Incidental Mutation 'R5620:Rmnd1'
ID 439793
Institutional Source Beutler Lab
Gene Symbol Rmnd1
Ensembl Gene ENSMUSG00000019763
Gene Name required for meiotic nuclear division 1 homolog
Synonyms 0610042C05Rik
MMRRC Submission 043160-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.603) question?
Stock # R5620 (G1)
Quality Score 225
Status Not validated
Chromosome 10
Chromosomal Location 4353168-4382583 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 4372159 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Glutamic Acid at position 180 (A180E)
Ref Sequence ENSEMBL: ENSMUSP00000043355 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000042251]
AlphaFold Q8CI78
Predicted Effect probably damaging
Transcript: ENSMUST00000042251
AA Change: A180E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000043355
Gene: ENSMUSG00000019763
AA Change: A180E

DomainStartEndE-ValueType
Pfam:DUF155 227 404 3.2e-49 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132184
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156940
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.3%
  • 20x: 95.4%
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: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aaas A C 15: 102,246,826 (GRCm39) S511A probably benign Het
Abca3 C T 17: 24,615,444 (GRCm39) T845I probably benign Het
Acaa2 G A 18: 74,938,945 (GRCm39) A377T possibly damaging Het
Adcy4 C A 14: 56,009,824 (GRCm39) E743* probably null Het
Ahnak T A 19: 8,990,458 (GRCm39) L3914* probably null Het
Akap1 G T 11: 88,736,343 (GRCm39) N106K possibly damaging Het
Arid2 C T 15: 96,270,387 (GRCm39) T1500I probably benign Het
Atp6v0a2 T A 5: 124,783,909 (GRCm39) Y252* probably null Het
C4bp A G 1: 130,581,090 (GRCm39) S140P probably damaging Het
Cald1 A G 6: 34,739,047 (GRCm39) I384M probably damaging Het
Cdk12 A G 11: 98,101,809 (GRCm39) I556V unknown Het
Chmp2a T C 7: 12,766,237 (GRCm39) S174G probably benign Het
Clybl T A 14: 122,548,755 (GRCm39) N52K probably damaging Het
Cyp4a29 C A 4: 115,108,088 (GRCm39) S303R probably benign Het
Dab2 T A 15: 6,447,796 (GRCm39) D59E probably damaging Het
Dag1 C A 9: 108,086,214 (GRCm39) R309L probably damaging Het
Dync1i2 T A 2: 71,088,483 (GRCm39) M505K probably benign Het
Eif2b1 A T 5: 124,717,075 (GRCm39) M1K probably null Het
Epc1 A G 18: 6,448,917 (GRCm39) S577P probably benign Het
Eps8l1 T A 7: 4,463,945 (GRCm39) I23N possibly damaging Het
Etl4 A G 2: 20,535,037 (GRCm39) E164G probably damaging Het
Firrm C A 1: 163,789,613 (GRCm39) G641* probably null Het
Gadl1 A T 9: 115,766,230 (GRCm39) M1L probably benign Het
Gda T C 19: 21,374,908 (GRCm39) D336G probably damaging Het
Grm2 A T 9: 106,527,645 (GRCm39) V413D probably damaging Het
Hnrnpll G T 17: 80,346,051 (GRCm39) N403K probably damaging Het
Ifit1 T A 19: 34,625,238 (GRCm39) F125I probably damaging Het
Igkv5-43 C T 6: 69,800,892 (GRCm39) V2I probably benign Het
Kat5 A C 19: 5,659,507 (GRCm39) Y44* probably null Het
Klc2 A G 19: 5,162,884 (GRCm39) V205A probably damaging Het
Klrb1c T A 6: 128,761,706 (GRCm39) T133S possibly damaging Het
Krt20 A G 11: 99,326,283 (GRCm39) L157P probably damaging Het
Krt26 G T 11: 99,228,597 (GRCm39) T45N possibly damaging Het
Lama2 C T 10: 26,866,876 (GRCm39) D2873N probably damaging Het
Lig1 T A 7: 13,020,532 (GRCm39) C114S possibly damaging Het
Lonp1 G C 17: 56,927,263 (GRCm39) A330G probably benign Het
Maml2 A T 9: 13,608,616 (GRCm39) R21S probably damaging Het
Mrpl35 C T 6: 71,794,720 (GRCm39) V83I probably benign Het
Myo3b A G 2: 70,069,254 (GRCm39) R498G probably benign Het
Nup153 C A 13: 46,837,482 (GRCm39) E1247* probably null Het
Or2t48 A T 11: 58,420,557 (GRCm39) M85K probably damaging Het
Pcdhac2 A G 18: 37,277,257 (GRCm39) N79S probably benign Het
Pcgf6 C T 19: 47,036,406 (GRCm39) G221D probably damaging Het
Phf11b C T 14: 59,558,953 (GRCm39) D260N probably benign Het
Pla2g5 T C 4: 138,531,921 (GRCm39) M28V possibly damaging Het
Prpf8 T C 11: 75,395,927 (GRCm39) S1934P possibly damaging Het
Prr5 A G 15: 84,640,570 (GRCm39) S140G probably benign Het
Prrc2c T C 1: 162,501,098 (GRCm39) D1235G probably damaging Het
Rasgrp2 T C 19: 6,455,031 (GRCm39) S254P probably damaging Het
Rassf8 C T 6: 145,765,907 (GRCm39) probably benign Het
Rgs20 T A 1: 4,982,666 (GRCm39) E167D probably damaging Het
Rnf103 A G 6: 71,486,992 (GRCm39) D541G probably benign Het
Rpl9 G T 5: 65,546,468 (GRCm39) Q140K probably benign Het
Sfmbt1 T G 14: 30,506,148 (GRCm39) probably null Het
Shank1 C A 7: 43,962,160 (GRCm39) D10E unknown Het
Srrm4 G T 5: 116,587,672 (GRCm39) probably benign Het
Sucla2 T A 14: 73,832,836 (GRCm39) V447E probably damaging Het
Tbc1d1 A G 5: 64,331,055 (GRCm39) D78G probably benign Het
Tcp1 T A 17: 13,138,224 (GRCm39) probably null Het
Tctn3 C A 19: 40,597,361 (GRCm39) E230* probably null Het
Thsd7b G A 1: 130,090,673 (GRCm39) probably null Het
Tmem63a A G 1: 180,797,811 (GRCm39) M621V probably benign Het
Tnxb A T 17: 34,936,504 (GRCm39) K2756* probably null Het
Trpm8 G A 1: 88,287,373 (GRCm39) probably null Het
Txndc16 C A 14: 45,373,335 (GRCm39) V764F possibly damaging Het
Ush2a A T 1: 188,492,020 (GRCm39) D3103V possibly damaging Het
Usp22 A T 11: 61,049,206 (GRCm39) I381N probably damaging Het
Zfp462 T A 4: 55,013,464 (GRCm39) M1810K probably benign Het
Zfp64 T A 2: 168,741,888 (GRCm39) M347L possibly damaging Het
Zfp69 T C 4: 120,787,719 (GRCm39) D532G probably 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
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'- TCTTCTCAAGTGACAGTGATCC -3'
(R):5'- GAGGTGAGATTTGCCTCCATG -3'

Sequencing Primer
(F):5'- TGGCTTTGAACTCACTGAGACCAG -3'
(R):5'- AGGTGAGATTTGCCTCCATGTAACTC -3'
Posted On 2016-11-08