Incidental Mutation 'R2312:Rmnd1'
ID 247348
Institutional Source Beutler Lab
Gene Symbol Rmnd1
Ensembl Gene ENSMUSG00000019763
Gene Name required for meiotic nuclear division 1 homolog
Synonyms 0610042C05Rik
MMRRC Submission 040311-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.603) question?
Stock # R2312 (G1)
Quality Score 85
Status Not validated
Chromosome 10
Chromosomal Location 4353168-4382583 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 4377466 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 71 (M71K)
Ref Sequence ENSEMBL: ENSMUSP00000119033 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000042251] [ENSMUST00000126102] [ENSMUST00000131853] [ENSMUST00000155172]
AlphaFold Q8CI78
Predicted Effect probably benign
Transcript: ENSMUST00000042251
AA Change: M71K

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000043355
Gene: ENSMUSG00000019763
AA Change: M71K

DomainStartEndE-ValueType
Pfam:DUF155 227 404 3.2e-49 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000126102
AA Change: M71K

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Predicted Effect probably benign
Transcript: ENSMUST00000131853
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132184
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148566
Predicted Effect probably benign
Transcript: ENSMUST00000155172
AA Change: M71K

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156940
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.8%
  • 20x: 93.5%
Validation Efficiency
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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aqp12 A G 1: 92,934,531 (GRCm39) E136G probably benign Het
Bltp3b A G 10: 89,616,995 (GRCm39) T179A probably damaging Het
Cdhr4 G A 9: 107,872,486 (GRCm39) V244I probably benign Het
Col1a2 G A 6: 4,518,822 (GRCm39) probably benign Het
Crygf A T 1: 65,965,717 (GRCm39) M1L probably benign Het
Dapk1 G T 13: 60,905,167 (GRCm39) C959F probably damaging Het
Dop1a C G 9: 86,403,495 (GRCm39) S1565* probably null Het
Eya4 A G 10: 22,982,163 (GRCm39) S622P probably damaging Het
Fbln1 T C 15: 85,147,549 (GRCm39) V598A probably benign Het
Gldc A T 19: 30,078,226 (GRCm39) F924I probably damaging Het
H1f10 T C 6: 87,958,130 (GRCm39) Y70C probably damaging Het
Herc1 C A 9: 66,415,563 (GRCm39) S4846* probably null Het
Jmjd1c A T 10: 67,074,629 (GRCm39) K1917N probably damaging Het
Kcnh2 A G 5: 24,529,952 (GRCm39) probably null Het
Lmtk2 T C 5: 144,110,444 (GRCm39) F388S probably damaging Het
Lpar1 A C 4: 58,487,168 (GRCm39) Y34* probably null Het
Lrpprc G A 17: 85,080,686 (GRCm39) P180S probably damaging Het
Mex3a A G 3: 88,443,785 (GRCm39) H287R probably damaging Het
Nid1 A G 13: 13,675,078 (GRCm39) T933A probably benign Het
Or52r1c A G 7: 102,735,633 (GRCm39) T298A probably damaging Het
Pcdhb7 A G 18: 37,475,250 (GRCm39) T129A probably benign Het
Pfkm T A 15: 98,023,456 (GRCm39) Y385N probably damaging Het
Prmt2 G A 10: 76,062,089 (GRCm39) Q39* probably null Het
Prx T C 7: 27,216,051 (GRCm39) V184A possibly damaging Het
Ptgdr A C 14: 45,096,619 (GRCm39) L31R probably damaging Het
Rab3b A G 4: 108,747,691 (GRCm39) T63A probably damaging Het
Rassf1 T C 9: 107,434,749 (GRCm39) M156T probably damaging Het
Rhobtb1 C A 10: 69,106,293 (GRCm39) S286* probably null Het
Rin2 C T 2: 145,702,366 (GRCm39) T354I probably benign Het
Rnf130 T A 11: 49,978,290 (GRCm39) probably null Het
Rxrb T A 17: 34,251,103 (GRCm39) probably benign Het
Ryr2 G T 13: 11,753,128 (GRCm39) T1731K probably damaging Het
Serpine2 A T 1: 79,780,570 (GRCm39) L293Q probably damaging Het
Skint6 T C 4: 113,095,339 (GRCm39) T107A probably damaging Het
Slc9a8 T A 2: 167,293,196 (GRCm39) H181Q probably benign Het
Spaca3 A T 11: 80,754,037 (GRCm39) Y58F possibly damaging Het
Sptbn1 T C 11: 30,104,249 (GRCm39) T152A probably damaging Het
Tlr2 A G 3: 83,744,847 (GRCm39) L412P probably damaging Het
Trak2 A G 1: 58,974,941 (GRCm39) S84P probably damaging Het
Trappc9 G A 15: 72,897,816 (GRCm39) R377W probably damaging Het
Trpm2 C A 10: 77,754,798 (GRCm39) E1229D probably benign Het
Ttc14 A G 3: 33,861,984 (GRCm39) probably null Het
Tyrp1 G A 4: 80,755,801 (GRCm39) W190* probably null Het
Ulk1 C T 5: 110,937,223 (GRCm39) R691Q probably benign Het
Vegfb C A 19: 6,962,795 (GRCm39) R160L possibly damaging Het
Vmn1r220 A G 13: 23,368,147 (GRCm39) M183T probably damaging Het
Vmn2r112 T A 17: 22,822,096 (GRCm39) V258E probably damaging Het
Wnt10a C A 1: 74,842,589 (GRCm39) A355E 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
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
R7777:Rmnd1 UTSW 10 4,361,713 (GRCm39) missense probably damaging 1.00
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'- GATGAGTGATGCCTCTTTACTGC -3'
(R):5'- AAGATGCGACCATGCCATCC -3'

Sequencing Primer
(F):5'- GATGCCTCTTTACTGCTTTTATAAAC -3'
(R):5'- CTGGCAAGTTTACACAGCATATCAG -3'
Posted On 2014-11-11