Incidental Mutation 'R7962:Stard13'
| ID |
650159 |
| Institutional Source |
Beutler Lab
|
| 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 # |
R7962 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
150960975-151157301 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 150975838 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 777
(I777F)
|
| 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: I777F
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000053232
Gene: ENSMUSG00000016128
AA Change: I777F
| 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: I758F
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000106109
Gene: ENSMUSG00000016128
AA Change: I758F
| 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: I640F
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000144056
Gene: ENSMUSG00000016128
AA Change: I640F
| 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: 99.2%
|
| 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: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrg6 |
A |
G |
10: 14,296,428 (GRCm39) |
F991L |
probably damaging |
Het |
| Ahnak |
A |
G |
19: 8,990,164 (GRCm39) |
D3816G |
unknown |
Het |
| Arhgdig |
T |
C |
17: 26,418,608 (GRCm39) |
T153A |
probably damaging |
Het |
| Ash2l |
T |
C |
8: 26,329,792 (GRCm39) |
D122G |
probably damaging |
Het |
| Bora |
A |
G |
14: 99,310,162 (GRCm39) |
K497R |
probably benign |
Het |
| Btbd9 |
T |
C |
17: 30,736,177 (GRCm39) |
H312R |
probably damaging |
Het |
| Cbr2 |
T |
C |
11: 120,620,609 (GRCm39) |
D225G |
probably benign |
Het |
| Cemip |
C |
A |
7: 83,652,616 (GRCm39) |
|
probably benign |
Het |
| Cfap70 |
G |
A |
14: 20,486,854 (GRCm39) |
T275M |
probably benign |
Het |
| Clca4b |
T |
C |
3: 144,622,421 (GRCm39) |
D548G |
possibly damaging |
Het |
| Ctsf |
T |
G |
19: 4,906,567 (GRCm39) |
F165V |
probably damaging |
Het |
| Cyp3a44 |
T |
A |
5: 145,738,135 (GRCm39) |
I57L |
probably benign |
Het |
| Dbx2 |
C |
T |
15: 95,552,199 (GRCm39) |
G149S |
probably benign |
Het |
| Dennd2a |
A |
G |
6: 39,457,207 (GRCm39) |
V745A |
possibly damaging |
Het |
| Dock10 |
A |
T |
1: 80,564,085 (GRCm39) |
S509R |
possibly damaging |
Het |
| Enpp3 |
T |
C |
10: 24,660,752 (GRCm39) |
Y630C |
probably damaging |
Het |
| Eomes |
C |
T |
9: 118,307,574 (GRCm39) |
|
probably benign |
Het |
| Fchsd1 |
A |
T |
18: 38,097,212 (GRCm39) |
V385E |
probably damaging |
Het |
| Flg |
A |
T |
3: 93,193,984 (GRCm39) |
H34L |
unknown |
Het |
| Frs3 |
G |
T |
17: 48,010,463 (GRCm39) |
E32D |
possibly damaging |
Het |
| Gm14443 |
C |
T |
2: 175,012,035 (GRCm39) |
C137Y |
probably benign |
Het |
| H3c13 |
C |
A |
3: 96,176,309 (GRCm39) |
Y100* |
probably null |
Het |
| Havcr1 |
T |
A |
11: 46,643,402 (GRCm39) |
C107* |
probably null |
Het |
| Hectd4 |
C |
T |
5: 121,448,692 (GRCm39) |
R347W |
probably damaging |
Het |
| Hspbp1 |
A |
G |
7: 4,684,841 (GRCm39) |
|
probably null |
Het |
| Irs1 |
C |
T |
1: 82,266,443 (GRCm39) |
R591H |
possibly damaging |
Het |
| Kif5b |
A |
G |
18: 6,241,040 (GRCm39) |
V23A |
probably benign |
Het |
| Myo1e |
A |
T |
9: 70,242,501 (GRCm39) |
I339F |
possibly damaging |
Het |
| Nkx2-5 |
T |
C |
17: 27,058,150 (GRCm39) |
Y268C |
probably damaging |
Het |
| Or7g12 |
T |
C |
9: 18,899,952 (GRCm39) |
S223P |
probably damaging |
Het |
| Polrmt |
T |
C |
10: 79,574,623 (GRCm39) |
M857V |
probably damaging |
Het |
| Prkd3 |
T |
A |
17: 79,315,691 (GRCm39) |
M1L |
not run |
Het |
| Prss3b |
A |
C |
6: 41,012,387 (GRCm39) |
F9C |
probably benign |
Het |
| Psmc3 |
T |
A |
2: 90,887,007 (GRCm39) |
V202E |
possibly damaging |
Het |
| Rab3d |
G |
A |
9: 21,826,229 (GRCm39) |
R93C |
probably damaging |
Het |
| Rasgrf2 |
A |
C |
13: 92,167,300 (GRCm39) |
Y258D |
probably damaging |
Het |
| Rassf8 |
G |
A |
6: 145,761,669 (GRCm39) |
|
probably null |
Het |
| Rcbtb1 |
A |
C |
14: 59,459,016 (GRCm39) |
S199R |
probably benign |
Het |
| Rif1 |
T |
G |
2: 51,964,288 (GRCm39) |
V45G |
probably damaging |
Het |
| Riok3 |
G |
A |
18: 12,269,776 (GRCm39) |
G69E |
probably benign |
Het |
| Scn1a |
A |
G |
2: 66,158,786 (GRCm39) |
L378P |
probably damaging |
Het |
| Sil1 |
A |
T |
18: 35,481,719 (GRCm39) |
N113K |
probably benign |
Het |
| Slc35c2 |
C |
T |
2: 165,119,462 (GRCm39) |
D293N |
probably damaging |
Het |
| Slc37a3 |
A |
T |
6: 39,324,325 (GRCm39) |
S308T |
possibly damaging |
Het |
| Smarca5 |
A |
T |
8: 81,463,388 (GRCm39) |
V60E |
probably benign |
Het |
| Smok3c |
T |
A |
5: 138,063,341 (GRCm39) |
V276D |
probably damaging |
Het |
| Snx29 |
G |
A |
16: 11,231,221 (GRCm39) |
|
probably null |
Het |
| Spata24 |
T |
C |
18: 35,795,093 (GRCm39) |
E30G |
probably damaging |
Het |
| Synpo2 |
A |
G |
3: 123,029,635 (GRCm39) |
C8R |
probably benign |
Het |
| Tmem104 |
T |
C |
11: 115,134,307 (GRCm39) |
V281A |
probably damaging |
Het |
| Tmprss11a |
C |
T |
5: 86,567,879 (GRCm39) |
G283R |
probably damaging |
Het |
| Trpc2 |
G |
A |
7: 101,738,388 (GRCm39) |
V457M |
probably benign |
Het |
| Usp53 |
A |
T |
3: 122,728,000 (GRCm39) |
S861T |
possibly damaging |
Het |
| Uty |
G |
T |
Y: 1,154,210 (GRCm39) |
S738* |
probably null |
Het |
| Wdr17 |
C |
T |
8: 55,113,806 (GRCm39) |
|
probably null |
Het |
| Wdr7 |
A |
T |
18: 64,037,157 (GRCm39) |
S1194C |
probably damaging |
Het |
| Zyx |
A |
C |
6: 42,333,505 (GRCm39) |
D477A |
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 |
|
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'- TTCTGAAGAGGTAGATCTGTCAC -3'
(R):5'- TCAGGAGTGAAGTCTCGAATCC -3'
Sequencing Primer
(F):5'- TCACAGAGGAGCATAGTTCAGTTCC -3'
(R):5'- GAGTGAAGTCTCGAATCCATGCC -3'
|
| Posted On |
2020-09-15 |
Incidental Mutation