Incidental Mutation 'R8130:Ormdl1'
ID 631941
Institutional Source Beutler Lab
Gene Symbol Ormdl1
Ensembl Gene ENSMUSG00000026097
Gene Name ORM1-like 1 (S. cerevisiae)
Synonyms C730042F17Rik
MMRRC Submission 067559-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.103) question?
Stock # R8130 (G1)
Quality Score 225.009
Status Validated
Chromosome 1
Chromosomal Location 53336254-53349404 bp(+) (GRCm39)
Type of Mutation start codon destroyed
DNA Base Change (assembly) T to A at 53338139 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 1 (M1K)
Ref Sequence ENSEMBL: ENSMUSP00000027266 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027266] [ENSMUST00000027267] [ENSMUST00000126412] [ENSMUST00000126590] [ENSMUST00000128337] [ENSMUST00000135246] [ENSMUST00000190734]
AlphaFold Q921I0
Predicted Effect probably null
Transcript: ENSMUST00000027266
AA Change: M1K

PolyPhen 2 Score 0.927 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000027266
Gene: ENSMUSG00000026097
AA Change: M1K

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 probably null
Transcript: ENSMUST00000190734
AA Change: M1K

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000141087
Gene: ENSMUSG00000100679
AA Change: M1K

DomainStartEndE-ValueType
Pfam:ORMDL 11 123 4.4e-38 PFAM
Pfam:Peptidase_M22 174 233 3.9e-14 PFAM
Coding Region Coverage
  • 1x: 99.8%
  • 3x: 99.7%
  • 10x: 99.1%
  • 20x: 97.3%
Validation Efficiency 96% (52/54)
Allele List at MGI
Other mutations in this stock
Total: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700123K08Rik T C 5: 138,561,271 (GRCm39) I130M probably damaging Het
4921539E11Rik T C 4: 103,092,895 (GRCm39) D142G probably damaging Het
Abcb10 C T 8: 124,691,757 (GRCm39) A403T Het
Arfgef2 T A 2: 166,678,170 (GRCm39) S218T possibly damaging Het
Armc8 C T 9: 99,433,600 (GRCm39) V40I probably benign Het
Caps2 A T 10: 112,018,381 (GRCm39) D177V probably benign Het
Cdh8 A T 8: 99,757,676 (GRCm39) F641I probably damaging Het
Cemip T C 7: 83,596,384 (GRCm39) S1127G probably benign Het
Cmtm1 C A 8: 105,036,088 (GRCm39) Q180H unknown Het
Col15a1 C T 4: 47,312,196 (GRCm39) T1337I probably damaging Het
Col18a1 A T 10: 76,910,284 (GRCm39) M555K probably benign Het
Ctrb1 A G 8: 112,415,823 (GRCm39) F89L possibly damaging Het
Disp1 T C 1: 182,917,199 (GRCm39) T76A probably benign Het
Dpep1 T C 8: 123,926,965 (GRCm39) V263A probably damaging Het
Dysf G A 6: 84,114,358 (GRCm39) E1216K probably damaging Het
F830016B08Rik A G 18: 60,433,052 (GRCm39) Y45C probably benign Het
Fam186a CGG CG 15: 99,841,914 (GRCm39) probably null Het
Gcm1 T A 9: 77,971,816 (GRCm39) D252E probably benign Het
Gm11559 A G 11: 99,755,416 (GRCm39) T22A unknown Het
Gm4847 C T 1: 166,465,917 (GRCm39) R224Q probably damaging Het
Hypk A G 2: 121,286,859 (GRCm39) probably benign Het
I830077J02Rik C T 3: 105,834,233 (GRCm39) C64Y possibly damaging Het
Igkv4-86 T C 6: 68,887,650 (GRCm39) I30V probably benign Het
Il17ra A G 6: 120,455,416 (GRCm39) I342V probably benign Het
Kcnip3 C T 2: 127,352,828 (GRCm39) A64T possibly damaging Het
Kdm5d T A Y: 940,658 (GRCm39) D1056E possibly damaging Het
Kif19b C T 5: 140,460,716 (GRCm39) R461C probably damaging Het
Krtap19-2 C T 16: 88,670,903 (GRCm39) G81R unknown Het
Ldlrad1 G A 4: 107,066,688 (GRCm39) A8T probably benign Het
Lpin1 A T 12: 16,629,965 (GRCm39) I69N Het
Matcap1 G A 8: 106,012,145 (GRCm39) R101W probably benign Het
Mki67 C T 7: 135,299,293 (GRCm39) D1914N probably damaging Het
Mmrn1 A T 6: 60,937,707 (GRCm39) Q235L probably damaging Het
Mndal T A 1: 173,699,111 (GRCm39) K185* probably null Het
Muc6 T C 7: 141,233,354 (GRCm39) T802A probably damaging Het
Necab1 A T 4: 15,005,073 (GRCm39) F130L probably damaging Het
Nemf A T 12: 69,402,826 (GRCm39) M70K possibly damaging Het
Nploc4 A G 11: 120,280,240 (GRCm39) I436T possibly damaging Het
Obscn C A 11: 59,015,439 (GRCm39) R1011M probably damaging Het
Or4k44 A T 2: 111,367,825 (GRCm39) F270I probably damaging Het
Or5aq1b T C 2: 86,901,570 (GRCm39) K303E probably benign Het
Or8k24 T A 2: 86,215,911 (GRCm39) M284L probably benign Het
Pramel34 A T 5: 93,784,597 (GRCm39) L289Q probably damaging Het
Psmb3 A G 11: 97,594,723 (GRCm39) D38G probably benign Het
Psme4 T A 11: 30,792,026 (GRCm39) L1171Q probably damaging Het
Repin1 G T 6: 48,574,279 (GRCm39) E403* probably null Het
Slc22a18 G A 7: 143,052,911 (GRCm39) V379I probably damaging Het
Speg T A 1: 75,392,240 (GRCm39) F1632L probably damaging Het
Taok1 G A 11: 77,470,659 (GRCm39) R49C possibly damaging Het
Ttll6 T C 11: 96,047,425 (GRCm39) S675P probably benign Het
Usp8 A T 2: 126,559,918 (GRCm39) probably benign Het
Vmn2r81 T A 10: 79,110,538 (GRCm39) N550K possibly damaging Het
Zfp119a A T 17: 56,172,971 (GRCm39) C291S probably damaging Het
Zfp329 C A 7: 12,544,313 (GRCm39) G404C probably damaging Het
Zfp934 C A 13: 62,667,985 (GRCm39) probably null 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
R1253:Ormdl1 UTSW 1 53,344,681 (GRCm39) missense possibly damaging 0.95
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
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'- CTAACAGTAGTGACAGCCGG -3'
(R):5'- AGCTCTCCATACTGAAAAGAAGATGG -3'

Sequencing Primer
(F):5'- ACAGCCGGCACTGATAGTTTATTG -3'
(R):5'- CTGAAAAGAAGATGGAGTTCTTACC -3'
Posted On 2020-06-30