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)
|
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
Domain | Start | End | E-Value | Type |
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
Domain | Start | End | E-Value | Type |
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
Domain | Start | End | E-Value | Type |
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
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
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 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |