Incidental Mutation 'R3872:Msmo1'
ID 276615
Institutional Source Beutler Lab
Gene Symbol Msmo1
Ensembl Gene ENSMUSG00000031604
Gene Name methylsterol monoxygenase 1
Synonyms Sc4mol, C78600, ERG25, DESP4, 1500001G16Rik
MMRRC Submission 040790-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.673) question?
Stock # R3872 (G1)
Quality Score 225
Status Validated
Chromosome 8
Chromosomal Location 65171173-65186826 bp(-) (GRCm39)
Type of Mutation critical splice donor site (1 bp from exon)
DNA Base Change (assembly) C to T at 65175497 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000034015 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034015] [ENSMUST00000147419]
AlphaFold Q9CRA4
Predicted Effect probably null
Transcript: ENSMUST00000034015
SMART Domains Protein: ENSMUSP00000034015
Gene: ENSMUSG00000031604

DomainStartEndE-ValueType
transmembrane domain 55 77 N/A INTRINSIC
transmembrane domain 101 123 N/A INTRINSIC
Pfam:FA_hydroxylase 142 274 2.3e-31 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132013
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135943
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140861
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145216
Predicted Effect probably benign
Transcript: ENSMUST00000147419
SMART Domains Protein: ENSMUSP00000117545
Gene: ENSMUSG00000031604

DomainStartEndE-ValueType
transmembrane domain 55 77 N/A INTRINSIC
Meta Mutation Damage Score 0.9593 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.5%
  • 20x: 95.7%
Validation Efficiency 98% (61/62)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Sterol-C4-mehtyl oxidase-like protein was isolated based on its similarity to the yeast ERG25 protein. It contains a set of putative metal binding motifs with similarity to that seen in a family of membrane desaturases-hydroxylases. The protein is localized to the endoplasmic reticulum membrane and is believed to function in cholesterol biosynthesis. Alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aatk T C 11: 119,901,045 (GRCm39) E1117G possibly damaging Het
Abca5 T A 11: 110,201,059 (GRCm39) Y447F probably damaging Het
Akap12 G A 10: 4,307,590 (GRCm39) V1467I probably benign Het
Baz2a T A 10: 127,959,979 (GRCm39) M1419K probably damaging Het
Bhmt-ps1 T C 4: 26,369,201 (GRCm39) noncoding transcript Het
Cabcoco1 T C 10: 68,352,108 (GRCm39) Y68C probably damaging Het
Car12 C A 9: 66,624,834 (GRCm39) probably benign Het
Cic T C 7: 24,971,124 (GRCm39) V285A possibly damaging Het
Col19a1 A G 1: 24,614,408 (GRCm39) probably benign Het
Col6a4 T C 9: 105,890,858 (GRCm39) N1812S possibly damaging Het
Cry1 T C 10: 84,969,024 (GRCm39) probably null Het
Dlgap4 T C 2: 156,591,267 (GRCm39) S818P probably benign Het
Dlx5 G T 6: 6,878,209 (GRCm39) P274T probably benign Het
Dnah2 A G 11: 69,320,174 (GRCm39) I3965T probably damaging Het
Dnah5 A G 15: 28,411,656 (GRCm39) K3675R possibly damaging Het
Dpp6 A G 5: 27,926,056 (GRCm39) Y710C probably damaging Het
Dsc3 C A 18: 20,104,565 (GRCm39) K587N probably damaging Het
Eif1ad10 T C 12: 88,216,476 (GRCm39) D132G unknown Het
Epcam C A 17: 87,947,354 (GRCm39) T36K possibly damaging Het
Epha2 T C 4: 141,035,716 (GRCm39) W51R probably damaging Het
Eya4 A T 10: 23,031,870 (GRCm39) I251N probably damaging Het
Fbxo21 G A 5: 118,138,394 (GRCm39) V447I possibly damaging Het
Firrm A T 1: 163,814,533 (GRCm39) S137T probably damaging Het
Frg2f1 T A 4: 119,388,155 (GRCm39) T115S possibly damaging Het
Hecw2 A T 1: 53,871,916 (GRCm39) probably benign Het
Igfals G A 17: 25,100,579 (GRCm39) V557I possibly damaging Het
Iqca1 A T 1: 90,017,203 (GRCm39) Y411N probably damaging Het
Itpa T G 2: 130,522,930 (GRCm39) S176A probably damaging Het
Klhl1 A G 14: 96,755,615 (GRCm39) F47L probably benign Het
Krt26 T C 11: 99,225,570 (GRCm39) K304E probably damaging Het
Krt34 T C 11: 99,932,243 (GRCm39) H27R probably benign Het
Mia3 T C 1: 183,138,342 (GRCm39) E791G probably benign Het
Mroh2b A T 15: 4,954,543 (GRCm39) K669* probably null Het
Muc6 T C 7: 141,226,867 (GRCm39) T1387A probably benign Het
Myo1g C T 11: 6,464,886 (GRCm39) V463I possibly damaging Het
Or12d12 T A 17: 37,610,870 (GRCm39) T148S probably benign Het
Or4f6 T C 2: 111,838,668 (GRCm39) T288A possibly damaging Het
Or5h24 G A 16: 58,919,124 (GRCm39) T77I unknown Het
Or5l13 T A 2: 87,779,874 (GRCm39) R234S probably damaging Het
Pde10a C A 17: 8,975,923 (GRCm39) T16K possibly damaging Het
Pfas T C 11: 68,891,089 (GRCm39) T310A probably damaging Het
Phb2 G A 6: 124,693,394 (GRCm39) probably null Het
Plin3 A G 17: 56,591,181 (GRCm39) S200P probably damaging Het
Plxna1 C A 6: 89,309,674 (GRCm39) E1087* probably null Het
Rnf17 G T 14: 56,712,870 (GRCm39) R779L possibly damaging Het
Sacs C T 14: 61,385,517 (GRCm39) T6M probably benign Het
Scfd1 A G 12: 51,438,979 (GRCm39) Y147C probably damaging Het
Septin1 T C 7: 126,814,447 (GRCm39) probably benign Het
Septin5 A G 16: 18,441,723 (GRCm39) L344P probably damaging Het
Sgsh A G 11: 119,241,773 (GRCm39) L111P probably damaging Het
Slc35f1 A G 10: 52,898,006 (GRCm39) D139G possibly damaging Het
Sod3 A G 5: 52,525,631 (GRCm39) Y110C probably damaging Het
Stk35 T C 2: 129,652,495 (GRCm39) V332A possibly damaging Het
Tacc2 C T 7: 130,224,152 (GRCm39) T279M probably benign Het
Tdo2 T C 3: 81,875,393 (GRCm39) E187G probably benign Het
Tmem150b A T 7: 4,727,360 (GRCm39) Y48* probably null Het
Usp34 C T 11: 23,439,033 (GRCm39) P3532S possibly damaging Het
Vmn2r60 C T 7: 41,785,878 (GRCm39) S227L probably benign Het
Vps33a C T 5: 123,669,255 (GRCm39) V549I probably benign Het
Zfp788 T A 7: 41,298,868 (GRCm39) Y449* probably null Het
Other mutations in Msmo1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02656:Msmo1 APN 8 65,180,906 (GRCm39) missense probably benign 0.00
R0892:Msmo1 UTSW 8 65,175,587 (GRCm39) missense possibly damaging 0.67
R1383:Msmo1 UTSW 8 65,176,679 (GRCm39) missense probably benign 0.00
R1432:Msmo1 UTSW 8 65,180,650 (GRCm39) splice site probably benign
R1604:Msmo1 UTSW 8 65,180,689 (GRCm39) missense probably damaging 0.99
R4520:Msmo1 UTSW 8 65,173,557 (GRCm39) unclassified probably benign
R4654:Msmo1 UTSW 8 65,180,888 (GRCm39) missense probably benign 0.02
R5501:Msmo1 UTSW 8 65,175,523 (GRCm39) missense probably damaging 1.00
R5828:Msmo1 UTSW 8 65,172,144 (GRCm39) missense probably damaging 1.00
R6196:Msmo1 UTSW 8 65,180,918 (GRCm39) start gained probably benign
R6761:Msmo1 UTSW 8 65,172,061 (GRCm39) missense probably benign 0.03
Predicted Primers PCR Primer
(F):5'- GTTTACTCCACAAAGTTGTCCTCTG -3'
(R):5'- AGTCGTGGTTACCTGGTACTC -3'

Sequencing Primer
(F):5'- CATGTGTGTGCATGAACGC -3'
(R):5'- GTGGTTACCTGGTACTCACTACTG -3'
Posted On 2015-04-06