Incidental Mutation 'R5077:Rmnd1'
ID 401943
Institutional Source Beutler Lab
Gene Symbol Rmnd1
Ensembl Gene ENSMUSG00000019763
Gene Name required for meiotic nuclear division 1 homolog
Synonyms 0610042C05Rik
MMRRC Submission 042666-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.603) question?
Stock # R5077 (G1)
Quality Score 103
Status Not validated
Chromosome 10
Chromosomal Location 4353168-4382583 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 4377488 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Aspartic acid at position 64 (N64D)
Ref Sequence ENSEMBL: ENSMUSP00000119033 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000042251] [ENSMUST00000095893] [ENSMUST00000126102] [ENSMUST00000131853] [ENSMUST00000155172]
AlphaFold Q8CI78
Predicted Effect probably benign
Transcript: ENSMUST00000042251
AA Change: N64D

PolyPhen 2 Score 0.237 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000043355
Gene: ENSMUSG00000019763
AA Change: N64D

DomainStartEndE-ValueType
Pfam:DUF155 227 404 3.2e-49 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000095893
SMART Domains Protein: ENSMUSP00000093581
Gene: ENSMUSG00000061759

DomainStartEndE-ValueType
Pfam:DUF89 20 417 1.3e-125 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000126102
AA Change: N64D

PolyPhen 2 Score 0.237 (Sensitivity: 0.91; Specificity: 0.88)
Predicted Effect probably benign
Transcript: ENSMUST00000131853
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132184
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148566
Predicted Effect possibly damaging
Transcript: ENSMUST00000155172
AA Change: N64D

PolyPhen 2 Score 0.659 (Sensitivity: 0.86; Specificity: 0.91)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156940
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.7%
Validation Efficiency 93% (51/55)
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: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam34l A G 8: 44,080,200 (GRCm39) V8A possibly damaging Het
Agbl4 A T 4: 111,423,939 (GRCm39) M322L probably benign Het
Ankrd55 A G 13: 112,492,522 (GRCm39) K231R probably benign Het
Asap1 A C 15: 63,999,272 (GRCm39) M534R probably damaging Het
B4galnt2 T A 11: 95,767,140 (GRCm39) probably benign Het
Cacna1e A T 1: 154,437,475 (GRCm39) probably null Het
Cacna1h T C 17: 25,594,224 (GRCm39) I2311M probably benign Het
Capn2 G T 1: 182,300,138 (GRCm39) D617E possibly damaging Het
Catsper1 A G 19: 5,385,998 (GRCm39) D77G probably damaging Het
Cdc42bpa A T 1: 179,922,098 (GRCm39) probably benign Het
Cdca8 T C 4: 124,820,470 (GRCm39) K109E probably damaging Het
Dbx1 A G 7: 49,283,242 (GRCm39) S223P probably damaging Het
Dlg4 A G 11: 69,917,852 (GRCm39) N45S possibly damaging Het
Dlgap2 T G 8: 14,872,691 (GRCm39) V723G probably benign Het
Efl1 C A 7: 82,307,295 (GRCm39) Q64K probably damaging Het
Eml1 T A 12: 108,472,871 (GRCm39) probably benign Het
Fbxw16 A G 9: 109,270,117 (GRCm39) probably null Het
Gm10800 A T 2: 98,497,379 (GRCm39) L80M probably benign Het
H4c16 A G 6: 136,781,113 (GRCm39) Y89H probably benign Het
Insig2 A T 1: 121,239,964 (GRCm39) V112E probably damaging Het
Kcnip3 A G 2: 127,307,797 (GRCm39) S123P probably damaging Het
Map3k9 T C 12: 81,780,851 (GRCm39) probably null Het
Myo16 T C 8: 10,372,658 (GRCm39) V119A probably damaging Het
Naa25 G A 5: 121,562,639 (GRCm39) V474M probably benign Het
Nckap1 A T 2: 80,379,277 (GRCm39) V219E probably damaging Het
Niban1 A G 1: 151,590,274 (GRCm39) I523V probably benign Het
Nrp1 G T 8: 129,227,154 (GRCm39) probably null Het
Nsun4 A T 4: 115,905,781 (GRCm39) D58E probably benign Het
Obscn G T 11: 58,934,883 (GRCm39) A5249D probably damaging Het
Or8k53 A T 2: 86,177,683 (GRCm39) H142Q probably benign Het
Osmr A T 15: 6,873,874 (GRCm39) Y174* probably null Het
Pi4k2a T C 19: 42,108,275 (GRCm39) probably null Het
Pram1 C T 17: 33,863,878 (GRCm39) Q572* probably null Het
Prdm5 C A 6: 65,756,158 (GRCm39) T25K probably damaging Het
Psen1 T C 12: 83,771,439 (GRCm39) Y240H probably damaging Het
Pygl C T 12: 70,248,666 (GRCm39) G318S probably benign Het
Rbck1 A C 2: 152,160,371 (GRCm39) M436R probably benign Het
Resf1 T G 6: 149,227,528 (GRCm39) S191R probably benign Het
Rsph4a A G 10: 33,784,275 (GRCm39) D299G probably damaging Het
Sema4c T C 1: 36,590,812 (GRCm39) S480G probably benign Het
Srp68 T C 11: 116,136,638 (GRCm39) D552G probably damaging Het
Syde2 G T 3: 145,707,764 (GRCm39) A568S probably damaging Het
Szrd1 G T 4: 140,867,092 (GRCm39) probably null Het
Szt2 A T 4: 118,226,813 (GRCm39) probably null Het
Tbc1d31 A G 15: 57,818,797 (GRCm39) E800G probably benign Het
Tmprss11d C A 5: 86,457,122 (GRCm39) probably null Het
Usp37 A G 1: 74,480,720 (GRCm39) V895A probably damaging Het
Vmn1r19 T C 6: 57,382,026 (GRCm39) I193T probably benign Het
Vmn2r102 T C 17: 19,897,834 (GRCm39) V283A probably benign Het
Vps13d C T 4: 144,814,811 (GRCm39) G3180D probably damaging Het
Xirp2 A C 2: 67,344,821 (GRCm39) D2354A probably benign Het
Zc3h14 T A 12: 98,723,465 (GRCm39) probably null 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
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'- AAGATGCGACCATGCCATC -3'

Sequencing Primer
(F):5'- GATGCCTCTTTACTGCTTTTATAAAC -3'
(R):5'- CAGGCTTCTCCACACCCTGG -3'
Posted On 2016-07-22