Incidental Mutation 'IGL01684:Rmdn3'
ID103885
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rmdn3
Ensembl Gene ENSMUSG00000070730
Gene Nameregulator of microtubule dynamics 3
Synonyms
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL01684
Quality Score
Status
Chromosome2
Chromosomal Location119137001-119157034 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 119147574 bp
ZygosityHeterozygous
Amino Acid Change Glutamic Acid to Glycine at position 182 (E182G)
Ref Sequence ENSEMBL: ENSMUSP00000092283 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000094695]
Predicted Effect probably damaging
Transcript: ENSMUST00000094695
AA Change: E182G

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000092283
Gene: ENSMUSG00000070730
AA Change: E182G

DomainStartEndE-ValueType
transmembrane domain 13 35 N/A INTRINSIC
coiled coil region 91 122 N/A INTRINSIC
low complexity region 135 148 N/A INTRINSIC
low complexity region 216 234 N/A INTRINSIC
SCOP:d1hxia_ 354 445 1e-7 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000130249
Predicted Effect probably benign
Transcript: ENSMUST00000151406
SMART Domains Protein: ENSMUSP00000117939
Gene: ENSMUSG00000027323

DomainStartEndE-ValueType
Pfam:Rad51 1 196 5.4e-103 PFAM
Pfam:AAA_25 2 152 1.9e-10 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156332
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Phenotypic analysis of mice homozygous for a gene trap allele indicates this mutation has no notable phenotype in any parameter tested. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ammecr1l G T 18: 31,771,768 V21F probably damaging Het
Aox1 G A 1: 58,077,581 probably null Het
BC024139 A G 15: 76,124,685 L283P probably damaging Het
Cacna1h C T 17: 25,388,716 G876S probably damaging Het
Ccdc66 T C 14: 27,500,249 E179G possibly damaging Het
Ckap5 T G 2: 91,555,354 D182E probably benign Het
Clk1 A G 1: 58,417,265 probably null Het
Dhx34 G A 7: 16,203,279 T831M probably damaging Het
Enox1 T C 14: 77,579,093 I171T possibly damaging Het
Fscn2 G A 11: 120,367,305 R351H probably damaging Het
Gabbr2 G A 4: 46,736,501 S460L probably benign Het
Gramd1a A G 7: 31,138,905 S308P possibly damaging Het
Guca1a T C 17: 47,395,143 D137G probably null Het
Heatr5a G A 12: 51,955,511 T214I probably benign Het
Klf7 T C 1: 64,120,892 probably benign Het
Macf1 A G 4: 123,465,930 S1854P probably damaging Het
Mau2 A T 8: 70,029,245 probably benign Het
Mdn1 A G 4: 32,726,857 I2639V probably benign Het
Mylk A G 16: 34,971,940 M1544V possibly damaging Het
Ogdh G T 11: 6,342,546 V420L probably damaging Het
Olfr1458 A G 19: 13,102,989 F105S possibly damaging Het
Olfr532 T C 7: 140,418,915 N286S probably damaging Het
Pcm1 A G 8: 41,257,923 T77A probably benign Het
Piezo2 T A 18: 63,083,170 I947F probably damaging Het
Prrc2c A T 1: 162,706,462 probably benign Het
Ptch2 A G 4: 117,104,787 E107G probably damaging Het
Rpl23a-ps3 C T 14: 34,170,788 noncoding transcript Het
Sorl1 T C 9: 41,980,711 D1881G probably damaging Het
Tbc1d19 A G 5: 53,856,879 N283S probably benign Het
Tcf20 A G 15: 82,857,160 F30S probably damaging Het
Tiparp A T 3: 65,553,333 K581I probably damaging Het
Tle3 T C 9: 61,403,446 probably benign Het
Ubr3 C A 2: 70,016,158 Y1608* probably null Het
Vmn1r59 T C 7: 5,454,300 T154A probably benign Het
Vta1 A G 10: 14,684,131 I115T probably damaging Het
Wwtr1 C A 3: 57,575,789 R31L probably damaging Het
Zfp385b T C 2: 77,719,675 D22G possibly damaging Het
Zfp516 A G 18: 82,957,201 E508G probably damaging Het
Zfp735 T A 11: 73,690,365 V76E possibly damaging Het
Other mutations in Rmdn3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01374:Rmdn3 APN 2 119153947 missense probably damaging 1.00
IGL02892:Rmdn3 APN 2 119154080 missense probably benign 0.00
R0534:Rmdn3 UTSW 2 119146370 missense probably benign 0.00
R1126:Rmdn3 UTSW 2 119153995 missense probably benign 0.01
R2332:Rmdn3 UTSW 2 119153527 unclassified probably benign
R3850:Rmdn3 UTSW 2 119156422 missense possibly damaging 0.65
R5034:Rmdn3 UTSW 2 119147577 missense probably damaging 1.00
R5221:Rmdn3 UTSW 2 119156454 missense probably damaging 1.00
R5942:Rmdn3 UTSW 2 119147577 missense probably damaging 1.00
R6049:Rmdn3 UTSW 2 119153425 missense probably damaging 1.00
R6188:Rmdn3 UTSW 2 119139350 critical splice donor site probably null
R7011:Rmdn3 UTSW 2 119138423 missense probably damaging 1.00
R7181:Rmdn3 UTSW 2 119139368 missense probably damaging 1.00
R8277:Rmdn3 UTSW 2 119146424 missense probably damaging 1.00
R8721:Rmdn3 UTSW 2 119139365 missense possibly damaging 0.87
Posted On2014-01-21