Incidental Mutation 'R8896:Stard13'
| ID |
678021 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Stard13
|
| Ensembl Gene |
ENSMUSG00000016128 |
| Gene Name |
StAR related lipid transfer domain containing 13 |
| Synonyms |
GT650, DLC2 |
| MMRRC Submission |
068698-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8896 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
150960975-151157301 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 150986115 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Leucine
at position 465
(S465L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000053232
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000062015]
[ENSMUST00000110483]
[ENSMUST00000129088]
[ENSMUST00000202111]
[ENSMUST00000202365]
|
| AlphaFold |
Q923Q2 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000062015
AA Change: S465L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000053232
Gene: ENSMUSG00000016128
AA Change: S465L
| 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: S465L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000106109
Gene: ENSMUSG00000016128
AA Change: S465L
| 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 damaging
Transcript: ENSMUST00000202111
AA Change: S347L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000144056
Gene: ENSMUSG00000016128
AA Change: S347L
| 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: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
100% (73/73) |
| 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: 73 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aox4 |
T |
G |
1: 58,291,233 (GRCm39) |
S784A |
probably benign |
Het |
| Ap3d1 |
T |
A |
10: 80,552,425 (GRCm39) |
H581L |
probably benign |
Het |
| Atp11a |
T |
C |
8: 12,899,781 (GRCm39) |
Y915H |
probably damaging |
Het |
| Atp4b |
T |
C |
8: 13,437,514 (GRCm39) |
D213G |
probably benign |
Het |
| Bcl11a |
A |
G |
11: 24,113,640 (GRCm39) |
S328G |
probably benign |
Het |
| Bean1 |
CT |
C |
8: 104,908,664 (GRCm39) |
|
probably null |
Het |
| Cadps2 |
T |
A |
6: 23,410,876 (GRCm39) |
Y685F |
probably damaging |
Het |
| Ccdc88b |
C |
T |
19: 6,831,203 (GRCm39) |
A580T |
probably benign |
Het |
| Cdc42bpa |
GACAACA |
GACA |
1: 179,958,373 (GRCm39) |
|
probably benign |
Het |
| Cep152 |
A |
T |
2: 125,408,155 (GRCm39) |
V1396D |
possibly damaging |
Het |
| Ces1c |
T |
C |
8: 93,833,254 (GRCm39) |
I404V |
probably benign |
Het |
| Cr2 |
A |
T |
1: 194,851,581 (GRCm39) |
M137K |
possibly damaging |
Het |
| Cyp2d40 |
T |
C |
15: 82,644,454 (GRCm39) |
Y257C |
unknown |
Het |
| Dennd1c |
T |
A |
17: 57,381,512 (GRCm39) |
D116V |
probably damaging |
Het |
| Dph2 |
G |
A |
4: 117,747,575 (GRCm39) |
R270* |
probably null |
Het |
| Dpp8 |
A |
C |
9: 64,985,318 (GRCm39) |
H792P |
possibly damaging |
Het |
| Dusp29 |
T |
C |
14: 21,736,763 (GRCm39) |
D113G |
probably benign |
Het |
| Efs |
T |
C |
14: 55,157,756 (GRCm39) |
E185G |
possibly damaging |
Het |
| Eml3 |
A |
G |
19: 8,914,056 (GRCm39) |
E480G |
probably damaging |
Het |
| Fam193a |
A |
G |
5: 34,583,828 (GRCm39) |
T336A |
probably benign |
Het |
| Fermt1 |
C |
T |
2: 132,783,852 (GRCm39) |
|
probably benign |
Het |
| Galnt4 |
T |
A |
10: 98,945,955 (GRCm39) |
V560D |
probably damaging |
Het |
| Gbp2b |
C |
A |
3: 142,309,327 (GRCm39) |
T146K |
probably damaging |
Het |
| Gbp5 |
C |
T |
3: 142,211,308 (GRCm39) |
T346I |
probably damaging |
Het |
| Glrx |
G |
T |
13: 75,995,317 (GRCm39) |
C79F |
probably damaging |
Het |
| Glt8d2 |
T |
A |
10: 82,490,616 (GRCm39) |
T225S |
probably damaging |
Het |
| Grm3 |
A |
G |
5: 9,562,483 (GRCm39) |
F456L |
possibly damaging |
Het |
| Gse1 |
T |
G |
8: 121,303,185 (GRCm39) |
S1109A |
unknown |
Het |
| Gstp3 |
A |
T |
19: 4,108,573 (GRCm39) |
L63Q |
probably damaging |
Het |
| Hapln3 |
G |
A |
7: 78,767,239 (GRCm39) |
R267W |
probably benign |
Het |
| Herc4 |
T |
A |
10: 63,147,286 (GRCm39) |
I801N |
possibly damaging |
Het |
| Ido1 |
G |
T |
8: 25,077,880 (GRCm39) |
D153E |
probably benign |
Het |
| Itpr3 |
G |
A |
17: 27,337,651 (GRCm39) |
|
probably benign |
Het |
| Kcnj9 |
T |
A |
1: 172,153,360 (GRCm39) |
S255C |
probably damaging |
Het |
| Kpna3 |
T |
C |
14: 61,629,294 (GRCm39) |
N39D |
probably benign |
Het |
| Krt39 |
A |
T |
11: 99,409,095 (GRCm39) |
S269T |
probably damaging |
Het |
| Lfng |
G |
A |
5: 140,598,978 (GRCm39) |
V296I |
probably benign |
Het |
| Lrit3 |
T |
A |
3: 129,585,132 (GRCm39) |
I209F |
probably damaging |
Het |
| Map4k5 |
T |
A |
12: 69,870,275 (GRCm39) |
D523V |
possibly damaging |
Het |
| Mdn1 |
C |
T |
4: 32,678,328 (GRCm39) |
P652L |
probably benign |
Het |
| Med30 |
G |
A |
15: 52,584,516 (GRCm39) |
V145I |
possibly damaging |
Het |
| Megf6 |
T |
A |
4: 154,326,860 (GRCm39) |
D163E |
probably damaging |
Het |
| Meltf |
T |
A |
16: 31,709,522 (GRCm39) |
|
probably benign |
Het |
| Mindy4 |
T |
C |
6: 55,255,223 (GRCm39) |
L567P |
probably benign |
Het |
| Mppe1 |
T |
C |
18: 67,370,472 (GRCm39) |
D75G |
probably damaging |
Het |
| Muc4 |
C |
T |
16: 32,754,673 (GRCm38) |
P1516S |
probably benign |
Het |
| Myo3b |
C |
A |
2: 70,069,160 (GRCm39) |
F494L |
probably damaging |
Het |
| Nedd4l |
A |
G |
18: 65,298,688 (GRCm39) |
T226A |
probably benign |
Het |
| Nod1 |
A |
G |
6: 54,921,277 (GRCm39) |
V347A |
probably benign |
Het |
| Nup210 |
A |
T |
6: 91,019,235 (GRCm39) |
|
probably null |
Het |
| Nup210l |
A |
G |
3: 90,025,932 (GRCm39) |
R185G |
probably damaging |
Het |
| Oma1 |
T |
C |
4: 103,210,829 (GRCm39) |
L445S |
probably damaging |
Het |
| Or13p10 |
A |
T |
4: 118,523,502 (GRCm39) |
M263L |
probably benign |
Het |
| Or5ac20 |
A |
T |
16: 59,104,452 (GRCm39) |
M136K |
probably damaging |
Het |
| Or8g36 |
A |
G |
9: 39,422,770 (GRCm39) |
L82P |
probably damaging |
Het |
| Oxsm |
A |
T |
14: 16,242,677 (GRCm38) |
F31I |
probably benign |
Het |
| Pdcd5 |
A |
T |
7: 35,346,795 (GRCm39) |
M1K |
probably null |
Het |
| Pkd1l2 |
T |
C |
8: 117,740,615 (GRCm39) |
T2161A |
possibly damaging |
Het |
| Pla2g3 |
A |
T |
11: 3,442,151 (GRCm39) |
S404C |
probably null |
Het |
| Plec |
A |
G |
15: 76,078,560 (GRCm39) |
V60A |
unknown |
Het |
| Prpsap2 |
A |
G |
11: 61,643,736 (GRCm39) |
S66P |
possibly damaging |
Het |
| Rarb |
A |
G |
14: 16,436,804 (GRCm38) |
L239P |
probably damaging |
Het |
| Ryr3 |
A |
T |
2: 112,583,395 (GRCm39) |
Y2845* |
probably null |
Het |
| Spta1 |
T |
C |
1: 174,045,548 (GRCm39) |
C1569R |
probably damaging |
Het |
| Tmub1 |
A |
T |
5: 24,651,680 (GRCm39) |
S80T |
probably benign |
Het |
| Trpv5 |
A |
G |
6: 41,647,847 (GRCm39) |
F322S |
probably damaging |
Het |
| Vmn2r5 |
G |
A |
3: 64,411,203 (GRCm39) |
A455V |
probably benign |
Het |
| Washc4 |
T |
A |
10: 83,405,882 (GRCm39) |
N459K |
probably damaging |
Het |
| Wdr11 |
C |
T |
7: 129,207,437 (GRCm39) |
R300* |
probably null |
Het |
| Zer1 |
A |
G |
2: 29,993,430 (GRCm39) |
F559L |
probably damaging |
Het |
| Zfat |
A |
T |
15: 68,052,519 (GRCm39) |
V425D |
probably damaging |
Het |
| Zfp738 |
G |
A |
13: 67,817,910 (GRCm39) |
L694F |
|
Het |
| Zfp839 |
C |
T |
12: 110,835,277 (GRCm39) |
A844V |
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 |
|
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'- TGTTGTCCGACCTTCTGAGAC -3'
(R):5'- GGATCACAAACCAGGAACGTTC -3'
Sequencing Primer
(F):5'- ACCTTCTGAGACAGAGTTGC -3'
(R):5'- GGAACGTTCCCCAAGGCAC -3'
|
| Posted On |
2021-08-02 |
Incidental Mutation