Incidental Mutation 'R7777:Rmnd1'
ID 598959
Institutional Source Beutler Lab
Gene Symbol Rmnd1
Ensembl Gene ENSMUSG00000019763
Gene Name required for meiotic nuclear division 1 homolog
Synonyms 0610042C05Rik
MMRRC Submission 045833-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.603) question?
Stock # R7777 (G1)
Quality Score 225.009
Status Validated
Chromosome 10
Chromosomal Location 4353168-4382583 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 4361713 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 320 (E320G)
Ref Sequence ENSEMBL: ENSMUSP00000043355 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000042251] [ENSMUST00000128434]
AlphaFold Q8CI78
Predicted Effect probably damaging
Transcript: ENSMUST00000042251
AA Change: E320G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000043355
Gene: ENSMUSG00000019763
AA Change: E320G

DomainStartEndE-ValueType
Pfam:DUF155 227 404 3.2e-49 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000128434
SMART Domains Protein: ENSMUSP00000119195
Gene: ENSMUSG00000019763

DomainStartEndE-ValueType
Pfam:DUF155 1 42 8.4e-15 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.2%
Validation Efficiency 100% (47/47)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the evolutionary conserved sif2 family of proteins that share the DUF155 domain in common. This protein is thought to be localized in the mitochondria and involved in mitochondrial translation. Mutations in this gene are associated with combined oxidative phosphorylation deficiency-11. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Dec 2012]
Allele List at MGI
Other mutations in this stock
Total: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam6b C T 12: 113,453,758 (GRCm39) P192S possibly damaging Het
Arhgef10 A G 8: 14,995,373 (GRCm39) T353A probably damaging Het
Cabyr A G 18: 12,877,828 (GRCm39) D55G probably damaging Het
Dcaf4 T C 12: 83,584,733 (GRCm39) V322A probably damaging Het
Ephb2 T A 4: 136,498,947 (GRCm39) E44V possibly damaging Het
Fam3c T C 6: 22,328,573 (GRCm39) I105V probably benign Het
Fras1 A G 5: 96,900,763 (GRCm39) D2994G probably damaging Het
Fryl C T 5: 73,228,641 (GRCm39) D1697N probably damaging Het
Gapdh A T 6: 125,139,911 (GRCm39) Y164* probably null Het
Gm4353 T G 7: 115,682,998 (GRCm39) Q194H possibly damaging Het
Ilvbl T A 10: 78,413,085 (GRCm39) probably null Het
Ism2 T A 12: 87,333,658 (GRCm39) probably null Het
Jak2 C T 19: 29,254,268 (GRCm39) T196I probably benign Het
Lcor T G 19: 41,547,234 (GRCm39) Y273D probably benign Het
Ldlrad4 G T 18: 68,368,740 (GRCm39) A66S possibly damaging Het
Lysmd4 T A 7: 66,873,446 (GRCm39) M27K possibly damaging Het
Muc17 G A 5: 137,175,564 (GRCm39) silent Het
Or11h4b A T 14: 50,918,261 (GRCm39) Y277N probably damaging Het
Or13a25 T A 7: 140,247,854 (GRCm39) I211N probably benign Het
Or5m10 A G 2: 85,717,951 (GRCm39) E269G possibly damaging Het
Oscp1 T C 4: 125,958,774 (GRCm39) probably null Het
Pira2 A T 7: 3,844,696 (GRCm39) F445Y probably benign Het
Pkd2l2 C A 18: 34,549,913 (GRCm39) P186Q probably damaging Het
Plcb1 G A 2: 135,062,677 (GRCm39) G96R possibly damaging Het
Plcd3 G C 11: 102,965,481 (GRCm39) R535G probably benign Het
Plcg1 A G 2: 160,596,523 (GRCm39) M681V possibly damaging Het
Polr1b C A 2: 128,967,464 (GRCm39) F952L probably damaging Het
Polrmt A T 10: 79,575,022 (GRCm39) D836E probably benign Het
Pramel12 T C 4: 143,144,331 (GRCm39) Y226H possibly damaging Het
Prkag1 A T 15: 98,712,478 (GRCm39) I149N probably damaging Het
Prkci A T 3: 31,104,362 (GRCm39) Q575L possibly damaging Het
Prss40 C T 1: 34,591,846 (GRCm39) W276* probably null Het
Ptprn T C 1: 75,228,946 (GRCm39) D823G possibly damaging Het
Radil A C 5: 142,529,303 (GRCm39) F131C probably damaging Het
Rif1 A G 2: 52,006,368 (GRCm39) I550V probably benign Het
Sec31b T A 19: 44,512,212 (GRCm39) K561* probably null Het
Spata31g1 C T 4: 42,970,171 (GRCm39) Q53* probably null Het
Spata31g1 T C 4: 42,971,095 (GRCm39) S143P probably benign Het
Tbx5 A C 5: 120,021,232 (GRCm39) T413P probably benign Het
Tmprss7 A G 16: 45,480,963 (GRCm39) probably null Het
Tnfaip8l2 T C 3: 95,047,307 (GRCm39) *185W probably null Het
Tpst2 A G 5: 112,457,560 (GRCm39) E296G possibly damaging Het
Ubn2 T A 6: 38,467,688 (GRCm39) S801T probably damaging Het
Usp34 A G 11: 23,332,638 (GRCm39) S1141G Het
Uts2r A G 11: 121,052,279 (GRCm39) N381S probably benign Het
Vmn2r44 G T 7: 8,381,314 (GRCm39) T193K possibly damaging Het
Wdr18 T A 10: 79,801,884 (GRCm39) M223K probably benign Het
Wdr64 T C 1: 175,617,564 (GRCm39) C715R possibly damaging Het
Zfp672 A G 11: 58,208,081 (GRCm39) F80S possibly damaging Het
Other mutations in Rmnd1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01018:Rmnd1 APN 10 4,377,290 (GRCm39) missense probably benign 0.43
IGL01018:Rmnd1 APN 10 4,377,392 (GRCm39) missense probably benign
IGL01112:Rmnd1 APN 10 4,360,793 (GRCm39) splice site probably null
R0418:Rmnd1 UTSW 10 4,377,693 (GRCm39) critical splice acceptor site probably null
R2036:Rmnd1 UTSW 10 4,357,884 (GRCm39) missense probably damaging 1.00
R2312:Rmnd1 UTSW 10 4,377,466 (GRCm39) missense probably benign
R2319:Rmnd1 UTSW 10 4,372,099 (GRCm39) missense possibly damaging 0.62
R4191:Rmnd1 UTSW 10 4,360,809 (GRCm39) unclassified probably benign
R5077:Rmnd1 UTSW 10 4,377,488 (GRCm39) missense possibly damaging 0.66
R5620:Rmnd1 UTSW 10 4,372,159 (GRCm39) missense probably damaging 1.00
R5659:Rmnd1 UTSW 10 4,377,382 (GRCm39) missense probably benign 0.04
R6291:Rmnd1 UTSW 10 4,372,135 (GRCm39) missense probably damaging 1.00
R7089:Rmnd1 UTSW 10 4,353,873 (GRCm39) missense probably damaging 1.00
R7214:Rmnd1 UTSW 10 4,360,753 (GRCm39) missense probably benign
R7260:Rmnd1 UTSW 10 4,364,803 (GRCm39) splice site probably null
R7540:Rmnd1 UTSW 10 4,353,989 (GRCm39) missense probably damaging 1.00
R7599:Rmnd1 UTSW 10 4,363,404 (GRCm39) missense probably benign 0.11
R7719:Rmnd1 UTSW 10 4,377,496 (GRCm39) missense probably benign
R7809:Rmnd1 UTSW 10 4,357,848 (GRCm39) missense probably damaging 1.00
R8397:Rmnd1 UTSW 10 4,377,278 (GRCm39) nonsense probably null
R8993:Rmnd1 UTSW 10 4,357,918 (GRCm39) missense probably benign 0.40
R9058:Rmnd1 UTSW 10 4,363,398 (GRCm39) missense probably benign 0.05
X0026:Rmnd1 UTSW 10 4,377,676 (GRCm39) start codon destroyed probably null 0.99
Predicted Primers PCR Primer
(F):5'- TCCTGGTCGTTAGCTCATCG -3'
(R):5'- CTTCGTGTCTGAGCCATACTTAG -3'

Sequencing Primer
(F):5'- CTCATCGCTTCGTGTGTAACTGAAAG -3'
(R):5'- TCTGAGCCATACTTAGAGGGC -3'
Posted On 2019-11-26