Incidental Mutation 'IGL02656:Msmo1'
ID 302345
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Msmo1
Ensembl Gene ENSMUSG00000031604
Gene Name methylsterol monoxygenase 1
Synonyms Sc4mol, C78600, ERG25, DESP4, 1500001G16Rik
Accession Numbers
Essential gene? Possibly essential (E-score: 0.673) question?
Stock # IGL02656
Quality Score
Status
Chromosome 8
Chromosomal Location 65171173-65186826 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 65180906 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 3 (T3A)
Ref Sequence ENSEMBL: ENSMUSP00000117545 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034015] [ENSMUST00000141021] [ENSMUST00000147419]
AlphaFold Q9CRA4
Predicted Effect probably benign
Transcript: ENSMUST00000034015
AA Change: T3A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000034015
Gene: ENSMUSG00000031604
AA Change: T3A

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 probably benign
Transcript: ENSMUST00000141021
AA Change: T3A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000121070
Gene: ENSMUSG00000031604
AA Change: T3A

DomainStartEndE-ValueType
transmembrane domain 49 71 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145216
Predicted Effect probably benign
Transcript: ENSMUST00000147419
AA Change: T3A

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000117545
Gene: ENSMUSG00000031604
AA Change: T3A

DomainStartEndE-ValueType
transmembrane domain 55 77 N/A INTRINSIC
Coding Region Coverage
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: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ankrd28 G T 14: 31,424,197 (GRCm39) A981D possibly damaging Het
Ccdc69 G T 11: 54,943,263 (GRCm39) Q114K possibly damaging Het
Cct5 A T 15: 31,597,576 (GRCm39) D66E probably damaging Het
Ces2e G T 8: 105,653,688 (GRCm39) R42I possibly damaging Het
Cib2 T G 9: 54,453,182 (GRCm39) D178A probably damaging Het
Cldn7 G A 11: 69,857,834 (GRCm39) V97I probably benign Het
Dok3 A T 13: 55,676,293 (GRCm39) I12N probably damaging Het
Fndc5 T A 4: 129,033,239 (GRCm39) V102E probably damaging Het
Gas2 T C 7: 51,593,492 (GRCm39) S191P probably benign Het
Herc6 T A 6: 57,588,821 (GRCm39) probably null Het
Krt18 A G 15: 101,939,357 (GRCm39) T277A probably benign Het
Mpp3 A G 11: 101,899,427 (GRCm39) S365P probably benign Het
Or1e34 A G 11: 73,778,865 (GRCm39) F111S probably damaging Het
Or4e2 G T 14: 52,688,166 (GRCm39) A99S possibly damaging Het
Or8g18 T A 9: 39,149,456 (GRCm39) E88V probably benign Het
Pex19 C A 1: 171,958,252 (GRCm39) A77E probably benign Het
Phf20l1 A G 15: 66,501,676 (GRCm39) D620G probably damaging Het
Prr5 A G 15: 84,583,337 (GRCm39) D105G probably damaging Het
Rab12 T A 17: 66,813,049 (GRCm39) K88M probably damaging Het
Rictor T C 15: 6,806,401 (GRCm39) V673A probably damaging Het
Rps26 A G 10: 128,461,126 (GRCm39) S88P possibly damaging Het
Sema5a T A 15: 32,631,431 (GRCm39) S605T possibly damaging Het
Slc35a4 T C 18: 36,815,500 (GRCm39) M110T probably damaging Het
Sowahb T C 5: 93,191,106 (GRCm39) S538G probably benign Het
Srrt T A 5: 137,297,938 (GRCm39) probably benign Het
Ssbp2 G A 13: 91,817,871 (GRCm39) probably benign Het
Supt20 C T 3: 54,615,816 (GRCm39) R236W probably damaging Het
Tenm4 A G 7: 96,534,640 (GRCm39) D1791G probably damaging Het
Tgm6 G A 2: 129,987,023 (GRCm39) G497D probably damaging Het
Trim12c C T 7: 103,990,410 (GRCm39) V356I probably damaging Het
Vwce T A 19: 10,641,716 (GRCm39) I814K probably benign Het
Other mutations in Msmo1
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
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
Posted On 2015-04-16