Incidental Mutation 'IGL01374:Rmdn3'
ID 78642
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rmdn3
Ensembl Gene ENSMUSG00000070730
Gene Name regulator of microtubule dynamics 3
Synonyms Fam82a2, 1200015F23Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL01374
Quality Score
Status
Chromosome 2
Chromosomal Location 118967482-118987515 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 118984428 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 108 (V108A)
Ref Sequence ENSEMBL: ENSMUSP00000092283 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000094695] [ENSMUST00000129351] [ENSMUST00000135419] [ENSMUST00000139519]
AlphaFold Q3UJU9
Predicted Effect probably damaging
Transcript: ENSMUST00000094695
AA Change: V108A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000092283
Gene: ENSMUSG00000070730
AA Change: V108A

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 probably benign
Transcript: ENSMUST00000129351
SMART Domains Protein: ENSMUSP00000119498
Gene: ENSMUSG00000070730

DomainStartEndE-ValueType
transmembrane domain 10 32 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000135419
SMART Domains Protein: ENSMUSP00000123373
Gene: ENSMUSG00000070730

DomainStartEndE-ValueType
transmembrane domain 10 32 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000139519
SMART Domains Protein: ENSMUSP00000115973
Gene: ENSMUSG00000070730

DomainStartEndE-ValueType
transmembrane domain 10 32 N/A INTRINSIC
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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933402N03Rik T C 7: 130,747,830 (GRCm39) H54R probably benign Het
Acsl6 T C 11: 54,229,245 (GRCm39) V359A probably damaging Het
Aldh3a2 C T 11: 61,139,828 (GRCm39) V435I probably benign Het
Atm A T 9: 53,443,024 (GRCm39) S80T possibly damaging Het
Atp8b4 A T 2: 126,225,577 (GRCm39) probably benign Het
Atxn1 T C 13: 45,721,903 (GRCm39) probably benign Het
Chd3 T C 11: 69,250,806 (GRCm39) E641G probably damaging Het
Clpb T C 7: 101,422,335 (GRCm39) V346A probably damaging Het
Ctnnbl1 T A 2: 157,678,613 (GRCm39) probably null Het
Cyp2b19 C T 7: 26,458,504 (GRCm39) P73L probably benign Het
Dcc T C 18: 71,507,624 (GRCm39) Y916C probably damaging Het
Fat4 A G 3: 38,941,647 (GRCm39) N180S probably damaging Het
Foxi1 A C 11: 34,157,984 (GRCm39) C14G probably damaging Het
Fut4 G T 9: 14,662,786 (GRCm39) F169L probably benign Het
Grip1 T C 10: 119,885,273 (GRCm39) S748P probably benign Het
Hnrnpr T C 4: 136,054,729 (GRCm39) probably benign Het
Ifnz G A 4: 88,701,578 (GRCm39) probably benign Het
Krt28 A G 11: 99,262,294 (GRCm39) V232A probably benign Het
Lyar C A 5: 38,385,391 (GRCm39) probably null Het
Manba G A 3: 135,260,541 (GRCm39) W575* probably null Het
Morc3 T A 16: 93,641,101 (GRCm39) D44E probably damaging Het
Mrc2 T A 11: 105,238,469 (GRCm39) Y1205* probably null Het
Myh2 A T 11: 67,068,250 (GRCm39) T293S probably benign Het
Nlrp10 T A 7: 108,523,788 (GRCm39) K564I possibly damaging Het
Nuak1 A G 10: 84,210,532 (GRCm39) S519P probably damaging Het
Or12k5 T C 2: 36,894,942 (GRCm39) H228R probably benign Het
Or9m2 T C 2: 87,820,892 (GRCm39) F146L probably benign Het
Padi2 T A 4: 140,660,496 (GRCm39) N325K probably damaging Het
Pcdhb19 A T 18: 37,631,042 (GRCm39) Y279F probably damaging Het
Phldb1 A G 9: 44,607,464 (GRCm39) L1247P probably damaging Het
Slc22a5 A G 11: 53,758,490 (GRCm39) F437L probably benign Het
Slc3a2 C T 19: 8,690,701 (GRCm39) probably null Het
Slc5a3 T A 16: 91,874,006 (GRCm39) M21K probably benign Het
Spink5 T A 18: 44,122,471 (GRCm39) F312Y possibly damaging Het
Stab1 T C 14: 30,869,032 (GRCm39) Y1531C probably damaging Het
Tln2 C A 9: 67,169,205 (GRCm39) A433S probably damaging Het
Usp24 C T 4: 106,237,296 (GRCm39) L1076F possibly damaging Het
Vmn2r117 T C 17: 23,697,356 (GRCm39) Y112C possibly damaging Het
Vmn2r16 C T 5: 109,478,283 (GRCm39) L13F probably benign Het
Vmn2r76 T C 7: 85,874,857 (GRCm39) M707V probably benign Het
Zmym4 A T 4: 126,762,750 (GRCm39) F1358I probably damaging Het
Other mutations in Rmdn3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01684:Rmdn3 APN 2 118,978,055 (GRCm39) missense probably damaging 1.00
IGL02892:Rmdn3 APN 2 118,984,561 (GRCm39) missense probably benign 0.00
R0534:Rmdn3 UTSW 2 118,976,851 (GRCm39) missense probably benign 0.00
R1126:Rmdn3 UTSW 2 118,984,476 (GRCm39) missense probably benign 0.01
R2332:Rmdn3 UTSW 2 118,984,008 (GRCm39) unclassified probably benign
R3850:Rmdn3 UTSW 2 118,986,903 (GRCm39) missense possibly damaging 0.65
R5034:Rmdn3 UTSW 2 118,978,058 (GRCm39) missense probably damaging 1.00
R5221:Rmdn3 UTSW 2 118,986,935 (GRCm39) missense probably damaging 1.00
R5942:Rmdn3 UTSW 2 118,978,058 (GRCm39) missense probably damaging 1.00
R6049:Rmdn3 UTSW 2 118,983,906 (GRCm39) missense probably damaging 1.00
R6188:Rmdn3 UTSW 2 118,969,831 (GRCm39) critical splice donor site probably null
R7011:Rmdn3 UTSW 2 118,968,904 (GRCm39) missense probably damaging 1.00
R7181:Rmdn3 UTSW 2 118,969,849 (GRCm39) missense probably damaging 1.00
R8277:Rmdn3 UTSW 2 118,976,905 (GRCm39) missense probably damaging 1.00
R8721:Rmdn3 UTSW 2 118,969,846 (GRCm39) missense possibly damaging 0.87
R9144:Rmdn3 UTSW 2 118,969,847 (GRCm39) missense probably benign 0.21
R9172:Rmdn3 UTSW 2 118,968,863 (GRCm39) missense probably benign 0.00
R9317:Rmdn3 UTSW 2 118,986,991 (GRCm39) missense unknown
R9727:Rmdn3 UTSW 2 118,968,827 (GRCm39) critical splice donor site probably null
Posted On 2013-11-05