Incidental Mutation 'R9592:Rmdn1'
ID 723034
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
Accession Numbers
Essential gene? Probably non essential (E-score: 0.095) question?
Stock # R9592 (G1)
Quality Score 225.009
Status Not validated
Chromosome 4
Chromosomal Location 19575162-19606932 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 19599660 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Threonine at position 206 (M206T)
Ref Sequence ENSEMBL: ENSMUSP00000029888 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029888] [ENSMUST00000108253]
AlphaFold Q9DCV4
Predicted Effect possibly damaging
Transcript: ENSMUST00000029888
AA Change: M206T

PolyPhen 2 Score 0.556 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000029888
Gene: ENSMUSG00000028229
AA Change: M206T

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: 99.8%
  • 20x: 99.3%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aasdhppt G T 9: 4,309,312 (GRCm39) P42Q probably benign Het
Adat1 G T 8: 112,709,314 (GRCm39) P170T probably benign Het
Ap4e1 A G 2: 126,903,588 (GRCm39) D830G probably benign Het
Apc T A 18: 34,443,823 (GRCm39) C605* probably null Het
Atp2b4 A G 1: 133,659,568 (GRCm39) S465P probably damaging Het
Bnip3l G A 14: 67,246,214 (GRCm39) P7L possibly damaging Het
Cdhr3 A G 12: 33,136,007 (GRCm39) S78P possibly damaging Het
Ckap4 G A 10: 84,364,175 (GRCm39) T296M probably damaging Het
Cyp11a1 G A 9: 57,925,605 (GRCm39) R182H possibly damaging Het
Fem1b A T 9: 62,704,959 (GRCm39) H100Q probably damaging Het
Gm5464 T A 14: 67,106,366 (GRCm39) M1K probably null Het
Igkv12-41 G A 6: 69,835,579 (GRCm39) Q58* probably null Het
Kcnq2 T C 2: 180,728,813 (GRCm39) Y572C probably damaging Het
Krt87 T C 15: 101,386,060 (GRCm39) T234A probably benign Het
Ksr2 G A 5: 117,894,344 (GRCm39) G828S probably damaging Het
Megf8 C T 7: 25,028,228 (GRCm39) T264M probably benign Het
Myof A T 19: 38,031,737 (GRCm39) I12N probably damaging Het
Nsd1 T G 13: 55,424,355 (GRCm39) D1467E probably damaging Het
Nsrp1 A T 11: 76,940,104 (GRCm39) L167Q probably damaging Het
Nsun4 A T 4: 115,908,852 (GRCm39) H569Q possibly damaging Het
Or51q1 T C 7: 103,629,179 (GRCm39) V260A possibly damaging Het
Or5b105 A G 19: 13,079,906 (GRCm39) I254T probably benign Het
Pcdha7 A T 18: 37,109,045 (GRCm39) D690V probably benign Het
Pcdhb2 G A 18: 37,429,266 (GRCm39) R56Q probably damaging Het
Pcsk5 G T 19: 17,652,899 (GRCm39) Y262* probably null Het
Pdzd2 G C 15: 12,458,106 (GRCm39) N78K probably damaging Het
Pglyrp3 T C 3: 91,938,859 (GRCm39) F345L probably benign Het
Pnp2 T A 14: 51,196,979 (GRCm39) Y22N probably damaging Het
Pnp2 C A 14: 51,196,981 (GRCm39) Y22* probably null Het
Prr27 C A 5: 87,990,994 (GRCm39) P202Q probably benign Het
Rnf166 A T 8: 123,197,048 (GRCm39) L68Q probably benign Het
Rsf1 CGGCGGCGG CGGCGGCGGGGGCGGCGG 7: 97,229,118 (GRCm39) probably benign Het
Scin C T 12: 40,131,746 (GRCm39) V263I probably benign Het
Secisbp2l C A 2: 125,582,561 (GRCm39) R965L probably damaging Het
Senp2 G A 16: 21,845,435 (GRCm39) R223Q possibly damaging Het
Siglecf C A 7: 43,001,696 (GRCm39) P169T probably damaging Het
Smpdl3b G A 4: 132,484,438 (GRCm39) probably benign Het
Syt2 G A 1: 134,671,773 (GRCm39) V184I possibly damaging Het
Tecta G T 9: 42,250,238 (GRCm39) N1851K probably damaging Het
Thbs2 A T 17: 14,899,083 (GRCm39) S672R probably damaging Het
Tmtc4 T C 14: 123,170,815 (GRCm39) H485R probably damaging Het
Tns1 A T 1: 74,029,553 (GRCm39) S307R probably damaging Het
Usp15 C A 10: 122,999,522 (GRCm39) W220L probably damaging Het
Zfp64 A T 2: 168,768,118 (GRCm39) V498E probably damaging Het
Zfp820 G T 17: 22,038,577 (GRCm39) S250R probably benign Het
Zfr2 A T 10: 81,069,580 (GRCm39) N2I unknown 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
R8311:Rmdn1 UTSW 4 19,575,329 (GRCm39) critical splice donor site probably null
R9225:Rmdn1 UTSW 4 19,601,385 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TTACAACGCGTGTTTGTGAC -3'
(R):5'- CATACACAGGTGCTATTTCACG -3'

Sequencing Primer
(F):5'- CCAAATTAGGTGCAACTGCCTGTG -3'
(R):5'- ACAGGTGCTATTTCACGATTTAATAC -3'
Posted On 2022-08-09