Incidental Mutation 'IGL00272:Stard10'
| ID |
14260 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Stard10
|
| Ensembl Gene |
ENSMUSG00000030688 |
| Gene Name |
StAR related lipid transfer domain containing 10 |
| Synonyms |
Pctpl, TISP-81, PC-TP2, PCTP2, Sdccag28, CGI-52, NY-C0-28 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL00272
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
100966293-100995833 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 100971173 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Phenylalanine
at position 47
(Y47F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000134138
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032927]
[ENSMUST00000163799]
[ENSMUST00000164479]
[ENSMUST00000172630]
[ENSMUST00000173270]
[ENSMUST00000210192]
|
| AlphaFold |
Q9JMD3 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000032927
AA Change: Y47F
PolyPhen 2
Score 0.868 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000032927
Gene: ENSMUSG00000030688
AA Change: Y47F
| Domain | Start | End | E-Value | Type |
|---|
|
START
|
21 |
226 |
8.7e-11 |
SMART |
|
low complexity region
|
239 |
253 |
N/A |
INTRINSIC |
|
low complexity region
|
270 |
284 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000163799
AA Change: Y120F
PolyPhen 2
Score 0.943 (Sensitivity: 0.80; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000129408
Gene: ENSMUSG00000030688
AA Change: Y120F
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
38 |
N/A |
INTRINSIC |
|
low complexity region
|
41 |
48 |
N/A |
INTRINSIC |
|
START
|
94 |
299 |
8.7e-11 |
SMART |
|
low complexity region
|
312 |
326 |
N/A |
INTRINSIC |
|
low complexity region
|
343 |
357 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000164479
AA Change: Y47F
PolyPhen 2
Score 0.868 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000133002
Gene: ENSMUSG00000030688
AA Change: Y47F
| Domain | Start | End | E-Value | Type |
|---|
|
START
|
21 |
226 |
8.7e-11 |
SMART |
|
low complexity region
|
239 |
253 |
N/A |
INTRINSIC |
|
low complexity region
|
270 |
284 |
N/A |
INTRINSIC |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000167888
AA Change: Y65F
|
| SMART Domains |
Protein: ENSMUSP00000127962
Gene: ENSMUSG00000030688
AA Change: Y65F
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:START
|
46 |
223 |
8.5e-23 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000172630
AA Change: Y47F
PolyPhen 2
Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000134138
Gene: ENSMUSG00000030688
AA Change: Y47F
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:START
|
27 |
150 |
8e-8 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000172644
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000172662
AA Change: Y60F
|
| SMART Domains |
Protein: ENSMUSP00000134156
Gene: ENSMUSG00000030688
AA Change: Y60F
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:START
|
35 |
78 |
8e-22 |
BLAST |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000173270
AA Change: Y47F
PolyPhen 2
Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000133955
Gene: ENSMUSG00000030688
AA Change: Y47F
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:START
|
27 |
159 |
7.7e-10 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000210192
AA Change: Y47F
PolyPhen 2
Score 0.868 (Sensitivity: 0.83; Specificity: 0.93)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000174291
|
| SMART Domains |
Protein: ENSMUSP00000133985
Gene: ENSMUSG00000030688
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
6 |
13 |
N/A |
INTRINSIC |
|
START
|
14 |
218 |
2.16e-6 |
SMART |
|
low complexity region
|
231 |
245 |
N/A |
INTRINSIC |
|
low complexity region
|
262 |
276 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000174083
|
| SMART Domains |
Protein: ENSMUSP00000134724
Gene: ENSMUSG00000030688
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:START
|
6 |
157 |
4.3e-19 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Mice homozygous for a knock-out allele exhibit altered bile acid homeostasis. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700030J22Rik |
A |
G |
8: 117,700,279 (GRCm39) |
V41A |
probably damaging |
Het |
| Ankrd12 |
C |
T |
17: 66,293,169 (GRCm39) |
V755I |
probably benign |
Het |
| Arrdc3 |
T |
C |
13: 81,038,691 (GRCm39) |
S218P |
probably damaging |
Het |
| Bzw1 |
T |
C |
1: 58,442,101 (GRCm39) |
V292A |
possibly damaging |
Het |
| Cers2 |
T |
C |
3: 95,229,211 (GRCm39) |
Y228H |
probably damaging |
Het |
| Dnaaf6 |
A |
G |
X: 139,006,711 (GRCm39) |
I197V |
probably benign |
Het |
| Egf |
C |
T |
3: 129,505,098 (GRCm39) |
M625I |
probably benign |
Het |
| Fbxw8 |
A |
T |
5: 118,206,162 (GRCm39) |
H595Q |
probably benign |
Het |
| Fshr |
T |
A |
17: 89,292,699 (GRCm39) |
I660F |
probably benign |
Het |
| Gapdh |
C |
T |
6: 125,139,470 (GRCm39) |
V267M |
probably damaging |
Het |
| Ginm1 |
T |
C |
10: 7,668,460 (GRCm39) |
|
probably benign |
Het |
| Gja1 |
A |
G |
10: 56,264,418 (GRCm39) |
D259G |
probably benign |
Het |
| Gm21814 |
T |
A |
6: 149,483,502 (GRCm39) |
|
noncoding transcript |
Het |
| Gm26870 |
T |
C |
9: 3,002,340 (GRCm39) |
|
probably benign |
Het |
| Habp2 |
G |
A |
19: 56,306,264 (GRCm39) |
C482Y |
probably damaging |
Het |
| Knl1 |
A |
C |
2: 118,894,564 (GRCm39) |
N79T |
probably damaging |
Het |
| Lama3 |
G |
A |
18: 12,624,605 (GRCm39) |
C1450Y |
probably damaging |
Het |
| Lats2 |
T |
C |
14: 57,929,026 (GRCm39) |
T950A |
probably benign |
Het |
| Map2k2 |
T |
A |
10: 80,956,907 (GRCm39) |
M95K |
probably damaging |
Het |
| Med12l |
T |
A |
3: 58,949,757 (GRCm39) |
I160N |
probably damaging |
Het |
| Or9m1b |
A |
G |
2: 87,836,988 (GRCm39) |
S45P |
probably damaging |
Het |
| Or9m2 |
A |
T |
2: 87,820,782 (GRCm39) |
D109V |
probably damaging |
Het |
| Pes1 |
T |
C |
11: 3,926,803 (GRCm39) |
S362P |
probably damaging |
Het |
| Ppp6r2 |
G |
T |
15: 89,170,016 (GRCm39) |
A844S |
probably benign |
Het |
| Rnf130 |
A |
G |
11: 49,984,623 (GRCm39) |
I308V |
probably damaging |
Het |
| Scn11a |
T |
C |
9: 119,645,669 (GRCm39) |
N95S |
probably damaging |
Het |
| Shoc1 |
A |
G |
4: 59,086,961 (GRCm39) |
F284L |
probably benign |
Het |
| Skint2 |
A |
G |
4: 112,481,409 (GRCm39) |
T91A |
probably damaging |
Het |
| Smg1 |
A |
G |
7: 117,797,494 (GRCm39) |
|
probably benign |
Het |
| Snapc1 |
A |
G |
12: 74,015,148 (GRCm39) |
|
probably null |
Het |
| Tenm3 |
C |
T |
8: 48,870,095 (GRCm39) |
V233I |
probably damaging |
Het |
| Tex14 |
G |
A |
11: 87,426,469 (GRCm39) |
S1165N |
probably damaging |
Het |
| Unc5a |
A |
G |
13: 55,143,633 (GRCm39) |
I106V |
probably benign |
Het |
| Vps54 |
T |
A |
11: 21,227,909 (GRCm39) |
Y275N |
possibly damaging |
Het |
| Wdr87-ps |
G |
T |
7: 29,237,047 (GRCm39) |
|
noncoding transcript |
Het |
|
| Other mutations in Stard10 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01434:Stard10
|
APN |
7 |
100,971,187 (GRCm39) |
missense |
probably benign |
0.43 |
|
IGL02815:Stard10
|
APN |
7 |
100,993,205 (GRCm39) |
missense |
probably benign |
0.12 |
|
IGL03383:Stard10
|
APN |
7 |
100,991,777 (GRCm39) |
missense |
probably damaging |
0.96 |
|
Ill_starred
|
UTSW |
7 |
100,992,343 (GRCm39) |
splice site |
probably null |
|
|
BB002:Stard10
|
UTSW |
7 |
100,991,838 (GRCm39) |
missense |
probably damaging |
1.00 |
|
BB012:Stard10
|
UTSW |
7 |
100,991,838 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1544:Stard10
|
UTSW |
7 |
100,993,233 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3891:Stard10
|
UTSW |
7 |
100,993,137 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R4612:Stard10
|
UTSW |
7 |
100,994,877 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R5715:Stard10
|
UTSW |
7 |
100,971,110 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6191:Stard10
|
UTSW |
7 |
100,992,468 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R7156:Stard10
|
UTSW |
7 |
100,995,258 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7159:Stard10
|
UTSW |
7 |
100,992,343 (GRCm39) |
splice site |
probably null |
|
|
R7174:Stard10
|
UTSW |
7 |
100,995,226 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R7719:Stard10
|
UTSW |
7 |
100,995,320 (GRCm39) |
missense |
not run |
|
|
R7925:Stard10
|
UTSW |
7 |
100,991,838 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8076:Stard10
|
UTSW |
7 |
100,993,176 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8939:Stard10
|
UTSW |
7 |
100,991,847 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2012-12-06 |
Incidental Mutation