Incidental Mutation 'IGL00755:Rmdn1'
ID12615
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rmdn1
Ensembl Gene ENSMUSG00000028229
Gene Nameregulator of microtubule dynamics 1
Synonyms5730501K14Rik, 2410005O16Rik, 5033415E11Rik, Fam82b, 6430576D04Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.102) question?
Stock #IGL00755
Quality Score
Status
Chromosome4
Chromosomal Location19575162-19606932 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 19580401 bp
ZygosityHeterozygous
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]
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: 9,542,102 Y4381C possibly damaging Het
Card6 G A 15: 5,098,941 T991I possibly damaging Het
Cd163 A G 6: 124,318,657 N684S possibly damaging Het
Cep290 A G 10: 100,531,104 T1106A probably damaging Het
Cplx4 T A 18: 65,957,095 probably benign Het
Crygd C T 1: 65,062,091 R115Q probably benign Het
Dnah6 A T 6: 73,212,434 probably null Het
Dock8 A G 19: 25,051,509 K26E probably benign Het
Fancl G A 11: 26,470,916 V349I probably benign Het
Gsg1l A G 7: 125,923,426 F210S possibly damaging Het
Mboat2 T A 12: 24,957,646 V419E probably benign Het
Mycbp2 A G 14: 103,194,621 V2327A possibly damaging Het
Ndnf C T 6: 65,703,258 P174S probably damaging Het
Nlrp9b A T 7: 20,023,522 D228V probably damaging Het
Prps2 A T X: 167,374,142 I56N possibly damaging Het
Reln A G 5: 22,060,380 V438A probably damaging Het
Sass6 G A 3: 116,618,328 E312K probably damaging Het
Scrn1 T A 6: 54,520,709 D299V possibly damaging Het
Slk T A 19: 47,609,010 C86S probably damaging Het
Veph1 C T 3: 66,255,010 E76K probably damaging Het
Zfp282 C T 6: 47,880,390 P186S probably damaging Het
Other mutations in Rmdn1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00702:Rmdn1 APN 4 19605421 missense probably damaging 1.00
IGL00816:Rmdn1 APN 4 19595119 missense probably benign 0.00
IGL02547:Rmdn1 APN 4 19605501 missense possibly damaging 0.79
R5027:Rmdn1 UTSW 4 19588533 nonsense probably null
R7341:Rmdn1 UTSW 4 19586837 nonsense probably null
R8231:Rmdn1 UTSW 4 19586853 missense probably benign 0.00
R8311:Rmdn1 UTSW 4 19575329 critical splice donor site probably null
Posted On2012-12-06