Incidental Mutation 'R7459:Stard13'
| ID |
578308 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Stard13
|
| Ensembl Gene |
ENSMUSG00000016128 |
| Gene Name |
StAR related lipid transfer domain containing 13 |
| Synonyms |
GT650, DLC2 |
| MMRRC Submission |
045533-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7459 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
150960975-151157301 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 150971064 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Alanine
at position 848
(S848A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000053232
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000062015]
[ENSMUST00000110483]
[ENSMUST00000202111]
|
| AlphaFold |
Q923Q2 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000062015
AA Change: S848A
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000053232
Gene: ENSMUSG00000016128
AA Change: S848A
| 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: S829A
PolyPhen 2
Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000106109
Gene: ENSMUSG00000016128
AA Change: S829A
| 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 damaging
Transcript: ENSMUST00000202111
AA Change: S711A
PolyPhen 2
Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000144056
Gene: ENSMUSG00000016128
AA Change: S711A
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
| 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: 80 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgre1 |
T |
A |
17: 57,756,933 (GRCm39) |
V730E |
probably damaging |
Het |
| Agbl1 |
G |
A |
7: 76,069,814 (GRCm39) |
D449N |
not run |
Het |
| Agr2 |
A |
T |
12: 36,047,452 (GRCm39) |
E96V |
probably benign |
Het |
| Atp1a2 |
A |
C |
1: 172,114,862 (GRCm39) |
S308A |
probably benign |
Het |
| Birc7 |
T |
C |
2: 180,571,150 (GRCm39) |
S71P |
possibly damaging |
Het |
| Brme1 |
T |
G |
8: 84,893,981 (GRCm39) |
S383A |
probably benign |
Het |
| Camk2g |
T |
C |
14: 20,829,275 (GRCm39) |
I73V |
probably damaging |
Het |
| Carf |
C |
A |
1: 60,167,198 (GRCm39) |
T177K |
possibly damaging |
Het |
| Ccdc191 |
C |
T |
16: 43,767,820 (GRCm39) |
Q665* |
probably null |
Het |
| Cd79a |
A |
T |
7: 24,598,567 (GRCm39) |
T39S |
possibly damaging |
Het |
| Ces5a |
C |
A |
8: 94,262,369 (GRCm39) |
|
probably benign |
Het |
| Dkk2 |
C |
A |
3: 131,880,790 (GRCm39) |
T145N |
probably benign |
Het |
| Dot1l |
C |
T |
10: 80,609,007 (GRCm39) |
A188V |
probably damaging |
Het |
| Egfr |
T |
A |
11: 16,846,967 (GRCm39) |
V788D |
probably damaging |
Het |
| Esyt3 |
T |
A |
9: 99,240,117 (GRCm39) |
H109L |
probably benign |
Het |
| Fam234b |
C |
T |
6: 135,188,899 (GRCm39) |
T168I |
probably benign |
Het |
| Fan1 |
G |
T |
7: 63,998,714 (GRCm39) |
S936Y |
probably damaging |
Het |
| Fat2 |
T |
C |
11: 55,194,745 (GRCm39) |
E1098G |
probably damaging |
Het |
| Fcgbp |
A |
G |
7: 27,806,710 (GRCm39) |
D2226G |
possibly damaging |
Het |
| Flacc1 |
T |
G |
1: 58,730,911 (GRCm39) |
E48D |
possibly damaging |
Het |
| Flvcr2 |
T |
C |
12: 85,793,831 (GRCm39) |
V69A |
probably benign |
Het |
| Foxb2 |
T |
A |
19: 16,850,436 (GRCm39) |
H190L |
unknown |
Het |
| Fut4 |
C |
T |
9: 14,662,602 (GRCm39) |
V231M |
possibly damaging |
Het |
| Gtf2a1 |
G |
A |
12: 91,542,426 (GRCm39) |
A91V |
probably benign |
Het |
| Hip1 |
A |
G |
5: 135,443,151 (GRCm39) |
S961P |
probably damaging |
Het |
| Hsf2bp |
C |
T |
17: 32,165,708 (GRCm39) |
V296M |
probably benign |
Het |
| Hspbp1 |
G |
T |
7: 4,687,577 (GRCm39) |
H11Q |
probably benign |
Het |
| Ighv1-84 |
C |
T |
12: 115,944,432 (GRCm39) |
E81K |
probably benign |
Het |
| Isg20l2 |
T |
C |
3: 87,839,485 (GRCm39) |
L232P |
possibly damaging |
Het |
| Isx |
A |
G |
8: 75,619,392 (GRCm39) |
Y181C |
probably benign |
Het |
| Kif9 |
A |
G |
9: 110,348,109 (GRCm39) |
Y644C |
probably damaging |
Het |
| Lin7c |
T |
A |
2: 109,727,682 (GRCm39) |
V177D |
probably benign |
Het |
| Lpin3 |
T |
C |
2: 160,739,220 (GRCm39) |
S343P |
probably benign |
Het |
| Mat1a |
A |
T |
14: 40,842,141 (GRCm39) |
Q246L |
probably benign |
Het |
| Mlkl |
T |
C |
8: 112,060,162 (GRCm39) |
I75V |
probably benign |
Het |
| Ndufa7 |
T |
A |
17: 34,057,140 (GRCm39) |
S107T |
probably damaging |
Het |
| Niban3 |
T |
A |
8: 72,057,671 (GRCm39) |
C516S |
possibly damaging |
Het |
| Nip7 |
T |
A |
8: 107,783,968 (GRCm39) |
C69* |
probably null |
Het |
| Nipa2 |
A |
T |
7: 55,583,089 (GRCm39) |
W219R |
probably damaging |
Het |
| Oas2 |
A |
C |
5: 120,887,775 (GRCm39) |
S22A |
unknown |
Het |
| Obscn |
A |
G |
11: 59,022,483 (GRCm39) |
V754A |
probably benign |
Het |
| Or4a76 |
G |
A |
2: 89,461,012 (GRCm39) |
P77S |
probably damaging |
Het |
| Osbpl1a |
C |
T |
18: 13,066,642 (GRCm39) |
C39Y |
probably damaging |
Het |
| Pcdhb16 |
A |
T |
18: 37,612,606 (GRCm39) |
Y522F |
probably benign |
Het |
| Pced1a |
T |
G |
2: 130,261,744 (GRCm39) |
D303A |
possibly damaging |
Het |
| Peli1 |
T |
A |
11: 21,098,190 (GRCm39) |
Y308* |
probably null |
Het |
| Pfas |
T |
A |
11: 68,879,481 (GRCm39) |
R243W |
|
Het |
| Pik3r5 |
C |
A |
11: 68,383,416 (GRCm39) |
Q412K |
probably benign |
Het |
| Pkd1l1 |
A |
T |
11: 8,852,428 (GRCm39) |
I1135N |
|
Het |
| Prune1 |
C |
A |
3: 95,189,021 (GRCm39) |
|
probably benign |
Het |
| Ptpn4 |
T |
A |
1: 119,587,564 (GRCm39) |
K926N |
probably damaging |
Het |
| Ptpre |
A |
G |
7: 135,269,329 (GRCm39) |
N277S |
probably benign |
Het |
| Raver2 |
A |
T |
4: 100,964,410 (GRCm39) |
D255V |
possibly damaging |
Het |
| Rgs20 |
A |
G |
1: 4,980,857 (GRCm39) |
V187A |
probably benign |
Het |
| Rgs3 |
A |
G |
4: 62,543,391 (GRCm39) |
E242G |
probably benign |
Het |
| Rims2 |
T |
G |
15: 39,381,235 (GRCm39) |
S1055R |
probably benign |
Het |
| Rnf146 |
T |
C |
10: 29,223,640 (GRCm39) |
D82G |
probably benign |
Het |
| Rpgrip1 |
A |
G |
14: 52,378,016 (GRCm39) |
S455G |
probably benign |
Het |
| Samm50 |
T |
C |
15: 84,080,057 (GRCm39) |
|
probably null |
Het |
| Sh3bgr |
A |
G |
16: 96,007,122 (GRCm39) |
K31E |
probably benign |
Het |
| Slc39a8 |
T |
C |
3: 135,592,672 (GRCm39) |
I449T |
probably damaging |
Het |
| Slc5a3 |
A |
T |
16: 91,875,905 (GRCm39) |
Y654F |
probably benign |
Het |
| Spata1 |
T |
A |
3: 146,181,977 (GRCm39) |
L264F |
possibly damaging |
Het |
| Spats2l |
A |
T |
1: 57,838,512 (GRCm39) |
|
probably benign |
Het |
| Stat2 |
A |
G |
10: 128,112,434 (GRCm39) |
S25G |
possibly damaging |
Het |
| Tet2 |
C |
T |
3: 133,186,050 (GRCm39) |
R1129Q |
possibly damaging |
Het |
| Tmem232 |
T |
C |
17: 65,563,384 (GRCm39) |
T670A |
probably benign |
Het |
| Tmem266 |
T |
C |
9: 55,303,883 (GRCm39) |
L3P |
unknown |
Het |
| Tns3 |
A |
T |
11: 8,442,793 (GRCm39) |
D523E |
probably benign |
Het |
| Trim3 |
A |
T |
7: 105,267,015 (GRCm39) |
S455T |
probably damaging |
Het |
| Trim31 |
T |
C |
17: 37,220,554 (GRCm39) |
V490A |
probably damaging |
Het |
| Trmt11 |
A |
C |
10: 30,466,039 (GRCm39) |
N168K |
probably benign |
Het |
| Trpc4 |
G |
A |
3: 54,198,653 (GRCm39) |
V526M |
probably damaging |
Het |
| Ttn |
C |
A |
2: 76,749,482 (GRCm39) |
D3856Y |
possibly damaging |
Het |
| Tulp2 |
G |
A |
7: 45,169,227 (GRCm39) |
D377N |
probably damaging |
Het |
| Ubl7 |
A |
G |
9: 57,821,875 (GRCm39) |
T75A |
probably damaging |
Het |
| Ugt2b34 |
T |
G |
5: 87,049,134 (GRCm39) |
D297A |
possibly damaging |
Het |
| Usp34 |
A |
T |
11: 23,314,458 (GRCm39) |
H800L |
possibly damaging |
Het |
| Utp3 |
C |
A |
5: 88,703,412 (GRCm39) |
L314M |
probably damaging |
Het |
| Zer1 |
A |
G |
2: 30,003,337 (GRCm39) |
Y27H |
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 |
|
|
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'- ATTAGTAGTGCTATGAGCCCAGC -3'
(R):5'- TCTTCAGATGTCCCCAAAGAGC -3'
Sequencing Primer
(F):5'- TATGAGCCCAGCCCAGG -3'
(R):5'- ATGTCCCCAAAGAGCAGCGG -3'
|
| Posted On |
2019-10-07 |
Incidental Mutation