Incidental Mutation 'R9387:Stard13'
| ID |
710380 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Stard13
|
| Ensembl Gene |
ENSMUSG00000016128 |
| Gene Name |
StAR related lipid transfer domain containing 13 |
| Synonyms |
GT650, DLC2 |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R9387 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
150960975-151157301 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 151113483 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Lysine
at position 26
(M26K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000053232
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000062015]
[ENSMUST00000110483]
[ENSMUST00000126770]
[ENSMUST00000129088]
[ENSMUST00000202365]
|
| AlphaFold |
Q923Q2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000062015
AA Change: M26K
PolyPhen 2
Score 0.270 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000053232
Gene: ENSMUSG00000016128
AA Change: M26K
| 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: M26K
PolyPhen 2
Score 0.270 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000106109
Gene: ENSMUSG00000016128
AA Change: M26K
| 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: ENSMUST00000126770
|
| SMART Domains |
Protein: ENSMUSP00000122468
Gene: ENSMUSG00000016128
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:SAM_2
|
44 |
105 |
7.6e-8 |
PFAM |
|
| 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 |
probably benign
Transcript: ENSMUST00000202365
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.9%
- 20x: 99.6%
|
| Validation Efficiency |
100% (44/44) |
| 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: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca17 |
T |
C |
17: 24,553,255 (GRCm39) |
D152G |
probably benign |
Het |
| Abcb1b |
G |
A |
5: 8,875,614 (GRCm39) |
V596I |
probably benign |
Het |
| Acss3 |
A |
G |
10: 106,959,255 (GRCm39) |
S64P |
probably damaging |
Het |
| Aggf1 |
T |
C |
13: 95,507,461 (GRCm39) |
Y108C |
probably damaging |
Het |
| Arpc5l |
T |
C |
2: 38,903,195 (GRCm39) |
V73A |
probably benign |
Het |
| Atp5f1d |
A |
G |
10: 79,981,134 (GRCm39) |
D126G |
probably damaging |
Het |
| Carmil3 |
T |
A |
14: 55,731,869 (GRCm39) |
L199* |
probably null |
Het |
| Cblb |
A |
G |
16: 51,853,515 (GRCm39) |
R44G |
probably benign |
Het |
| Cdcp3 |
A |
G |
7: 130,863,620 (GRCm39) |
I1208V |
unknown |
Het |
| Chaf1b |
T |
G |
16: 93,689,629 (GRCm39) |
F225V |
probably benign |
Het |
| Creb3l2 |
A |
T |
6: 37,356,751 (GRCm39) |
N105K |
probably damaging |
Het |
| Dagla |
A |
T |
19: 10,248,465 (GRCm39) |
I65N |
probably damaging |
Het |
| Dclre1c |
T |
G |
2: 3,425,342 (GRCm39) |
F30V |
probably damaging |
Het |
| Dicer1 |
A |
G |
12: 104,695,499 (GRCm39) |
V144A |
possibly damaging |
Het |
| Dlg5 |
C |
T |
14: 24,197,168 (GRCm39) |
G1593D |
probably damaging |
Het |
| Enpp3 |
A |
T |
10: 24,711,990 (GRCm39) |
M1K |
probably null |
Het |
| Fmod |
C |
A |
1: 133,968,514 (GRCm39) |
H185N |
probably benign |
Het |
| Gon4l |
A |
G |
3: 88,802,260 (GRCm39) |
E957G |
probably benign |
Het |
| Hat1 |
A |
G |
2: 71,264,512 (GRCm39) |
M310V |
possibly damaging |
Het |
| Klhl31 |
A |
T |
9: 77,557,826 (GRCm39) |
T181S |
probably benign |
Het |
| Krt36 |
T |
A |
11: 99,994,906 (GRCm39) |
E222V |
probably damaging |
Het |
| Lrrc27 |
A |
T |
7: 138,807,837 (GRCm39) |
K315* |
probably null |
Het |
| Mak16 |
T |
G |
8: 31,650,794 (GRCm39) |
D232A |
probably damaging |
Het |
| Mepce |
A |
G |
5: 137,783,322 (GRCm39) |
S335P |
possibly damaging |
Het |
| Mki67 |
T |
A |
7: 135,302,378 (GRCm39) |
R885S |
probably damaging |
Het |
| Mmrn1 |
G |
A |
6: 60,935,176 (GRCm39) |
W224* |
probably null |
Het |
| Mroh8 |
T |
A |
2: 157,098,386 (GRCm39) |
Q254L |
possibly damaging |
Het |
| Mup18 |
A |
T |
4: 61,590,854 (GRCm39) |
V101E |
probably damaging |
Het |
| Nbea |
T |
C |
3: 55,898,460 (GRCm39) |
K1508R |
probably benign |
Het |
| Or5aq6 |
A |
T |
2: 86,923,390 (GRCm39) |
M117K |
possibly damaging |
Het |
| Or5g9 |
A |
G |
2: 85,551,806 (GRCm39) |
Y19C |
probably benign |
Het |
| Pcdh15 |
A |
T |
10: 74,066,192 (GRCm39) |
I286F |
probably damaging |
Het |
| Pcdhb8 |
A |
T |
18: 37,488,751 (GRCm39) |
Q143L |
probably benign |
Het |
| Pibf1 |
T |
C |
14: 99,448,436 (GRCm39) |
S632P |
probably damaging |
Het |
| Senp6 |
A |
G |
9: 79,999,646 (GRCm39) |
K100R |
probably damaging |
Het |
| Slc5a9 |
A |
G |
4: 111,750,864 (GRCm39) |
S81P |
probably damaging |
Het |
| Sox8 |
T |
C |
17: 25,786,338 (GRCm39) |
Q455R |
probably damaging |
Het |
| Sulf1 |
T |
A |
1: 12,908,778 (GRCm39) |
M597K |
probably benign |
Het |
| Ugt2a3 |
T |
A |
5: 87,484,832 (GRCm39) |
D64V |
probably benign |
Het |
| Unc80 |
T |
C |
1: 66,589,097 (GRCm39) |
|
probably null |
Het |
| Vav3 |
A |
T |
3: 109,565,291 (GRCm39) |
H729L |
probably benign |
Het |
| Vmn1r226 |
T |
A |
17: 20,907,831 (GRCm39) |
L21Q |
probably damaging |
Het |
| Wdtc1 |
A |
G |
4: 133,036,058 (GRCm39) |
|
probably null |
Het |
| Zfp984 |
A |
G |
4: 147,840,002 (GRCm39) |
M283T |
probably benign |
Het |
| Zik1 |
A |
G |
7: 10,224,623 (GRCm39) |
L158P |
probably damaging |
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 |
|
|
R4233:Stard13
|
UTSW |
5 |
150,986,164 (GRCm39) |
missense |
probably benign |
0.00 |
|
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 |
|
|
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'- TCTGAAAGAGTTCCACGCAG -3'
(R):5'- AAAATCGCTGGGTCTGTGG -3'
Sequencing Primer
(F):5'- CATAAGAATCCGTGCGGTGTAC -3'
(R):5'- GGGTCTGTGGCTCTCTCC -3'
|
| Posted On |
2022-04-18 |
Incidental Mutation