Incidental Mutation 'R5080:Stard6'
| ID |
387102 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Stard6
|
| Ensembl Gene |
ENSMUSG00000079608 |
| Gene Name |
StAR related lipid transfer domain containing 6 |
| Synonyms |
4933429L05Rik, 1700011K09Rik, 4833424I06Rik |
| MMRRC Submission |
042669-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.121)
|
| Stock # |
R5080 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
18 |
| Chromosomal Location |
70605525-70634137 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 70629293 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 126
(I126F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000134511
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000114959]
[ENSMUST00000164223]
[ENSMUST00000168249]
[ENSMUST00000174118]
[ENSMUST00000174667]
|
| AlphaFold |
P59096 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000114959
AA Change: I126F
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000110609
Gene: ENSMUSG00000079608
AA Change: I126F
| Domain | Start | End | E-Value | Type |
|---|
|
START
|
6 |
208 |
8.76e-16 |
SMART |
|
low complexity region
|
215 |
229 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000164223
AA Change: I126F
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000126055
Gene: ENSMUSG00000079608
AA Change: I126F
| Domain | Start | End | E-Value | Type |
|---|
|
START
|
6 |
208 |
8.76e-16 |
SMART |
|
low complexity region
|
215 |
229 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000168249
AA Change: I126F
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000130991
Gene: ENSMUSG00000079608
AA Change: I126F
| Domain | Start | End | E-Value | Type |
|---|
|
START
|
6 |
208 |
8.76e-16 |
SMART |
|
low complexity region
|
215 |
229 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000173612
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000174118
AA Change: I126F
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000134511
Gene: ENSMUSG00000079608
AA Change: I126F
| Domain | Start | End | E-Value | Type |
|---|
|
START
|
6 |
208 |
8.76e-16 |
SMART |
|
low complexity region
|
215 |
229 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000174667
AA Change: I67F
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000133956
Gene: ENSMUSG00000079608
AA Change: I67F
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:START
|
4 |
98 |
9.6e-12 |
PFAM |
|
| Meta Mutation Damage Score |
0.2195 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.4%
- 10x: 96.4%
- 20x: 92.5%
|
| Validation Efficiency |
96% (54/56) |
| 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: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acod1 |
G |
A |
14: 103,286,744 (GRCm39) |
G16S |
possibly damaging |
Het |
| Adcy4 |
A |
T |
14: 56,009,832 (GRCm39) |
M740K |
probably damaging |
Het |
| Atp1a2 |
T |
C |
1: 172,112,012 (GRCm39) |
|
probably benign |
Het |
| Atrn |
T |
A |
2: 130,812,044 (GRCm39) |
I663N |
possibly damaging |
Het |
| Cacna2d1 |
T |
C |
5: 16,567,394 (GRCm39) |
|
probably null |
Het |
| Carf |
C |
A |
1: 60,189,772 (GRCm39) |
Q631K |
probably damaging |
Het |
| Ces1d |
T |
C |
8: 93,908,175 (GRCm39) |
D306G |
probably benign |
Het |
| Corin |
T |
A |
5: 72,511,194 (GRCm39) |
|
probably benign |
Het |
| Csf1r |
T |
C |
18: 61,257,373 (GRCm39) |
F575L |
probably damaging |
Het |
| Dcaf6 |
T |
C |
1: 165,247,690 (GRCm39) |
D181G |
probably damaging |
Het |
| Dnah11 |
C |
T |
12: 118,162,565 (GRCm39) |
M1I |
probably null |
Het |
| Dnah7b |
C |
T |
1: 46,221,540 (GRCm39) |
R1215* |
probably null |
Het |
| Dpp3 |
T |
A |
19: 4,965,108 (GRCm39) |
D464V |
probably benign |
Het |
| Drosha |
C |
A |
15: 12,842,229 (GRCm39) |
A344D |
probably benign |
Het |
| Fat3 |
G |
T |
9: 15,910,634 (GRCm39) |
S1789R |
probably benign |
Het |
| Fhip2a |
A |
T |
19: 57,361,713 (GRCm39) |
K134I |
probably damaging |
Het |
| Frg2f1 |
T |
C |
4: 119,388,230 (GRCm39) |
T90A |
possibly damaging |
Het |
| Frrs1 |
T |
C |
3: 116,696,585 (GRCm39) |
I544T |
probably benign |
Het |
| Gm20939 |
T |
C |
17: 95,184,419 (GRCm39) |
C356R |
probably damaging |
Het |
| Ifi206 |
T |
A |
1: 173,301,414 (GRCm39) |
I755F |
possibly damaging |
Het |
| Kntc1 |
T |
A |
5: 123,900,649 (GRCm39) |
V249E |
possibly damaging |
Het |
| Lama5 |
A |
T |
2: 179,848,993 (GRCm39) |
L230* |
probably null |
Het |
| Lce1e |
C |
T |
3: 92,615,137 (GRCm39) |
C70Y |
unknown |
Het |
| Ltbp2 |
T |
C |
12: 84,850,638 (GRCm39) |
N892S |
probably damaging |
Het |
| Mfsd4b5 |
T |
A |
10: 39,846,570 (GRCm39) |
M337L |
probably damaging |
Het |
| Noxo1 |
T |
A |
17: 24,918,331 (GRCm39) |
C164S |
probably damaging |
Het |
| Or2y1b |
G |
T |
11: 49,208,914 (GRCm39) |
M180I |
probably benign |
Het |
| Or5j3 |
G |
A |
2: 86,128,258 (GRCm39) |
V33M |
probably benign |
Het |
| Osbpl6 |
T |
C |
2: 76,354,429 (GRCm39) |
S15P |
probably benign |
Het |
| Pcdh17 |
A |
G |
14: 84,770,750 (GRCm39) |
Y1076C |
probably benign |
Het |
| Pik3c2a |
T |
A |
7: 115,947,509 (GRCm39) |
H1391L |
probably damaging |
Het |
| Plcg2 |
A |
G |
8: 118,316,742 (GRCm39) |
Y573C |
probably benign |
Het |
| Prpf3 |
T |
A |
3: 95,741,109 (GRCm39) |
H600L |
probably benign |
Het |
| Rilpl2 |
T |
C |
5: 124,607,876 (GRCm39) |
T115A |
probably benign |
Het |
| Rpl15-ps6 |
A |
G |
15: 52,341,446 (GRCm39) |
|
noncoding transcript |
Het |
| Serpini1 |
T |
C |
3: 75,523,967 (GRCm39) |
S192P |
probably damaging |
Het |
| Sp110 |
G |
T |
1: 85,523,776 (GRCm39) |
Y18* |
probably null |
Het |
| Strip2 |
T |
A |
6: 29,945,592 (GRCm39) |
L660H |
probably damaging |
Het |
| Tmed3 |
G |
A |
9: 89,581,825 (GRCm39) |
R213* |
probably null |
Het |
| Tns1 |
G |
T |
1: 73,992,099 (GRCm39) |
P860T |
probably damaging |
Het |
| Togaram1 |
T |
C |
12: 65,030,177 (GRCm39) |
S994P |
probably benign |
Het |
| Tomm34 |
G |
A |
2: 163,912,816 (GRCm39) |
|
probably benign |
Het |
| Trank1 |
G |
A |
9: 111,218,289 (GRCm39) |
E1890K |
probably damaging |
Het |
| Wasf3 |
C |
T |
5: 146,397,907 (GRCm39) |
H225Y |
probably benign |
Het |
| Wdr37 |
A |
T |
13: 8,897,710 (GRCm39) |
|
probably null |
Het |
| Zbtb7c |
A |
C |
18: 76,270,413 (GRCm39) |
D167A |
probably benign |
Het |
| Zkscan4 |
A |
G |
13: 21,665,498 (GRCm39) |
T158A |
probably benign |
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 |
|
|
IGL03144:Stard6
|
APN |
18 |
70,609,182 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CATACATGATGAAGTTCTTTGGGG -3'
(R):5'- TCTAAACAGCACCTCATGGGG -3'
Sequencing Primer
(F):5'- CTTTGGGGGACAATAAATCATTCGC -3'
(R):5'- AATACCTGGCCTGTGTATAGGAC -3'
|
| Posted On |
2016-06-06 |
Incidental Mutation