Incidental Mutation 'R1253:Ormdl1'
ID 151827
Institutional Source Beutler Lab
Gene Symbol Ormdl1
Ensembl Gene ENSMUSG00000026097
Gene Name ORM1-like 1 (S. cerevisiae)
Synonyms C730042F17Rik
MMRRC Submission 039320-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.130) question?
Stock # R1253 (G1)
Quality Score 225
Status Not validated
Chromosome 1
Chromosomal Location 53336254-53349404 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 53344681 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Lysine at position 81 (R81K)
Ref Sequence ENSEMBL: ENSMUSP00000141087 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027266] [ENSMUST00000190734]
AlphaFold Q921I0
Predicted Effect possibly damaging
Transcript: ENSMUST00000027266
AA Change: R81K

PolyPhen 2 Score 0.810 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000027266
Gene: ENSMUSG00000026097
AA Change: R81K

DomainStartEndE-ValueType
Pfam:ORMDL 11 146 2.3e-56 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135746
Predicted Effect possibly damaging
Transcript: ENSMUST00000190734
AA Change: R81K

PolyPhen 2 Score 0.953 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000141087
Gene: ENSMUSG00000100679
AA Change: R81K

DomainStartEndE-ValueType
Pfam:ORMDL 11 123 4.4e-38 PFAM
Pfam:Peptidase_M22 174 233 3.9e-14 PFAM
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.2%
  • 10x: 95.8%
  • 20x: 91.0%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actg2 G A 6: 83,499,869 (GRCm39) T127I probably damaging Het
Aph1b T A 9: 66,697,931 (GRCm39) K102* probably null Het
Caskin1 A G 17: 24,724,047 (GRCm39) K945R probably damaging Het
Ccdc137 C A 11: 120,349,005 (GRCm39) A12E probably benign Het
Cdhr1 A G 14: 36,801,582 (GRCm39) M787T probably benign Het
Cic T A 7: 24,990,373 (GRCm39) V1958E probably damaging Het
Col6a6 T A 9: 105,651,502 (GRCm39) I1170F probably null Het
Cyp2c54 T A 19: 40,034,629 (GRCm39) Y347F probably damaging Het
Kntc1 AGTGT AGT 5: 123,948,925 (GRCm39) probably null Het
Large1 T C 8: 73,775,050 (GRCm39) Y220C probably damaging Het
Macf1 A T 4: 123,351,760 (GRCm39) D1592E probably damaging Het
Mtus2 C T 5: 148,240,380 (GRCm39) Q76* probably null Het
Olfm3 A T 3: 114,916,418 (GRCm39) D450V probably damaging Het
Or1l4b T A 2: 37,036,884 (GRCm39) V220D possibly damaging Het
Or4k6 A G 14: 50,475,581 (GRCm39) C254R probably damaging Het
Or5ae1 T A 7: 84,565,917 (GRCm39) I310K probably benign Het
Pcdhb12 G A 18: 37,568,874 (GRCm39) V7I possibly damaging Het
Ptprt A G 2: 162,120,146 (GRCm39) I107T probably damaging Het
Rbm27 A C 18: 42,434,839 (GRCm39) D301A probably damaging Het
Rexo2 A T 9: 48,380,232 (GRCm39) I200N probably damaging Het
Rtn4ip1 A T 10: 43,786,867 (GRCm39) I192L probably benign Het
Serpinb9e T C 13: 33,439,102 (GRCm39) F176S possibly damaging Het
Sorcs3 C A 19: 48,195,175 (GRCm39) A186E possibly damaging Het
Spata31 A G 13: 65,069,838 (GRCm39) Y662C probably benign Het
Sphkap G A 1: 83,256,619 (GRCm39) P377S possibly damaging Het
Srrt T C 5: 137,298,598 (GRCm39) K222R probably benign Het
Tas2r129 T C 6: 132,928,999 (GRCm39) I312T probably benign Het
Thbs4 G T 13: 92,913,413 (GRCm39) P169Q probably benign Het
Tmtc3 T C 10: 100,287,252 (GRCm39) M515V probably benign Het
Ugcg C T 4: 59,207,798 (GRCm39) P46S probably benign Het
Vmn2r92 T A 17: 18,387,028 (GRCm39) N122K probably benign Het
Other mutations in Ormdl1
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0031:Ormdl1 UTSW 1 53,338,318 (GRCm39) splice site probably benign
R0413:Ormdl1 UTSW 1 53,347,978 (GRCm39) intron probably benign
R5079:Ormdl1 UTSW 1 53,348,093 (GRCm39) missense probably damaging 1.00
R5658:Ormdl1 UTSW 1 53,348,093 (GRCm39) missense probably damaging 1.00
R6518:Ormdl1 UTSW 1 53,348,116 (GRCm39) missense probably benign 0.12
R8130:Ormdl1 UTSW 1 53,338,139 (GRCm39) start codon destroyed probably null 0.93
R8346:Ormdl1 UTSW 1 53,344,626 (GRCm39) missense possibly damaging 0.70
R8893:Ormdl1 UTSW 1 53,344,708 (GRCm39) missense probably damaging 0.98
Predicted Primers PCR Primer
(F):5'- GTTTTCACAAATGAAACATGCGCCAG -3'
(R):5'- GCCTGTACCTGATGACTCTACTTATTGC -3'

Sequencing Primer
(F):5'- TGAAACATGCGCCAGAAAGC -3'
(R):5'- GCCTCTACTTGCTGATAAAAGTTC -3'
Posted On 2014-01-29