Incidental Mutation 'IGL03389:Lss'
| ID |
420993 |
| 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 # |
IGL03389
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
10 |
| Chromosomal Location |
76367422-76392972 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 76372173 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Histidine
at position 176
(R176H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000046856
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000048678]
|
| AlphaFold |
Q8BLN5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000048678
AA Change: R176H
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000046856
Gene: ENSMUSG00000033105
AA Change: R176H
| 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: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aff3 |
A |
T |
1: 38,249,430 (GRCm39) |
V559E |
possibly damaging |
Het |
| Alpk2 |
G |
T |
18: 65,437,937 (GRCm39) |
P1619Q |
possibly damaging |
Het |
| Amz1 |
C |
A |
5: 140,737,782 (GRCm39) |
F347L |
probably benign |
Het |
| Ank1 |
T |
C |
8: 23,578,076 (GRCm39) |
|
probably null |
Het |
| Ank2 |
C |
A |
3: 126,749,519 (GRCm39) |
E503D |
probably damaging |
Het |
| Cdc16 |
A |
G |
8: 13,809,179 (GRCm39) |
Y48C |
probably damaging |
Het |
| Cfap91 |
C |
T |
16: 38,144,498 (GRCm39) |
|
probably null |
Het |
| Cul2 |
A |
G |
18: 3,431,029 (GRCm39) |
D538G |
probably benign |
Het |
| Cyp2j13 |
T |
A |
4: 95,956,558 (GRCm39) |
I184F |
probably damaging |
Het |
| Cyp4a12b |
A |
T |
4: 115,291,005 (GRCm39) |
R344S |
possibly damaging |
Het |
| Dis3 |
A |
G |
14: 99,332,783 (GRCm39) |
|
probably benign |
Het |
| Dnah17 |
T |
C |
11: 117,985,805 (GRCm39) |
H1424R |
probably damaging |
Het |
| Eef2 |
A |
G |
10: 81,015,540 (GRCm39) |
I354V |
probably benign |
Het |
| Elmo1 |
A |
G |
13: 20,526,596 (GRCm39) |
D382G |
probably damaging |
Het |
| Epas1 |
T |
A |
17: 87,131,131 (GRCm39) |
S304T |
probably benign |
Het |
| Fry |
A |
T |
5: 150,317,696 (GRCm39) |
D892V |
probably damaging |
Het |
| Gprc5a |
G |
T |
6: 135,060,823 (GRCm39) |
D355Y |
possibly damaging |
Het |
| Hsd17b7 |
G |
A |
1: 169,787,320 (GRCm39) |
T228I |
probably damaging |
Het |
| Ift74 |
T |
C |
4: 94,510,149 (GRCm39) |
V60A |
possibly damaging |
Het |
| Insrr |
A |
T |
3: 87,716,038 (GRCm39) |
I578F |
probably damaging |
Het |
| Izumo1 |
T |
C |
7: 45,273,613 (GRCm39) |
F122S |
probably damaging |
Het |
| Ltb |
T |
C |
17: 35,414,044 (GRCm39) |
S61P |
probably benign |
Het |
| Mybphl |
T |
C |
3: 108,283,034 (GRCm39) |
V274A |
probably benign |
Het |
| Myo9a |
T |
G |
9: 59,776,890 (GRCm39) |
L1096W |
probably damaging |
Het |
| Nlrc5 |
T |
A |
8: 95,248,102 (GRCm39) |
L1690H |
probably damaging |
Het |
| Nrap |
A |
T |
19: 56,340,148 (GRCm39) |
S790T |
probably benign |
Het |
| Nrcam |
A |
G |
12: 44,596,689 (GRCm39) |
D308G |
probably benign |
Het |
| Or10a3 |
G |
A |
7: 108,479,982 (GRCm39) |
T277M |
probably damaging |
Het |
| Or1j17 |
A |
G |
2: 36,578,274 (GRCm39) |
T87A |
probably benign |
Het |
| Pias2 |
A |
G |
18: 77,185,354 (GRCm39) |
D138G |
probably damaging |
Het |
| Prpf4b |
T |
C |
13: 35,084,439 (GRCm39) |
|
probably benign |
Het |
| Rapgef3 |
A |
G |
15: 97,647,397 (GRCm39) |
S788P |
probably damaging |
Het |
| Slc5a6 |
T |
C |
5: 31,194,821 (GRCm39) |
Y525C |
probably damaging |
Het |
| Snx32 |
T |
C |
19: 5,546,082 (GRCm39) |
|
probably benign |
Het |
| Tnfaip3 |
T |
C |
10: 18,880,735 (GRCm39) |
E444G |
probably benign |
Het |
| Ttc27 |
T |
C |
17: 75,165,028 (GRCm39) |
Y745H |
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 |
|
|
IGL03059:Lss
|
APN |
10 |
76,367,860 (GRCm39) |
splice site |
probably benign |
|
|
IGL03328:Lss
|
APN |
10 |
76,376,785 (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 |
Incidental Mutation