Incidental Mutation 'IGL00981:Sqle'
| ID |
29108 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Sqle
|
| Ensembl Gene |
ENSMUSG00000022351 |
| Gene Name |
squalene epoxidase |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL00981
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
15 |
| Chromosomal Location |
59186941-59203042 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 59198468 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 464
(V464A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000022977
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022977]
[ENSMUST00000100640]
|
| AlphaFold |
P52019 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000022977
AA Change: V464A
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000022977
Gene: ENSMUSG00000022351
AA Change: V464A
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
21 |
43 |
N/A |
INTRINSIC |
|
low complexity region
|
46 |
56 |
N/A |
INTRINSIC |
|
low complexity region
|
81 |
95 |
N/A |
INTRINSIC |
|
Pfam:FAD_binding_3
|
121 |
434 |
1.4e-22 |
PFAM |
|
Pfam:SE
|
275 |
546 |
1.3e-113 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000100640
AA Change: V432A
PolyPhen 2
Score 0.962 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000098205
Gene: ENSMUSG00000022351
AA Change: V432A
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
21 |
43 |
N/A |
INTRINSIC |
|
low complexity region
|
46 |
56 |
N/A |
INTRINSIC |
|
low complexity region
|
81 |
95 |
N/A |
INTRINSIC |
|
Pfam:FAD_binding_3
|
121 |
344 |
3.4e-18 |
PFAM |
|
Pfam:SE
|
275 |
370 |
3.5e-34 |
PFAM |
|
Pfam:SE
|
365 |
514 |
5.7e-64 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000161953
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000162142
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Squalene epoxidase catalyzes the first oxygenation step in sterol biosynthesis and is thought to be one of the rate-limiting enzymes in this pathway. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele die before E8.5 with a phenotype consistent with that found in mice with mutations affecting cholesterol synthesis. Mice heterozygous the allele exhibit improved Rett syndrome phenotypes. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930503L19Rik |
G |
A |
18: 70,586,404 (GRCm39) |
Q478* |
probably null |
Het |
| Armh4 |
A |
T |
14: 50,010,447 (GRCm39) |
L420Q |
probably damaging |
Het |
| Atp7b |
T |
C |
8: 22,517,543 (GRCm39) |
|
probably null |
Het |
| Bcan |
T |
A |
3: 87,905,139 (GRCm39) |
I2F |
possibly damaging |
Het |
| Boc |
A |
G |
16: 44,312,164 (GRCm39) |
S633P |
probably damaging |
Het |
| C2cd6 |
A |
G |
1: 59,117,104 (GRCm39) |
S130P |
probably damaging |
Het |
| Cacna1a |
T |
C |
8: 85,275,182 (GRCm39) |
F490L |
probably damaging |
Het |
| Carm1 |
T |
A |
9: 21,498,490 (GRCm39) |
D469E |
possibly damaging |
Het |
| Cdyl |
A |
T |
13: 36,000,096 (GRCm39) |
S126C |
probably damaging |
Het |
| Ceacam5 |
A |
T |
7: 17,479,458 (GRCm39) |
I192F |
probably benign |
Het |
| Cyp2b19 |
C |
T |
7: 26,462,886 (GRCm39) |
T256I |
possibly damaging |
Het |
| Dlgap5 |
C |
T |
14: 47,635,925 (GRCm39) |
E515K |
probably damaging |
Het |
| Eif3a |
A |
T |
19: 60,755,049 (GRCm39) |
D1044E |
unknown |
Het |
| Eif3i |
T |
A |
4: 129,488,862 (GRCm39) |
Y125F |
probably benign |
Het |
| Gnai1 |
T |
G |
5: 18,472,045 (GRCm39) |
N346T |
probably benign |
Het |
| Kcnd1 |
C |
T |
X: 7,702,672 (GRCm39) |
T629I |
probably benign |
Het |
| Mcc |
A |
T |
18: 44,582,416 (GRCm39) |
N578K |
probably damaging |
Het |
| Ncoa6 |
C |
T |
2: 155,248,099 (GRCm39) |
R1735Q |
probably damaging |
Het |
| Nlrp4d |
A |
T |
7: 10,116,021 (GRCm39) |
|
noncoding transcript |
Het |
| Nsun5 |
A |
T |
5: 135,404,249 (GRCm39) |
Q352L |
possibly damaging |
Het |
| Or14j6 |
G |
A |
17: 38,215,072 (GRCm39) |
V212M |
probably benign |
Het |
| Or2d2b |
C |
A |
7: 106,705,268 (GRCm39) |
E267* |
probably null |
Het |
| Or2d2b |
T |
A |
7: 106,705,269 (GRCm39) |
K266N |
probably benign |
Het |
| Or8g18 |
A |
G |
9: 39,148,901 (GRCm39) |
V276A |
probably benign |
Het |
| Pkdrej |
C |
T |
15: 85,703,857 (GRCm39) |
G693D |
probably damaging |
Het |
| Rpl10a-ps2 |
A |
T |
13: 8,990,566 (GRCm39) |
|
probably benign |
Het |
| Spink1 |
C |
T |
18: 43,870,159 (GRCm39) |
|
probably null |
Het |
| Trav6-4 |
A |
T |
14: 53,692,153 (GRCm39) |
T84S |
probably damaging |
Het |
| Trim33 |
T |
A |
3: 103,259,311 (GRCm39) |
|
probably benign |
Het |
| Txlng |
T |
C |
X: 161,567,368 (GRCm39) |
M319V |
probably benign |
Het |
| Wee1 |
A |
T |
7: 109,738,876 (GRCm39) |
E582D |
probably damaging |
Het |
|
| Other mutations in Sqle |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01396:Sqle
|
APN |
15 |
59,195,723 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02852:Sqle
|
APN |
15 |
59,197,920 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03037:Sqle
|
APN |
15 |
59,193,246 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT4431001:Sqle
|
UTSW |
15 |
59,195,509 (GRCm39) |
missense |
probably benign |
0.03 |
|
R1678:Sqle
|
UTSW |
15 |
59,196,358 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2047:Sqle
|
UTSW |
15 |
59,197,907 (GRCm39) |
missense |
probably benign |
0.08 |
|
R2075:Sqle
|
UTSW |
15 |
59,195,750 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2156:Sqle
|
UTSW |
15 |
59,195,578 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4773:Sqle
|
UTSW |
15 |
59,189,688 (GRCm39) |
missense |
possibly damaging |
0.54 |
|
R4878:Sqle
|
UTSW |
15 |
59,187,934 (GRCm39) |
missense |
probably benign |
0.08 |
|
R4915:Sqle
|
UTSW |
15 |
59,193,218 (GRCm39) |
nonsense |
probably null |
|
|
R5439:Sqle
|
UTSW |
15 |
59,202,753 (GRCm39) |
missense |
probably benign |
0.02 |
|
R5936:Sqle
|
UTSW |
15 |
59,202,678 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6374:Sqle
|
UTSW |
15 |
59,187,959 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R7286:Sqle
|
UTSW |
15 |
59,187,901 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7373:Sqle
|
UTSW |
15 |
59,189,658 (GRCm39) |
missense |
probably benign |
|
|
R7386:Sqle
|
UTSW |
15 |
59,202,603 (GRCm39) |
missense |
probably benign |
0.30 |
|
R7387:Sqle
|
UTSW |
15 |
59,202,603 (GRCm39) |
missense |
probably benign |
0.30 |
|
R7624:Sqle
|
UTSW |
15 |
59,202,603 (GRCm39) |
missense |
probably benign |
0.30 |
|
R7685:Sqle
|
UTSW |
15 |
59,187,890 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7731:Sqle
|
UTSW |
15 |
59,187,821 (GRCm39) |
missense |
probably benign |
0.20 |
|
R7938:Sqle
|
UTSW |
15 |
59,196,315 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8095:Sqle
|
UTSW |
15 |
59,193,276 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8213:Sqle
|
UTSW |
15 |
59,193,151 (GRCm39) |
splice site |
probably null |
|
|
R8353:Sqle
|
UTSW |
15 |
59,196,314 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R8961:Sqle
|
UTSW |
15 |
59,187,695 (GRCm39) |
start codon destroyed |
probably null |
1.00 |
|
R9049:Sqle
|
UTSW |
15 |
59,189,711 (GRCm39) |
missense |
probably benign |
|
|
R9214:Sqle
|
UTSW |
15 |
59,194,765 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9706:Sqle
|
UTSW |
15 |
59,201,625 (GRCm39) |
missense |
probably damaging |
0.99 |
|
X0027:Sqle
|
UTSW |
15 |
59,189,672 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Posted On |
2013-04-17 |
Incidental Mutation