Incidental Mutation 'R0031:Ormdl1'
ID18654
Institutional Source Beutler Lab
Gene Symbol Ormdl1
Ensembl Gene ENSMUSG00000026097
Gene NameORM1-like 1 (S. cerevisiae)
SynonymsC730042F17Rik
MMRRC Submission 038325-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.129) question?
Stock #R0031 (G1)
Quality Score
Status Validated
Chromosome1
Chromosomal Location53297095-53310309 bp(+) (GRCm38)
Type of Mutationsplice site
DNA Base Change (assembly) A to G at 53299159 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000141087 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027266] [ENSMUST00000027267] [ENSMUST00000126412] [ENSMUST00000126590] [ENSMUST00000128337] [ENSMUST00000135246] [ENSMUST00000190734]
Predicted Effect probably benign
Transcript: ENSMUST00000027266
SMART Domains Protein: ENSMUSP00000027266
Gene: ENSMUSG00000026097

DomainStartEndE-ValueType
Pfam:ORMDL 11 146 2.3e-56 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000027267
SMART Domains Protein: ENSMUSP00000027267
Gene: ENSMUSG00000026098

DomainStartEndE-ValueType
HATPase_c 16 151 3.84e-1 SMART
DNA_mis_repair 210 338 2.46e-25 SMART
low complexity region 457 474 N/A INTRINSIC
HMG 557 627 1.42e-17 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000126412
Predicted Effect probably benign
Transcript: ENSMUST00000126590
SMART Domains Protein: ENSMUSP00000120670
Gene: ENSMUSG00000026098

DomainStartEndE-ValueType
Pfam:HATPase_c 16 80 5.3e-13 PFAM
Pfam:HATPase_c_3 18 79 1.3e-12 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000128337
SMART Domains Protein: ENSMUSP00000115352
Gene: ENSMUSG00000026098

DomainStartEndE-ValueType
HATPase_c 16 114 1.13e0 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000135246
SMART Domains Protein: ENSMUSP00000119632
Gene: ENSMUSG00000026098

DomainStartEndE-ValueType
HATPase_c 16 151 3.84e-1 SMART
DNA_mis_repair 210 338 2.46e-25 SMART
low complexity region 457 474 N/A INTRINSIC
HMG 557 627 1.42e-17 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135746
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142922
Predicted Effect noncoding transcript
Transcript: ENSMUST00000188890
Predicted Effect probably benign
Transcript: ENSMUST00000190734
SMART Domains Protein: ENSMUSP00000141087
Gene: ENSMUSG00000100679

DomainStartEndE-ValueType
Pfam:ORMDL 11 123 4.4e-38 PFAM
Pfam:Peptidase_M22 174 233 3.9e-14 PFAM
Coding Region Coverage
  • 1x: 81.0%
  • 3x: 73.5%
  • 10x: 52.2%
  • 20x: 32.1%
Validation Efficiency 93% (95/102)
Allele List at MGI
Other mutations in this stock
Total: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700022I11Rik A T 4: 42,973,712 K1015M probably damaging Het
Abcb11 G A 2: 69,285,308 R571C probably damaging Het
Agr3 T C 12: 35,947,591 M100T probably benign Het
Ankrd7 T A 6: 18,870,008 Y253* probably null Het
Atp2c2 A T 8: 119,749,062 T565S probably benign Het
C330027C09Rik C T 16: 49,017,373 S812F probably benign Het
Ccdc88b G T 19: 6,853,783 S597Y possibly damaging Het
Celsr2 T C 3: 108,413,063 N811S probably damaging Het
Cep170 A T 1: 176,756,091 D907E probably damaging Het
Clstn1 G A 4: 149,634,796 V361M probably damaging Het
Cmss1 T G 16: 57,311,249 probably null Het
Cobl T C 11: 12,254,945 T579A probably benign Het
Col1a2 G A 6: 4,518,822 probably benign Het
Csrp2 C T 10: 110,938,740 S172L probably benign Het
Fip1l1 T C 5: 74,557,109 S235P probably damaging Het
Gbgt1 T A 2: 28,498,450 probably benign Het
Gml2 T C 15: 74,824,276 I173T probably benign Het
Gucy2c T A 6: 136,697,999 I1005F probably damaging Het
Irak3 T A 10: 120,176,320 K88* probably null Het
Klc1 T C 12: 111,777,033 Y265H probably damaging Het
Lamb1 G A 12: 31,301,156 V754I probably benign Het
Lrguk A T 6: 34,043,496 Q58H probably damaging Het
Lyst A G 13: 13,708,156 D2902G probably benign Het
Mtpap T A 18: 4,383,244 I207N probably damaging Het
Ncdn A T 4: 126,750,108 probably null Het
Nup160 A G 2: 90,717,587 probably null Het
Pde5a A G 3: 122,803,055 M432V probably benign Het
Pikfyve T A 1: 65,215,929 probably benign Het
Plcb2 A G 2: 118,715,461 V581A probably benign Het
Plpp6 T A 19: 28,964,843 N281K probably benign Het
Pwp1 T C 10: 85,885,896 I422T probably benign Het
Rims1 T C 1: 22,296,879 N1199S probably damaging Het
Sema3c T C 5: 17,694,728 L406P probably damaging Het
Senp6 C T 9: 80,126,243 P84L probably damaging Het
Setx A G 2: 29,176,929 I2361V probably benign Het
Slc25a12 C T 2: 71,333,614 V106M possibly damaging Het
Slc3a1 A G 17: 85,032,846 Y232C probably damaging Het
Taf1c A T 8: 119,599,090 C678S probably benign Het
Tcp11l2 G T 10: 84,591,140 C156F probably damaging Het
Tmem62 A G 2: 120,999,113 T316A probably benign Het
Ulk4 A G 9: 121,272,982 I10T probably damaging Het
Vps54 T C 11: 21,312,899 I824T probably damaging Het
Wdfy3 A T 5: 101,889,295 V2042E probably damaging Het
Wfdc6b A T 2: 164,613,859 E36V probably damaging Het
Xpc C T 6: 91,491,226 A860T probably benign Het
Other mutations in Ormdl1
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0413:Ormdl1 UTSW 1 53308819 intron probably benign
R1253:Ormdl1 UTSW 1 53305522 missense possibly damaging 0.95
R5079:Ormdl1 UTSW 1 53308934 missense probably damaging 1.00
R5658:Ormdl1 UTSW 1 53308934 missense probably damaging 1.00
R6518:Ormdl1 UTSW 1 53308957 missense probably benign 0.12
R8130:Ormdl1 UTSW 1 53298980 start codon destroyed probably null 0.93
R8346:Ormdl1 UTSW 1 53305467 missense possibly damaging 0.70
Posted On2013-03-25