Incidental Mutation 'R5501:Msmo1'
ID 430614
Institutional Source Beutler Lab
Gene Symbol Msmo1
Ensembl Gene ENSMUSG00000031604
Gene Name methylsterol monoxygenase 1
Synonyms Sc4mol, C78600, ERG25, DESP4, 1500001G16Rik
MMRRC Submission 043062-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.673) question?
Stock # R5501 (G1)
Quality Score 225
Status Not validated
Chromosome 8
Chromosomal Location 65171173-65186826 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 65175523 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 169 (I169N)
Ref Sequence ENSEMBL: ENSMUSP00000034015 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034015] [ENSMUST00000147419]
AlphaFold Q9CRA4
Predicted Effect probably damaging
Transcript: ENSMUST00000034015
AA Change: I169N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000034015
Gene: ENSMUSG00000031604
AA Change: I169N

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: 98.2%
  • 3x: 97.3%
  • 10x: 95.1%
  • 20x: 90.3%
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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam26a A C 8: 44,022,941 (GRCm39) L183* probably null Het
Alox12e G T 11: 70,207,055 (GRCm39) Q584K probably benign Het
Atp1a4 A G 1: 172,074,399 (GRCm39) S285P probably damaging Het
Cdt1 C T 8: 123,297,239 (GRCm39) R311W probably damaging Het
Col25a1 A G 3: 130,389,312 (GRCm39) T632A probably benign Het
Coro6 T C 11: 77,358,622 (GRCm39) F227S probably damaging Het
Diras2 C T 13: 52,661,786 (GRCm39) V174M probably benign Het
Dop1a A G 9: 86,389,783 (GRCm39) D569G probably benign Het
Dync1li2 A G 8: 105,167,104 (GRCm39) probably null Het
Dysf T C 6: 84,064,800 (GRCm39) V508A probably damaging Het
Edem1 T C 6: 108,820,061 (GRCm39) probably null Het
Eef2k A G 7: 120,488,471 (GRCm39) D452G probably benign Het
Espl1 A G 15: 102,225,565 (GRCm39) R1539G possibly damaging Het
Fat4 A G 3: 38,941,364 (GRCm39) S86G probably benign Het
Hpgd A T 8: 56,751,391 (GRCm39) D73V probably benign Het
Ltb4r1 A G 14: 56,005,539 (GRCm39) N281D probably damaging Het
Map7 T C 10: 20,151,948 (GRCm39) S638P unknown Het
Mical1 G A 10: 41,362,075 (GRCm39) A934T probably benign Het
Micu3 C A 8: 40,807,341 (GRCm39) probably null Het
Mmp24 T A 2: 155,640,056 (GRCm39) Y129N probably damaging Het
Mras A T 9: 99,293,599 (GRCm39) Y14N probably damaging Het
Mtrr G T 13: 68,727,766 (GRCm39) T60K probably damaging Het
Or4c113 A T 2: 88,885,230 (GRCm39) L180* probably null Het
Or5p6 G T 7: 107,631,360 (GRCm39) Y63* probably null Het
Or7g30 T A 9: 19,352,290 (GRCm39) I27N possibly damaging Het
Pam A T 1: 97,768,090 (GRCm39) C8* probably null Het
Phrf1 T G 7: 140,839,834 (GRCm39) S1169A possibly damaging Het
Pkd1l2 T C 8: 117,792,569 (GRCm39) T408A probably damaging Het
Plch1 G T 3: 63,615,162 (GRCm39) Q778K probably damaging Het
Ppp1r3a A G 6: 14,719,417 (GRCm39) V499A probably benign Het
Rnd2 C T 11: 101,359,825 (GRCm39) L57F probably damaging Het
Ryr3 C A 2: 112,492,849 (GRCm39) S3736I possibly damaging Het
Serpinb13 T C 1: 106,909,915 (GRCm39) F11L possibly damaging Het
Slc45a2 C T 15: 11,027,871 (GRCm39) T480I probably damaging Het
Smcp A G 3: 92,491,731 (GRCm39) C39R unknown Het
Sox9 T A 11: 112,674,685 (GRCm39) L161Q probably damaging Het
Tanc2 T C 11: 105,805,811 (GRCm39) probably null Het
Tlr3 C T 8: 45,851,851 (GRCm39) D349N possibly damaging Het
Tmem131l G T 3: 83,833,435 (GRCm39) N809K probably damaging Het
Tyk2 T C 9: 21,032,908 (GRCm39) Y285C probably damaging Het
Usp15 T A 10: 123,011,804 (GRCm39) N98Y 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
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
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'- ACTCCACAAAGTTGTCCTCTG -3'
(R):5'- ATTTCATGTCTGGGCAGCAGC -3'

Sequencing Primer
(F):5'- CATGTGTGTGCATGAACGC -3'
(R):5'- AGCAGCCTAAGTCGTGGTTAC -3'
Posted On 2016-10-05