Incidental Mutation 'R0892:Msmo1'
ID 83535
Institutional Source Beutler Lab
Gene Symbol Msmo1
Ensembl Gene ENSMUSG00000031604
Gene Name methylsterol monoxygenase 1
Synonyms Sc4mol, C78600, ERG25, DESP4, 1500001G16Rik
MMRRC Submission 039055-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.673) question?
Stock # R0892 (G1)
Quality Score 225
Status Not validated
Chromosome 8
Chromosomal Location 65171173-65186826 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 65175587 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 148 (I148F)
Ref Sequence ENSEMBL: ENSMUSP00000034015 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034015] [ENSMUST00000147419]
AlphaFold Q9CRA4
Predicted Effect possibly damaging
Transcript: ENSMUST00000034015
AA Change: I148F

PolyPhen 2 Score 0.668 (Sensitivity: 0.86; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000034015
Gene: ENSMUSG00000031604
AA Change: I148F

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
Coding Region Coverage
  • 1x: 99.5%
  • 3x: 98.9%
  • 10x: 97.5%
  • 20x: 95.4%
Validation Efficiency
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: 25 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 T A 11: 9,248,305 (GRCm39) V2684E probably benign Het
Ankub1 T C 3: 57,597,800 (GRCm39) R57G probably benign Het
Bcr C T 10: 74,960,895 (GRCm39) A442V probably benign Het
Cd46 T C 1: 194,764,920 (GRCm39) T226A possibly damaging Het
Dmkn C T 7: 30,466,829 (GRCm39) R114C probably damaging Het
Ell2 A T 13: 75,911,758 (GRCm39) N348I probably damaging Het
Epg5 T A 18: 78,011,843 (GRCm39) I830N possibly damaging Het
Gm15737 C T 6: 92,856,721 (GRCm39) probably benign Het
Gpa33 A G 1: 165,985,211 (GRCm39) N182S probably damaging Het
Gpr37 A T 6: 25,688,206 (GRCm39) I297N probably damaging Het
Hpse2 T C 19: 43,376,585 (GRCm39) K56E probably benign Het
Lamc1 G A 1: 153,208,000 (GRCm39) H96Y possibly damaging Het
Mapre2 A G 18: 23,991,200 (GRCm39) N189S probably benign Het
Myh6 T C 14: 55,184,511 (GRCm39) T1607A probably benign Het
Oog2 A T 4: 143,923,069 (GRCm39) T445S probably benign Het
Or5b122 T A 19: 13,562,881 (GRCm39) V28D probably damaging Het
Plag1 G A 4: 3,904,532 (GRCm39) Q220* probably null Het
Pom121l2 A G 13: 22,166,644 (GRCm39) E305G possibly damaging Het
Prorp A G 12: 55,429,033 (GRCm39) probably null Het
Sbsn A T 7: 30,454,244 (GRCm39) Q50L possibly damaging Het
Slc25a42 A G 8: 70,644,597 (GRCm39) L34P probably damaging Het
Sptbn1 C A 11: 30,092,201 (GRCm39) R521S probably damaging Het
St14 A T 9: 31,011,724 (GRCm39) V394E probably benign Het
Tatdn3 T C 1: 190,795,002 (GRCm39) D18G probably benign Het
Trappc8 A G 18: 20,964,665 (GRCm39) probably null Het
Other mutations in Msmo1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02656:Msmo1 APN 8 65,180,906 (GRCm39) missense probably benign 0.00
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
R3872:Msmo1 UTSW 8 65,175,497 (GRCm39) critical splice donor site probably null
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'- GCATTTGAACATGGGGTGAACACAC -3'
(R):5'- GCTCTCTTGAAGCTGGGAGAATCG -3'

Sequencing Primer
(F):5'- cacacacacacacacacac -3'
(R):5'- CTGGGAGAATCGAATGGTTCATATAC -3'
Posted On 2013-11-08