Incidental Mutation 'R9304:Trmt61a'
ID 705130
Institutional Source Beutler Lab
Gene Symbol Trmt61a
Ensembl Gene ENSMUSG00000060950
Gene Name tRNA methyltransferase 61A
Synonyms 6720458F09Rik
Accession Numbers
Essential gene? Probably essential (E-score: 0.950) question?
Stock # R9304 (G1)
Quality Score 225.009
Status Not validated
Chromosome 12
Chromosomal Location 111644539-111650336 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 111647437 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Aspartic acid at position 178 (V178D)
Ref Sequence ENSEMBL: ENSMUSP00000082011 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000084947] [ENSMUST00000168338] [ENSMUST00000221089] [ENSMUST00000222737]
AlphaFold Q80XC2
Predicted Effect possibly damaging
Transcript: ENSMUST00000084947
AA Change: V178D

PolyPhen 2 Score 0.918 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000082011
Gene: ENSMUSG00000060950
AA Change: V178D

DomainStartEndE-ValueType
Pfam:GCD14 64 287 3.2e-113 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000168338
AA Change: V178D

PolyPhen 2 Score 0.918 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000133128
Gene: ENSMUSG00000060950
AA Change: V178D

DomainStartEndE-ValueType
Pfam:GCD14 64 287 6.2e-110 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000221089
Predicted Effect probably benign
Transcript: ENSMUST00000222737
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.8%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1810062G17Rik A G 3: 36,536,072 (GRCm39) K113E unknown Het
4930486L24Rik T C 13: 61,001,352 (GRCm39) Y125C probably damaging Het
Acte1 G T 7: 143,434,902 (GRCm39) probably null Het
Adam28 A T 14: 68,874,946 (GRCm39) Y244N probably damaging Het
Ap3b2 T C 7: 81,113,019 (GRCm39) D944G unknown Het
Asb2 G A 12: 103,302,225 (GRCm39) P108S probably damaging Het
Cachd1 A G 4: 100,824,179 (GRCm39) Y540C possibly damaging Het
Ccdc40 A G 11: 119,122,597 (GRCm39) Q63R probably benign Het
Cdhr5 G A 7: 140,851,474 (GRCm39) P610L probably benign Het
Cep350 T C 1: 155,829,464 (GRCm39) K87E probably damaging Het
Csmd3 T C 15: 47,569,805 (GRCm39) D1206G Het
Diaph3 T C 14: 87,328,448 (GRCm39) E98G possibly damaging Het
Dmbt1 A T 7: 130,700,855 (GRCm39) E1185V unknown Het
Enpp2 C T 15: 54,815,969 (GRCm39) R65H probably damaging Het
Gapdh A G 6: 125,139,819 (GRCm39) V195A probably benign Het
Gm14412 T C 2: 177,007,547 (GRCm39) D116G probably benign Het
Gucy2e A T 11: 69,126,560 (GRCm39) D273E probably benign Het
Gulp1 A T 1: 44,793,593 (GRCm39) K85* probably null Het
Htra3 A G 5: 35,836,515 (GRCm39) V59A probably benign Het
Iars2 A T 1: 185,055,400 (GRCm39) Y244* probably null Het
Igf2 G A 7: 142,208,153 (GRCm39) R64C probably damaging Het
Il18r1 A G 1: 40,510,893 (GRCm39) probably benign Het
Mical2 A G 7: 111,980,974 (GRCm39) D316G probably damaging Het
Myb A G 10: 21,028,516 (GRCm39) S116P probably damaging Het
Or2ag1b A T 7: 106,288,880 (GRCm39) D19E probably benign Het
Prob1 C A 18: 35,787,708 (GRCm39) G182V probably damaging Het
Psmb9 A G 17: 34,406,222 (GRCm39) probably null Het
Pudp T A 18: 50,701,670 (GRCm39) D21V probably damaging Het
Rhobtb2 G A 14: 70,025,376 (GRCm39) H633Y probably damaging Het
Rpf2 A G 10: 40,119,850 (GRCm39) probably null Het
Sbk2 A G 7: 4,960,507 (GRCm39) I221T probably damaging Het
Slc10a1 G A 12: 81,004,957 (GRCm39) T195I probably benign Het
Spata31h1 G T 10: 82,131,930 (GRCm39) P360Q probably benign Het
Speer1k G A 5: 10,998,949 (GRCm39) R29Q Het
Stom A G 2: 35,211,697 (GRCm39) V108A possibly damaging Het
Tmem70 C T 1: 16,737,989 (GRCm39) T100M possibly damaging Het
Trdn G T 10: 33,181,087 (GRCm39) probably null Het
Trpv4 C A 5: 114,782,702 (GRCm39) E87* probably null Het
Ttc6 T C 12: 57,776,117 (GRCm39) F1687S probably damaging Het
Urb2 T C 8: 124,757,247 (GRCm39) F985L probably benign Het
Vdac3 T A 8: 23,070,568 (GRCm39) K114N probably damaging Het
Zfp260 T C 7: 29,804,279 (GRCm39) S60P possibly damaging Het
Zkscan4 T A 13: 21,665,570 (GRCm39) S182T possibly damaging Het
Other mutations in Trmt61a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01867:Trmt61a APN 12 111,645,150 (GRCm39) missense probably benign 0.00
R0538:Trmt61a UTSW 12 111,645,361 (GRCm39) missense probably damaging 1.00
R4798:Trmt61a UTSW 12 111,645,147 (GRCm39) missense possibly damaging 0.47
R5909:Trmt61a UTSW 12 111,647,292 (GRCm39) missense probably damaging 1.00
R6021:Trmt61a UTSW 12 111,647,411 (GRCm39) missense probably damaging 1.00
R7388:Trmt61a UTSW 12 111,645,321 (GRCm39) missense possibly damaging 0.79
R8955:Trmt61a UTSW 12 111,649,256 (GRCm39) missense probably benign 0.32
R9427:Trmt61a UTSW 12 111,647,490 (GRCm39) missense probably damaging 0.96
Predicted Primers PCR Primer
(F):5'- GTATCCCACGCAATCATCCG -3'
(R):5'- TGGAGAATGGGACCCATCTTC -3'

Sequencing Primer
(F):5'- CAATCATCCGCAGCGTTG -3'
(R):5'- GGAACCCTGATGTGACCATTACTG -3'
Posted On 2022-03-25