Incidental Mutation 'IGL02561:Lss'
| ID |
298680 |
| 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 # |
IGL02561
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
10 |
| Chromosomal Location |
76367422-76392972 bp(+) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
T to C
at 76376264 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000125575
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000048678]
[ENSMUST00000163049]
|
| 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
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000163049
|
| 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 |
|---|
| Abcg3 |
T |
A |
5: 105,125,536 (GRCm39) |
Q49L |
probably benign |
Het |
| Aifm2 |
A |
G |
10: 61,561,786 (GRCm39) |
D44G |
probably damaging |
Het |
| Cdc45 |
C |
T |
16: 18,617,479 (GRCm39) |
M200I |
probably benign |
Het |
| Cmya5 |
T |
C |
13: 93,228,366 (GRCm39) |
T2241A |
probably benign |
Het |
| Cntn4 |
C |
T |
6: 106,500,470 (GRCm39) |
P316S |
probably damaging |
Het |
| Ctnna2 |
G |
T |
6: 77,822,563 (GRCm39) |
S13R |
probably benign |
Het |
| Cyb5a |
G |
A |
18: 84,889,637 (GRCm39) |
G46D |
probably damaging |
Het |
| Daam1 |
T |
C |
12: 71,993,290 (GRCm39) |
V353A |
unknown |
Het |
| Ddx6 |
C |
T |
9: 44,545,465 (GRCm39) |
T417I |
probably damaging |
Het |
| Fcgbp |
C |
T |
7: 27,800,599 (GRCm39) |
|
probably benign |
Het |
| Gdi2 |
T |
C |
13: 3,598,954 (GRCm39) |
I46T |
possibly damaging |
Het |
| Gm3629 |
T |
C |
14: 17,805,586 (GRCm39) |
|
probably benign |
Het |
| Grap2 |
A |
T |
15: 80,532,049 (GRCm39) |
|
probably benign |
Het |
| Gsto2 |
T |
C |
19: 47,874,629 (GRCm39) |
|
probably benign |
Het |
| Gtf2a1 |
A |
T |
12: 91,542,527 (GRCm39) |
D57E |
possibly damaging |
Het |
| Hif1a |
A |
G |
12: 73,988,980 (GRCm39) |
I622M |
possibly damaging |
Het |
| Hmcn1 |
T |
C |
1: 150,685,477 (GRCm39) |
T328A |
probably benign |
Het |
| Ighv1-54 |
T |
C |
12: 115,157,389 (GRCm39) |
K86R |
probably benign |
Het |
| Igkv4-55 |
C |
T |
6: 69,584,360 (GRCm39) |
S84N |
probably damaging |
Het |
| Ilvbl |
T |
C |
10: 78,412,978 (GRCm39) |
S167P |
probably benign |
Het |
| Kcnn2 |
A |
G |
18: 45,725,259 (GRCm39) |
I252V |
possibly damaging |
Het |
| Mlip |
C |
A |
9: 77,088,633 (GRCm39) |
|
probably null |
Het |
| Ncbp1 |
C |
T |
4: 46,159,711 (GRCm39) |
T408M |
possibly damaging |
Het |
| Notch4 |
A |
G |
17: 34,787,134 (GRCm39) |
|
probably benign |
Het |
| Npepps |
A |
T |
11: 97,120,675 (GRCm39) |
C528* |
probably null |
Het |
| Nxf2 |
T |
C |
X: 133,857,201 (GRCm39) |
T163A |
probably benign |
Het |
| Or4c119 |
T |
C |
2: 88,987,485 (GRCm39) |
I11M |
possibly damaging |
Het |
| Phka1 |
A |
T |
X: 101,641,895 (GRCm39) |
|
probably benign |
Het |
| Ptpn13 |
T |
G |
5: 103,710,157 (GRCm39) |
L1564R |
probably damaging |
Het |
| Robo3 |
A |
G |
9: 37,338,387 (GRCm39) |
S343P |
possibly damaging |
Het |
| Smarca2 |
A |
G |
19: 26,693,582 (GRCm39) |
D1262G |
possibly damaging |
Het |
| Spns1 |
C |
T |
7: 125,972,941 (GRCm39) |
|
probably null |
Het |
| Srrm1 |
G |
A |
4: 135,052,415 (GRCm39) |
P658L |
unknown |
Het |
| Ttpal |
A |
G |
2: 163,449,369 (GRCm39) |
T75A |
probably damaging |
Het |
| Usp34 |
A |
G |
11: 23,301,652 (GRCm39) |
T359A |
probably benign |
Het |
| Zfp518a |
G |
A |
19: 40,903,061 (GRCm39) |
G997R |
probably damaging |
Het |
| Zic2 |
A |
T |
14: 122,715,957 (GRCm39) |
K360* |
probably null |
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 |
|
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 |
|
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 |
2015-04-16 |
Incidental Mutation