Incidental Mutation 'IGL00755:Rmdn1'
ID 12615
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rmdn1
Ensembl Gene ENSMUSG00000028229
Gene Name regulator of microtubule dynamics 1
Synonyms 5033415E11Rik, Fam82b, 6430576D04Rik, 2410005O16Rik, 5730501K14Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.095) question?
Stock # IGL00755
Quality Score
Status
Chromosome 4
Chromosomal Location 19575162-19606932 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 19580401 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Lysine at position 42 (N42K)
Ref Sequence ENSEMBL: ENSMUSP00000103888 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029888] [ENSMUST00000108253]
AlphaFold Q9DCV4
Predicted Effect probably benign
Transcript: ENSMUST00000029888
AA Change: N42K

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000029888
Gene: ENSMUSG00000028229
AA Change: N42K

DomainStartEndE-ValueType
low complexity region 3 15 N/A INTRINSIC
SCOP:d1a17__ 140 281 2e-8 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000108253
AA Change: N42K

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000103888
Gene: ENSMUSG00000028229
AA Change: N42K

DomainStartEndE-ValueType
low complexity region 3 15 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 21 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 A G 11: 9,492,102 (GRCm39) Y4381C possibly damaging Het
Card6 G A 15: 5,128,423 (GRCm39) T991I possibly damaging Het
Cd163 A G 6: 124,295,616 (GRCm39) N684S possibly damaging Het
Cep290 A G 10: 100,366,966 (GRCm39) T1106A probably damaging Het
Cplx4 T A 18: 66,090,166 (GRCm39) probably benign Het
Crygd C T 1: 65,101,250 (GRCm39) R115Q probably benign Het
Dnah6 A T 6: 73,189,417 (GRCm39) probably null Het
Dock8 A G 19: 25,028,873 (GRCm39) K26E probably benign Het
Fancl G A 11: 26,420,916 (GRCm39) V349I probably benign Het
Gsg1l A G 7: 125,522,598 (GRCm39) F210S possibly damaging Het
Mboat2 T A 12: 25,007,645 (GRCm39) V419E probably benign Het
Mycbp2 A G 14: 103,432,057 (GRCm39) V2327A possibly damaging Het
Ndnf C T 6: 65,680,242 (GRCm39) P174S probably damaging Het
Nlrp9b A T 7: 19,757,447 (GRCm39) D228V probably damaging Het
Prps2 A T X: 166,157,138 (GRCm39) I56N possibly damaging Het
Reln A G 5: 22,265,378 (GRCm39) V438A probably damaging Het
Sass6 G A 3: 116,411,977 (GRCm39) E312K probably damaging Het
Scrn1 T A 6: 54,497,694 (GRCm39) D299V possibly damaging Het
Slk T A 19: 47,597,449 (GRCm39) C86S probably damaging Het
Veph1 C T 3: 66,162,431 (GRCm39) E76K probably damaging Het
Zfp282 C T 6: 47,857,324 (GRCm39) P186S probably damaging Het
Other mutations in Rmdn1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00702:Rmdn1 APN 4 19,605,421 (GRCm39) missense probably damaging 1.00
IGL00816:Rmdn1 APN 4 19,595,119 (GRCm39) missense probably benign 0.00
IGL02547:Rmdn1 APN 4 19,605,501 (GRCm39) missense possibly damaging 0.79
R5027:Rmdn1 UTSW 4 19,588,533 (GRCm39) nonsense probably null
R7341:Rmdn1 UTSW 4 19,586,837 (GRCm39) nonsense probably null
R8231:Rmdn1 UTSW 4 19,586,853 (GRCm39) missense probably benign 0.00
R8311:Rmdn1 UTSW 4 19,575,329 (GRCm39) critical splice donor site probably null
R9225:Rmdn1 UTSW 4 19,601,385 (GRCm39) missense probably damaging 1.00
R9592:Rmdn1 UTSW 4 19,599,660 (GRCm39) missense possibly damaging 0.56
Posted On 2012-12-06