Incidental Mutation 'R5266:Mrm1'
ID 401715
Institutional Source Beutler Lab
Gene Symbol Mrm1
Ensembl Gene ENSMUSG00000018405
Gene Name mitochondrial rRNA methyltransferase 1
Synonyms A530065E19Rik
MMRRC Submission 042858-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.100) question?
Stock # R5266 (G1)
Quality Score 146
Status Validated
Chromosome 11
Chromosomal Location 84703887-84710341 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 84710086 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Glutamine at position 38 (L38Q)
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: L38Q

PolyPhen 2 Score 0.584 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000018549
Gene: ENSMUSG00000018405
AA Change: L38Q

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
Meta Mutation Damage Score 0.1468 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.3%
  • 20x: 92.6%
Validation Efficiency 97% (56/58)
Allele List at MGI
Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930503L19Rik T C 18: 70,591,455 (GRCm39) N457S probably damaging Het
Asic4 G A 1: 75,427,567 (GRCm39) G31E probably benign Het
Atp2a3 A G 11: 72,866,223 (GRCm39) D281G probably damaging Het
Azin1 T C 15: 38,491,795 (GRCm39) D387G probably benign Het
Bdp1 T C 13: 100,204,043 (GRCm39) M660V probably benign Het
Catsperg2 G A 7: 29,416,491 (GRCm39) T307M probably damaging Het
Cfap54 T G 10: 92,651,764 (GRCm39) K3095N probably benign Het
Chl1 A G 6: 103,677,504 (GRCm39) N706S probably damaging Het
Crym A G 7: 119,798,517 (GRCm39) V113A probably benign Het
Cux1 A G 5: 136,341,548 (GRCm39) S607P probably damaging Het
Cyp3a44 T C 5: 145,731,207 (GRCm39) N198D possibly damaging Het
Dnase1l1 C T X: 73,320,644 (GRCm39) probably null Het
Elac1 A G 18: 73,875,740 (GRCm39) V97A probably benign Het
Erbb3 G A 10: 128,405,505 (GRCm39) T1251M probably damaging Het
Gask1b T A 3: 79,843,910 (GRCm39) N12K probably damaging Het
Gprc5c G T 11: 114,755,093 (GRCm39) V257L possibly damaging Het
Hydin A G 8: 111,061,416 (GRCm39) H316R possibly damaging Het
Ikzf3 A T 11: 98,381,406 (GRCm39) M58K probably benign Het
Lyst T C 13: 13,835,555 (GRCm39) Y1746H probably damaging Het
Map3k11 T A 19: 5,750,622 (GRCm39) N613K probably benign Het
Mfng C T 15: 78,648,588 (GRCm39) R163H probably benign Het
Myo7b A G 18: 32,131,787 (GRCm39) F470L probably damaging Het
Ndst2 G A 14: 20,774,555 (GRCm39) R834W probably damaging Het
Opa1 T A 16: 29,436,948 (GRCm39) I637N probably benign Het
Or52h9 A T 7: 104,203,026 (GRCm39) Q300L probably benign Het
Or5d43 T C 2: 88,104,565 (GRCm39) Y276C possibly damaging Het
Padi4 A G 4: 140,473,442 (GRCm39) V665A possibly damaging Het
Pcdh1 A G 18: 38,325,252 (GRCm39) Y897H probably damaging Het
Pkp3 A G 7: 140,663,190 (GRCm39) D345G probably damaging Het
Pla2g4a T C 1: 149,740,918 (GRCm39) M366V possibly damaging Het
Pnkp C T 7: 44,511,827 (GRCm39) S113L probably damaging Het
Pon3 T C 6: 5,240,860 (GRCm39) D34G possibly damaging Het
Ppargc1b A T 18: 61,448,876 (GRCm39) S133T probably damaging Het
Ppp4r3b T C 11: 29,123,309 (GRCm39) S2P possibly damaging Het
Rbm20 A G 19: 53,801,818 (GRCm39) T109A probably damaging Het
Rexo5 C A 7: 119,443,660 (GRCm39) H690Q probably benign Het
Scube2 C T 7: 109,408,437 (GRCm39) G670D probably damaging Het
Sipa1l2 T C 8: 126,218,865 (GRCm39) I157M probably damaging Het
Slbp A T 5: 33,801,210 (GRCm39) I167N probably damaging Het
Sry C G Y: 2,662,975 (GRCm39) Q228H unknown Het
Stk36 T C 1: 74,650,317 (GRCm39) V283A probably benign Het
Tead1 A G 7: 112,358,673 (GRCm39) probably benign Het
Tecpr2 G C 12: 110,881,836 (GRCm39) W135S probably damaging Het
Tha1 A C 11: 117,760,502 (GRCm39) S241A probably damaging Het
Ttc39a A T 4: 109,279,701 (GRCm39) I112F probably benign Het
Vmn1r128 A T 7: 21,083,328 (GRCm39) T11S probably benign Het
Vnn1 G A 10: 23,779,303 (GRCm39) C404Y probably damaging Het
Wdr41 T C 13: 95,131,759 (GRCm39) F57L probably damaging Het
Zfp975 T G 7: 42,311,654 (GRCm39) T320P probably damaging Het
Zfp985 A T 4: 147,667,289 (GRCm39) probably null Het
Zfpm2 T C 15: 40,962,865 (GRCm39) S176P probably benign 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
R0381:Mrm1 UTSW 11 84,709,509 (GRCm39) missense possibly damaging 0.91
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
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'- CATCCAGTTTCTGACGCCTG -3'
(R):5'- AAGGTTAGCTCAGCACCAG -3'

Sequencing Primer
(F):5'- GCCTCAAGACAGGGATGC -3'
(R):5'- TGCGACTCACTCCTGTAGG -3'
Posted On 2016-07-06