Incidental Mutation 'R7678:Trmt10c'
ID 592606
Institutional Source Beutler Lab
Gene Symbol Trmt10c
Ensembl Gene ENSMUSG00000044763
Gene Name tRNA methyltransferase 10C, mitochondrial RNase P subunit
Synonyms Rg9mtd1, 1300018J16Rik, D16Ertd454e
MMRRC Submission 045745-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.935) question?
Stock # R7678 (G1)
Quality Score 225.009
Status Validated
Chromosome 16
Chromosomal Location 55854083-55858149 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 55855302 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Valine at position 111 (D111V)
Ref Sequence ENSEMBL: ENSMUSP00000058954 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000059052]
AlphaFold Q3UFY8
Predicted Effect probably benign
Transcript: ENSMUST00000059052
AA Change: D111V

PolyPhen 2 Score 0.170 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000058954
Gene: ENSMUSG00000044763
AA Change: D111V

DomainStartEndE-ValueType
coiled coil region 133 171 N/A INTRINSIC
Pfam:tRNA_m1G_MT 207 375 2e-47 PFAM
Meta Mutation Damage Score 0.0846 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.2%
Validation Efficiency 99% (67/68)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes the precursor of a subunit of the mitochondrial ribonuclease P, which is involved in 5' processing of mitochondrial tRNAs. The encoded protein may confer RNA-binding capacity to mitochondrial ribonuclease P and may be essential for transcript processing, RNA modification, translation and mitochondrial respiration. [provided by RefSeq, Nov 2012]
Allele List at MGI
Other mutations in this stock
Total: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam22 C A 5: 8,137,750 (GRCm39) probably null Het
Ank1 A G 8: 23,607,074 (GRCm39) D1325G probably damaging Het
Asxl1 T C 2: 153,242,572 (GRCm39) S1042P probably damaging Het
Bpifb1 C T 2: 154,044,649 (GRCm39) H39Y possibly damaging Het
Capn13 C A 17: 73,622,300 (GRCm39) M663I probably damaging Het
Cemip2 C A 19: 21,775,480 (GRCm39) T241K probably damaging Het
Clec2g A G 6: 128,956,400 (GRCm39) E72G probably damaging Het
Col12a1 T A 9: 79,558,768 (GRCm39) Y1899F probably damaging Het
Ctbp2 A G 7: 132,616,353 (GRCm39) V194A probably benign Het
Cttnbp2 G T 6: 18,382,809 (GRCm39) L1320I probably damaging Het
E2f2 T A 4: 135,920,137 (GRCm39) L374* probably null Het
Echdc3 C T 2: 6,217,687 (GRCm39) G29S probably benign Het
Ecm1 A G 3: 95,643,494 (GRCm39) S269P probably damaging Het
Elmo2 G A 2: 165,133,664 (GRCm39) P775S unknown Het
Eno3 T A 11: 70,549,993 (GRCm39) probably null Het
Faf1 G A 4: 109,687,061 (GRCm39) R267K probably benign Het
Fam162a G A 16: 35,870,307 (GRCm39) probably benign Het
Fam178b T A 1: 36,603,532 (GRCm39) D473V probably damaging Het
Fat2 G A 11: 55,173,156 (GRCm39) T2519I probably damaging Het
Foxc2 A G 8: 121,844,834 (GRCm39) Y494C probably damaging Het
Gcnt2 C A 13: 41,107,195 (GRCm39) Q355K probably benign Het
Glg1 G T 8: 111,905,497 (GRCm39) H595N probably benign Het
Gm9913 A T 2: 125,348,480 (GRCm39) H97L unknown Het
Hbegf T A 18: 36,640,601 (GRCm39) N152I possibly damaging Het
Hipk1 G A 3: 103,667,866 (GRCm39) T567I probably damaging Het
Idh3a C T 9: 54,502,453 (GRCm39) P78S probably damaging Het
Igsf10 A T 3: 59,226,761 (GRCm39) M2304K possibly damaging Het
Inf2 A G 12: 112,573,428 (GRCm39) T723A unknown Het
Itpr2 A T 6: 146,089,048 (GRCm39) F2220Y probably benign Het
Kpnb1 C T 11: 97,059,999 (GRCm39) R557Q probably damaging Het
Lefty1 A G 1: 180,764,325 (GRCm39) D155G probably damaging Het
Lrp1 A G 10: 127,409,922 (GRCm39) C1554R probably damaging Het
Lrrc10 A G 10: 116,881,662 (GRCm39) D112G probably benign Het
Med12l A G 3: 58,984,141 (GRCm39) E439G probably damaging Het
Ms4a7 A T 19: 11,301,868 (GRCm39) F185Y probably benign Het
Mtmr6 T A 14: 60,527,101 (GRCm39) M234K probably damaging Het
Myh7b C A 2: 155,459,698 (GRCm39) probably null Het
Myo1d T C 11: 80,567,719 (GRCm39) M254V possibly damaging Het
Nbas T C 12: 13,465,662 (GRCm39) V1368A probably damaging Het
Nbeal1 G C 1: 60,276,310 (GRCm39) V684L probably benign Het
Neb A G 2: 52,096,714 (GRCm39) V4999A probably damaging Het
Npbwr1 G T 1: 5,986,927 (GRCm39) Q196K probably benign Het
Nsd3 A T 8: 26,149,833 (GRCm39) E339D possibly damaging Het
Oog4 CAA CA 4: 143,164,022 (GRCm39) probably null Het
Or11g1 T C 14: 50,651,471 (GRCm39) F157L probably damaging Het
Or6c206 A G 10: 129,096,937 (GRCm39) S36G probably damaging Het
Or7d11 T C 9: 19,965,901 (GRCm39) N168S probably damaging Het
Plxna1 C T 6: 89,308,882 (GRCm39) V1199M probably damaging Het
Ppfibp2 T A 7: 107,315,873 (GRCm39) M285K probably damaging Het
Ppip5k1 A G 2: 121,168,142 (GRCm39) Y704H probably damaging Het
Ptpn18 G A 1: 34,512,445 (GRCm39) D417N possibly damaging Het
Sbspon T C 1: 15,929,282 (GRCm39) M170V probably benign Het
Scfd2 A C 5: 74,619,297 (GRCm39) F440V probably benign Het
Slc22a19 T A 19: 7,688,302 (GRCm39) D86V possibly damaging Het
Smg5 A G 3: 88,261,202 (GRCm39) N685S possibly damaging Het
Spata46 A G 1: 170,139,333 (GRCm39) R111G possibly damaging Het
Sry A T Y: 2,663,248 (GRCm39) D137E possibly damaging Het
Tbkbp1 T C 11: 97,040,309 (GRCm39) D35G probably damaging Het
Tcf20 A T 15: 82,735,766 (GRCm39) V1895D possibly damaging Het
Tfap4 G T 16: 4,369,630 (GRCm39) Q112K possibly damaging Het
Unc80 T C 1: 66,688,881 (GRCm39) I2415T probably benign Het
Vmn2r107 A T 17: 20,576,901 (GRCm39) M300L probably benign Het
Vmn2r5 A T 3: 64,416,943 (GRCm39) F72I probably benign Het
Vmn2r53 T A 7: 12,332,425 (GRCm39) H408L probably benign Het
Zan C T 5: 137,461,802 (GRCm39) V1126M unknown Het
Zfp493 A T 13: 67,927,814 (GRCm39) probably benign Het
Zfp618 C A 4: 63,004,858 (GRCm39) A86E probably benign Het
Other mutations in Trmt10c
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0294:Trmt10c UTSW 16 55,855,240 (GRCm39) missense possibly damaging 0.78
R1779:Trmt10c UTSW 16 55,854,938 (GRCm39) missense possibly damaging 0.47
R4948:Trmt10c UTSW 16 55,854,438 (GRCm39) nonsense probably null
R5539:Trmt10c UTSW 16 55,855,324 (GRCm39) missense probably damaging 1.00
R6734:Trmt10c UTSW 16 55,854,489 (GRCm39) missense probably benign 0.24
R7380:Trmt10c UTSW 16 55,854,619 (GRCm39) missense probably damaging 1.00
R7863:Trmt10c UTSW 16 55,855,554 (GRCm39) missense probably benign 0.05
R8235:Trmt10c UTSW 16 55,854,939 (GRCm39) missense probably benign 0.01
R8354:Trmt10c UTSW 16 55,854,870 (GRCm39) missense probably benign 0.04
R8366:Trmt10c UTSW 16 55,854,426 (GRCm39) missense probably benign 0.00
R8778:Trmt10c UTSW 16 55,855,372 (GRCm39) missense probably benign 0.01
R8816:Trmt10c UTSW 16 55,854,522 (GRCm39) missense probably damaging 1.00
R9007:Trmt10c UTSW 16 55,855,542 (GRCm39) missense probably benign 0.09
R9258:Trmt10c UTSW 16 55,854,646 (GRCm39) missense possibly damaging 0.61
Predicted Primers PCR Primer
(F):5'- CTGTCGATCCCATAGTCGAAG -3'
(R):5'- TAAGGACAGTGCATCCCCTC -3'

Sequencing Primer
(F):5'- CGAAGAAACATGAAGTCTTGCTGTTG -3'
(R):5'- CCTCCTGAGCAGCTAGAATTGGATG -3'
Posted On 2019-11-12