Incidental Mutation 'R0715:Mrm1'
ID 62829
Institutional Source Beutler Lab
Gene Symbol Mrm1
Ensembl Gene ENSMUSG00000018405
Gene Name mitochondrial rRNA methyltransferase 1
Synonyms A530065E19Rik
MMRRC Submission 038898-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.100) question?
Stock # R0715 (G1)
Quality Score 135
Status Validated
Chromosome 11
Chromosomal Location 84703887-84710341 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) A to G at 84705639 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000018549 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000018549]
AlphaFold Q99J25
Predicted Effect probably benign
Transcript: ENSMUST00000018549
SMART Domains Protein: ENSMUSP00000018549
Gene: ENSMUSG00000018405

DomainStartEndE-ValueType
SpoU_sub_bind 49 127 3.31e-11 SMART
Pfam:SpoU_methylase 143 299 3.2e-31 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139076
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144104
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.8%
  • 10x: 97.6%
  • 20x: 95.8%
Validation Efficiency 98% (61/62)
Allele List at MGI
Other mutations in this stock
Total: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930438A08Rik A G 11: 58,179,176 (GRCm39) Y170C probably damaging Het
Adcy2 C T 13: 69,036,161 (GRCm39) V167I probably benign Het
Agl A G 3: 116,545,825 (GRCm39) Y1324H probably damaging Het
Arhgef37 G T 18: 61,641,860 (GRCm39) Q170K probably damaging Het
Asah2 A G 19: 31,994,176 (GRCm39) S390P probably damaging Het
Atp8a1 A T 5: 67,932,068 (GRCm39) H240Q probably benign Het
Btbd16 T A 7: 130,390,557 (GRCm39) N151K probably damaging Het
Ccdc73 T A 2: 104,803,499 (GRCm39) probably benign Het
Cecr2 G T 6: 120,735,159 (GRCm39) M21I probably benign Het
Ckap2l T C 2: 129,127,636 (GRCm39) T181A probably benign Het
Col4a3 T C 1: 82,629,879 (GRCm39) probably benign Het
Cplane1 T A 15: 8,252,576 (GRCm39) C1933S probably benign Het
Dnah9 A G 11: 65,972,074 (GRCm39) probably benign Het
Efcab3 T C 11: 104,611,706 (GRCm39) L516P possibly damaging Het
Fat3 T C 9: 16,286,419 (GRCm39) T1035A probably benign Het
Fzd8 A G 18: 9,212,947 (GRCm39) T10A unknown Het
Gm9631 C A 11: 121,833,328 (GRCm39) C636F probably damaging Het
Gp1ba A G 11: 70,531,614 (GRCm39) probably benign Het
Gsk3a A G 7: 24,931,134 (GRCm39) V277A probably damaging Het
H2-M1 T A 17: 36,981,120 (GRCm39) probably benign Het
Hesx1 T A 14: 26,722,809 (GRCm39) W45R probably damaging Het
Il23r T A 6: 67,463,317 (GRCm39) M59L possibly damaging Het
Insc T A 7: 114,444,312 (GRCm39) V433E probably benign Het
Itga8 T C 2: 12,196,053 (GRCm39) probably benign Het
Kif13a T A 13: 46,966,299 (GRCm39) E436V probably damaging Het
Liph A G 16: 21,814,100 (GRCm39) F7S probably benign Het
Lpar2 T C 8: 70,276,823 (GRCm39) V204A probably damaging Het
Lrfn4 T A 19: 4,662,668 (GRCm39) probably null Het
Man2b2 A T 5: 36,983,402 (GRCm39) D182E probably benign Het
Mmp27 T C 9: 7,581,156 (GRCm39) probably benign Het
Mtx3 T C 13: 92,986,869 (GRCm39) S271P probably damaging Het
Myh11 A T 16: 14,044,480 (GRCm39) M641K possibly damaging Het
Necab2 A G 8: 120,197,670 (GRCm39) D332G probably damaging Het
Ngfr A G 11: 95,465,065 (GRCm39) I261T possibly damaging Het
Nrap T C 19: 56,345,757 (GRCm39) E617G probably damaging Het
Obscn G T 11: 58,941,306 (GRCm39) T4505K probably benign Het
Or8b37 G T 9: 37,959,123 (GRCm39) V202L probably benign Het
Or8b57 A G 9: 40,003,807 (GRCm39) Y148H probably damaging Het
Osbpl11 T A 16: 33,062,100 (GRCm39) probably benign Het
Otof A G 5: 30,552,041 (GRCm39) V301A probably damaging Het
Phf3 A T 1: 30,850,919 (GRCm39) L1145Q probably damaging Het
Phospho2 T A 2: 69,626,540 (GRCm39) I232N possibly damaging Het
Pomgnt2 T A 9: 121,811,127 (GRCm39) K551N probably damaging Het
Ptchd3 A G 11: 121,721,984 (GRCm39) T286A possibly damaging Het
Rnf213 A G 11: 119,331,976 (GRCm39) D2396G probably damaging Het
Sh3pxd2b A G 11: 32,373,341 (GRCm39) E836G possibly damaging Het
Simc1 G T 13: 54,673,468 (GRCm39) M605I possibly damaging Het
Slc12a3 G A 8: 95,056,061 (GRCm39) E66K possibly damaging Het
Spg11 T C 2: 121,915,464 (GRCm39) N1060S probably benign Het
Supt5 A T 7: 28,028,462 (GRCm39) W178R probably damaging Het
Tmem41a G T 16: 21,756,740 (GRCm39) F126L probably benign Het
Ube2m T A 7: 12,771,553 (GRCm39) Q35L probably benign Het
Usp33 A G 3: 152,086,211 (GRCm39) D658G probably damaging Het
Vmn2r12 A T 5: 109,238,373 (GRCm39) C456S probably benign Het
Vmn2r81 T A 10: 79,104,434 (GRCm39) D352E probably damaging Het
Zfp516 A G 18: 83,005,388 (GRCm39) Y764C probably damaging Het
Zswim7 A G 11: 62,167,473 (GRCm39) 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
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'- AGGGCACGCTTGCTTTACACAC -3'
(R):5'- GCACCAGCACATGGCATTTTCTTTC -3'

Sequencing Primer
(F):5'- aggggaggggaggggag -3'
(R):5'- TTCTAGGCCAAGGCCCAG -3'
Posted On 2013-07-30