Incidental Mutation 'R8816:Trmt10c'
ID 672765
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 068726-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.935) question?
Stock # R8816 (G1)
Quality Score 225.009
Status Not validated
Chromosome 16
Chromosomal Location 55854083-55858149 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 55854522 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Aspartic acid at position 371 (V371D)
Ref Sequence ENSEMBL: ENSMUSP00000058954 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000059052] [ENSMUST00000114444] [ENSMUST00000122253] [ENSMUST00000125040] [ENSMUST00000130818]
AlphaFold Q3UFY8
Predicted Effect probably damaging
Transcript: ENSMUST00000059052
AA Change: V371D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000058954
Gene: ENSMUSG00000044763
AA Change: V371D

DomainStartEndE-ValueType
coiled coil region 133 171 N/A INTRINSIC
Pfam:tRNA_m1G_MT 207 375 2e-47 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000114444
SMART Domains Protein: ENSMUSP00000110087
Gene: ENSMUSG00000071533

DomainStartEndE-ValueType
Pfam:PCNP 22 171 4.8e-71 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000122253
SMART Domains Protein: ENSMUSP00000113605
Gene: ENSMUSG00000071533

DomainStartEndE-ValueType
Pfam:PCNP 22 139 3.1e-51 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000125040
Predicted Effect probably benign
Transcript: ENSMUST00000130818
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency
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: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca6 T A 11: 110,127,513 (GRCm39) H348L probably benign Het
Alpk1 A T 3: 127,478,024 (GRCm39) Y74* probably null Het
Ass1 T C 2: 31,383,189 (GRCm39) probably benign Het
Atp8b4 C T 2: 126,214,084 (GRCm39) probably benign Het
Atrn C A 2: 130,748,798 (GRCm39) N106K probably damaging Het
Atrn T C 2: 130,846,494 (GRCm39) V1256A probably damaging Het
Bicdl1 T A 5: 115,862,804 (GRCm39) Q150H probably damaging Het
Bltp3b T C 10: 89,626,597 (GRCm39) probably benign Het
Cdhr4 T C 9: 107,872,791 (GRCm39) V280A possibly damaging Het
Cfap54 C T 10: 92,714,454 (GRCm39) V2642I unknown Het
Chd2 T C 7: 73,140,245 (GRCm39) H661R probably damaging Het
Cntnap2 A G 6: 46,833,076 (GRCm39) D763G possibly damaging Het
Csnk1g2 T C 10: 80,474,093 (GRCm39) C160R probably damaging Het
Cyb5r4 T C 9: 86,904,286 (GRCm39) S19P probably benign Het
Cyp4a30b G A 4: 115,309,834 (GRCm39) V12M probably benign Het
Dpp6 C T 5: 27,930,711 (GRCm39) P848S probably benign Het
Dzip1 T C 14: 119,159,785 (GRCm39) Y141C probably benign Het
Eif2b3 C A 4: 116,928,052 (GRCm39) Q424K probably benign Het
Fbxw14 G A 9: 109,105,305 (GRCm39) R287* probably null Het
Fcgbp T G 7: 27,784,412 (GRCm39) S157R probably benign Het
Fmnl2 T G 2: 53,004,214 (GRCm39) V642G unknown Het
Gpr119 C T X: 47,762,276 (GRCm39) R287Q possibly damaging Het
Grm7 C T 6: 111,230,966 (GRCm39) T463I possibly damaging Het
Haus4 G A 14: 54,779,710 (GRCm39) R305C probably benign Het
Htr1f A G 16: 64,746,537 (GRCm39) S252P probably benign Het
Ino80b T C 6: 83,098,861 (GRCm39) Q359R probably damaging Het
Itgad C A 7: 127,797,542 (GRCm39) Y924* probably null Het
Itpr2 A G 6: 146,142,710 (GRCm39) Y1703H probably damaging Het
Kif5c T A 2: 49,584,799 (GRCm39) V174E probably damaging Het
Kifc2 A G 15: 76,548,371 (GRCm39) E405G probably damaging Het
Klk1b3 T C 7: 43,851,668 (GRCm39) V242A possibly damaging Het
Kndc1 T C 7: 139,517,909 (GRCm39) F1615S probably damaging Het
Lmtk2 T A 5: 144,112,793 (GRCm39) L1171* probably null Het
Myh10 A G 11: 68,693,778 (GRCm39) E1530G probably damaging Het
Nav3 T A 10: 109,699,721 (GRCm39) S258C possibly damaging Het
Nudcd3 C T 11: 6,100,587 (GRCm39) G186S probably damaging Het
Or9s15 T A 1: 92,524,768 (GRCm39) C176S probably damaging Het
Otog C T 7: 45,950,905 (GRCm39) S374F possibly damaging Het
P2ry2 T A 7: 100,647,763 (GRCm39) I181F possibly damaging Het
Pde11a T C 2: 76,121,577 (GRCm39) I335V probably benign Het
Phyhip A C 14: 70,704,375 (GRCm39) D198A probably damaging Het
Pik3r5 A T 11: 68,385,060 (GRCm39) Y655F probably damaging Het
Rab6a T C 7: 100,279,145 (GRCm39) I95T possibly damaging Het
Sgsm1 T C 5: 113,435,097 (GRCm39) E99G probably damaging Het
Skint10 A T 4: 112,603,892 (GRCm39) F98L probably benign Het
Slc35c2 A G 2: 165,119,378 (GRCm39) S321P probably benign Het
Smyd1 T A 6: 71,192,868 (GRCm39) E447V probably damaging Het
Smyd4 T C 11: 75,281,232 (GRCm39) V235A probably benign Het
Sod2 A G 17: 13,227,253 (GRCm39) Y69C probably benign Het
Spns1 G A 7: 125,971,593 (GRCm39) S319F possibly damaging Het
Tfap2b A G 1: 19,284,337 (GRCm39) S82G probably benign Het
Tln2 C A 9: 67,128,693 (GRCm39) E1465D possibly damaging Het
Tln2 A G 9: 67,128,799 (GRCm39) I1430T probably damaging Het
Trio G T 15: 27,741,357 (GRCm39) N2680K probably damaging Het
Trpm3 T C 19: 22,965,580 (GRCm39) S1692P probably damaging Het
Usb1 G T 8: 96,071,984 (GRCm39) C228F probably benign Het
Veph1 G T 3: 66,065,646 (GRCm39) H474N probably benign Het
Wls A G 3: 159,639,928 (GRCm39) T520A possibly damaging Het
Ywhae T C 11: 75,623,878 (GRCm39) Y9H probably damaging Het
Zranb3 C T 1: 127,964,347 (GRCm39) V127M possibly damaging 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
R7678:Trmt10c UTSW 16 55,855,302 (GRCm39) missense probably benign 0.17
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
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'- AGGCAAACCTCTACTGTTAGTC -3'
(R):5'- CTGCAGATTCTCCCAATGTTATGAC -3'

Sequencing Primer
(F):5'- GGCAAACCTCTACTGTTAGTCTAGAG -3'
(R):5'- CCAATGTTATGACTACCTTCAAGC -3'
Posted On 2021-04-30