Incidental Mutation 'R3850:Rmdn3'
ID275856
Institutional Source Beutler Lab
Gene Symbol Rmdn3
Ensembl Gene ENSMUSG00000070730
Gene Nameregulator of microtubule dynamics 3
Synonyms
MMRRC Submission 040898-MU
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #R3850 (G1)
Quality Score225
Status Validated
Chromosome2
Chromosomal Location119137001-119157034 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 119156422 bp
ZygosityHeterozygous
Amino Acid Change Histidine to Glutamine at position 41 (H41Q)
Ref Sequence ENSEMBL: ENSMUSP00000123373 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000094695] [ENSMUST00000129351] [ENSMUST00000135419] [ENSMUST00000139519]
Predicted Effect possibly damaging
Transcript: ENSMUST00000094695
AA Change: H41Q

PolyPhen 2 Score 0.655 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000092283
Gene: ENSMUSG00000070730
AA Change: H41Q

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 unknown
Transcript: ENSMUST00000129351
AA Change: H41Q
SMART Domains Protein: ENSMUSP00000119498
Gene: ENSMUSG00000070730
AA Change: H41Q

DomainStartEndE-ValueType
transmembrane domain 10 32 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000135419
AA Change: H41Q

PolyPhen 2 Score 0.655 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000123373
Gene: ENSMUSG00000070730
AA Change: H41Q

DomainStartEndE-ValueType
transmembrane domain 10 32 N/A INTRINSIC
Predicted Effect unknown
Transcript: ENSMUST00000139519
AA Change: H41Q
SMART Domains Protein: ENSMUSP00000115973
Gene: ENSMUSG00000070730
AA Change: H41Q

DomainStartEndE-ValueType
transmembrane domain 10 32 N/A INTRINSIC
Meta Mutation Damage Score 0.0660 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.6%
  • 20x: 96.0%
Validation Efficiency 100% (59/59)
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: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700066B19Rik G A 18: 35,728,714 V84I probably benign Het
Abca1 C T 4: 53,061,481 probably benign Het
Abcc5 A T 16: 20,372,156 S815T probably benign Het
Adamts17 T A 7: 66,840,467 L99Q possibly damaging Het
Adamtsl1 A T 4: 86,418,546 Q1564L probably damaging Het
Als2cl A G 9: 110,889,309 probably benign Het
Antxrl C A 14: 34,067,381 H309Q probably benign Het
Ap1g2 T C 14: 55,104,906 M165V probably benign Het
Cacna2d3 A G 14: 29,347,120 probably null Het
Cdh16 T C 8: 104,617,841 D22G possibly damaging Het
Cdh17 A G 4: 11,785,201 D331G probably damaging Het
Csmd1 C G 8: 16,079,922 V1729L probably benign Het
Cul5 T G 9: 53,617,986 M800L probably benign Het
Cwf19l1 T C 19: 44,131,498 Y68C probably benign Het
Dst C T 1: 34,189,274 Q1658* probably null Het
Dst C T 1: 34,212,319 S4165F probably damaging Het
Fan1 T C 7: 64,372,371 Y378C probably damaging Het
Fat4 T A 3: 39,007,261 V4331D probably benign Het
Fbxl8 T C 8: 105,267,149 S46P probably benign Het
Golgb1 C A 16: 36,898,733 Q334K probably benign Het
Hoxc10 T C 15: 102,967,444 V196A probably benign Het
Hsf4 T C 8: 105,270,837 F101L probably damaging Het
Hydin T C 8: 110,563,929 I3340T probably damaging Het
Igfbpl1 C T 4: 45,826,426 R123H probably benign Het
Mov10l1 A T 15: 89,005,695 probably null Het
Mrc2 T C 11: 105,292,903 probably null Het
Muc5b G A 7: 141,862,638 C3107Y possibly damaging Het
Naip2 A T 13: 100,179,432 L280Q probably damaging Het
Naip2 G C 13: 100,179,433 L280V probably damaging Het
Nek1 T A 8: 61,072,315 F596I probably damaging Het
Nfasc T C 1: 132,631,733 T214A probably damaging Het
Olfr1107 T A 2: 87,071,966 H56L possibly damaging Het
Olfr1245 T C 2: 89,575,034 R231G probably damaging Het
Olfr77 A T 9: 19,920,809 Y200F probably damaging Het
Pcdhga10 C T 18: 37,749,021 P612S probably damaging Het
Picalm A G 7: 90,191,704 N456S probably damaging Het
Pigo A G 4: 43,025,084 F5S probably benign Het
Pikfyve T C 1: 65,230,845 F563S probably damaging Het
Plod2 A G 9: 92,542,545 E29G probably benign Het
Pm20d2 A G 4: 33,174,414 V403A probably damaging Het
Proz A G 8: 13,073,533 E268G probably benign Het
Rb1cc1 T A 1: 6,250,113 V1252D probably benign Het
Rimbp3 A T 16: 17,210,299 H529L probably benign Het
Rnf17 T C 14: 56,512,296 V1433A probably damaging Het
Ror1 A G 4: 100,442,160 Y910C possibly damaging Het
Scn2a C T 2: 65,682,031 L171F probably benign Het
Sh3pxd2b A G 11: 32,411,505 E239G probably damaging Het
Snx27 G T 3: 94,520,235 T311K probably benign Het
Sspo T A 6: 48,492,490 L4459Q probably damaging Het
Syne2 T C 12: 76,048,622 L5241P probably damaging Het
Tas2r110 T A 6: 132,868,675 I223N probably damaging Het
Tead2 T A 7: 45,232,328 probably null Het
Thap12 G T 7: 98,716,663 K679N probably damaging Het
Vmn2r65 T A 7: 84,946,651 H275L probably benign Het
Wfs1 C A 5: 36,968,624 V308L probably benign Het
Zfp229 C A 17: 21,745,862 H358N probably damaging Het
Zfp687 T C 3: 95,007,914 D1092G probably damaging Het
Other mutations in Rmdn3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01374:Rmdn3 APN 2 119153947 missense probably damaging 1.00
IGL01684:Rmdn3 APN 2 119147574 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
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
Predicted Primers PCR Primer
(F):5'- GAGGAAAGGGCACAGCTTTC -3'
(R):5'- AGGTTGTCACGTACAGGGTG -3'

Sequencing Primer
(F):5'- AAAGGGCACAGCTTTCCTTTTTG -3'
(R):5'- TGGCTAACGGGTTCTGCCTC -3'
Posted On2015-04-06