Incidental Mutation 'R4233:Stard13'
| ID |
320957 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Stard13
|
| Ensembl Gene |
ENSMUSG00000016128 |
| Gene Name |
StAR related lipid transfer domain containing 13 |
| Synonyms |
GT650, DLC2 |
| MMRRC Submission |
041642-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4233 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
150960975-151157301 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 150986164 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 331
(S331P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000144056
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000062015]
[ENSMUST00000110483]
[ENSMUST00000129088]
[ENSMUST00000202111]
[ENSMUST00000202365]
|
| AlphaFold |
Q923Q2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000062015
AA Change: S449P
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000053232
Gene: ENSMUSG00000016128
AA Change: S449P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:SAM_2
|
59 |
120 |
2.6e-6 |
PFAM |
|
low complexity region
|
197 |
216 |
N/A |
INTRINSIC |
|
low complexity region
|
322 |
340 |
N/A |
INTRINSIC |
|
low complexity region
|
473 |
486 |
N/A |
INTRINSIC |
|
low complexity region
|
612 |
624 |
N/A |
INTRINSIC |
|
RhoGAP
|
693 |
884 |
2.37e-50 |
SMART |
|
START
|
927 |
1129 |
2.08e-40 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000110483
AA Change: S449P
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000106109
Gene: ENSMUSG00000016128
AA Change: S449P
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:2JW2|A
|
50 |
120 |
1e-37 |
PDB |
|
low complexity region
|
197 |
216 |
N/A |
INTRINSIC |
|
low complexity region
|
322 |
340 |
N/A |
INTRINSIC |
|
low complexity region
|
473 |
486 |
N/A |
INTRINSIC |
|
low complexity region
|
612 |
624 |
N/A |
INTRINSIC |
|
RhoGAP
|
674 |
865 |
2.37e-50 |
SMART |
|
START
|
908 |
1110 |
2.08e-40 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000129088
|
| SMART Domains |
Protein: ENSMUSP00000116705
Gene: ENSMUSG00000016128
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:SAM
|
40 |
104 |
6e-32 |
BLAST |
|
PDB:2JW2|A
|
42 |
104 |
8e-33 |
PDB |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141117
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000201680
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000202111
AA Change: S331P
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000144056
Gene: ENSMUSG00000016128
AA Change: S331P
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
79 |
98 |
N/A |
INTRINSIC |
|
low complexity region
|
204 |
222 |
N/A |
INTRINSIC |
|
low complexity region
|
355 |
368 |
N/A |
INTRINSIC |
|
low complexity region
|
494 |
506 |
N/A |
INTRINSIC |
|
RhoGAP
|
556 |
747 |
1.4e-52 |
SMART |
|
START
|
790 |
992 |
1.4e-42 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000202365
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000202385
|
| Meta Mutation Damage Score |
0.0966 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.8%
- 10x: 97.6%
- 20x: 96.2%
|
| Validation Efficiency |
100% (53/53) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein which contains an N-terminal sterile alpha motif (SAM) for protein-protein interactions, followed by an ATP/GTP-binding motif, a GTPase-activating protein (GAP) domain, and a C-terminal STAR-related lipid transfer (START) domain. It may be involved in regulation of cytoskeletal reorganization, cell proliferation, and cell motility, and acts as a tumor suppressor in hepatoma cells. The gene is located in a region of chromosome 13 that is associated with loss of heterozygosity in hepatocellular carcinomas. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Aug 2011]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit small body size, decreased weight, and reduced adipose tissue. Mice homozygous for another knock-out allele exhibit increased angiogenesis in matrigel plugs and implanted tumors. [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 |
|---|
| 1700123K08Rik |
A |
T |
5: 138,562,454 (GRCm39) |
Y96N |
probably damaging |
Het |
| Abca15 |
C |
T |
7: 120,002,202 (GRCm39) |
Q1572* |
probably null |
Het |
| Ajuba |
T |
C |
14: 54,806,983 (GRCm39) |
R490G |
probably damaging |
Het |
| Akap6 |
T |
A |
12: 53,186,454 (GRCm39) |
N1289K |
probably damaging |
Het |
| Ankfy1 |
G |
A |
11: 72,605,310 (GRCm39) |
|
probably null |
Het |
| Aph1c |
A |
G |
9: 66,740,603 (GRCm39) |
F41S |
probably damaging |
Het |
| Arhgap21 |
A |
G |
2: 20,891,948 (GRCm39) |
V161A |
probably damaging |
Het |
| Arhgef18 |
T |
C |
8: 3,500,317 (GRCm39) |
I541T |
possibly damaging |
Het |
| Arhgef40 |
T |
C |
14: 52,227,628 (GRCm39) |
V458A |
possibly damaging |
Het |
| Atg14 |
T |
C |
14: 47,788,802 (GRCm39) |
K184E |
probably benign |
Het |
| Casp8 |
T |
C |
1: 58,883,929 (GRCm39) |
V432A |
probably damaging |
Het |
| Ccar2 |
T |
C |
14: 70,388,540 (GRCm39) |
T169A |
possibly damaging |
Het |
| Cfap58 |
G |
A |
19: 47,963,994 (GRCm39) |
V541M |
possibly damaging |
Het |
| Coro2b |
T |
C |
9: 62,333,467 (GRCm39) |
E376G |
possibly damaging |
Het |
| Dnah11 |
T |
C |
12: 117,880,526 (GRCm39) |
T3865A |
probably damaging |
Het |
| Dync2h1 |
T |
C |
9: 7,134,360 (GRCm39) |
E1549G |
probably benign |
Het |
| Ercc6l2 |
T |
C |
13: 64,019,982 (GRCm39) |
|
probably benign |
Het |
| Fbxo32 |
G |
T |
15: 58,055,729 (GRCm39) |
T135K |
possibly damaging |
Het |
| Fhip2b |
A |
C |
14: 70,824,318 (GRCm39) |
V473G |
probably damaging |
Het |
| Fras1 |
A |
T |
5: 96,862,235 (GRCm39) |
I2205F |
possibly damaging |
Het |
| Gm12034 |
A |
G |
11: 20,396,785 (GRCm39) |
|
noncoding transcript |
Het |
| Gm26678 |
T |
C |
3: 54,540,504 (GRCm39) |
|
noncoding transcript |
Het |
| Gm5108 |
C |
A |
5: 68,132,496 (GRCm39) |
T55K |
unknown |
Het |
| Gpa33 |
A |
T |
1: 165,974,340 (GRCm39) |
D59V |
probably damaging |
Het |
| Gpn2 |
T |
A |
4: 133,312,016 (GRCm39) |
Y83N |
probably damaging |
Het |
| Gzf1 |
C |
T |
2: 148,528,453 (GRCm39) |
P460S |
possibly damaging |
Het |
| Ifi203 |
A |
T |
1: 173,764,099 (GRCm39) |
S124R |
possibly damaging |
Het |
| Impg1 |
A |
G |
9: 80,252,611 (GRCm39) |
L523P |
probably damaging |
Het |
| Ldlrap1 |
T |
A |
4: 134,484,649 (GRCm39) |
|
probably null |
Het |
| Madd |
T |
C |
2: 91,008,581 (GRCm39) |
E107G |
probably benign |
Het |
| Med12l |
T |
G |
3: 59,164,644 (GRCm39) |
|
probably null |
Het |
| Nxpe4 |
A |
T |
9: 48,310,137 (GRCm39) |
T467S |
probably damaging |
Het |
| Or52n4 |
A |
G |
7: 104,294,195 (GRCm39) |
V126A |
probably benign |
Het |
| Or7g30 |
T |
A |
9: 19,352,886 (GRCm39) |
L226I |
probably damaging |
Het |
| Pam |
A |
T |
1: 97,792,119 (GRCm39) |
V434D |
possibly damaging |
Het |
| Plxnd1 |
T |
C |
6: 115,942,914 (GRCm39) |
N1257D |
probably benign |
Het |
| Prkdc |
C |
T |
16: 15,653,783 (GRCm39) |
A3870V |
probably benign |
Het |
| Ralgapa1 |
C |
T |
12: 55,687,429 (GRCm39) |
R2019Q |
probably damaging |
Het |
| Rufy4 |
T |
C |
1: 74,186,822 (GRCm39) |
C537R |
probably damaging |
Het |
| Ryr2 |
T |
C |
13: 11,765,611 (GRCm39) |
D1375G |
probably benign |
Het |
| Skint11 |
C |
A |
4: 114,101,856 (GRCm39) |
Q99K |
probably benign |
Het |
| Slc13a2 |
A |
G |
11: 78,294,361 (GRCm39) |
|
probably benign |
Het |
| Slc7a13 |
T |
C |
4: 19,819,070 (GRCm39) |
F90S |
probably damaging |
Het |
| Spc24 |
T |
C |
9: 21,667,498 (GRCm39) |
|
probably null |
Het |
| Sult2a8 |
T |
A |
7: 14,147,608 (GRCm39) |
I228L |
probably benign |
Het |
| Tas2r140 |
A |
T |
6: 133,031,915 (GRCm39) |
V281D |
probably damaging |
Het |
| Tmem38b |
T |
C |
4: 53,840,710 (GRCm39) |
C66R |
probably damaging |
Het |
| Tshz1 |
C |
A |
18: 84,034,320 (GRCm39) |
E29D |
probably benign |
Het |
| Zfp599 |
T |
A |
9: 22,161,041 (GRCm39) |
K375* |
probably null |
Het |
|
| Other mutations in Stard13 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00639:Stard13
|
APN |
5 |
150,965,704 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01362:Stard13
|
APN |
5 |
151,113,417 (GRCm39) |
missense |
probably benign |
0.05 |
|
IGL01588:Stard13
|
APN |
5 |
150,968,702 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01947:Stard13
|
APN |
5 |
150,986,309 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02294:Stard13
|
APN |
5 |
150,986,580 (GRCm39) |
missense |
probably benign |
0.19 |
|
IGL02713:Stard13
|
APN |
5 |
150,965,651 (GRCm39) |
nonsense |
probably null |
|
|
IGL02746:Stard13
|
APN |
5 |
150,970,322 (GRCm39) |
splice site |
probably benign |
|
|
IGL02827:Stard13
|
APN |
5 |
150,986,591 (GRCm39) |
missense |
probably benign |
0.07 |
|
R0498:Stard13
|
UTSW |
5 |
150,975,942 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1427:Stard13
|
UTSW |
5 |
150,969,456 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1785:Stard13
|
UTSW |
5 |
150,968,633 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1857:Stard13
|
UTSW |
5 |
151,018,903 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1858:Stard13
|
UTSW |
5 |
151,018,903 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2130:Stard13
|
UTSW |
5 |
150,968,633 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2131:Stard13
|
UTSW |
5 |
150,968,633 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2132:Stard13
|
UTSW |
5 |
150,968,633 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2133:Stard13
|
UTSW |
5 |
150,968,633 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2258:Stard13
|
UTSW |
5 |
150,963,196 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3435:Stard13
|
UTSW |
5 |
150,965,644 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4080:Stard13
|
UTSW |
5 |
151,016,294 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R4081:Stard13
|
UTSW |
5 |
151,016,294 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R4082:Stard13
|
UTSW |
5 |
151,016,294 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R4288:Stard13
|
UTSW |
5 |
150,968,642 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4303:Stard13
|
UTSW |
5 |
150,986,334 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R4659:Stard13
|
UTSW |
5 |
150,986,253 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4695:Stard13
|
UTSW |
5 |
150,984,280 (GRCm39) |
missense |
probably benign |
0.08 |
|
R4910:Stard13
|
UTSW |
5 |
150,985,992 (GRCm39) |
missense |
probably benign |
|
|
R5135:Stard13
|
UTSW |
5 |
150,986,232 (GRCm39) |
nonsense |
probably null |
|
|
R5338:Stard13
|
UTSW |
5 |
150,983,063 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5399:Stard13
|
UTSW |
5 |
150,971,266 (GRCm39) |
nonsense |
probably null |
|
|
R5546:Stard13
|
UTSW |
5 |
150,969,366 (GRCm39) |
missense |
probably benign |
0.03 |
|
R5685:Stard13
|
UTSW |
5 |
150,986,592 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R5771:Stard13
|
UTSW |
5 |
151,113,476 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6034:Stard13
|
UTSW |
5 |
151,018,965 (GRCm39) |
splice site |
probably null |
|
|
R6034:Stard13
|
UTSW |
5 |
151,018,965 (GRCm39) |
splice site |
probably null |
|
|
R6141:Stard13
|
UTSW |
5 |
150,965,707 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6171:Stard13
|
UTSW |
5 |
151,016,227 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6296:Stard13
|
UTSW |
5 |
150,986,138 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6326:Stard13
|
UTSW |
5 |
150,970,384 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R6508:Stard13
|
UTSW |
5 |
150,986,754 (GRCm39) |
missense |
probably benign |
0.06 |
|
R7252:Stard13
|
UTSW |
5 |
150,986,634 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7318:Stard13
|
UTSW |
5 |
150,986,038 (GRCm39) |
nonsense |
probably null |
|
|
R7459:Stard13
|
UTSW |
5 |
150,971,064 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7571:Stard13
|
UTSW |
5 |
150,982,967 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7696:Stard13
|
UTSW |
5 |
150,984,267 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7809:Stard13
|
UTSW |
5 |
151,113,489 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7962:Stard13
|
UTSW |
5 |
150,975,838 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7970:Stard13
|
UTSW |
5 |
150,986,726 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R8103:Stard13
|
UTSW |
5 |
150,970,435 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R8113:Stard13
|
UTSW |
5 |
150,986,970 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8263:Stard13
|
UTSW |
5 |
151,157,106 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R8392:Stard13
|
UTSW |
5 |
150,965,627 (GRCm39) |
missense |
probably benign |
0.24 |
|
R8490:Stard13
|
UTSW |
5 |
150,987,090 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8726:Stard13
|
UTSW |
5 |
150,986,607 (GRCm39) |
missense |
probably benign |
0.28 |
|
R8896:Stard13
|
UTSW |
5 |
150,986,115 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8939:Stard13
|
UTSW |
5 |
150,968,574 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8946:Stard13
|
UTSW |
5 |
150,984,267 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9157:Stard13
|
UTSW |
5 |
151,157,152 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9257:Stard13
|
UTSW |
5 |
150,985,956 (GRCm39) |
missense |
probably benign |
|
|
R9387:Stard13
|
UTSW |
5 |
151,113,483 (GRCm39) |
missense |
probably benign |
0.27 |
|
R9586:Stard13
|
UTSW |
5 |
150,985,832 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R9708:Stard13
|
UTSW |
5 |
150,986,961 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R9771:Stard13
|
UTSW |
5 |
150,983,048 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Stard13
|
UTSW |
5 |
150,986,799 (GRCm39) |
missense |
probably benign |
0.18 |
|
| Predicted Primers |
PCR Primer
(F):5'- AATGTGCTGTGACTTTGCAG -3'
(R):5'- CATGCATGGGTTTCACTCCC -3'
Sequencing Primer
(F):5'- ACTTTGCAGTTCGGGTAAGATG -3'
(R):5'- GGGTTTCACTCCCAAGAAAACTTG -3'
|
| Posted On |
2015-06-12 |
Incidental Mutation