Incidental Mutation 'IGL02827:Stard13'
ID |
361254 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
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 # |
IGL02827
|
Quality Score |
|
Status
|
|
Chromosome |
5 |
Chromosomal Location |
150960975-151157301 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 150986591 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Methionine
at position 188
(I188M)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000144056
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000062015]
[ENSMUST00000110483]
[ENSMUST00000129088]
[ENSMUST00000202111]
[ENSMUST00000202365]
|
AlphaFold |
Q923Q2 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000062015
AA Change: I306M
PolyPhen 2
Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)
|
SMART Domains |
Protein: ENSMUSP00000053232 Gene: ENSMUSG00000016128 AA Change: I306M
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: I306M
PolyPhen 2
Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)
|
SMART Domains |
Protein: ENSMUSP00000106109 Gene: ENSMUSG00000016128 AA Change: I306M
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 benign
Transcript: ENSMUST00000202111
AA Change: I188M
PolyPhen 2
Score 0.066 (Sensitivity: 0.94; Specificity: 0.84)
|
SMART Domains |
Protein: ENSMUSP00000144056 Gene: ENSMUSG00000016128 AA Change: I188M
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 |
noncoding transcript
Transcript: ENSMUST00000202385
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000202365
|
Coding Region Coverage |
|
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: 32 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca7 |
T |
C |
10: 79,845,699 (GRCm39) |
S1554P |
probably damaging |
Het |
Actn2 |
A |
T |
13: 12,290,085 (GRCm39) |
L152Q |
probably damaging |
Het |
Afg3l2 |
T |
C |
18: 67,559,015 (GRCm39) |
I369V |
probably damaging |
Het |
Aqp6 |
G |
A |
15: 99,500,892 (GRCm39) |
G199S |
probably damaging |
Het |
Asgr2 |
A |
G |
11: 69,987,723 (GRCm39) |
I74V |
probably benign |
Het |
Cebpz |
T |
C |
17: 79,236,760 (GRCm39) |
R702G |
probably damaging |
Het |
Cers1 |
C |
T |
8: 70,774,177 (GRCm39) |
P145S |
probably damaging |
Het |
Ddx21 |
T |
C |
10: 62,434,153 (GRCm39) |
K202R |
probably benign |
Het |
Gphn |
A |
T |
12: 78,655,994 (GRCm39) |
D407V |
probably damaging |
Het |
Hnf1b |
A |
G |
11: 83,746,752 (GRCm39) |
K123E |
probably damaging |
Het |
Ifitm10 |
T |
C |
7: 141,882,317 (GRCm39) |
D151G |
unknown |
Het |
Ifna14 |
T |
A |
4: 88,489,601 (GRCm39) |
K145N |
probably benign |
Het |
Lamc2 |
C |
T |
1: 153,015,527 (GRCm39) |
C602Y |
probably damaging |
Het |
Mrps25 |
T |
C |
6: 92,152,163 (GRCm39) |
E119G |
probably benign |
Het |
Or10ak9 |
A |
T |
4: 118,726,157 (GRCm39) |
M60L |
probably damaging |
Het |
Or1f12 |
A |
G |
13: 21,721,528 (GRCm39) |
S216P |
probably benign |
Het |
Pgm5 |
C |
A |
19: 24,686,659 (GRCm39) |
R516L |
probably benign |
Het |
Pramel31 |
C |
T |
4: 144,090,331 (GRCm39) |
A457V |
probably damaging |
Het |
Rmnd5b |
A |
G |
11: 51,518,849 (GRCm39) |
L48P |
possibly damaging |
Het |
Samd4b |
G |
A |
7: 28,113,546 (GRCm39) |
R140C |
probably damaging |
Het |
Sema3d |
T |
C |
5: 12,635,085 (GRCm39) |
I717T |
probably benign |
Het |
Sh3tc2 |
G |
A |
18: 62,146,230 (GRCm39) |
S1203N |
probably benign |
Het |
Smpdl3a |
A |
G |
10: 57,678,592 (GRCm39) |
T132A |
probably damaging |
Het |
Stk17b |
T |
C |
1: 53,815,701 (GRCm39) |
T33A |
probably benign |
Het |
Stxbp3 |
A |
T |
3: 108,717,211 (GRCm39) |
I264N |
probably damaging |
Het |
Tmem60 |
T |
A |
5: 21,091,622 (GRCm39) |
F129Y |
probably damaging |
Het |
Trpm1 |
A |
G |
7: 63,868,908 (GRCm39) |
D404G |
probably null |
Het |
Unc79 |
A |
C |
12: 103,041,105 (GRCm39) |
S713R |
possibly damaging |
Het |
Uox |
A |
C |
3: 146,302,951 (GRCm39) |
|
probably benign |
Het |
Vmn2r68 |
T |
C |
7: 84,886,800 (GRCm39) |
D38G |
probably damaging |
Het |
Vps13a |
T |
C |
19: 16,618,998 (GRCm39) |
D2856G |
possibly damaging |
Het |
Vsig10l |
T |
C |
7: 43,114,293 (GRCm39) |
L205P |
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 |
|
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 |
|
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 |
|
Posted On |
2015-12-18 |