Incidental Mutation 'IGL01652:Stard3'
| ID |
102867 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Stard3
|
| Ensembl Gene |
ENSMUSG00000018167 |
| Gene Name |
StAR related lipid transfer domain containing 3 |
| Synonyms |
es64, Mln64 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL01652
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
98249194-98271938 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
T to G
at 98269559 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000018311
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000018311]
|
| AlphaFold |
Q61542 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000018311
|
| SMART Domains |
Protein: ENSMUSP00000018311
Gene: ENSMUSG00000018167
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
21 |
34 |
N/A |
INTRINSIC |
|
Pfam:MENTAL
|
48 |
214 |
1.1e-65 |
PFAM |
|
START
|
240 |
445 |
4.43e-67 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000130323
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143243
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148738
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152559
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154960
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155063
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of a subfamily of lipid trafficking proteins that are characterized by a C-terminal steroidogenic acute regulatory domain and an N-terminal metastatic lymph node 64 domain. The encoded protein localizes to the membranes of late endosomes and may be involved in exporting cholesterol. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Oct 2009]
PHENOTYPE: Mice homozygous for a truncated allele are viable and fertile and display mild defects in cholesterol metabolism. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 20 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Alk |
A |
T |
17: 72,910,526 (GRCm39) |
V60E |
probably damaging |
Het |
| Ank2 |
T |
C |
3: 126,726,690 (GRCm39) |
K868R |
probably benign |
Het |
| Ankrd13a |
A |
T |
5: 114,929,397 (GRCm39) |
D158V |
probably damaging |
Het |
| Arhgap12 |
G |
T |
18: 6,061,853 (GRCm39) |
N380K |
possibly damaging |
Het |
| Cpn1 |
A |
T |
19: 43,974,533 (GRCm39) |
F65L |
possibly damaging |
Het |
| Dlec1 |
T |
A |
9: 118,972,975 (GRCm39) |
H1496Q |
probably benign |
Het |
| Dock1 |
C |
T |
7: 134,379,226 (GRCm39) |
|
probably benign |
Het |
| Dok1 |
T |
C |
6: 83,009,543 (GRCm39) |
N143D |
probably damaging |
Het |
| Fcmr |
C |
T |
1: 130,806,244 (GRCm39) |
P363L |
probably benign |
Het |
| Galk2 |
A |
G |
2: 125,738,685 (GRCm39) |
T171A |
probably benign |
Het |
| Hrh3 |
G |
T |
2: 179,742,896 (GRCm39) |
P244Q |
possibly damaging |
Het |
| Icam1 |
T |
C |
9: 20,930,472 (GRCm39) |
Y109H |
probably damaging |
Het |
| Nup93 |
T |
C |
8: 95,023,187 (GRCm39) |
V132A |
possibly damaging |
Het |
| Or4c113 |
A |
T |
2: 88,884,913 (GRCm39) |
Y286N |
probably damaging |
Het |
| Pla2g4f |
T |
C |
2: 120,132,716 (GRCm39) |
I707V |
possibly damaging |
Het |
| Rpgrip1 |
G |
A |
14: 52,382,949 (GRCm39) |
|
probably benign |
Het |
| Sbf2 |
A |
T |
7: 110,046,327 (GRCm39) |
V290E |
probably damaging |
Het |
| Sufu |
T |
C |
19: 46,464,059 (GRCm39) |
Y424H |
probably damaging |
Het |
| Trim35 |
T |
G |
14: 66,546,250 (GRCm39) |
V339G |
probably damaging |
Het |
| Vmn1r80 |
A |
G |
7: 11,927,063 (GRCm39) |
I58V |
probably benign |
Het |
|
| Other mutations in Stard3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00340:Stard3
|
APN |
11 |
98,268,285 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL00498:Stard3
|
APN |
11 |
98,267,356 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
IGL02553:Stard3
|
APN |
11 |
98,267,389 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
IGL03160:Stard3
|
APN |
11 |
98,269,737 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0508:Stard3
|
UTSW |
11 |
98,263,140 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1619:Stard3
|
UTSW |
11 |
98,267,435 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4781:Stard3
|
UTSW |
11 |
98,263,160 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R5889:Stard3
|
UTSW |
11 |
98,266,361 (GRCm39) |
missense |
probably benign |
0.13 |
|
R6117:Stard3
|
UTSW |
11 |
98,263,088 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6406:Stard3
|
UTSW |
11 |
98,269,595 (GRCm39) |
missense |
probably benign |
0.06 |
|
R7290:Stard3
|
UTSW |
11 |
98,269,045 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7719:Stard3
|
UTSW |
11 |
98,266,502 (GRCm39) |
missense |
probably benign |
0.05 |
|
R9275:Stard3
|
UTSW |
11 |
98,262,931 (GRCm39) |
start gained |
probably benign |
|
|
R9278:Stard3
|
UTSW |
11 |
98,262,931 (GRCm39) |
start gained |
probably benign |
|
|
R9563:Stard3
|
UTSW |
11 |
98,270,797 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
| Posted On |
2014-01-21 |
Incidental Mutation