Incidental Mutation 'IGL03059:Lss'
ID |
409392 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Lss
|
Ensembl Gene |
ENSMUSG00000033105 |
Gene Name |
lanosterol synthase |
Synonyms |
Osc, D10Ertd116e, 2810025N20Rik |
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
IGL03059
|
Quality Score |
|
Status
|
|
Chromosome |
10 |
Chromosomal Location |
76367422-76392972 bp(+) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
A to T
at 76367860 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000046856
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000048678]
|
AlphaFold |
Q8BLN5 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000048678
|
SMART Domains |
Protein: ENSMUSP00000046856 Gene: ENSMUSG00000033105
Domain | Start | End | E-Value | Type |
Pfam:SQHop_cyclase_N
|
80 |
373 |
2.4e-47 |
PFAM |
Pfam:Prenyltrans
|
84 |
117 |
3.9e-3 |
PFAM |
Pfam:Prenyltrans
|
123 |
166 |
5.2e-14 |
PFAM |
Pfam:SQHop_cyclase_C
|
384 |
722 |
4.6e-58 |
PFAM |
Pfam:Prenyltrans
|
560 |
601 |
9.9e-14 |
PFAM |
Pfam:Prenyltrans
|
611 |
663 |
1.4e-12 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000159013
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000159172
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000160671
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000162475
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: This gene encodes an enzyme that catalyzes the conversion of (S)-2,3 oxidosqualene to lanosterol. The encoded protein is a member of the terpene cyclase/mutase family and catalyzes the first step in the biosynthesis of cholesterol, steroid hormones, and vitamin D. [provided by RefSeq, Feb 2015]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 37 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ahsg |
T |
C |
16: 22,717,755 (GRCm39) |
V244A |
possibly damaging |
Het |
Aoc1l3 |
A |
T |
6: 48,964,349 (GRCm39) |
Y119F |
probably benign |
Het |
Ccdc187 |
C |
A |
2: 26,184,253 (GRCm39) |
R48M |
probably null |
Het |
Cnga2 |
G |
A |
X: 71,051,878 (GRCm39) |
R251H |
probably damaging |
Het |
Cop1 |
A |
C |
1: 159,134,279 (GRCm39) |
K174Q |
probably damaging |
Het |
Cul9 |
T |
C |
17: 46,849,913 (GRCm39) |
D512G |
probably damaging |
Het |
Flt4 |
G |
A |
11: 49,533,134 (GRCm39) |
A1140T |
probably damaging |
Het |
Galnt3 |
C |
T |
2: 65,923,954 (GRCm39) |
R438H |
probably damaging |
Het |
Gatm |
G |
A |
2: 122,440,181 (GRCm39) |
A86V |
probably damaging |
Het |
Klhl28 |
C |
T |
12: 64,998,340 (GRCm39) |
A385T |
probably benign |
Het |
Klhl40 |
T |
A |
9: 121,607,203 (GRCm39) |
V121E |
probably damaging |
Het |
L1cam |
T |
A |
X: 72,910,630 (GRCm39) |
H30L |
probably benign |
Het |
Mrnip |
A |
T |
11: 50,090,596 (GRCm39) |
Q253H |
probably damaging |
Het |
Mroh9 |
A |
T |
1: 162,852,205 (GRCm39) |
F828Y |
possibly damaging |
Het |
Mst1 |
T |
C |
9: 107,962,012 (GRCm39) |
C668R |
probably damaging |
Het |
Nadk |
A |
G |
4: 155,671,253 (GRCm39) |
E143G |
probably benign |
Het |
Nap1l4 |
C |
T |
7: 143,080,902 (GRCm39) |
|
probably null |
Het |
Nme8 |
A |
G |
13: 19,836,414 (GRCm39) |
I254T |
possibly damaging |
Het |
Or14c41 |
A |
G |
7: 86,234,779 (GRCm39) |
I99V |
probably benign |
Het |
Or1ab2 |
T |
A |
8: 72,863,842 (GRCm39) |
L144Q |
probably damaging |
Het |
Or2y12 |
A |
G |
11: 49,426,021 (GRCm39) |
Y3C |
probably benign |
Het |
Pkd1l2 |
G |
A |
8: 117,792,484 (GRCm39) |
T436I |
probably benign |
Het |
Pkd1l3 |
C |
T |
8: 110,374,999 (GRCm39) |
L1491F |
probably damaging |
Het |
Plec |
G |
T |
15: 76,059,968 (GRCm39) |
T3488N |
probably damaging |
Het |
Plk2 |
T |
G |
13: 110,535,668 (GRCm39) |
S497A |
probably benign |
Het |
Polr1a |
G |
A |
6: 71,913,496 (GRCm39) |
V617I |
probably benign |
Het |
Prelid3a |
C |
A |
18: 67,609,909 (GRCm39) |
Y112* |
probably null |
Het |
Rnf113a2 |
C |
A |
12: 84,464,250 (GRCm39) |
S47R |
possibly damaging |
Het |
Rtel1 |
A |
G |
2: 180,991,976 (GRCm39) |
N410D |
probably benign |
Het |
Ryr3 |
C |
T |
2: 112,630,392 (GRCm39) |
A2140T |
probably damaging |
Het |
Slc22a29 |
A |
G |
19: 8,147,354 (GRCm39) |
L336P |
probably benign |
Het |
Sphkap |
T |
A |
1: 83,234,963 (GRCm39) |
Q1621L |
probably damaging |
Het |
Trgc1 |
A |
T |
13: 19,400,072 (GRCm39) |
K123* |
probably null |
Het |
Ttn |
T |
A |
2: 76,739,863 (GRCm39) |
S3559C |
probably benign |
Het |
Ubr4 |
C |
T |
4: 139,207,987 (GRCm39) |
R4923W |
probably damaging |
Het |
Vac14 |
T |
C |
8: 111,437,084 (GRCm39) |
L599P |
probably damaging |
Het |
Wdr5 |
T |
C |
2: 27,409,746 (GRCm39) |
|
probably benign |
Het |
|
Other mutations in Lss |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02164:Lss
|
APN |
10 |
76,372,094 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02561:Lss
|
APN |
10 |
76,376,264 (GRCm39) |
unclassified |
probably benign |
|
IGL02991:Lss
|
APN |
10 |
76,379,745 (GRCm39) |
unclassified |
probably benign |
|
IGL03328:Lss
|
APN |
10 |
76,376,785 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03389:Lss
|
APN |
10 |
76,372,173 (GRCm39) |
missense |
probably damaging |
1.00 |
R1426:Lss
|
UTSW |
10 |
76,372,137 (GRCm39) |
missense |
probably damaging |
0.98 |
R1529:Lss
|
UTSW |
10 |
76,372,123 (GRCm39) |
nonsense |
probably null |
|
R1727:Lss
|
UTSW |
10 |
76,375,678 (GRCm39) |
missense |
possibly damaging |
0.95 |
R1815:Lss
|
UTSW |
10 |
76,388,798 (GRCm39) |
missense |
probably damaging |
1.00 |
R1940:Lss
|
UTSW |
10 |
76,381,296 (GRCm39) |
missense |
possibly damaging |
0.95 |
R2051:Lss
|
UTSW |
10 |
76,367,712 (GRCm39) |
missense |
possibly damaging |
0.63 |
R2061:Lss
|
UTSW |
10 |
76,381,932 (GRCm39) |
splice site |
probably null |
|
R3700:Lss
|
UTSW |
10 |
76,382,026 (GRCm39) |
missense |
probably damaging |
1.00 |
R4020:Lss
|
UTSW |
10 |
76,383,278 (GRCm39) |
missense |
probably damaging |
1.00 |
R4619:Lss
|
UTSW |
10 |
76,372,089 (GRCm39) |
missense |
probably benign |
0.11 |
R4995:Lss
|
UTSW |
10 |
76,383,371 (GRCm39) |
missense |
probably benign |
0.10 |
R5056:Lss
|
UTSW |
10 |
76,388,760 (GRCm39) |
splice site |
probably null |
|
R5134:Lss
|
UTSW |
10 |
76,382,070 (GRCm39) |
unclassified |
probably benign |
|
R6074:Lss
|
UTSW |
10 |
76,379,693 (GRCm39) |
missense |
probably damaging |
1.00 |
R6140:Lss
|
UTSW |
10 |
76,386,522 (GRCm39) |
missense |
probably damaging |
1.00 |
R7214:Lss
|
UTSW |
10 |
76,383,305 (GRCm39) |
missense |
probably damaging |
1.00 |
R7717:Lss
|
UTSW |
10 |
76,381,286 (GRCm39) |
missense |
possibly damaging |
0.88 |
R8263:Lss
|
UTSW |
10 |
76,367,739 (GRCm39) |
missense |
probably damaging |
1.00 |
R8350:Lss
|
UTSW |
10 |
76,371,429 (GRCm39) |
missense |
probably damaging |
1.00 |
R8450:Lss
|
UTSW |
10 |
76,371,429 (GRCm39) |
missense |
probably damaging |
1.00 |
R9735:Lss
|
UTSW |
10 |
76,382,615 (GRCm39) |
missense |
probably benign |
|
|
Posted On |
2016-08-02 |