Incidental Mutation 'R8263:Stard13'
| ID |
639773 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Stard13
|
| Ensembl Gene |
ENSMUSG00000016128 |
| Gene Name |
StAR related lipid transfer domain containing 13 |
| Synonyms |
GT650, DLC2 |
| MMRRC Submission |
067688-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8263 (G1)
|
| Quality Score |
138.008 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
150960975-151157301 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 151157106 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Valine
at position 25
(A25V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000116705
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000126770]
[ENSMUST00000129088]
[ENSMUST00000202365]
|
| AlphaFold |
Q923Q2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000126770
AA Change: A25V
PolyPhen 2
Score 0.031 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000122468
Gene: ENSMUSG00000016128
AA Change: A25V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:SAM_2
|
44 |
105 |
7.6e-8 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000129088
AA Change: A25V
PolyPhen 2
Score 0.811 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000116705
Gene: ENSMUSG00000016128
AA Change: A25V
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:SAM
|
40 |
104 |
6e-32 |
BLAST |
|
PDB:2JW2|A
|
42 |
104 |
8e-33 |
PDB |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000202365
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
| 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: 81 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A630095N17Rik |
T |
A |
1: 75,208,683 (GRCm39) |
R12S |
unknown |
Het |
| Ankrd10 |
C |
T |
8: 11,665,707 (GRCm39) |
V298I |
probably benign |
Het |
| Atg4d |
T |
A |
9: 21,178,335 (GRCm39) |
M151K |
probably damaging |
Het |
| Calhm5 |
C |
A |
10: 33,972,192 (GRCm39) |
C81F |
probably damaging |
Het |
| Casp8ap2 |
T |
A |
4: 32,644,072 (GRCm39) |
H1048Q |
probably damaging |
Het |
| Cd300ld2 |
A |
G |
11: 114,903,192 (GRCm39) |
S218P |
unknown |
Het |
| Clec3a |
T |
C |
8: 115,152,369 (GRCm39) |
V125A |
probably benign |
Het |
| Cnot6 |
A |
T |
11: 49,573,002 (GRCm39) |
Y241N |
probably damaging |
Het |
| Dnah1 |
A |
T |
14: 31,015,134 (GRCm39) |
F1686Y |
probably damaging |
Het |
| Dnah12 |
A |
G |
14: 26,613,421 (GRCm39) |
K1285E |
noncoding transcript |
Het |
| Dop1b |
T |
C |
16: 93,559,083 (GRCm39) |
S610P |
possibly damaging |
Het |
| Ehhadh |
A |
T |
16: 21,592,295 (GRCm39) |
L136H |
probably damaging |
Het |
| Epha7 |
A |
G |
4: 28,821,149 (GRCm39) |
T105A |
probably damaging |
Het |
| Etl4 |
A |
T |
2: 20,748,965 (GRCm39) |
E434D |
probably benign |
Het |
| Fastkd2 |
T |
C |
1: 63,770,968 (GRCm39) |
V108A |
probably benign |
Het |
| Fat2 |
G |
A |
11: 55,174,962 (GRCm39) |
T1917I |
probably benign |
Het |
| Fbxo45 |
A |
G |
16: 32,065,533 (GRCm39) |
S33P |
unknown |
Het |
| Fig4 |
A |
T |
10: 41,143,711 (GRCm39) |
Y249* |
probably null |
Het |
| Fryl |
T |
C |
5: 73,238,348 (GRCm39) |
Y1466C |
probably damaging |
Het |
| G530012D18Rik |
C |
G |
1: 85,504,935 (GRCm39) |
D113E |
unknown |
Het |
| Glod4 |
T |
C |
11: 76,125,318 (GRCm39) |
D147G |
possibly damaging |
Het |
| Gm12695 |
T |
G |
4: 96,651,046 (GRCm39) |
M136L |
probably benign |
Het |
| Gm5422 |
A |
G |
10: 31,125,099 (GRCm39) |
T313A |
noncoding transcript |
Het |
| Hydin |
C |
A |
8: 111,178,705 (GRCm39) |
A1100D |
probably benign |
Het |
| Ift172 |
G |
A |
5: 31,422,681 (GRCm39) |
A923V |
possibly damaging |
Het |
| Irgc |
G |
A |
7: 24,132,107 (GRCm39) |
H237Y |
probably damaging |
Het |
| Itga11 |
T |
C |
9: 62,604,262 (GRCm39) |
I50T |
possibly damaging |
Het |
| Itpr3 |
C |
T |
17: 27,334,887 (GRCm39) |
Q2134* |
probably null |
Het |
| Kat8 |
A |
T |
7: 127,523,653 (GRCm39) |
D292V |
possibly damaging |
Het |
| Kdm2a |
A |
G |
19: 4,374,392 (GRCm39) |
M913T |
possibly damaging |
Het |
| Larp4 |
T |
C |
15: 99,883,961 (GRCm39) |
V66A |
probably benign |
Het |
| Loxhd1 |
A |
G |
18: 77,462,858 (GRCm39) |
D899G |
probably damaging |
Het |
| Lrrc47 |
G |
T |
4: 154,100,486 (GRCm39) |
R354L |
probably damaging |
Het |
| Lss |
C |
T |
10: 76,367,739 (GRCm39) |
R24C |
probably damaging |
Het |
| Mmp14 |
C |
T |
14: 54,673,244 (GRCm39) |
R51C |
probably damaging |
Het |
| Mon1a |
C |
T |
9: 107,775,993 (GRCm39) |
T37I |
probably benign |
Het |
| Mtcl2 |
A |
G |
2: 156,869,510 (GRCm39) |
W1042R |
possibly damaging |
Het |
| Nacc2 |
A |
C |
2: 25,952,240 (GRCm39) |
V372G |
probably damaging |
Het |
| Ncapg |
T |
C |
5: 45,849,134 (GRCm39) |
V690A |
probably benign |
Het |
| Nhej1 |
A |
G |
1: 75,006,896 (GRCm39) |
L152P |
probably damaging |
Het |
| Nol4l |
A |
T |
2: 153,259,337 (GRCm39) |
S522R |
probably damaging |
Het |
| Nr0b2 |
A |
G |
4: 133,281,241 (GRCm39) |
Y169C |
probably damaging |
Het |
| Numa1 |
A |
G |
7: 101,648,491 (GRCm39) |
M741V |
probably benign |
Het |
| Or10d1b |
A |
G |
9: 39,613,453 (GRCm39) |
M204T |
possibly damaging |
Het |
| Or8g28 |
A |
G |
9: 39,169,899 (GRCm39) |
L26P |
probably damaging |
Het |
| Pebp1 |
C |
A |
5: 117,425,473 (GRCm39) |
|
probably null |
Het |
| Pik3ip1 |
A |
T |
11: 3,291,581 (GRCm39) |
I217F |
probably damaging |
Het |
| Plekhg1 |
T |
A |
10: 3,907,651 (GRCm39) |
I911N |
|
Het |
| Pnpla8 |
T |
C |
12: 44,342,846 (GRCm39) |
I534T |
probably damaging |
Het |
| Ppp2r2a |
A |
T |
14: 67,261,205 (GRCm39) |
F172I |
probably damaging |
Het |
| Rab7 |
C |
T |
6: 87,989,292 (GRCm39) |
M59I |
probably benign |
Het |
| Rbm34 |
T |
C |
8: 127,692,139 (GRCm39) |
N201S |
probably benign |
Het |
| Rfx1 |
G |
T |
8: 84,821,483 (GRCm39) |
R764L |
probably damaging |
Het |
| Rnase12 |
T |
A |
14: 51,294,580 (GRCm39) |
D33V |
probably damaging |
Het |
| Rnf121 |
A |
G |
7: 101,684,532 (GRCm39) |
L127P |
probably damaging |
Het |
| Rtl1 |
C |
A |
12: 109,560,180 (GRCm39) |
R553L |
probably damaging |
Het |
| Scn8a |
T |
C |
15: 100,881,736 (GRCm39) |
L601P |
probably damaging |
Het |
| Scyl2 |
G |
T |
10: 89,476,525 (GRCm39) |
Q867K |
possibly damaging |
Het |
| Sgtb |
T |
C |
13: 104,268,692 (GRCm39) |
F213L |
probably benign |
Het |
| Slc35f4 |
A |
G |
14: 49,551,084 (GRCm39) |
V260A |
probably damaging |
Het |
| Slfn14 |
A |
G |
11: 83,174,299 (GRCm39) |
Y231H |
possibly damaging |
Het |
| Sppl2b |
TGTCACAGGT |
TGT |
10: 80,701,903 (GRCm39) |
|
probably null |
Het |
| Stk38 |
C |
T |
17: 29,203,161 (GRCm39) |
R135H |
probably damaging |
Het |
| Svil |
A |
G |
18: 5,108,679 (GRCm39) |
D1939G |
probably damaging |
Het |
| Tasor2 |
C |
T |
13: 3,625,286 (GRCm39) |
V1555I |
possibly damaging |
Het |
| Tasor2 |
G |
T |
13: 3,640,016 (GRCm39) |
P374T |
probably benign |
Het |
| Tbc1d7 |
A |
G |
13: 43,323,340 (GRCm39) |
V17A |
possibly damaging |
Het |
| Trpc4 |
T |
C |
3: 54,129,756 (GRCm39) |
V174A |
probably damaging |
Het |
| Ttn |
G |
T |
2: 76,619,028 (GRCm39) |
T16117K |
probably damaging |
Het |
| Tubb3 |
T |
A |
8: 124,147,868 (GRCm39) |
M267K |
possibly damaging |
Het |
| Upk1b |
T |
C |
16: 38,604,585 (GRCm39) |
T147A |
probably damaging |
Het |
| Vmn2r107 |
G |
T |
17: 20,580,614 (GRCm39) |
C517F |
probably damaging |
Het |
| Vmn2r112 |
A |
G |
17: 22,824,140 (GRCm39) |
D465G |
probably damaging |
Het |
| Vmn2r73 |
A |
T |
7: 85,507,619 (GRCm39) |
H564Q |
probably benign |
Het |
| Vmn2r79 |
A |
G |
7: 86,686,726 (GRCm39) |
I702M |
possibly damaging |
Het |
| Vmn2r84 |
A |
G |
10: 130,227,037 (GRCm39) |
V267A |
probably damaging |
Het |
| Zfp445 |
T |
C |
9: 122,681,878 (GRCm39) |
I688V |
probably benign |
Het |
| Zfp955a |
C |
T |
17: 33,463,087 (GRCm39) |
V15M |
probably damaging |
Het |
| Zfp960 |
T |
A |
17: 17,308,202 (GRCm39) |
C305* |
probably null |
Het |
| Zfp964 |
A |
G |
8: 70,116,345 (GRCm39) |
D315G |
possibly damaging |
Het |
| Zmynd10 |
T |
A |
9: 107,426,516 (GRCm39) |
I183K |
possibly 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 |
|
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'- AGTCACAGCTACCTTTGCGC -3'
(R):5'- CCTAACTTTGGGATGAGAGGG -3'
Sequencing Primer
(F):5'- CTACCTTTGCGCCCGCC -3'
(R):5'- AAAGACCTGGAGCCGGCTG -3'
|
| Posted On |
2020-07-28 |
Incidental Mutation