Incidental Mutation 'IGL00702:Rmdn1'
ID10676
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 #IGL00702
Quality Score
Status
Chromosome4
Chromosomal Location19575162-19606932 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 19605421 bp
ZygosityHeterozygous
Amino Acid Change Serine to Asparagine at position 255 (S255N)
Ref Sequence ENSEMBL: ENSMUSP00000029888 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029888] [ENSMUST00000035982] [ENSMUST00000108246] [ENSMUST00000108250]
Predicted Effect probably damaging
Transcript: ENSMUST00000029888
AA Change: S255N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000029888
Gene: ENSMUSG00000028229
AA Change: S255N

DomainStartEndE-ValueType
low complexity region 3 15 N/A INTRINSIC
SCOP:d1a17__ 140 281 2e-8 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000035982
SMART Domains Protein: ENSMUSP00000041627
Gene: ENSMUSG00000041058

DomainStartEndE-ValueType
C2 19 113 4.19e-9 SMART
low complexity region 221 232 N/A INTRINSIC
low complexity region 266 286 N/A INTRINSIC
WW 346 378 1.03e-14 SMART
WW 379 410 7.43e-12 SMART
WW 453 485 1.43e-13 SMART
WW 493 525 6.82e-11 SMART
HECTc 582 918 4.83e-177 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000108246
SMART Domains Protein: ENSMUSP00000103881
Gene: ENSMUSG00000041058

DomainStartEndE-ValueType
C2 19 113 4.19e-9 SMART
low complexity region 221 232 N/A INTRINSIC
low complexity region 266 286 N/A INTRINSIC
WW 346 378 1.03e-14 SMART
WW 379 410 7.43e-12 SMART
WW 453 485 1.43e-13 SMART
WW 493 525 6.82e-11 SMART
HECTc 582 918 4.83e-177 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000108250
SMART Domains Protein: ENSMUSP00000103885
Gene: ENSMUSG00000078772

DomainStartEndE-ValueType
low complexity region 31 48 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 8 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Atm A G 9: 53,511,831 V665A probably benign Het
Fastkd1 C T 2: 69,708,545 V166I probably damaging Het
Hsdl2 A G 4: 59,596,892 K57R probably benign Het
Krt39 T G 11: 99,519,063 Q216P probably damaging Het
Lifr T C 15: 7,185,739 probably null Het
Ppp3cb A G 14: 20,528,250 V144A probably benign Het
Rsph4a A T 10: 33,913,072 N638Y probably damaging Het
Ugt2b5 A T 5: 87,125,219 N529K probably benign Het
Other mutations in Rmdn1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00755:Rmdn1 APN 4 19580401 missense probably benign 0.01
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