Incidental Mutation 'R8311:Rmdn1'
ID 641366
Institutional Source Beutler Lab
Gene Symbol Rmdn1
Ensembl Gene ENSMUSG00000028229
Gene Name regulator of microtubule dynamics 1
Synonyms 5033415E11Rik, Fam82b, 6430576D04Rik, 2410005O16Rik, 5730501K14Rik
MMRRC Submission 067796-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.106) question?
Stock # R8311 (G1)
Quality Score 225.009
Status Validated
Chromosome 4
Chromosomal Location 19575162-19606932 bp(+) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) T to C at 19575329 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000029888 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029888] [ENSMUST00000029888] [ENSMUST00000108253]
AlphaFold Q9DCV4
Predicted Effect probably null
Transcript: ENSMUST00000029888
SMART Domains Protein: ENSMUSP00000029888
Gene: ENSMUSG00000028229

DomainStartEndE-ValueType
low complexity region 3 15 N/A INTRINSIC
SCOP:d1a17__ 140 281 2e-8 SMART
Predicted Effect probably null
Transcript: ENSMUST00000029888
SMART Domains Protein: ENSMUSP00000029888
Gene: ENSMUSG00000028229

DomainStartEndE-ValueType
low complexity region 3 15 N/A INTRINSIC
SCOP:d1a17__ 140 281 2e-8 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000108253
SMART Domains Protein: ENSMUSP00000103888
Gene: ENSMUSG00000028229

DomainStartEndE-ValueType
low complexity region 3 15 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.8%
Validation Efficiency 100% (53/53)
Allele List at MGI
Other mutations in this stock
Total: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2700049A03Rik A G 12: 71,184,815 (GRCm39) probably benign Het
4930407I10Rik T C 15: 81,947,440 (GRCm39) W446R possibly damaging Het
Aldh1l2 T A 10: 83,326,479 (GRCm39) E912D probably damaging Het
Apol9a T C 15: 77,289,220 (GRCm39) D49G possibly damaging Het
Bnc2 A T 4: 84,194,582 (GRCm39) D847E possibly damaging Het
Ccdc91 A G 6: 147,437,114 (GRCm39) N100S possibly damaging Het
Copb2 G T 9: 98,450,072 (GRCm39) K10N possibly damaging Het
Cyp4a14 A G 4: 115,348,275 (GRCm39) S401P probably damaging Het
Cyp4f15 A T 17: 32,916,914 (GRCm39) Q277L probably benign Het
Dmxl2 A T 9: 54,354,217 (GRCm39) S410T probably benign Het
Dnah9 T C 11: 65,880,644 (GRCm39) N2651S probably benign Het
Efhb A G 17: 53,720,489 (GRCm39) probably null Het
Eif4ebp1 T A 8: 27,765,124 (GRCm39) F113L probably damaging Het
Emilin2 C G 17: 71,562,141 (GRCm39) D954H probably damaging Het
Eng A G 2: 32,569,005 (GRCm39) T511A probably benign Het
Eps8l1 A G 7: 4,474,817 (GRCm39) D266G probably damaging Het
Fam120a T C 13: 49,087,433 (GRCm39) H309R possibly damaging Het
Gga3 A T 11: 115,477,834 (GRCm39) S585T probably benign Het
Gm12117 T C 11: 33,226,126 (GRCm39) Q70R probably damaging Het
Gpr158 A G 2: 21,373,701 (GRCm39) H212R probably benign Het
Hmgb1 A G 5: 148,987,427 (GRCm39) F41L possibly damaging Het
Iqcm T A 8: 76,480,118 (GRCm39) probably benign Het
Itgav T A 2: 83,596,121 (GRCm39) I214N probably damaging Het
Kcna1 T A 6: 126,619,255 (GRCm39) H355L probably benign Het
Lrrc37a C T 11: 103,394,247 (GRCm39) V393I probably benign Het
Mak16 T C 8: 31,658,697 (GRCm39) D4G probably damaging Het
Metap2 C T 10: 93,697,384 (GRCm39) R432H possibly damaging Het
Nlrc4 G A 17: 74,753,540 (GRCm39) T281M probably damaging Het
Ntrk1 T A 3: 87,688,870 (GRCm39) Q561L probably damaging Het
Or10ak7 A C 4: 118,791,347 (GRCm39) S231A probably damaging Het
Or10w3 A G 19: 13,704,035 (GRCm39) T137A possibly damaging Het
Pira1 T C 7: 3,739,482 (GRCm39) D462G probably benign Het
Polr2a T C 11: 69,628,282 (GRCm39) I1304V probably null Het
Ppp4r2 T C 6: 100,843,343 (GRCm39) S354P probably benign Het
Ptchd3 A G 11: 121,727,299 (GRCm39) H391R possibly damaging Het
Rchy1 T C 5: 92,099,762 (GRCm39) D192G probably damaging Het
Rp1 T A 1: 4,418,572 (GRCm39) I847L probably benign Het
Rtn1 T C 12: 72,350,838 (GRCm39) E457G probably damaging Het
Serpind1 G A 16: 17,160,730 (GRCm39) S420N possibly damaging Het
Sirpa T C 2: 129,458,143 (GRCm39) V253A probably damaging Het
Snapc4 A T 2: 26,268,546 (GRCm39) F38L probably benign Het
Spata31g1 T C 4: 42,973,169 (GRCm39) V834A probably benign Het
Srcap T C 7: 127,156,969 (GRCm39) F2321S probably damaging Het
Stat4 A T 1: 52,142,075 (GRCm39) I641F probably damaging Het
Tmem216 A T 19: 10,529,191 (GRCm39) F65Y probably benign Het
Tmem37 C T 1: 119,995,982 (GRCm39) V32M possibly damaging Het
Tmprss11c T G 5: 86,383,412 (GRCm39) Q338P probably damaging Het
Tonsl C T 15: 76,517,463 (GRCm39) S752N probably benign Het
Vmn1r26 T C 6: 57,985,518 (GRCm39) K224E probably benign Het
Vps13b T A 15: 35,887,100 (GRCm39) V3229D probably benign Het
Vwa5b2 C T 16: 20,409,972 (GRCm39) R21W probably damaging Het
Wdr37 T C 13: 8,903,609 (GRCm39) R165G unknown Het
Yars2 T C 16: 16,125,147 (GRCm39) F388L probably benign Het
Ykt6 T A 11: 5,912,366 (GRCm39) D106E probably benign Het
Zc3h12a A C 4: 125,020,788 (GRCm39) S18R possibly damaging Het
Other mutations in Rmdn1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00702:Rmdn1 APN 4 19,605,421 (GRCm39) missense probably damaging 1.00
IGL00755:Rmdn1 APN 4 19,580,401 (GRCm39) missense probably benign 0.01
IGL00816:Rmdn1 APN 4 19,595,119 (GRCm39) missense probably benign 0.00
IGL02547:Rmdn1 APN 4 19,605,501 (GRCm39) missense possibly damaging 0.79
R5027:Rmdn1 UTSW 4 19,588,533 (GRCm39) nonsense probably null
R7341:Rmdn1 UTSW 4 19,586,837 (GRCm39) nonsense probably null
R8231:Rmdn1 UTSW 4 19,586,853 (GRCm39) missense probably benign 0.00
R9225:Rmdn1 UTSW 4 19,601,385 (GRCm39) missense probably damaging 1.00
R9592:Rmdn1 UTSW 4 19,599,660 (GRCm39) missense possibly damaging 0.56
Predicted Primers PCR Primer
(F):5'- GTTTTGTCAGGTCCTCCAGC -3'
(R):5'- AGAGACGGTCGACTTTCTCAAAAC -3'

Sequencing Primer
(F):5'- TCCAGCGCGTCGTCAGTC -3'
(R):5'- GTCGACTTTCTCAAAACGGTCAAAG -3'
Posted On 2020-07-28