Incidental Mutation 'IGL03274:Star'
| ID |
415358 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Star
|
| Ensembl Gene |
ENSMUSG00000031574 |
| Gene Name |
steroidogenic acute regulatory protein |
| Synonyms |
D8Ertd419e |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL03274
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
8 |
| Chromosomal Location |
26298502-26306010 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 26301082 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 138
(D138G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000148087
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000033979]
[ENSMUST00000068892]
[ENSMUST00000210565]
|
| AlphaFold |
P51557 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000033979
AA Change: D138G
PolyPhen 2
Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
|
| SMART Domains |
Protein: ENSMUSP00000033979
Gene: ENSMUSG00000031574
AA Change: D138G
| Domain | Start | End | E-Value | Type |
|---|
|
START
|
75 |
280 |
3.63e-72 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000068892
|
| SMART Domains |
Protein: ENSMUSP00000070957
Gene: ENSMUSG00000031575
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
27 |
N/A |
INTRINSIC |
|
low complexity region
|
36 |
59 |
N/A |
INTRINSIC |
|
PDB:3S32|A
|
90 |
275 |
1e-136 |
PDB |
|
Blast:PHD
|
103 |
146 |
2e-6 |
BLAST |
|
low complexity region
|
280 |
306 |
N/A |
INTRINSIC |
|
SPRY
|
413 |
577 |
4.87e-41 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000210565
AA Change: D138G
PolyPhen 2
Score 0.716 (Sensitivity: 0.86; Specificity: 0.92)
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene plays a key role in the acute regulation of steroid hormone synthesis by enhancing the conversion of cholesterol into pregnenolone. This protein permits the cleavage of cholesterol into pregnenolone by mediating the transport of cholesterol from the outer mitochondrial membrane to the inner mitochondrial membrane. Mutations in this gene are a cause of congenital lipoid adrenal hyperplasia (CLAH), also called lipoid CAH. A pseudogene of this gene is located on chromosome 13. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mice fail to thrive and die during the postnatal period due to adrenocortical insufficiency. Mice exhibit male pseudohermaprhoditism and show a progressive accumulation of lipids within steroidogenic cells of the adrenal glands and gonads. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adissp |
A |
T |
2: 130,995,512 (GRCm39) |
|
probably null |
Het |
| Anln |
C |
A |
9: 22,293,565 (GRCm39) |
R26M |
probably damaging |
Het |
| Capn15 |
A |
T |
17: 26,180,812 (GRCm39) |
S753T |
probably damaging |
Het |
| Ccdc62 |
A |
G |
5: 124,092,743 (GRCm39) |
N576S |
probably benign |
Het |
| Csmd3 |
T |
C |
15: 47,508,900 (GRCm39) |
D2895G |
probably damaging |
Het |
| Dspp |
T |
A |
5: 104,322,814 (GRCm39) |
V37E |
probably damaging |
Het |
| Efcab3 |
A |
T |
11: 104,611,919 (GRCm39) |
D587V |
probably benign |
Het |
| Efcab6 |
T |
C |
15: 83,752,450 (GRCm39) |
D1473G |
probably damaging |
Het |
| Ehhadh |
T |
C |
16: 21,582,090 (GRCm39) |
|
probably benign |
Het |
| Fbln1 |
T |
C |
15: 85,116,879 (GRCm39) |
|
probably null |
Het |
| Gbp9 |
A |
G |
5: 105,230,652 (GRCm39) |
V424A |
possibly damaging |
Het |
| Gda |
T |
C |
19: 21,394,371 (GRCm39) |
Y236C |
possibly damaging |
Het |
| Gm4884 |
A |
G |
7: 40,693,969 (GRCm39) |
E646G |
probably damaging |
Het |
| Gm4952 |
C |
A |
19: 12,600,960 (GRCm39) |
|
probably benign |
Het |
| Gm5422 |
G |
T |
10: 31,126,348 (GRCm39) |
|
noncoding transcript |
Het |
| Grin2b |
C |
T |
6: 135,757,253 (GRCm39) |
D403N |
possibly damaging |
Het |
| Hsf2bp |
G |
A |
17: 32,226,744 (GRCm39) |
R204C |
probably damaging |
Het |
| Il16 |
T |
C |
7: 83,310,442 (GRCm39) |
E488G |
probably damaging |
Het |
| Kat6b |
G |
T |
14: 21,659,831 (GRCm39) |
D212Y |
possibly damaging |
Het |
| Kctd2 |
A |
C |
11: 115,320,208 (GRCm39) |
I247L |
possibly damaging |
Het |
| Kel |
T |
A |
6: 41,664,929 (GRCm39) |
|
probably null |
Het |
| Krt20 |
A |
T |
11: 99,320,855 (GRCm39) |
|
probably benign |
Het |
| Litaf |
T |
C |
16: 10,784,433 (GRCm39) |
T26A |
probably damaging |
Het |
| N4bp2l2 |
G |
T |
5: 150,584,931 (GRCm39) |
Q350K |
probably damaging |
Het |
| Nav2 |
T |
G |
7: 49,011,847 (GRCm39) |
I26S |
probably damaging |
Het |
| Nfya |
A |
G |
17: 48,698,375 (GRCm39) |
Y162H |
probably damaging |
Het |
| Or2g25 |
C |
T |
17: 37,970,646 (GRCm39) |
A193T |
probably benign |
Het |
| Pbx4 |
A |
T |
8: 70,319,200 (GRCm39) |
S244C |
probably damaging |
Het |
| Pcdhb16 |
T |
C |
18: 37,612,285 (GRCm39) |
V415A |
probably benign |
Het |
| Rbbp8 |
A |
G |
18: 11,874,133 (GRCm39) |
|
probably benign |
Het |
| Sp100 |
T |
C |
1: 85,635,025 (GRCm39) |
|
probably benign |
Het |
| Spag16 |
A |
G |
1: 69,883,540 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Star |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00970:Star
|
APN |
8 |
26,302,894 (GRCm39) |
splice site |
probably null |
|
|
IGL01337:Star
|
APN |
8 |
26,299,892 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02165:Star
|
APN |
8 |
26,302,843 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
BB001:Star
|
UTSW |
8 |
26,299,883 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
BB011:Star
|
UTSW |
8 |
26,299,883 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R1327:Star
|
UTSW |
8 |
26,299,865 (GRCm39) |
missense |
probably benign |
0.45 |
|
R3816:Star
|
UTSW |
8 |
26,299,905 (GRCm39) |
missense |
probably benign |
0.15 |
|
R4790:Star
|
UTSW |
8 |
26,298,644 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5490:Star
|
UTSW |
8 |
26,299,945 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6362:Star
|
UTSW |
8 |
26,301,835 (GRCm39) |
missense |
probably benign |
0.18 |
|
R6964:Star
|
UTSW |
8 |
26,301,851 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7924:Star
|
UTSW |
8 |
26,299,883 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R8805:Star
|
UTSW |
8 |
26,299,577 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8882:Star
|
UTSW |
8 |
26,302,897 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9126:Star
|
UTSW |
8 |
26,302,832 (GRCm39) |
missense |
probably benign |
0.10 |
|
| Posted On |
2016-08-02 |
Incidental Mutation