Incidental Mutation 'R3891:Stard10'
| ID |
310393 |
| Institutional Source |
Beutler Lab
|
| 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 |
| MMRRC Submission |
040803-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R3891 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
100966293-100995833 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 100993137 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Glutamine
at position 231
(R231Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000129408
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032927]
[ENSMUST00000107010]
[ENSMUST00000163799]
[ENSMUST00000164479]
[ENSMUST00000172630]
[ENSMUST00000210192]
[ENSMUST00000173270]
|
| AlphaFold |
Q9JMD3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000032927
AA Change: R158Q
PolyPhen 2
Score 0.222 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000032927
Gene: ENSMUSG00000030688
AA Change: R158Q
| 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: ENSMUST00000107010
|
| SMART Domains |
Protein: ENSMUSP00000102624
Gene: ENSMUSG00000032812
| Domain | Start | End | E-Value | Type |
|---|
|
SAM
|
3 |
70 |
1.72e-7 |
SMART |
|
low complexity region
|
92 |
104 |
N/A |
INTRINSIC |
|
low complexity region
|
115 |
126 |
N/A |
INTRINSIC |
|
low complexity region
|
135 |
146 |
N/A |
INTRINSIC |
|
low complexity region
|
151 |
167 |
N/A |
INTRINSIC |
|
low complexity region
|
197 |
227 |
N/A |
INTRINSIC |
|
low complexity region
|
267 |
285 |
N/A |
INTRINSIC |
|
PH
|
330 |
423 |
2.62e-17 |
SMART |
|
PH
|
443 |
533 |
3.6e-6 |
SMART |
|
ArfGap
|
537 |
663 |
2.4e-22 |
SMART |
|
PH
|
746 |
854 |
1.23e-13 |
SMART |
|
PH
|
864 |
958 |
1.08e0 |
SMART |
|
RhoGAP
|
970 |
1152 |
1.35e-63 |
SMART |
|
Pfam:RA
|
1174 |
1263 |
1.9e-10 |
PFAM |
|
PH
|
1277 |
1389 |
8.58e-13 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000163799
AA Change: R231Q
PolyPhen 2
Score 0.485 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000129408
Gene: ENSMUSG00000030688
AA Change: R231Q
| 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: R158Q
PolyPhen 2
Score 0.222 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000133002
Gene: ENSMUSG00000030688
AA Change: R158Q
| 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: R176Q
|
| SMART Domains |
Protein: ENSMUSP00000127962
Gene: ENSMUSG00000030688
AA Change: R176Q
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:START
|
46 |
223 |
8.5e-23 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000172630
|
| SMART Domains |
Protein: ENSMUSP00000134138
Gene: ENSMUSG00000030688
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:START
|
27 |
150 |
8e-8 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000172662
|
| SMART Domains |
Protein: ENSMUSP00000134156
Gene: ENSMUSG00000030688
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:START
|
35 |
78 |
8e-22 |
BLAST |
|
| 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 |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000210192
AA Change: R158Q
PolyPhen 2
Score 0.222 (Sensitivity: 0.91; Specificity: 0.88)
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000174291
AA Change: R149Q
|
| SMART Domains |
Protein: ENSMUSP00000133985
Gene: ENSMUSG00000030688
AA Change: R149Q
| 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: ENSMUST00000209980
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000173270
|
| SMART Domains |
Protein: ENSMUSP00000133955
Gene: ENSMUSG00000030688
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:START
|
27 |
159 |
7.7e-10 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000174140
|
| Meta Mutation Damage Score |
0.1855 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.6%
|
| Validation Efficiency |
100% (51/51) |
| 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: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A3galt2 |
A |
G |
4: 128,655,847 (GRCm39) |
T72A |
probably damaging |
Het |
| Ascc3 |
T |
A |
10: 50,718,289 (GRCm39) |
I1994N |
probably damaging |
Het |
| C1qb |
A |
T |
4: 136,607,727 (GRCm39) |
V212E |
probably damaging |
Het |
| Cfap54 |
T |
A |
10: 92,874,708 (GRCm39) |
I563F |
possibly damaging |
Het |
| Clip2 |
T |
C |
5: 134,551,847 (GRCm39) |
K92E |
probably damaging |
Het |
| Clrn3 |
T |
C |
7: 135,120,194 (GRCm39) |
T131A |
possibly damaging |
Het |
| Col9a1 |
T |
C |
1: 24,224,517 (GRCm39) |
|
probably null |
Het |
| Def8 |
T |
C |
8: 124,185,083 (GRCm39) |
|
probably benign |
Het |
| Diaph1 |
C |
A |
18: 38,033,691 (GRCm39) |
|
probably benign |
Het |
| Dmrta1 |
A |
T |
4: 89,579,831 (GRCm39) |
I264F |
possibly damaging |
Het |
| Dscaml1 |
A |
T |
9: 45,628,782 (GRCm39) |
D1112V |
possibly damaging |
Het |
| Ehbp1l1 |
A |
G |
19: 5,768,340 (GRCm39) |
S988P |
possibly damaging |
Het |
| Gabrr2 |
A |
G |
4: 33,081,348 (GRCm39) |
Y4C |
probably damaging |
Het |
| Gm10088 |
T |
C |
16: 18,847,001 (GRCm39) |
|
noncoding transcript |
Het |
| Gm5616 |
A |
G |
9: 48,361,809 (GRCm39) |
|
noncoding transcript |
Het |
| H2-T24 |
T |
A |
17: 36,326,330 (GRCm39) |
I190F |
possibly damaging |
Het |
| Hmcn1 |
A |
T |
1: 150,510,946 (GRCm39) |
D3592E |
probably damaging |
Het |
| Il1rap |
A |
G |
16: 26,495,606 (GRCm39) |
Y71C |
probably damaging |
Het |
| Krt1 |
T |
A |
15: 101,758,847 (GRCm39) |
S106C |
unknown |
Het |
| Lsamp |
T |
C |
16: 39,805,054 (GRCm39) |
V11A |
probably benign |
Het |
| Mob1b |
T |
A |
5: 88,901,061 (GRCm39) |
I156K |
probably damaging |
Het |
| Naip2 |
T |
A |
13: 100,297,606 (GRCm39) |
E810V |
probably damaging |
Het |
| Nfe2l1 |
A |
G |
11: 96,710,823 (GRCm39) |
S181P |
possibly damaging |
Het |
| Nos1ap |
T |
C |
1: 170,177,025 (GRCm39) |
Y126C |
probably damaging |
Het |
| Nuak2 |
G |
T |
1: 132,259,223 (GRCm39) |
A342S |
possibly damaging |
Het |
| Or10ah1-ps1 |
G |
T |
5: 143,123,152 (GRCm39) |
S290R |
probably benign |
Het |
| Or2aj5 |
A |
G |
16: 19,425,205 (GRCm39) |
I71T |
probably damaging |
Het |
| Or2t1 |
T |
A |
14: 14,328,114 (GRCm38) |
M1K |
probably null |
Het |
| Pcdhb16 |
A |
T |
18: 37,612,422 (GRCm39) |
I461F |
probably benign |
Het |
| Pcdhga10 |
A |
C |
18: 37,882,534 (GRCm39) |
H765P |
probably benign |
Het |
| Pex2 |
C |
T |
3: 5,626,008 (GRCm39) |
C267Y |
probably damaging |
Het |
| Pgghg |
T |
C |
7: 140,525,616 (GRCm39) |
I473T |
probably damaging |
Het |
| Polr2e |
G |
T |
10: 79,873,213 (GRCm39) |
P80T |
probably benign |
Het |
| Pum1 |
T |
C |
4: 130,491,393 (GRCm39) |
L774P |
probably damaging |
Het |
| Rasef |
A |
G |
4: 73,698,634 (GRCm39) |
V9A |
probably benign |
Het |
| Rpl13 |
A |
G |
8: 123,831,907 (GRCm39) |
E201G |
probably damaging |
Het |
| Skint2 |
A |
G |
4: 112,481,383 (GRCm39) |
E82G |
probably damaging |
Het |
| Skor2 |
A |
G |
18: 76,946,350 (GRCm39) |
D24G |
unknown |
Het |
| Slc19a3 |
A |
T |
1: 83,000,678 (GRCm39) |
F113Y |
probably damaging |
Het |
| Slc29a3 |
T |
A |
10: 60,552,040 (GRCm39) |
K335* |
probably null |
Het |
| Slc30a6 |
T |
A |
17: 74,726,541 (GRCm39) |
D282E |
probably benign |
Het |
| Slc9a7 |
A |
G |
X: 20,052,352 (GRCm39) |
F247S |
probably damaging |
Het |
| Slx4 |
A |
T |
16: 3,797,773 (GRCm39) |
I1537N |
probably damaging |
Het |
| Specc1 |
C |
T |
11: 62,042,739 (GRCm39) |
T872M |
probably benign |
Het |
| Syce1 |
C |
A |
7: 140,359,809 (GRCm39) |
L83F |
probably damaging |
Het |
| Tesl1 |
A |
G |
X: 23,773,180 (GRCm39) |
Y227C |
probably damaging |
Het |
| Vwa1 |
T |
C |
4: 155,857,651 (GRCm39) |
E49G |
probably damaging |
Het |
| Zc3h12a |
A |
G |
4: 125,020,678 (GRCm39) |
F55S |
probably damaging |
Het |
| Zmym4 |
A |
G |
4: 126,798,269 (GRCm39) |
I786T |
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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGGCACTTCCCTAATGGCAC -3'
(R):5'- ATCCAGTTCATTCCCTGTACAG -3'
Sequencing Primer
(F):5'- GGCCTGGCCTGATTATTTTTC -3'
(R):5'- CCTGTACAGGGAAGGAGCC -3'
|
| Posted On |
2015-04-17 |
Incidental Mutation