Incidental Mutation 'R5338:Stard13'
| ID |
423620 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Stard13
|
| Ensembl Gene |
ENSMUSG00000016128 |
| Gene Name |
StAR related lipid transfer domain containing 13 |
| Synonyms |
GT650, DLC2 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5338 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
150960975-151157301 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 150983063 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Arginine
at position 648
(K648R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000106109
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000062015]
[ENSMUST00000110483]
[ENSMUST00000129088]
[ENSMUST00000202111]
[ENSMUST00000202365]
|
| AlphaFold |
Q923Q2 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000062015
AA Change: K667R
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000053232
Gene: ENSMUSG00000016128
AA Change: K667R
| 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 damaging
Transcript: ENSMUST00000110483
AA Change: K648R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000106109
Gene: ENSMUSG00000016128
AA Change: K648R
| 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 damaging
Transcript: ENSMUST00000202111
AA Change: K530R
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000144056
Gene: ENSMUSG00000016128
AA Change: K530R
| 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
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.8%
|
| Validation Efficiency |
|
| 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: 67 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A4gnt |
T |
A |
9: 99,502,597 (GRCm39) |
N252K |
probably damaging |
Het |
| Abhd16a |
A |
G |
17: 35,313,278 (GRCm39) |
E132G |
probably damaging |
Het |
| Adgrv1 |
G |
A |
13: 81,677,165 (GRCm39) |
R1889W |
possibly damaging |
Het |
| Aftph |
A |
T |
11: 20,677,203 (GRCm39) |
D135E |
probably benign |
Het |
| Arf1 |
A |
C |
11: 59,104,041 (GRCm39) |
F63V |
probably damaging |
Het |
| Atg14 |
G |
A |
14: 47,805,656 (GRCm39) |
R70C |
probably damaging |
Het |
| B3gnt7 |
T |
A |
1: 86,233,366 (GRCm39) |
F87Y |
probably damaging |
Het |
| Bcat1 |
A |
G |
6: 144,953,353 (GRCm39) |
Y345H |
possibly damaging |
Het |
| Birc2 |
G |
T |
9: 7,857,360 (GRCm39) |
T371K |
probably benign |
Het |
| Ccdc175 |
A |
T |
12: 72,231,745 (GRCm39) |
S5T |
probably damaging |
Het |
| Ccdc186 |
A |
T |
19: 56,801,689 (GRCm39) |
S143T |
possibly damaging |
Het |
| Cct6b |
A |
T |
11: 82,653,015 (GRCm39) |
M28K |
possibly damaging |
Het |
| Cers4 |
C |
A |
8: 4,565,680 (GRCm39) |
A42D |
probably damaging |
Het |
| Crmp1 |
G |
T |
5: 37,437,018 (GRCm39) |
V236L |
probably benign |
Het |
| Ctdspl2 |
T |
A |
2: 121,811,793 (GRCm39) |
N212K |
probably benign |
Het |
| Dclk3 |
T |
C |
9: 111,298,127 (GRCm39) |
V557A |
possibly damaging |
Het |
| Dnmt1 |
A |
T |
9: 20,864,015 (GRCm39) |
H23Q |
probably benign |
Het |
| Dpp8 |
G |
T |
9: 64,971,206 (GRCm39) |
E609* |
probably null |
Het |
| Dtx3 |
C |
A |
10: 127,028,919 (GRCm39) |
M106I |
probably benign |
Het |
| Ero1b |
A |
C |
13: 12,589,732 (GRCm39) |
D45A |
probably damaging |
Het |
| Fcho2 |
T |
A |
13: 98,867,399 (GRCm39) |
D688V |
probably damaging |
Het |
| Fhod3 |
A |
T |
18: 25,161,138 (GRCm39) |
S557C |
probably damaging |
Het |
| Flnc |
T |
C |
6: 29,444,063 (GRCm39) |
S626P |
possibly damaging |
Het |
| Foxi3 |
G |
T |
6: 70,937,602 (GRCm39) |
G278V |
probably damaging |
Het |
| Gbp10 |
A |
G |
5: 105,372,166 (GRCm39) |
L198P |
probably damaging |
Het |
| Gcn1 |
A |
G |
5: 115,721,462 (GRCm39) |
T458A |
probably benign |
Het |
| Gigyf1 |
C |
T |
5: 137,521,422 (GRCm39) |
|
probably benign |
Het |
| Gtpbp2 |
A |
C |
17: 46,478,760 (GRCm39) |
T526P |
probably damaging |
Het |
| Gys2 |
A |
G |
6: 142,400,239 (GRCm39) |
L324S |
probably damaging |
Het |
| Hpn |
C |
A |
7: 30,802,781 (GRCm39) |
V119L |
probably benign |
Het |
| Ino80d |
C |
A |
1: 63,098,098 (GRCm39) |
V599L |
probably benign |
Het |
| Kcnh3 |
G |
T |
15: 99,140,275 (GRCm39) |
G1054* |
probably null |
Het |
| Maml1 |
A |
T |
11: 50,157,778 (GRCm39) |
D132E |
probably benign |
Het |
| Mastl |
A |
T |
2: 23,023,503 (GRCm39) |
S407T |
probably benign |
Het |
| Mettl1 |
T |
C |
10: 126,878,954 (GRCm39) |
W3R |
probably damaging |
Het |
| Mprip |
A |
G |
11: 59,651,399 (GRCm39) |
Y1701C |
probably damaging |
Het |
| Mylk3 |
T |
C |
8: 86,069,350 (GRCm39) |
N484D |
probably damaging |
Het |
| Nod2 |
G |
A |
8: 89,399,413 (GRCm39) |
|
probably null |
Het |
| Nrde2 |
A |
T |
12: 100,097,037 (GRCm39) |
F921Y |
probably damaging |
Het |
| Nup88 |
G |
T |
11: 70,835,734 (GRCm39) |
T575N |
probably damaging |
Het |
| Nxpe3 |
T |
C |
16: 55,686,706 (GRCm39) |
T101A |
possibly damaging |
Het |
| Or1o3 |
T |
A |
17: 37,574,532 (GRCm39) |
T8S |
probably benign |
Het |
| Or2r11 |
A |
G |
6: 42,437,908 (GRCm39) |
M15T |
probably benign |
Het |
| Or4c109 |
C |
T |
2: 88,817,809 (GRCm39) |
V246I |
possibly damaging |
Het |
| Or52e15 |
A |
G |
7: 104,645,514 (GRCm39) |
L199S |
possibly damaging |
Het |
| Or8g32 |
A |
T |
9: 39,305,371 (GRCm39) |
I92F |
probably damaging |
Het |
| Pcnx3 |
A |
T |
19: 5,722,624 (GRCm39) |
L1356Q |
probably damaging |
Het |
| Pkd1 |
A |
T |
17: 24,813,510 (GRCm39) |
M4017L |
probably benign |
Het |
| Polg2 |
A |
G |
11: 106,670,064 (GRCm39) |
C69R |
possibly damaging |
Het |
| Prr5l |
T |
G |
2: 101,547,452 (GRCm39) |
S358R |
probably benign |
Het |
| Ptprg |
A |
G |
14: 12,154,111 (GRCm38) |
T611A |
probably benign |
Het |
| Ryk |
G |
T |
9: 102,774,516 (GRCm39) |
E417* |
probably null |
Het |
| Sbp |
T |
C |
17: 24,161,396 (GRCm39) |
|
probably benign |
Het |
| Sema4a |
T |
C |
3: 88,358,804 (GRCm39) |
T155A |
probably benign |
Het |
| Shank3 |
A |
G |
15: 89,415,914 (GRCm39) |
|
probably null |
Het |
| Slc35d2 |
A |
T |
13: 64,245,496 (GRCm39) |
M294K |
possibly damaging |
Het |
| Slc41a3 |
A |
T |
6: 90,589,153 (GRCm39) |
N88I |
possibly damaging |
Het |
| Slit3 |
A |
G |
11: 35,512,975 (GRCm39) |
T534A |
probably benign |
Het |
| Ssx2ip |
A |
G |
3: 146,142,296 (GRCm39) |
|
probably null |
Het |
| Tanc1 |
A |
T |
2: 59,626,178 (GRCm39) |
T512S |
probably damaging |
Het |
| Tbcc |
T |
C |
17: 47,202,082 (GRCm39) |
V156A |
probably benign |
Het |
| Terf1 |
T |
G |
1: 15,901,787 (GRCm39) |
I273R |
possibly damaging |
Het |
| Tesc |
A |
G |
5: 118,197,523 (GRCm39) |
Y179C |
probably damaging |
Het |
| Ttc3 |
T |
G |
16: 94,184,900 (GRCm39) |
V40G |
probably damaging |
Het |
| Tysnd1 |
T |
A |
10: 61,532,028 (GRCm39) |
F227I |
probably damaging |
Het |
| Vps53 |
T |
C |
11: 75,972,034 (GRCm39) |
E271G |
probably damaging |
Het |
| Wdfy4 |
C |
T |
14: 32,812,823 (GRCm39) |
R1650H |
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 |
|
|
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'- TAGGCCTTGTACCAGACAGG -3'
(R):5'- CACATCTAGAGTGCCACAGACTATG -3'
Sequencing Primer
(F):5'- TTGTACCAGACAGGCCCGAC -3'
(R):5'- TGCCACAGACTATGAATGATGTAG -3'
|
| Posted On |
2016-08-04 |
Incidental Mutation