Incidental Mutation 'R1383:Msmo1'
ID 163133
Institutional Source Beutler Lab
Gene Symbol Msmo1
Ensembl Gene ENSMUSG00000031604
Gene Name methylsterol monoxygenase 1
Synonyms Sc4mol, C78600, ERG25, DESP4, 1500001G16Rik
MMRRC Submission 039445-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.673) question?
Stock # R1383 (G1)
Quality Score 225
Status Not validated
Chromosome 8
Chromosomal Location 65171173-65186826 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 65176679 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Isoleucine at position 116 (T116I)
Ref Sequence ENSEMBL: ENSMUSP00000034015 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034015] [ENSMUST00000141021] [ENSMUST00000147419]
AlphaFold Q9CRA4
Predicted Effect probably benign
Transcript: ENSMUST00000034015
AA Change: T116I

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000034015
Gene: ENSMUSG00000031604
AA Change: T116I

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 probably benign
Transcript: ENSMUST00000141021
SMART Domains Protein: ENSMUSP00000121070
Gene: ENSMUSG00000031604

DomainStartEndE-ValueType
transmembrane domain 49 71 N/A INTRINSIC
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: 98.9%
  • 3x: 97.9%
  • 10x: 95.1%
  • 20x: 88.5%
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: 22 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Asph T A 4: 9,537,807 (GRCm39) probably null Het
Dync1h1 G A 12: 110,602,943 (GRCm39) E2195K probably benign Het
Eef1akmt1 A G 14: 57,795,489 (GRCm39) probably null Het
Ext2 T C 2: 93,636,458 (GRCm39) T219A possibly damaging Het
F5 G C 1: 164,026,486 (GRCm39) R1686P probably damaging Het
Fat2 G A 11: 55,201,599 (GRCm39) H492Y probably benign Het
Glyr1 GCTGCC G 16: 4,839,209 (GRCm39) probably null Het
Kcmf1 A G 6: 72,826,565 (GRCm39) F155L possibly damaging Het
Miox G A 15: 89,219,245 (GRCm39) R29Q probably damaging Het
Mmrn1 A G 6: 60,953,306 (GRCm39) Y529C probably damaging Het
Or4c12 A T 2: 89,773,895 (GRCm39) M188K probably benign Het
Or5aq1b A G 2: 86,902,136 (GRCm39) L114P probably damaging Het
Or8g2 A T 9: 39,821,160 (GRCm39) K20N probably benign Het
Or8k40 C T 2: 86,584,838 (GRCm39) M81I possibly damaging Het
Ptpn6 A G 6: 124,698,856 (GRCm39) I486T probably damaging Het
Slc12a8 T C 16: 33,355,357 (GRCm39) F58L probably damaging Het
Slc5a2 G C 7: 127,869,803 (GRCm39) R412P probably damaging Het
Sned1 G A 1: 93,209,376 (GRCm39) V830M possibly damaging Het
Snrnp200 T C 2: 127,060,331 (GRCm39) I525T probably benign Het
Spopfm1 A G 3: 94,173,102 (GRCm39) M37V probably benign Het
Ugt2b38 T G 5: 87,560,232 (GRCm39) N361H probably damaging Het
Znrf3 G C 11: 5,231,994 (GRCm39) F410L probably damaging 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
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'- AGCCTGAAGTTCACAGTAAAGCCATT -3'
(R):5'- CTGAACACAGCACAGAACTGAGGG -3'

Sequencing Primer
(F):5'- cccacccaccttcacctc -3'
(R):5'- AGGCCAGTGGAAGTGTTTGA -3'
Posted On 2014-03-17