101,165,861 (GRCm39) P796Q probably damaging Het
Xpo5 C T 17: 46,551,822 (GRCm39) Q1050* probably null Het
Zc3h15 G A 2: 83,487,360 (GRCm39) V60I probably benign Het
Zfp629 G A 7: 127,210,963 (GRCm39) T282M probably damaging Het
Zscan22 T G 7: 12,637,887 (GRCm39) V93G 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
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'- TCTCAAAGTCAGCCTCCAGC -3'
(R):5'- TGGCTAAACAGAAACCTGTAGG -3'

Sequencing Primer
(F):5'- CCACTGGAATTTGAAACTTGAGGC -3'
(R):5'- GTAGGGATGAATTTGATTTTCACCC -3'
Posted On 2014-10-16