Incidental Mutation 'R2258:Stard13'
| ID |
243527 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Stard13
|
| Ensembl Gene |
ENSMUSG00000016128 |
| Gene Name |
StAR related lipid transfer domain containing 13 |
| Synonyms |
GT650, DLC2 |
| MMRRC Submission |
040258-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R2258 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
150960975-151157301 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 150963196 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 971
(L971P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000144056
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000062015]
[ENSMUST00000110483]
[ENSMUST00000202111]
|
| AlphaFold |
Q923Q2 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000062015
AA Change: L1108P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000053232
Gene: ENSMUSG00000016128
AA Change: L1108P
| 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: L1089P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000106109
Gene: ENSMUSG00000016128
AA Change: L1089P
| 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: L971P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000144056
Gene: ENSMUSG00000016128
AA Change: L971P
| 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: 99.1%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.5%
|
| 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: 79 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700006A11Rik |
T |
C |
3: 124,207,267 (GRCm39) |
N308S |
possibly damaging |
Het |
| Acot5 |
A |
T |
12: 84,122,643 (GRCm39) |
H409L |
possibly damaging |
Het |
| Ang4 |
A |
G |
14: 52,001,955 (GRCm39) |
|
probably benign |
Het |
| Ap3d1 |
A |
G |
10: 80,556,966 (GRCm39) |
S315P |
probably benign |
Het |
| Arhgap15 |
G |
A |
2: 44,276,359 (GRCm39) |
G437R |
probably damaging |
Het |
| Cacna2d1 |
T |
C |
5: 16,562,287 (GRCm39) |
C810R |
probably damaging |
Het |
| Capn5 |
A |
G |
7: 97,785,082 (GRCm39) |
W131R |
probably damaging |
Het |
| Ccnj |
A |
G |
19: 40,834,277 (GRCm39) |
Q292R |
probably benign |
Het |
| Cd177 |
A |
G |
7: 24,455,661 (GRCm39) |
V287A |
possibly damaging |
Het |
| Cdk5r2 |
T |
C |
1: 74,895,059 (GRCm39) |
L268P |
probably damaging |
Het |
| Cfap251 |
C |
G |
5: 123,421,411 (GRCm39) |
|
probably null |
Het |
| Clrn2 |
A |
G |
5: 45,611,304 (GRCm39) |
D51G |
probably benign |
Het |
| Cntd1 |
T |
C |
11: 101,175,682 (GRCm39) |
S174P |
probably damaging |
Het |
| Col11a2 |
A |
G |
17: 34,258,651 (GRCm39) |
H8R |
probably benign |
Het |
| Col17a1 |
C |
T |
19: 47,669,816 (GRCm39) |
|
probably null |
Het |
| Cyp2a5 |
A |
G |
7: 26,536,528 (GRCm39) |
D169G |
possibly damaging |
Het |
| Cyp2c37 |
A |
G |
19: 39,984,303 (GRCm39) |
I264V |
possibly damaging |
Het |
| Cyp2j12 |
A |
G |
4: 96,021,315 (GRCm39) |
I97T |
probably damaging |
Het |
| Dipk1b |
T |
C |
2: 26,525,162 (GRCm39) |
L157P |
probably damaging |
Het |
| Eif3b |
T |
C |
5: 140,413,258 (GRCm39) |
F354L |
possibly damaging |
Het |
| Eif4a3l1 |
A |
T |
6: 136,305,559 (GRCm39) |
M7L |
probably benign |
Het |
| Entpd2 |
C |
T |
2: 25,288,099 (GRCm39) |
P108S |
probably damaging |
Het |
| F5 |
T |
A |
1: 164,019,750 (GRCm39) |
S742T |
probably damaging |
Het |
| Fam187a |
A |
G |
11: 102,776,124 (GRCm39) |
|
probably benign |
Het |
| Fam43b |
G |
C |
4: 138,122,409 (GRCm39) |
R304G |
probably benign |
Het |
| Flnc |
G |
A |
6: 29,438,665 (GRCm39) |
W186* |
probably null |
Het |
| Fndc3b |
G |
T |
3: 27,494,309 (GRCm39) |
Q939K |
possibly damaging |
Het |
| Gja4 |
C |
A |
4: 127,206,623 (GRCm39) |
D47Y |
probably damaging |
Het |
| Gm11565 |
T |
G |
11: 99,805,844 (GRCm39) |
C79G |
possibly damaging |
Het |
| Gpbar1 |
T |
C |
1: 74,318,164 (GRCm39) |
F136L |
probably benign |
Het |
| Gsn |
G |
A |
2: 35,180,349 (GRCm39) |
G130E |
probably damaging |
Het |
| Hecw1 |
A |
T |
13: 14,490,723 (GRCm39) |
D756E |
probably benign |
Het |
| Hrc |
C |
A |
7: 44,986,105 (GRCm39) |
R419S |
possibly damaging |
Het |
| Inpp4a |
T |
A |
1: 37,416,777 (GRCm39) |
S433T |
probably damaging |
Het |
| Ism2 |
C |
A |
12: 87,326,848 (GRCm39) |
V320L |
possibly damaging |
Het |
| Krt8 |
G |
T |
15: 101,907,257 (GRCm39) |
D275E |
probably benign |
Het |
| Lgalsl2 |
A |
G |
7: 5,362,401 (GRCm39) |
M11V |
probably benign |
Het |
| Lyg2 |
A |
C |
1: 37,948,077 (GRCm39) |
N132K |
probably benign |
Het |
| Lyst |
G |
A |
13: 13,812,243 (GRCm39) |
R885Q |
probably benign |
Het |
| Marveld2 |
A |
G |
13: 100,748,978 (GRCm39) |
S34P |
probably benign |
Het |
| Mcc |
C |
A |
18: 44,608,203 (GRCm39) |
G355W |
probably damaging |
Het |
| Mllt6 |
T |
C |
11: 97,555,802 (GRCm39) |
V44A |
probably damaging |
Het |
| Mrgpra3 |
A |
T |
7: 47,239,842 (GRCm39) |
M28K |
probably benign |
Het |
| Ms4a15 |
A |
G |
19: 10,962,159 (GRCm39) |
C47R |
probably benign |
Het |
| Muc5ac |
A |
G |
7: 141,344,745 (GRCm39) |
N72S |
probably benign |
Het |
| Myo18b |
C |
T |
5: 113,022,529 (GRCm39) |
|
probably benign |
Het |
| Nat8f4 |
A |
T |
6: 85,878,207 (GRCm39) |
H105Q |
possibly damaging |
Het |
| Ncapd3 |
A |
G |
9: 26,967,368 (GRCm39) |
D568G |
probably benign |
Het |
| Nptx1 |
T |
G |
11: 119,434,142 (GRCm39) |
I315L |
probably benign |
Het |
| Nrap |
T |
C |
19: 56,310,394 (GRCm39) |
R1534G |
possibly damaging |
Het |
| Nwd2 |
C |
A |
5: 63,962,499 (GRCm39) |
N694K |
probably benign |
Het |
| Oas1c |
G |
A |
5: 120,941,082 (GRCm39) |
A35V |
probably null |
Het |
| Or2d3b |
A |
G |
7: 106,514,113 (GRCm39) |
K236R |
probably damaging |
Het |
| Or5bw2 |
A |
T |
7: 6,573,022 (GRCm39) |
I11F |
probably damaging |
Het |
| Or5p58 |
C |
T |
7: 107,694,402 (GRCm39) |
R125H |
possibly damaging |
Het |
| Or8d1b |
T |
C |
9: 38,887,296 (GRCm39) |
V108A |
probably benign |
Het |
| Pate8 |
C |
A |
9: 36,493,161 (GRCm39) |
V54L |
probably benign |
Het |
| Pde2a |
A |
T |
7: 101,133,774 (GRCm39) |
D85V |
probably damaging |
Het |
| Plaat5 |
C |
T |
19: 7,590,111 (GRCm39) |
R46C |
probably damaging |
Het |
| Polr1f |
A |
G |
12: 33,483,587 (GRCm39) |
H113R |
probably damaging |
Het |
| Prex1 |
C |
T |
2: 166,429,077 (GRCm39) |
V839I |
probably benign |
Het |
| Psmd3 |
T |
A |
11: 98,581,790 (GRCm39) |
M305K |
probably benign |
Het |
| Rbm20 |
T |
C |
19: 53,840,172 (GRCm39) |
S1054P |
probably benign |
Het |
| Rhox13 |
G |
C |
X: 37,210,221 (GRCm39) |
E19Q |
unknown |
Het |
| Ryr2 |
A |
G |
13: 11,753,102 (GRCm39) |
F1740L |
possibly damaging |
Het |
| Sox1 |
C |
A |
8: 12,446,927 (GRCm39) |
N189K |
possibly damaging |
Het |
| Spta1 |
C |
A |
1: 174,001,907 (GRCm39) |
S12R |
possibly damaging |
Het |
| Tigd4 |
T |
A |
3: 84,501,600 (GRCm39) |
N172K |
probably benign |
Het |
| Tmt1a |
A |
T |
15: 100,211,049 (GRCm39) |
I174F |
probably benign |
Het |
| Ttyh1 |
T |
C |
7: 4,131,183 (GRCm39) |
V218A |
probably damaging |
Het |
| Unc45b |
T |
A |
11: 82,808,625 (GRCm39) |
M237K |
probably benign |
Het |
| Vldlr |
A |
G |
19: 27,215,786 (GRCm39) |
D220G |
probably damaging |
Het |
| Vps13c |
A |
G |
9: 67,861,142 (GRCm39) |
N2891S |
probably benign |
Het |
| Wdr25 |
T |
A |
12: 108,864,100 (GRCm39) |
S82T |
possibly damaging |
Het |
| Wnk4 |
C |
A |
11: 101,165,861 (GRCm39) |
P796Q |
probably damaging |
Het |
| Xpo5 |
C |
T |
17: 46,551,822 (GRCm39) |
Q1050* |
probably null |
Het |
| Zc3h15 |
G |
A |
2: 83,487,360 (GRCm39) |
V60I |
probably benign |
Het |
| Zfp629 |
G |
A |
7: 127,210,963 (GRCm39) |
T282M |
probably damaging |
Het |
| Zscan22 |
T |
G |
7: 12,637,887 (GRCm39) |
V93G |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGCGACATTCCTGCACATG -3'
(R):5'- TGGTATCATTTTGAAGCACCTGATG -3'
Sequencing Primer
(F):5'- ACATGCGTGCACTTGCCAC -3'
(R):5'- GAAGCACCTGATGACCTTTAAG -3'
|
| Posted On |
2014-10-16 |
Incidental Mutation