Incidental Mutation 'R5771:Stard13'
| ID |
445353 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Stard13
|
| Ensembl Gene |
ENSMUSG00000016128 |
| Gene Name |
StAR related lipid transfer domain containing 13 |
| Synonyms |
GT650, DLC2 |
| MMRRC Submission |
043371-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5771 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
150960975-151157301 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 151113476 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Phenylalanine
at position 28
(L28F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000106109
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000062015]
[ENSMUST00000110483]
[ENSMUST00000126770]
[ENSMUST00000129088]
[ENSMUST00000202365]
|
| AlphaFold |
Q923Q2 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000062015
AA Change: L28F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000053232
Gene: ENSMUSG00000016128
AA Change: L28F
| 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: L28F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000106109
Gene: ENSMUSG00000016128
AA Change: L28F
| 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 |
noncoding transcript
Transcript: ENSMUST00000146814
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000201680
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000202365
|
| Meta Mutation Damage Score |
0.0876 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.8%
|
| Validation Efficiency |
95% (87/92) |
| 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 |
|---|
| Abca13 |
T |
A |
11: 9,241,411 (GRCm39) |
N1091K |
probably damaging |
Het |
| Adam3 |
C |
T |
8: 25,197,427 (GRCm39) |
V335I |
probably benign |
Het |
| AI504432 |
G |
A |
3: 106,956,299 (GRCm39) |
|
noncoding transcript |
Het |
| Apcdd1 |
A |
G |
18: 63,070,027 (GRCm39) |
Y98C |
probably damaging |
Het |
| Aqp9 |
C |
T |
9: 71,030,146 (GRCm39) |
A214T |
probably damaging |
Het |
| Atp8b4 |
T |
C |
2: 126,220,664 (GRCm39) |
D578G |
probably benign |
Het |
| Bcdin3d |
T |
C |
15: 99,368,717 (GRCm39) |
M161V |
probably benign |
Het |
| Bicral |
C |
T |
17: 47,136,284 (GRCm39) |
V309I |
possibly damaging |
Het |
| Ccdc88b |
C |
T |
19: 6,831,203 (GRCm39) |
A580T |
probably benign |
Het |
| Cdhr2 |
T |
A |
13: 54,874,508 (GRCm39) |
V860E |
probably damaging |
Het |
| Clhc1 |
A |
T |
11: 29,513,854 (GRCm39) |
N302Y |
possibly damaging |
Het |
| Cnnm2 |
T |
A |
19: 46,845,434 (GRCm39) |
|
probably null |
Het |
| Crebbp |
T |
C |
16: 3,937,636 (GRCm39) |
N709S |
probably benign |
Het |
| Ctnnal1 |
T |
C |
4: 56,826,328 (GRCm39) |
S512G |
probably benign |
Het |
| Dgcr8 |
C |
T |
16: 18,090,632 (GRCm39) |
V581I |
probably benign |
Het |
| Dnaaf10 |
A |
G |
11: 17,174,638 (GRCm39) |
T169A |
probably benign |
Het |
| Dnah7c |
G |
A |
1: 46,678,825 (GRCm39) |
V1790I |
probably benign |
Het |
| Efl1 |
A |
G |
7: 82,341,732 (GRCm39) |
K452E |
probably benign |
Het |
| Epb42 |
A |
C |
2: 120,852,301 (GRCm39) |
V564G |
probably damaging |
Het |
| Etv4 |
G |
A |
11: 101,662,282 (GRCm39) |
P335S |
probably damaging |
Het |
| Fbxw9 |
T |
A |
8: 85,791,201 (GRCm39) |
|
probably null |
Het |
| Fcrl2 |
A |
T |
3: 87,170,775 (GRCm39) |
L3Q |
probably damaging |
Het |
| Frmd8 |
C |
A |
19: 5,919,478 (GRCm39) |
A190S |
probably benign |
Het |
| Gcm2 |
C |
T |
13: 41,256,991 (GRCm39) |
D253N |
probably benign |
Het |
| Gfm1 |
T |
C |
3: 67,342,895 (GRCm39) |
V143A |
probably benign |
Het |
| Gigyf2 |
T |
C |
1: 87,374,050 (GRCm39) |
M1226T |
possibly damaging |
Het |
| Gm10110 |
C |
T |
14: 90,134,675 (GRCm39) |
|
noncoding transcript |
Het |
| Gm11595 |
G |
A |
11: 99,663,381 (GRCm39) |
R100C |
unknown |
Het |
| Gm20939 |
T |
G |
17: 95,181,767 (GRCm39) |
C55W |
possibly damaging |
Het |
| Gm5407 |
T |
A |
16: 49,117,229 (GRCm39) |
|
noncoding transcript |
Het |
| Golga4 |
A |
G |
9: 118,387,351 (GRCm39) |
E1491G |
probably damaging |
Het |
| Hdac11 |
T |
A |
6: 91,146,364 (GRCm39) |
|
probably null |
Het |
| Hs3st3b1 |
C |
T |
11: 63,780,098 (GRCm39) |
S343N |
probably benign |
Het |
| Igkv12-44 |
G |
A |
6: 69,792,075 (GRCm39) |
P4S |
probably benign |
Het |
| Igkv1-35 |
C |
T |
6: 69,988,231 (GRCm39) |
V22I |
probably benign |
Het |
| Kcns2 |
A |
T |
15: 34,839,068 (GRCm39) |
T144S |
probably benign |
Het |
| Khdc1c |
T |
C |
1: 21,439,266 (GRCm39) |
V84A |
possibly damaging |
Het |
| Kif4-ps |
T |
A |
12: 101,115,544 (GRCm39) |
|
noncoding transcript |
Het |
| Lamc2 |
T |
G |
1: 153,017,340 (GRCm39) |
Y549S |
probably benign |
Het |
| Lect2 |
T |
A |
13: 56,696,154 (GRCm39) |
I8F |
probably benign |
Het |
| Loxl3 |
T |
A |
6: 83,012,780 (GRCm39) |
|
probably null |
Het |
| Lrwd1 |
A |
T |
5: 136,152,516 (GRCm39) |
I545N |
possibly damaging |
Het |
| Ltbp3 |
T |
C |
19: 5,797,572 (GRCm39) |
C437R |
probably damaging |
Het |
| Lypd3 |
T |
C |
7: 24,339,787 (GRCm39) |
S285P |
probably benign |
Het |
| Mast2 |
T |
A |
4: 116,190,622 (GRCm39) |
H83L |
possibly damaging |
Het |
| Mfsd4b4 |
A |
G |
10: 39,768,635 (GRCm39) |
F153L |
probably benign |
Het |
| Ms4a4b |
T |
A |
19: 11,438,606 (GRCm39) |
|
probably null |
Het |
| Nbr1 |
T |
A |
11: 101,450,364 (GRCm39) |
L41Q |
probably damaging |
Het |
| Nlrp4a |
G |
A |
7: 26,152,814 (GRCm39) |
C628Y |
probably damaging |
Het |
| Nup160 |
C |
T |
2: 90,553,740 (GRCm39) |
R1157C |
probably damaging |
Het |
| Obscn |
T |
A |
11: 58,891,533 (GRCm39) |
I7000F |
unknown |
Het |
| Or4k41 |
T |
A |
2: 111,280,406 (GRCm39) |
|
probably null |
Het |
| Or4p21 |
A |
T |
2: 88,276,652 (GRCm39) |
V210D |
possibly damaging |
Het |
| Or5ac15 |
TGAAGAAGAA |
TGAAGAA |
16: 58,940,335 (GRCm39) |
|
probably benign |
Het |
| Or5b122 |
T |
G |
19: 13,562,872 (GRCm39) |
V25G |
probably damaging |
Het |
| Or8g2 |
A |
T |
9: 39,821,546 (GRCm39) |
Y149F |
probably damaging |
Het |
| Pdilt |
T |
C |
7: 119,094,217 (GRCm39) |
K345E |
probably damaging |
Het |
| Ppp1r12b |
A |
T |
1: 134,701,162 (GRCm39) |
|
probably null |
Het |
| Ppp2r1b |
A |
T |
9: 50,778,132 (GRCm39) |
Q219L |
probably damaging |
Het |
| Prim2 |
A |
G |
1: 33,493,232 (GRCm39) |
S485P |
unknown |
Het |
| Prkdc |
A |
G |
16: 15,482,097 (GRCm39) |
D380G |
probably damaging |
Het |
| Psmg1 |
A |
G |
16: 95,783,369 (GRCm39) |
L243S |
probably damaging |
Het |
| Rapgef5 |
T |
A |
12: 117,685,061 (GRCm39) |
V270D |
probably benign |
Het |
| Rnft1 |
C |
T |
11: 86,384,032 (GRCm39) |
R311* |
probably null |
Het |
| Scaper |
T |
A |
9: 55,724,075 (GRCm39) |
I628L |
probably damaging |
Het |
| Serpina3j |
C |
A |
12: 104,281,185 (GRCm39) |
H119Q |
possibly damaging |
Het |
| Slamf6 |
G |
A |
1: 171,745,341 (GRCm39) |
V23I |
probably damaging |
Het |
| Slc12a5 |
T |
A |
2: 164,815,688 (GRCm39) |
M45K |
possibly damaging |
Het |
| Slc25a11 |
A |
C |
11: 70,537,016 (GRCm39) |
V13G |
probably damaging |
Het |
| Slc7a14 |
T |
A |
3: 31,292,856 (GRCm39) |
Y143F |
probably damaging |
Het |
| Spryd3 |
A |
G |
15: 102,025,342 (GRCm39) |
|
probably benign |
Het |
| Susd2 |
C |
T |
10: 75,473,853 (GRCm39) |
A581T |
probably damaging |
Het |
| Taf2 |
A |
G |
15: 54,923,335 (GRCm39) |
V314A |
probably benign |
Het |
| Tas2r106 |
T |
C |
6: 131,655,086 (GRCm39) |
N255S |
possibly damaging |
Het |
| Tbxa2r |
T |
A |
10: 81,168,775 (GRCm39) |
W155R |
probably damaging |
Het |
| Tcf3 |
A |
G |
10: 80,257,450 (GRCm39) |
|
probably benign |
Het |
| Ticam1 |
TCACACA |
TCACA |
17: 56,577,629 (GRCm39) |
|
probably null |
Het |
| Vmn2r55 |
T |
C |
7: 12,404,959 (GRCm39) |
D148G |
probably damaging |
Het |
| Vmn2r77 |
A |
G |
7: 86,461,235 (GRCm39) |
N854D |
probably benign |
Het |
| Vstm4 |
A |
T |
14: 32,626,526 (GRCm39) |
H64L |
probably benign |
Het |
| Wnk2 |
T |
C |
13: 49,256,276 (GRCm39) |
T282A |
probably damaging |
Het |
| Zscan4c |
A |
T |
7: 10,743,574 (GRCm39) |
D391V |
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 |
|
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'- ACAGACTGCTTAGAACCGAAGTC -3'
(R):5'- AAAATCGCTGGGTCTGTGGC -3'
Sequencing Primer
(F):5'- GTTATCTGAAAGAGTTCCACGCAGC -3'
(R):5'- GGGTCTGTGGCTCTCTCC -3'
|
| Posted On |
2016-11-21 |
Incidental Mutation