Incidental Mutation 'IGL01434:Stard10'
| ID |
84282 |
| 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 # |
IGL01434
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
100966293-100995833 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 100971187 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Methionine
at position 125
(V125M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000129408
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032927]
[ENSMUST00000163799]
[ENSMUST00000164479]
[ENSMUST00000172630]
[ENSMUST00000173270]
[ENSMUST00000210192]
|
| AlphaFold |
Q9JMD3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000032927
AA Change: V52M
PolyPhen 2
Score 0.185 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000032927
Gene: ENSMUSG00000030688
AA Change: V52M
| 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 |
probably benign
Transcript: ENSMUST00000163799
AA Change: V125M
PolyPhen 2
Score 0.430 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000129408
Gene: ENSMUSG00000030688
AA Change: V125M
| 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 |
probably benign
Transcript: ENSMUST00000164479
AA Change: V52M
PolyPhen 2
Score 0.185 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000133002
Gene: ENSMUSG00000030688
AA Change: V52M
| 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: V70M
|
| SMART Domains |
Protein: ENSMUSP00000127962
Gene: ENSMUSG00000030688
AA Change: V70M
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:START
|
46 |
223 |
8.5e-23 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000172630
AA Change: V52M
PolyPhen 2
Score 0.090 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000134138
Gene: ENSMUSG00000030688
AA Change: V52M
| 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: V65M
|
| SMART Domains |
Protein: ENSMUSP00000134156
Gene: ENSMUSG00000030688
AA Change: V65M
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:START
|
35 |
78 |
8e-22 |
BLAST |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000173270
AA Change: V52M
PolyPhen 2
Score 0.087 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000133955
Gene: ENSMUSG00000030688
AA Change: V52M
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:START
|
27 |
159 |
7.7e-10 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000210192
AA Change: V52M
PolyPhen 2
Score 0.185 (Sensitivity: 0.92; Specificity: 0.87)
|
| 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 |
|---|
| Acsm3 |
A |
G |
7: 119,380,297 (GRCm39) |
|
probably benign |
Het |
| Adcy7 |
A |
G |
8: 89,051,472 (GRCm39) |
N864S |
probably damaging |
Het |
| Anapc7 |
A |
G |
5: 122,576,279 (GRCm39) |
D302G |
probably benign |
Het |
| Atm |
A |
T |
9: 53,419,107 (GRCm39) |
C782S |
probably benign |
Het |
| Bicdl1 |
G |
A |
5: 115,808,215 (GRCm39) |
Q37* |
probably null |
Het |
| Cabin1 |
T |
C |
10: 75,561,420 (GRCm39) |
D1027G |
possibly damaging |
Het |
| Cbl |
T |
C |
9: 44,075,503 (GRCm39) |
I364V |
probably damaging |
Het |
| Ccer1 |
T |
C |
10: 97,529,459 (GRCm39) |
S41P |
unknown |
Het |
| Cenpf |
G |
A |
1: 189,390,065 (GRCm39) |
Q1256* |
probably null |
Het |
| Copa |
T |
A |
1: 171,947,128 (GRCm39) |
I1093N |
probably benign |
Het |
| Cped1 |
C |
T |
6: 22,017,004 (GRCm39) |
L118F |
probably damaging |
Het |
| Cplane2 |
T |
C |
4: 140,945,964 (GRCm39) |
V169A |
probably benign |
Het |
| Cstdc4 |
T |
A |
16: 36,006,777 (GRCm39) |
V37E |
probably benign |
Het |
| Dner |
T |
C |
1: 84,361,731 (GRCm39) |
H626R |
probably benign |
Het |
| Ears2 |
G |
A |
7: 121,662,311 (GRCm39) |
|
probably benign |
Het |
| Eif3c |
A |
G |
7: 126,155,582 (GRCm39) |
I562T |
probably damaging |
Het |
| Eml6 |
T |
C |
11: 29,769,090 (GRCm39) |
Y685C |
probably damaging |
Het |
| Garin1b |
T |
C |
6: 29,320,700 (GRCm39) |
V108A |
probably damaging |
Het |
| Gpt |
A |
G |
15: 76,582,982 (GRCm39) |
K321E |
probably damaging |
Het |
| Hspd1 |
C |
T |
1: 55,120,285 (GRCm39) |
G306R |
probably damaging |
Het |
| Kmt2c |
T |
C |
5: 25,614,306 (GRCm39) |
Y138C |
probably damaging |
Het |
| Lhcgr |
A |
G |
17: 89,049,865 (GRCm39) |
Y554H |
probably damaging |
Het |
| Nell1 |
A |
T |
7: 50,350,956 (GRCm39) |
K534N |
probably benign |
Het |
| Nob1 |
A |
G |
8: 108,151,360 (GRCm39) |
|
probably benign |
Het |
| Or13a17 |
G |
A |
7: 140,271,531 (GRCm39) |
A238T |
probably damaging |
Het |
| Phf12 |
C |
T |
11: 77,914,385 (GRCm39) |
P60L |
probably damaging |
Het |
| Prkdc |
A |
G |
16: 15,531,451 (GRCm39) |
E1358G |
probably benign |
Het |
| Rimbp3 |
A |
G |
16: 17,029,566 (GRCm39) |
T997A |
probably benign |
Het |
| Slc9a9 |
T |
A |
9: 94,901,247 (GRCm39) |
N393K |
possibly damaging |
Het |
| Sohlh2 |
T |
C |
3: 55,102,582 (GRCm39) |
S206P |
probably damaging |
Het |
| Tff2 |
G |
T |
17: 31,362,240 (GRCm39) |
|
probably null |
Het |
| Tha1 |
T |
C |
11: 117,759,425 (GRCm39) |
T355A |
probably benign |
Het |
| Tmem120a |
G |
T |
5: 135,765,864 (GRCm39) |
F127L |
possibly damaging |
Het |
| Tmem41b |
A |
G |
7: 109,577,909 (GRCm39) |
|
probably benign |
Het |
| Tonsl |
T |
C |
15: 76,515,302 (GRCm39) |
D1028G |
probably benign |
Het |
|
| Other mutations in Stard10 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00272:Stard10
|
APN |
7 |
100,971,173 (GRCm39) |
missense |
probably damaging |
0.98 |
|
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 |
2013-11-11 |
Incidental Mutation