Incidental Mutation 'IGL03144:Stard6'
| ID |
410802 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Stard6
|
| Ensembl Gene |
ENSMUSG00000079608 |
| Gene Name |
StAR related lipid transfer domain containing 6 |
| Synonyms |
4933429L05Rik, 1700011K09Rik, 4833424I06Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.120)
|
| Stock # |
IGL03144
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
18 |
| Chromosomal Location |
70605525-70634137 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 70609182 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Phenylalanine
at position 3
(Y3F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000133956
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000067556]
[ENSMUST00000114959]
[ENSMUST00000164223]
[ENSMUST00000168249]
[ENSMUST00000173951]
[ENSMUST00000174118]
[ENSMUST00000174667]
[ENSMUST00000212539]
[ENSMUST00000212683]
|
| AlphaFold |
P59096 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000067556
|
| SMART Domains |
Protein: ENSMUSP00000065118
Gene: ENSMUSG00000044906
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
15 |
40 |
N/A |
INTRINSIC |
|
Pfam:LAS2
|
161 |
235 |
2.8e-26 |
PFAM |
|
Pfam:LAS2
|
325 |
387 |
9.2e-17 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000114959
AA Change: Y3F
PolyPhen 2
Score 0.034 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000110609
Gene: ENSMUSG00000079608
AA Change: Y3F
| Domain | Start | End | E-Value | Type |
|---|
|
START
|
6 |
208 |
8.76e-16 |
SMART |
|
low complexity region
|
215 |
229 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000164223
AA Change: Y3F
PolyPhen 2
Score 0.034 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000126055
Gene: ENSMUSG00000079608
AA Change: Y3F
| Domain | Start | End | E-Value | Type |
|---|
|
START
|
6 |
208 |
8.76e-16 |
SMART |
|
low complexity region
|
215 |
229 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000168249
AA Change: Y3F
PolyPhen 2
Score 0.034 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000130991
Gene: ENSMUSG00000079608
AA Change: Y3F
| Domain | Start | End | E-Value | Type |
|---|
|
START
|
6 |
208 |
8.76e-16 |
SMART |
|
low complexity region
|
215 |
229 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000173951
AA Change: Y3F
PolyPhen 2
Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000134211
Gene: ENSMUSG00000079608
AA Change: Y3F
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:START
|
1 |
54 |
8e-18 |
BLAST |
|
PDB:2MOU|A
|
1 |
54 |
3e-17 |
PDB |
|
SCOP:d1em2a_
|
1 |
54 |
2e-11 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000174118
AA Change: Y3F
PolyPhen 2
Score 0.034 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000134511
Gene: ENSMUSG00000079608
AA Change: Y3F
| Domain | Start | End | E-Value | Type |
|---|
|
START
|
6 |
208 |
8.76e-16 |
SMART |
|
low complexity region
|
215 |
229 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000174667
AA Change: Y3F
PolyPhen 2
Score 0.528 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000133956
Gene: ENSMUSG00000079608
AA Change: Y3F
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:START
|
4 |
98 |
9.6e-12 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000212539
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000212683
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Cholesterol homeostasis is regulated, at least in part, by sterol regulatory element (SRE)-binding proteins (e.g., SREBP1; MIM 184756) and by liver X receptors (e.g., LXRA; MIM 602423). Upon sterol depletion, LXRs are inactive and SREBPs are cleaved, after which they bind promoter SREs and activate genes involved in cholesterol biosynthesis and uptake. Sterol transport is mediated by vesicles or by soluble protein carriers, such as steroidogenic acute regulatory protein (STAR; MIM 600617). STAR is homologous to a family of proteins containing a 200- to 210-amino acid STAR-related lipid transfer (START) domain, including STARD6 (Soccio et al., 2002 [PubMed 12011452]).[supplied by OMIM, Mar 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca3 |
C |
A |
17: 24,600,938 (GRCm39) |
Q451K |
probably benign |
Het |
| Acly |
A |
T |
11: 100,405,909 (GRCm39) |
D294E |
possibly damaging |
Het |
| Arid3a |
C |
T |
10: 79,782,316 (GRCm39) |
|
probably benign |
Het |
| Ascc3 |
T |
C |
10: 50,643,539 (GRCm39) |
V1830A |
probably benign |
Het |
| Atp6v1b1 |
T |
C |
6: 83,735,333 (GRCm39) |
V467A |
probably benign |
Het |
| Ccdc171 |
A |
T |
4: 83,736,327 (GRCm39) |
I1233L |
probably damaging |
Het |
| Ccdc74a |
C |
A |
16: 17,466,730 (GRCm39) |
Q146K |
possibly damaging |
Het |
| Cdh26 |
A |
G |
2: 178,109,967 (GRCm39) |
D420G |
probably damaging |
Het |
| Ceacam20 |
T |
C |
7: 19,705,444 (GRCm39) |
V145A |
possibly damaging |
Het |
| Cmya5 |
C |
A |
13: 93,227,376 (GRCm39) |
A2571S |
probably damaging |
Het |
| Cog2 |
T |
C |
8: 125,267,763 (GRCm39) |
S360P |
probably damaging |
Het |
| Col26a1 |
G |
T |
5: 136,794,202 (GRCm39) |
T132N |
probably damaging |
Het |
| Col6a2 |
T |
A |
10: 76,450,259 (GRCm39) |
H224L |
probably benign |
Het |
| Cpm |
C |
T |
10: 117,519,319 (GRCm39) |
S409L |
probably benign |
Het |
| Dock4 |
G |
T |
12: 40,742,906 (GRCm39) |
|
probably benign |
Het |
| Dpy19l2 |
T |
A |
9: 24,557,603 (GRCm39) |
N391Y |
possibly damaging |
Het |
| Exosc9 |
G |
A |
3: 36,608,284 (GRCm39) |
G126D |
probably damaging |
Het |
| Eya3 |
T |
C |
4: 132,420,453 (GRCm39) |
S256P |
probably benign |
Het |
| Fat3 |
T |
C |
9: 16,286,541 (GRCm39) |
D994G |
probably damaging |
Het |
| Fat4 |
A |
G |
3: 39,011,008 (GRCm39) |
Q2036R |
possibly damaging |
Het |
| Fryl |
T |
C |
5: 73,258,798 (GRCm39) |
Q662R |
probably null |
Het |
| Gm13271 |
A |
G |
4: 88,673,636 (GRCm39) |
R178G |
probably benign |
Het |
| Gpr165 |
T |
A |
X: 95,760,560 (GRCm39) |
L279Q |
probably damaging |
Het |
| Htr1b |
A |
G |
9: 81,513,998 (GRCm39) |
L203P |
probably damaging |
Het |
| Kcnb2 |
T |
C |
1: 15,780,112 (GRCm39) |
L328P |
probably damaging |
Het |
| Klhl26 |
C |
T |
8: 70,905,214 (GRCm39) |
R198H |
probably damaging |
Het |
| Nhsl2 |
A |
G |
X: 101,123,115 (GRCm39) |
R973G |
possibly damaging |
Het |
| Nmi |
A |
T |
2: 51,842,546 (GRCm39) |
F182Y |
probably damaging |
Het |
| Nop2 |
T |
A |
6: 125,114,475 (GRCm39) |
|
probably null |
Het |
| Nrn1 |
C |
A |
13: 36,914,080 (GRCm39) |
|
probably null |
Het |
| Ooep |
G |
T |
9: 78,285,289 (GRCm39) |
A109E |
possibly damaging |
Het |
| Or1j21 |
A |
G |
2: 36,684,093 (GRCm39) |
T282A |
probably benign |
Het |
| Pan3 |
T |
C |
5: 147,387,591 (GRCm39) |
|
probably benign |
Het |
| Pcdhb6 |
A |
G |
18: 37,467,459 (GRCm39) |
N127D |
probably damaging |
Het |
| Rabgap1 |
G |
A |
2: 37,430,544 (GRCm39) |
R695H |
probably damaging |
Het |
| Rxrg |
G |
A |
1: 167,426,327 (GRCm39) |
G3R |
possibly damaging |
Het |
| Slc17a3 |
T |
C |
13: 24,030,423 (GRCm39) |
M178T |
probably benign |
Het |
| Slc39a8 |
A |
G |
3: 135,589,971 (GRCm39) |
E287G |
probably benign |
Het |
| Slc44a5 |
G |
T |
3: 153,949,177 (GRCm39) |
D217Y |
possibly damaging |
Het |
| Slc4a10 |
G |
T |
2: 62,080,810 (GRCm39) |
V346L |
probably benign |
Het |
| Slc9a4 |
T |
C |
1: 40,651,362 (GRCm39) |
Y547H |
probably damaging |
Het |
| St6galnac3 |
A |
C |
3: 152,911,164 (GRCm39) |
Y266D |
probably damaging |
Het |
| Stk25 |
C |
A |
1: 93,556,858 (GRCm39) |
L53F |
probably damaging |
Het |
| Tep1 |
A |
T |
14: 51,081,474 (GRCm39) |
|
probably benign |
Het |
| Tmem151a |
T |
A |
19: 5,135,400 (GRCm39) |
M1L |
probably benign |
Het |
| Trim10 |
T |
C |
17: 37,187,740 (GRCm39) |
S319P |
probably damaging |
Het |
| Trmt44 |
G |
T |
5: 35,721,766 (GRCm39) |
P466T |
probably benign |
Het |
| Unc79 |
T |
C |
12: 103,008,401 (GRCm39) |
I256T |
probably damaging |
Het |
| Vmn2r125 |
G |
T |
4: 156,702,314 (GRCm39) |
L33F |
possibly damaging |
Het |
|
| Other mutations in Stard6 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00754:Stard6
|
APN |
18 |
70,616,559 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02403:Stard6
|
APN |
18 |
70,629,183 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
IGL02934:Stard6
|
APN |
18 |
70,629,175 (GRCm39) |
splice site |
probably benign |
|
|
R0344:Stard6
|
UTSW |
18 |
70,629,186 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2850:Stard6
|
UTSW |
18 |
70,616,522 (GRCm39) |
missense |
probably benign |
0.20 |
|
R2896:Stard6
|
UTSW |
18 |
70,609,459 (GRCm39) |
missense |
probably benign |
0.02 |
|
R3236:Stard6
|
UTSW |
18 |
70,633,557 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4532:Stard6
|
UTSW |
18 |
70,616,605 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4959:Stard6
|
UTSW |
18 |
70,631,631 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R4973:Stard6
|
UTSW |
18 |
70,631,631 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R5080:Stard6
|
UTSW |
18 |
70,629,293 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6380:Stard6
|
UTSW |
18 |
70,609,459 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7331:Stard6
|
UTSW |
18 |
70,616,553 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7396:Stard6
|
UTSW |
18 |
70,633,506 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R7399:Stard6
|
UTSW |
18 |
70,631,718 (GRCm39) |
splice site |
probably null |
|
|
R8002:Stard6
|
UTSW |
18 |
70,633,597 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R9512:Stard6
|
UTSW |
18 |
70,633,601 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Posted On |
2016-08-02 |
Incidental Mutation