Incidental Mutation 'IGL01018:Rmnd1'
ID53823
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rmnd1
Ensembl Gene ENSMUSG00000019763
Gene Namerequired for meiotic nuclear division 1 homolog
Synonyms
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.265) question?
Stock #IGL01018
Quality Score
Status
Chromosome10
Chromosomal Location4401915-4432388 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 4427392 bp
ZygosityHeterozygous
Amino Acid Change Tryptophan to Arginine at position 96 (W96R)
Ref Sequence ENSEMBL: ENSMUSP00000119033 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000042251] [ENSMUST00000126102] [ENSMUST00000131853] [ENSMUST00000155172]
Predicted Effect probably benign
Transcript: ENSMUST00000042251
AA Change: W96R

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000043355
Gene: ENSMUSG00000019763
AA Change: W96R

DomainStartEndE-ValueType
Pfam:DUF155 227 404 3.2e-49 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000126102
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: W96R

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156940
Coding Region Coverage
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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4931408C20Rik T C 1: 26,682,910 E1063G probably damaging Het
5530400C23Rik G T 6: 133,294,497 R168I probably benign Het
5530400C23Rik A T 6: 133,294,498 R168S probably benign Het
9230019H11Rik A G 10: 3,120,231 noncoding transcript Het
9230019H11Rik A G 10: 3,120,209 noncoding transcript Het
9230019H11Rik G A 10: 3,125,031 noncoding transcript Het
9230019H11Rik C T 10: 3,125,193 noncoding transcript Het
Armt1 C T 10: 4,454,237 probably benign Het
Armt1 T A 10: 4,450,732 S160T probably benign Het
Ccdc170 T C 10: 4,512,788 W35R probably benign Het
Ccdc170 G T 10: 4,514,155 A99S probably benign Het
Ccdc170 T C 10: 4,514,114 V31A probably benign Het
Glp2r C A 11: 67,709,644 V460F probably benign Het
Gm21411 T C 4: 146,892,577 Q80R probably benign Het
Gm21411 C T 4: 146,892,610 S69N possibly damaging Het
Gm21671 G T 5: 25,950,723 H208N probably benign Het
Gm21738 G A 14: 19,418,856 P24L probably benign Het
H2-M10.6 C T 17: 36,812,220 A15V probably benign Het
H60c A C 10: 3,260,343 F69V probably benign Het
H60c T C 10: 3,259,766 M174V probably benign Het
Ipcef1 G A 10: 6,890,551 A382V probably benign Het
Ipcef1 C T 10: 6,919,968 R144Q probably damaging Het
Mapk8ip3 T G 17: 24,899,719 probably benign Het
Mthfd1l T C 10: 3,978,708 V100A probably benign Het
Mthfd1l T C 10: 4,007,800 V279A probably benign Het
Mthfd1l T C 10: 4,032,345 probably benign Het
Mtrf1l A G 10: 5,814,180 probably benign Het
Myo18b T C 5: 112,809,747 E1450G probably damaging Het
Obscn C T 11: 59,128,069 V973M probably damaging Het
Olfr414 G A 1: 174,431,342 V305I probably benign Het
Oprm1 T C 10: 7,037,170 probably benign Het
Pou5f2 A G 13: 78,025,938 probably benign Het
Ralgapa2 G A 2: 146,410,193 H891Y probably benign Het
Ralgapa2 T G 2: 146,410,192 H806P probably benign Het
Trappc12 A C 12: 28,691,854 probably benign Het
Vip A G 10: 5,642,480 D40G probably benign Het
Vmn2r125 T A 4: 156,351,226 L300M probably benign Het
Vmn2r125 T C 4: 156,350,612 probably benign Het
Vmn2r125 C T 4: 156,351,038 T237I probably benign Het
Vmn2r125 A T 4: 156,351,037 T237S probably benign Het
Vmn2r125 A C 4: 156,350,900 Q191P probably benign Het
Vmn2r125 C A 4: 156,350,899 Q191K probably benign Het
Vmn2r125 A G 4: 156,350,845 N173D probably damaging Het
Vmn2r40 G A 7: 8,908,176 S706F probably damaging Het
Vmn2r-ps159 A T 4: 156,338,146 noncoding transcript Het
Vmn2r-ps159 C A 4: 156,338,435 noncoding transcript Het
Vmn2r-ps159 T C 4: 156,334,263 noncoding transcript Het
Vmn2r-ps159 T C 4: 156,335,590 noncoding transcript Het
Vmn2r-ps159 G A 4: 156,334,605 noncoding transcript Het
Zfp14 T A 7: 30,038,101 R486S probably damaging Het
Other mutations in Rmnd1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01018:Rmnd1 APN 10 4427290 missense probably benign 0.43
IGL01112:Rmnd1 APN 10 4410793 unclassified probably null
R0418:Rmnd1 UTSW 10 4427693 critical splice acceptor site probably null
R2036:Rmnd1 UTSW 10 4407884 missense probably damaging 1.00
R2312:Rmnd1 UTSW 10 4427466 missense probably benign
R2319:Rmnd1 UTSW 10 4422099 missense possibly damaging 0.62
R4191:Rmnd1 UTSW 10 4410809 unclassified probably benign
R5077:Rmnd1 UTSW 10 4427488 missense possibly damaging 0.66
R5620:Rmnd1 UTSW 10 4422159 missense probably damaging 1.00
R5659:Rmnd1 UTSW 10 4427382 missense probably benign 0.04
R6291:Rmnd1 UTSW 10 4422135 missense probably damaging 1.00
R7089:Rmnd1 UTSW 10 4403873 missense not run
X0026:Rmnd1 UTSW 10 4427676 start codon destroyed probably null 0.99
Posted On2013-06-28