Incidental Mutation 'R7252:Stard13'
| ID |
563989 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Stard13
|
| Ensembl Gene |
ENSMUSG00000016128 |
| Gene Name |
StAR related lipid transfer domain containing 13 |
| Synonyms |
GT650, DLC2 |
| MMRRC Submission |
045385-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7252 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
150960975-151157301 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 150986634 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Arginine
at position 292
(Q292R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000053232
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000062015]
[ENSMUST00000110483]
[ENSMUST00000129088]
[ENSMUST00000202111]
[ENSMUST00000202365]
|
| AlphaFold |
Q923Q2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000062015
AA Change: Q292R
PolyPhen 2
Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
|
| SMART Domains |
Protein: ENSMUSP00000053232
Gene: ENSMUSG00000016128
AA Change: Q292R
| 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: Q292R
PolyPhen 2
Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000106109
Gene: ENSMUSG00000016128
AA Change: Q292R
| 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 |
probably benign
Transcript: ENSMUST00000202111
AA Change: Q174R
PolyPhen 2
Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000144056
Gene: ENSMUSG00000016128
AA Change: Q174R
| 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
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.5%
|
| Validation Efficiency |
99% (81/82) |
| 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: 82 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930480E11Rik |
G |
T |
X: 77,414,311 (GRCm39) |
M345I |
probably benign |
Het |
| Abcc2 |
T |
A |
19: 43,816,388 (GRCm39) |
I1226N |
probably damaging |
Het |
| Adarb2 |
A |
G |
13: 8,620,216 (GRCm39) |
E234G |
probably benign |
Het |
| Ankrd52 |
T |
C |
10: 128,217,865 (GRCm39) |
S282P |
probably damaging |
Het |
| Arhgef12 |
A |
T |
9: 42,927,205 (GRCm39) |
S306R |
probably benign |
Het |
| Baiap2 |
G |
T |
11: 119,893,865 (GRCm39) |
A514S |
probably benign |
Het |
| BC030500 |
T |
A |
8: 59,364,838 (GRCm39) |
|
probably null |
Het |
| C1qtnf12 |
T |
A |
4: 156,047,072 (GRCm39) |
W13R |
unknown |
Het |
| Ccdc158 |
A |
G |
5: 92,798,647 (GRCm39) |
V351A |
probably benign |
Het |
| Cct8 |
T |
C |
16: 87,281,807 (GRCm39) |
E485G |
probably benign |
Het |
| Cep85 |
T |
C |
4: 133,875,342 (GRCm39) |
D542G |
probably benign |
Het |
| Clhc1 |
T |
A |
11: 29,513,937 (GRCm39) |
S340R |
probably benign |
Het |
| Cnot4 |
A |
T |
6: 35,046,362 (GRCm39) |
D168E |
probably damaging |
Het |
| Cntn5 |
G |
A |
9: 9,831,640 (GRCm39) |
T375I |
probably benign |
Het |
| Ctc1 |
T |
A |
11: 68,917,000 (GRCm39) |
I298N |
probably damaging |
Het |
| Dchs2 |
T |
A |
3: 83,232,610 (GRCm39) |
N2198K |
probably benign |
Het |
| Ddx6 |
G |
A |
9: 44,535,050 (GRCm39) |
|
probably null |
Het |
| Defb11 |
A |
G |
8: 22,395,473 (GRCm39) |
I68T |
probably benign |
Het |
| Dip2a |
C |
T |
10: 76,109,036 (GRCm39) |
V1212I |
not run |
Het |
| Dop1a |
T |
A |
9: 86,382,874 (GRCm39) |
I269N |
probably damaging |
Het |
| Efna3 |
C |
T |
3: 89,223,971 (GRCm39) |
G73S |
possibly damaging |
Het |
| Fam98b |
C |
G |
2: 117,094,373 (GRCm39) |
R228G |
probably damaging |
Het |
| Fancd2 |
A |
T |
6: 113,533,246 (GRCm39) |
N521I |
probably damaging |
Het |
| Farsa |
A |
G |
8: 85,587,957 (GRCm39) |
D134G |
probably damaging |
Het |
| Fat2 |
A |
T |
11: 55,202,088 (GRCm39) |
F329I |
probably damaging |
Het |
| Gm14399 |
A |
T |
2: 174,974,991 (GRCm39) |
I43K |
probably damaging |
Het |
| Gpr15 |
A |
G |
16: 58,538,760 (GRCm39) |
S110P |
probably damaging |
Het |
| Gpr157 |
T |
C |
4: 150,183,331 (GRCm39) |
V167A |
probably benign |
Het |
| Hacd4 |
A |
G |
4: 88,345,000 (GRCm39) |
I134T |
possibly damaging |
Het |
| Hpgd |
T |
A |
8: 56,751,461 (GRCm39) |
N96K |
probably damaging |
Het |
| Insm2 |
A |
T |
12: 55,647,305 (GRCm39) |
T350S |
probably benign |
Het |
| Iqch |
C |
T |
9: 63,419,518 (GRCm39) |
|
probably null |
Het |
| Kmt2d |
A |
G |
15: 98,742,147 (GRCm39) |
S4338P |
unknown |
Het |
| Krtap9-3 |
A |
G |
11: 99,488,796 (GRCm39) |
S29P |
probably benign |
Het |
| Kyat3 |
T |
A |
3: 142,426,219 (GRCm39) |
S87T |
probably benign |
Het |
| Minar2 |
A |
G |
18: 59,199,980 (GRCm39) |
|
probably null |
Het |
| Mrpl46 |
T |
C |
7: 78,430,336 (GRCm39) |
T145A |
probably benign |
Het |
| Neb |
A |
G |
2: 52,214,973 (GRCm39) |
|
probably null |
Het |
| Or2aj5 |
A |
T |
16: 19,425,249 (GRCm39) |
H55Q |
probably damaging |
Het |
| Or4c124 |
T |
A |
2: 89,156,629 (GRCm39) |
|
probably benign |
Het |
| Or6x1 |
C |
T |
9: 40,098,657 (GRCm39) |
T82I |
probably benign |
Het |
| Or7g17 |
A |
G |
9: 18,768,548 (GRCm39) |
Y200C |
probably damaging |
Het |
| Or9a7 |
A |
G |
6: 40,521,703 (GRCm39) |
I70T |
probably benign |
Het |
| Otogl |
T |
C |
10: 107,657,804 (GRCm39) |
D1042G |
probably benign |
Het |
| Paxip1 |
C |
T |
5: 27,965,084 (GRCm39) |
V659I |
probably damaging |
Het |
| Pfkl |
A |
G |
10: 77,829,263 (GRCm39) |
W382R |
probably damaging |
Het |
| Pfn1 |
A |
G |
11: 70,545,297 (GRCm39) |
W4R |
probably damaging |
Het |
| Pik3c2b |
G |
A |
1: 133,022,472 (GRCm39) |
R1138H |
probably benign |
Het |
| Pkd1l3 |
A |
G |
8: 110,387,330 (GRCm39) |
D1758G |
probably benign |
Het |
| Pmpca |
G |
C |
2: 26,285,046 (GRCm39) |
E424Q |
possibly damaging |
Het |
| Pramel29 |
T |
C |
4: 143,939,510 (GRCm39) |
D9G |
possibly damaging |
Het |
| Prdm12 |
A |
G |
2: 31,532,386 (GRCm39) |
N132S |
possibly damaging |
Het |
| Prokr2 |
T |
A |
2: 132,223,360 (GRCm39) |
M61L |
probably benign |
Het |
| Ralgapa2 |
T |
C |
2: 146,184,671 (GRCm39) |
|
probably null |
Het |
| Ralgps1 |
A |
T |
2: 33,058,200 (GRCm39) |
D301E |
probably benign |
Het |
| Rcbtb2 |
T |
C |
14: 73,404,220 (GRCm39) |
Y231H |
probably damaging |
Het |
| Rcc2 |
G |
A |
4: 140,429,586 (GRCm39) |
C40Y |
probably benign |
Het |
| Relb |
C |
A |
7: 19,346,538 (GRCm39) |
E345* |
probably null |
Het |
| Rhbdl3 |
A |
C |
11: 80,228,411 (GRCm39) |
M294L |
possibly damaging |
Het |
| Rpl24 |
G |
A |
16: 55,790,479 (GRCm39) |
A112T |
possibly damaging |
Het |
| Rsbn1l |
C |
T |
5: 21,113,196 (GRCm39) |
R442Q |
probably damaging |
Het |
| Rxfp3 |
A |
T |
15: 11,036,025 (GRCm39) |
I449N |
probably benign |
Het |
| Sema4c |
A |
C |
1: 36,589,096 (GRCm39) |
C677G |
probably damaging |
Het |
| Sf3b3 |
A |
C |
8: 111,566,562 (GRCm39) |
I256S |
probably damaging |
Het |
| Shank1 |
C |
T |
7: 43,976,585 (GRCm39) |
A561V |
unknown |
Het |
| Slc39a6 |
G |
T |
18: 24,734,442 (GRCm39) |
N82K |
possibly damaging |
Het |
| Slc3a2 |
T |
C |
19: 8,700,521 (GRCm39) |
|
probably benign |
Het |
| Tgm6 |
A |
G |
2: 129,986,884 (GRCm39) |
R451G |
probably damaging |
Het |
| Tspo |
G |
T |
15: 83,456,466 (GRCm39) |
G83V |
probably damaging |
Het |
| Ubxn10 |
T |
C |
4: 138,448,187 (GRCm39) |
Q163R |
probably benign |
Het |
| Ushbp1 |
A |
G |
8: 71,847,246 (GRCm39) |
S129P |
probably benign |
Het |
| Vmn2r23 |
T |
A |
6: 123,718,540 (GRCm39) |
V631D |
probably damaging |
Het |
| Vmn2r24 |
T |
C |
6: 123,764,191 (GRCm39) |
I356T |
possibly damaging |
Het |
| Vmn2r84 |
C |
T |
10: 130,222,279 (GRCm39) |
C647Y |
probably damaging |
Het |
| Vps13a |
T |
C |
19: 16,638,428 (GRCm39) |
E2356G |
probably benign |
Het |
| Wdr64 |
A |
G |
1: 175,603,240 (GRCm39) |
T614A |
probably benign |
Het |
| Zdhhc16 |
G |
T |
19: 41,929,990 (GRCm39) |
W271L |
probably damaging |
Het |
| Zer1 |
A |
C |
2: 29,991,904 (GRCm39) |
S652A |
probably damaging |
Het |
| Zfp287 |
A |
G |
11: 62,615,655 (GRCm39) |
V224A |
probably damaging |
Het |
| Zfp438 |
A |
T |
18: 5,214,874 (GRCm39) |
L28* |
probably null |
Het |
| Zfp830 |
G |
A |
11: 82,655,534 (GRCm39) |
A113T |
probably benign |
Het |
| Zfp865 |
G |
T |
7: 5,037,416 (GRCm39) |
|
probably benign |
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 |
|
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'- TTGCGTTCCTTCATGCACGG -3'
(R):5'- TCTGCTGACAGTACGCATGC -3'
Sequencing Primer
(F):5'- ACGGAGTGCTCACTGTGCTG -3'
(R):5'- AGTACGCATGCGCTGGAG -3'
|
| Posted On |
2019-06-26 |
Incidental Mutation