Incidental Mutation 'R7839:Tmt1a'
ID 606186
Institutional Source Beutler Lab
Gene Symbol Tmt1a
Ensembl Gene ENSMUSG00000054619
Gene Name thiol methyltransferase 1A1
Synonyms 2210414H16Rik, Mettl7a, 3300001H21Rik, Mettl7a1
MMRRC Submission 045893-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.175) question?
Stock # R7839 (G1)
Quality Score 225.009
Status Validated
Chromosome 15
Chromosomal Location 100202021-100226543 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 100202957 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 77 (V77A)
Ref Sequence ENSEMBL: ENSMUSP00000065271 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000067752] [ENSMUST00000229217] [ENSMUST00000229574] [ENSMUST00000229588] [ENSMUST00000230018] [ENSMUST00000230252] [ENSMUST00000230472] [ENSMUST00000231166]
AlphaFold Q8C6B0
Predicted Effect possibly damaging
Transcript: ENSMUST00000067752
AA Change: V77A

PolyPhen 2 Score 0.653 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000065271
Gene: ENSMUSG00000054619
AA Change: V77A

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 null
Transcript: ENSMUST00000229217
Predicted Effect probably null
Transcript: ENSMUST00000229574
Predicted Effect probably damaging
Transcript: ENSMUST00000229588
AA Change: V77A

PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
Predicted Effect probably benign
Transcript: ENSMUST00000230018
Predicted Effect probably null
Transcript: ENSMUST00000230252
Predicted Effect possibly damaging
Transcript: ENSMUST00000230472
AA Change: V59A

PolyPhen 2 Score 0.872 (Sensitivity: 0.83; Specificity: 0.93)
Predicted Effect silent
Transcript: ENSMUST00000231166
Meta Mutation Damage Score 0.1468 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency 100% (51/51)
Allele List at MGI
Other mutations in this stock
Total: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca9 A T 11: 110,025,085 (GRCm39) M986K probably benign Het
Adcyap1 A G 17: 93,511,413 (GRCm39) K129R probably benign Het
Anapc1 T C 2: 128,526,528 (GRCm39) D90G probably damaging Het
Ankrd17 G A 5: 90,411,213 (GRCm39) H1361Y probably damaging Het
Aqp4 T A 18: 15,532,737 (GRCm39) I119F possibly damaging Het
Bfsp1 T A 2: 143,673,770 (GRCm39) I313F possibly damaging Het
Cxcl9 A G 5: 92,475,869 (GRCm39) V5A probably benign Het
Cyfip1 G A 7: 55,536,483 (GRCm39) V304M probably damaging Het
Cyp2d22 A G 15: 82,256,772 (GRCm39) V334A probably damaging Het
Cyp2j12 A G 4: 95,987,893 (GRCm39) V499A possibly damaging Het
Cyth3 A G 5: 143,683,509 (GRCm39) E136G probably benign Het
Degs2 CTTAGTGAAT CT 12: 108,658,460 (GRCm39) probably null Het
Dnah7a A G 1: 53,606,334 (GRCm39) S1229P probably benign Het
Dop1a T A 9: 86,424,818 (GRCm39) C2087* probably null Het
Dop1b A T 16: 93,560,829 (GRCm39) H889L probably damaging Het
Elf1 A G 14: 79,773,855 (GRCm39) E22G probably benign Het
Gbgt1 T C 2: 28,393,182 (GRCm39) V90A probably damaging Het
Glis3 T C 19: 28,294,773 (GRCm39) D675G possibly damaging Het
Glt8d1 G T 14: 30,723,788 (GRCm39) probably benign Het
Gzf1 T A 2: 148,525,815 (GRCm39) Y95* probably null Het
Insig2 T C 1: 121,240,049 (GRCm39) I84V probably benign Het
Mapkapk2 A G 1: 131,025,256 (GRCm39) S3P unknown Het
Nell2 T C 15: 95,196,819 (GRCm39) N499S probably benign Het
Nlrp9b G A 7: 19,758,398 (GRCm39) R545H possibly damaging Het
Obox7 T A 7: 14,399,350 (GRCm39) I192N probably benign Het
Or10ad1 T C 15: 98,106,026 (GRCm39) I80V probably damaging Het
Or6c76b A T 10: 129,692,899 (GRCm39) I171F possibly damaging Het
Plec A T 15: 76,060,583 (GRCm39) V3118E probably damaging Het
Plk3 T C 4: 116,986,527 (GRCm39) T571A probably damaging Het
Ppa2 T C 3: 133,082,351 (GRCm39) probably null Het
Rabl6 A T 2: 25,482,829 (GRCm39) H183Q probably damaging Het
Rad51ap2 T A 12: 11,507,238 (GRCm39) S387T possibly damaging Het
Rbm33 A G 5: 28,573,397 (GRCm39) probably null Het
Robo4 T C 9: 37,322,055 (GRCm39) S724P probably damaging Het
Rtf2 T C 2: 172,308,253 (GRCm39) probably null Het
Sft2d1rt T C 11: 45,942,887 (GRCm39) T79A possibly damaging Het
Slc45a2 A T 15: 11,027,835 (GRCm39) Q468L probably benign Het
Slc6a15 A G 10: 103,240,660 (GRCm39) I428V probably benign Het
Sp140l2 C T 1: 85,224,736 (GRCm39) M266I probably benign Het
Taar7f C A 10: 23,925,967 (GRCm39) A187E possibly damaging Het
Tob1 T A 11: 94,104,598 (GRCm39) Y45N probably damaging Het
Trappc10 A G 10: 78,024,646 (GRCm39) V1161A possibly damaging Het
Trbv13-2 T C 6: 41,098,521 (GRCm39) V32A probably benign Het
Trpm8 T A 1: 88,254,176 (GRCm39) L133Q possibly damaging Het
Ttn T C 2: 76,538,512 (GRCm39) T34729A probably benign Het
Uba6 G T 5: 86,270,271 (GRCm39) probably null Het
Unc13c T C 9: 73,840,596 (GRCm39) D85G possibly damaging Het
Vmn1r176 T C 7: 23,534,394 (GRCm39) D253G possibly damaging Het
Vmn2r34 T A 7: 7,687,173 (GRCm39) I175F possibly damaging Het
Vmn2r61 T A 7: 41,916,032 (GRCm39) I215N probably damaging Het
Vwa5a C A 9: 38,634,799 (GRCm39) S202R probably damaging Het
Zfp383 G A 7: 29,614,483 (GRCm39) C246Y probably damaging Het
Zfp40 T C 17: 23,395,963 (GRCm39) D208G probably damaging Het
Zfp992 C A 4: 146,550,875 (GRCm39) L199I probably benign 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
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
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'- GCTGAACCTTCTAGGCTTGTG -3'
(R):5'- TCACGCAGAATCTTCTCCTGG -3'

Sequencing Primer
(F):5'- CTTGTGGAGCTGGGTATGCAAAAAG -3'
(R):5'- GTTCTTCACCGAGCACAGC -3'
Posted On 2019-12-20