Incidental Mutation 'R6140:Lss'
ID |
488543 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Lss
|
Ensembl Gene |
ENSMUSG00000033105 |
Gene Name |
lanosterol synthase |
Synonyms |
Osc, D10Ertd116e, 2810025N20Rik |
MMRRC Submission |
044287-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R6140 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
10 |
Chromosomal Location |
76367422-76392972 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 76386522 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Histidine
at position 642
(Y642H)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000046856
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000048678]
|
AlphaFold |
Q8BLN5 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000048678
AA Change: Y642H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000046856 Gene: ENSMUSG00000033105 AA Change: Y642H
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: ENSMUST00000127576
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000160671
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000162282
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000162475
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000162848
|
Meta Mutation Damage Score |
0.9386 |
Coding Region Coverage |
- 1x: 99.8%
- 3x: 99.2%
- 10x: 96.9%
- 20x: 91.8%
|
Validation Efficiency |
100% (46/46) |
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: 45 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2410004P03Rik |
T |
C |
12: 17,055,923 (GRCm39) |
|
probably benign |
Het |
Adgra2 |
A |
T |
8: 27,605,433 (GRCm39) |
R593W |
probably damaging |
Het |
Agfg2 |
T |
C |
5: 137,665,347 (GRCm39) |
Q136R |
probably damaging |
Het |
Ankrd42 |
T |
C |
7: 92,241,036 (GRCm39) |
|
probably null |
Het |
Baz2b |
T |
C |
2: 59,742,871 (GRCm39) |
D1643G |
probably damaging |
Het |
Ccdc171 |
C |
T |
4: 83,614,554 (GRCm39) |
Q1060* |
probably null |
Het |
Cela1 |
C |
T |
15: 100,579,037 (GRCm39) |
R207H |
probably benign |
Het |
Cfhr4 |
A |
G |
1: 139,660,133 (GRCm39) |
V664A |
probably damaging |
Het |
Clic6 |
A |
G |
16: 92,336,380 (GRCm39) |
R563G |
probably damaging |
Het |
Cspg4 |
A |
T |
9: 56,804,508 (GRCm39) |
H1773L |
probably benign |
Het |
Ddrgk1 |
A |
G |
2: 130,500,534 (GRCm39) |
V204A |
probably benign |
Het |
Dhrs7c |
A |
T |
11: 67,705,900 (GRCm39) |
T218S |
probably damaging |
Het |
Dlgap4 |
A |
T |
2: 156,604,649 (GRCm39) |
|
probably null |
Het |
Hgd |
A |
T |
16: 37,410,075 (GRCm39) |
Y37F |
probably benign |
Het |
Hmcn1 |
A |
C |
1: 150,608,597 (GRCm39) |
N1528K |
probably damaging |
Het |
Hps3 |
A |
G |
3: 20,051,151 (GRCm39) |
F843S |
probably damaging |
Het |
Ifih1 |
A |
G |
2: 62,431,804 (GRCm39) |
F800S |
possibly damaging |
Het |
Igsf21 |
T |
A |
4: 139,834,684 (GRCm39) |
T63S |
probably benign |
Het |
Il18rap |
T |
G |
1: 40,564,212 (GRCm39) |
M110R |
probably benign |
Het |
Kcnk2 |
G |
T |
1: 188,942,104 (GRCm39) |
H384Q |
probably damaging |
Het |
Lima1 |
C |
T |
15: 99,678,939 (GRCm39) |
V341M |
probably damaging |
Het |
Lins1 |
T |
C |
7: 66,361,672 (GRCm39) |
L441P |
probably damaging |
Het |
Mrc2 |
A |
G |
11: 105,237,615 (GRCm39) |
T1098A |
probably benign |
Het |
Nf1 |
T |
A |
11: 79,364,146 (GRCm39) |
|
probably null |
Het |
Nrdc |
G |
T |
4: 108,906,308 (GRCm39) |
A730S |
probably damaging |
Het |
Nup214 |
C |
T |
2: 31,941,808 (GRCm39) |
T72I |
possibly damaging |
Het |
Or6c213 |
T |
G |
10: 129,574,523 (GRCm39) |
K88Q |
possibly damaging |
Het |
Or8g33 |
A |
G |
9: 39,337,543 (GRCm39) |
S275P |
possibly damaging |
Het |
Or8k35 |
A |
T |
2: 86,424,448 (GRCm39) |
C241* |
probably null |
Het |
Oxt |
A |
G |
2: 130,418,191 (GRCm39) |
Y21C |
probably damaging |
Het |
Pla2g12b |
G |
A |
10: 59,257,263 (GRCm39) |
|
probably benign |
Het |
Ralgapb |
T |
C |
2: 158,298,492 (GRCm39) |
V907A |
probably damaging |
Het |
Rnls |
A |
T |
19: 33,115,600 (GRCm39) |
D157E |
probably damaging |
Het |
Slc7a14 |
C |
A |
3: 31,291,697 (GRCm39) |
V194L |
probably benign |
Het |
Slc7a7 |
G |
A |
14: 54,616,515 (GRCm39) |
T189I |
probably damaging |
Het |
Snupn |
C |
A |
9: 56,890,108 (GRCm39) |
Q310K |
possibly damaging |
Het |
Ssh1 |
A |
G |
5: 114,080,692 (GRCm39) |
Y891H |
probably benign |
Het |
Suclg2 |
T |
C |
6: 95,546,702 (GRCm39) |
D258G |
probably damaging |
Het |
Tpk1 |
A |
T |
6: 43,400,635 (GRCm39) |
M129K |
probably benign |
Het |
Ubr3 |
A |
G |
2: 69,803,673 (GRCm39) |
I1088V |
probably benign |
Het |
Vmn1r3 |
A |
G |
4: 3,185,031 (GRCm39) |
I92T |
probably damaging |
Het |
Vmn2r69 |
G |
A |
7: 85,060,657 (GRCm39) |
S309F |
probably damaging |
Het |
Wsb1 |
A |
T |
11: 79,132,444 (GRCm39) |
H325Q |
probably damaging |
Het |
Zfp263 |
A |
G |
16: 3,566,081 (GRCm39) |
S281G |
probably benign |
Het |
Zfp507 |
A |
G |
7: 35,493,613 (GRCm39) |
S477P |
probably damaging |
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 |
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 |
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 |
|
|
Predicted Primers |
PCR Primer
(F):5'- CATATCCACTCACTTCTGCAGG -3'
(R):5'- AGTCCTGTGGCTACTTTCAC -3'
Sequencing Primer
(F):5'- TCCCATGACCCTGAGGCAG -3'
(R):5'- AGTCCTGTGGCTACTTTCACATCTTC -3'
|
Posted On |
2017-10-10 |