Incidental Mutation 'IGL02656:Msmo1'
ID302345
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Msmo1
Ensembl Gene ENSMUSG00000031604
Gene Namemethylsterol monoxygenase 1
SynonymsDESP4, 1500001G16Rik, Sc4mol, ERG25, C78600
Accession Numbers
Is this an essential gene? Possibly essential (E-score: 0.605) question?
Stock #IGL02656
Quality Score
Status
Chromosome8
Chromosomal Location64718139-64733792 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 64727872 bp
ZygosityHeterozygous
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]
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: 31,702,240 A981D possibly damaging Het
Ccdc69 G T 11: 55,052,437 Q114K possibly damaging Het
Cct5 A T 15: 31,597,430 D66E probably damaging Het
Ces2e G T 8: 104,927,056 R42I possibly damaging Het
Cib2 T G 9: 54,545,898 D178A probably damaging Het
Cldn7 G A 11: 69,967,008 V97I probably benign Het
Dok3 A T 13: 55,528,480 I12N probably damaging Het
Fndc5 T A 4: 129,139,446 V102E probably damaging Het
Gas2 T C 7: 51,943,744 S191P probably benign Het
Herc6 T A 6: 57,611,836 probably null Het
Krt18 A G 15: 102,030,922 T277A probably benign Het
Mpp3 A G 11: 102,008,601 S365P probably benign Het
Olfr1509 G T 14: 52,450,709 A99S possibly damaging Het
Olfr1537 T A 9: 39,238,160 E88V probably benign Het
Olfr394 A G 11: 73,888,039 F111S probably damaging Het
Pex19 C A 1: 172,130,685 A77E probably benign Het
Phf20l1 A G 15: 66,629,827 D620G probably damaging Het
Prr5 A G 15: 84,699,136 D105G probably damaging Het
Rab12 T A 17: 66,506,054 K88M probably damaging Het
Rictor T C 15: 6,776,920 V673A probably damaging Het
Rps26 A G 10: 128,625,257 S88P possibly damaging Het
Sema5a T A 15: 32,631,285 S605T possibly damaging Het
Slc35a4 T C 18: 36,682,447 M110T probably damaging Het
Sowahb T C 5: 93,043,247 S538G probably benign Het
Srrt T A 5: 137,299,676 probably benign Het
Ssbp2 G A 13: 91,669,752 probably benign Het
Supt20 C T 3: 54,708,395 R236W probably damaging Het
Tenm4 A G 7: 96,885,433 D1791G probably damaging Het
Tgm6 G A 2: 130,145,103 G497D probably damaging Het
Trim12c C T 7: 104,341,203 V356I probably damaging Het
Vwce T A 19: 10,664,352 I814K probably benign Het
Other mutations in Msmo1
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0892:Msmo1 UTSW 8 64722553 missense possibly damaging 0.67
R1383:Msmo1 UTSW 8 64723645 missense probably benign 0.00
R1432:Msmo1 UTSW 8 64727616 splice site probably benign
R1604:Msmo1 UTSW 8 64727655 missense probably damaging 0.99
R3872:Msmo1 UTSW 8 64722463 critical splice donor site probably null
R4520:Msmo1 UTSW 8 64720523 unclassified probably benign
R4654:Msmo1 UTSW 8 64727854 missense probably benign 0.02
R5501:Msmo1 UTSW 8 64722489 missense probably damaging 1.00
R5828:Msmo1 UTSW 8 64719110 missense probably damaging 1.00
R6196:Msmo1 UTSW 8 64727884 start gained probably benign
R6761:Msmo1 UTSW 8 64719027 missense probably benign 0.03
Posted On2015-04-16