Incidental Mutation 'R0381:Mrm1'
ID 30979
Institutional Source Beutler Lab
Gene Symbol Mrm1
Ensembl Gene ENSMUSG00000018405
Gene Name mitochondrial rRNA methyltransferase 1
Synonyms A530065E19Rik
MMRRC Submission 038587-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.100) question?
Stock # R0381 (G1)
Quality Score 225
Status Not validated
Chromosome 11
Chromosomal Location 84703887-84710341 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 84709509 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 183 (T183A)
Ref Sequence ENSEMBL: ENSMUSP00000018549 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000018549] [ENSMUST00000047560] [ENSMUST00000151496]
AlphaFold Q99J25
Predicted Effect possibly damaging
Transcript: ENSMUST00000018549
AA Change: T183A

PolyPhen 2 Score 0.907 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000018549
Gene: ENSMUSG00000018405
AA Change: T183A

DomainStartEndE-ValueType
SpoU_sub_bind 49 127 3.31e-11 SMART
Pfam:SpoU_methylase 143 299 3.2e-31 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000047560
SMART Domains Protein: ENSMUSP00000043467
Gene: ENSMUSG00000034449

DomainStartEndE-ValueType
Pfam:adh_short 12 214 1.4e-46 PFAM
Pfam:KR 13 154 1.7e-11 PFAM
Pfam:Epimerase 14 251 4.8e-7 PFAM
Pfam:adh_short_C2 18 245 1.8e-16 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139076
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144104
Predicted Effect probably benign
Transcript: ENSMUST00000151496
SMART Domains Protein: ENSMUSP00000122267
Gene: ENSMUSG00000034449

DomainStartEndE-ValueType
Pfam:adh_short 12 49 6.3e-8 PFAM
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.4%
  • 10x: 96.5%
  • 20x: 93.6%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc8 A G 7: 45,757,858 (GRCm39) V1297A possibly damaging Het
Agbl2 C T 2: 90,614,442 (GRCm39) H25Y probably damaging Het
Akap11 A T 14: 78,750,990 (GRCm39) W466R probably benign Het
Ccdc66 T A 14: 27,213,890 (GRCm39) Q471L probably damaging Het
Dennd1c G A 17: 57,380,822 (GRCm39) A210V probably damaging Het
F13b A G 1: 139,438,597 (GRCm39) K334E probably damaging Het
Fam186a A C 15: 99,840,055 (GRCm39) I2063R probably damaging Het
Fcrl5 T C 3: 87,353,767 (GRCm39) Y371H probably damaging Het
Fnbp1 C T 2: 30,923,041 (GRCm39) G549D probably benign Het
Fndc3a A G 14: 72,794,067 (GRCm39) Y869H probably benign Het
Gm7592 A G 1: 85,454,437 (GRCm39) noncoding transcript Het
Gucy2d C A 7: 98,108,209 (GRCm39) probably null Het
Hmcn1 C T 1: 150,479,562 (GRCm39) C4634Y probably damaging Het
Kctd5 A G 17: 24,278,194 (GRCm39) probably null Het
Kics2 T C 10: 121,581,280 (GRCm39) Y94H probably damaging Het
Mettl24 C A 10: 40,622,386 (GRCm39) H203N probably damaging Het
Mitf A G 6: 97,970,104 (GRCm39) E17G probably damaging Het
Mmut T A 17: 41,248,149 (GRCm39) W59R probably benign Het
Mrc1 G A 2: 14,312,720 (GRCm39) D881N probably benign Het
Mylk G A 16: 34,605,344 (GRCm39) probably null Het
Nab2 G A 10: 127,500,936 (GRCm39) A19V probably damaging Het
Ntsr2 T A 12: 16,709,719 (GRCm39) Y333* probably null Het
Sephs1 A G 2: 4,904,371 (GRCm39) T250A probably benign Het
Sypl2 T C 3: 108,133,473 (GRCm39) E32G possibly damaging Het
Tasp1 T C 2: 139,793,403 (GRCm39) K258E probably damaging Het
Tcam1 G A 11: 106,174,904 (GRCm39) E120K probably benign Het
Tenm4 G T 7: 96,555,088 (GRCm39) V2561F probably damaging Het
Tmc1 T C 19: 20,776,409 (GRCm39) Y650C probably damaging Het
Trim34b T C 7: 103,979,062 (GRCm39) L103P probably damaging Het
Usp47 T C 7: 111,662,600 (GRCm39) probably null Het
Vmn1r201 T A 13: 22,659,193 (GRCm39) W136R probably damaging Het
Vmn2r104 A T 17: 20,268,264 (GRCm39) Y68* probably null Het
Wscd2 T A 5: 113,689,192 (GRCm39) L66Q probably damaging Het
Other mutations in Mrm1
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0226:Mrm1 UTSW 11 84,709,996 (GRCm39) missense possibly damaging 0.73
R0257:Mrm1 UTSW 11 84,705,649 (GRCm39) splice site probably benign
R0563:Mrm1 UTSW 11 84,705,539 (GRCm39) missense probably damaging 1.00
R0715:Mrm1 UTSW 11 84,705,639 (GRCm39) splice site probably benign
R1710:Mrm1 UTSW 11 84,709,518 (GRCm39) missense probably damaging 1.00
R4402:Mrm1 UTSW 11 84,709,915 (GRCm39) missense probably damaging 1.00
R4413:Mrm1 UTSW 11 84,710,054 (GRCm39) missense possibly damaging 0.46
R5266:Mrm1 UTSW 11 84,710,086 (GRCm39) missense possibly damaging 0.58
R5930:Mrm1 UTSW 11 84,710,018 (GRCm39) missense probably damaging 1.00
R7833:Mrm1 UTSW 11 84,709,469 (GRCm39) missense probably damaging 1.00
R9487:Mrm1 UTSW 11 84,705,531 (GRCm39) missense probably damaging 1.00
R9504:Mrm1 UTSW 11 84,710,132 (GRCm39) missense probably damaging 1.00
R9680:Mrm1 UTSW 11 84,710,144 (GRCm39) missense possibly damaging 0.92
X0017:Mrm1 UTSW 11 84,705,749 (GRCm39) missense possibly damaging 0.83
Predicted Primers PCR Primer
(F):5'- GGTCGTAGGAATCAATGCCACCAC -3'
(R):5'- TTCCTCGGCGTAGACAGAGTCATC -3'

Sequencing Primer
(F):5'- AATGCCACCACGTCCCTTC -3'
(R):5'- GCGTAGACAGAGTCATCACCAG -3'
Posted On 2013-04-24