Incidental Mutation 'R5685:Stard13'
| ID |
443275 |
| 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 # |
R5685 (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 150986592 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 188
(I188T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000144056
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000062015]
[ENSMUST00000110483]
[ENSMUST00000129088]
[ENSMUST00000202111]
[ENSMUST00000202365]
|
| AlphaFold |
Q923Q2 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000062015
AA Change: I306T
PolyPhen 2
Score 0.492 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000053232
Gene: ENSMUSG00000016128
AA Change: I306T
| 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 |
possibly damaging
Transcript: ENSMUST00000110483
AA Change: I306T
PolyPhen 2
Score 0.492 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000106109
Gene: ENSMUSG00000016128
AA Change: I306T
| 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 |
possibly damaging
Transcript: ENSMUST00000202111
AA Change: I188T
PolyPhen 2
Score 0.778 (Sensitivity: 0.85; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000144056
Gene: ENSMUSG00000016128
AA Change: I188T
| 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 |
probably benign
Transcript: ENSMUST00000202365
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000202385
|
| Coding Region Coverage |
- 1x: 99.6%
- 3x: 98.8%
- 10x: 97.0%
- 20x: 94.1%
|
| 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: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700028J19Rik |
T |
A |
7: 43,879,974 (GRCm39) |
|
probably benign |
Het |
| Abcb5 |
A |
T |
12: 118,896,348 (GRCm39) |
|
probably null |
Het |
| Abcg1 |
G |
T |
17: 31,317,260 (GRCm39) |
E191* |
probably null |
Het |
| Als2 |
A |
G |
1: 59,218,250 (GRCm39) |
Y1263H |
possibly damaging |
Het |
| Amer2 |
T |
A |
14: 60,617,026 (GRCm39) |
L281* |
probably null |
Het |
| Anxa6 |
T |
C |
11: 54,887,196 (GRCm39) |
N361D |
probably benign |
Het |
| Ap1g1 |
A |
T |
8: 110,564,415 (GRCm39) |
N320I |
probably damaging |
Het |
| Aqr |
T |
C |
2: 113,986,746 (GRCm39) |
D208G |
possibly damaging |
Het |
| Arnt2 |
T |
C |
7: 83,912,473 (GRCm39) |
T545A |
probably benign |
Het |
| Aspm |
G |
A |
1: 139,415,026 (GRCm39) |
V2701I |
probably benign |
Het |
| Atad2 |
A |
G |
15: 57,980,194 (GRCm39) |
V106A |
possibly damaging |
Het |
| Bbs2 |
A |
C |
8: 94,814,061 (GRCm39) |
F186V |
probably damaging |
Het |
| Catsperg2 |
G |
A |
7: 29,400,613 (GRCm39) |
P247L |
probably damaging |
Het |
| Cfap57 |
G |
T |
4: 118,426,656 (GRCm39) |
Q1098K |
probably benign |
Het |
| Cxcr6 |
A |
G |
9: 123,639,811 (GRCm39) |
T271A |
probably benign |
Het |
| Dock1 |
A |
G |
7: 134,374,091 (GRCm39) |
E579G |
probably benign |
Het |
| Frem3 |
A |
G |
8: 81,421,932 (GRCm39) |
T2111A |
probably damaging |
Het |
| Galnt1 |
A |
T |
18: 24,397,586 (GRCm39) |
D229V |
possibly damaging |
Het |
| Gbp2b |
A |
C |
3: 142,313,919 (GRCm39) |
M400L |
probably benign |
Het |
| Gm1123 |
T |
A |
9: 98,891,486 (GRCm39) |
|
probably null |
Het |
| Gtpbp6 |
T |
C |
5: 110,252,805 (GRCm39) |
H349R |
probably damaging |
Het |
| Hyal5 |
A |
G |
6: 24,876,691 (GRCm39) |
K188R |
probably benign |
Het |
| Insrr |
T |
C |
3: 87,707,803 (GRCm39) |
|
probably null |
Het |
| Kcnn1 |
A |
T |
8: 71,305,374 (GRCm39) |
C322S |
probably damaging |
Het |
| Kdelr1 |
GTCTA |
G |
7: 45,531,041 (GRCm39) |
|
probably null |
Het |
| Kif23 |
T |
C |
9: 61,852,691 (GRCm39) |
T8A |
probably benign |
Het |
| Lrrk2 |
A |
T |
15: 91,687,504 (GRCm39) |
R2198* |
probably null |
Het |
| Mcl1 |
T |
G |
3: 95,567,109 (GRCm39) |
D177E |
possibly damaging |
Het |
| Mrps11 |
A |
T |
7: 78,441,628 (GRCm39) |
T137S |
probably benign |
Het |
| Mtbp |
A |
G |
15: 55,426,168 (GRCm39) |
Y90C |
probably damaging |
Het |
| Nkpd1 |
C |
T |
7: 19,257,498 (GRCm39) |
Q276* |
probably null |
Het |
| Nxt1 |
G |
T |
2: 148,517,673 (GRCm39) |
W138L |
possibly damaging |
Het |
| Or5al1 |
T |
C |
2: 85,990,139 (GRCm39) |
T192A |
probably damaging |
Het |
| Or5h17 |
T |
A |
16: 58,820,709 (GRCm39) |
F220L |
probably benign |
Het |
| Or5t17 |
T |
A |
2: 86,832,621 (GRCm39) |
S103T |
probably benign |
Het |
| Osbpl7 |
C |
A |
11: 96,951,103 (GRCm39) |
P478H |
probably damaging |
Het |
| Phf8-ps |
T |
A |
17: 33,285,746 (GRCm39) |
H352L |
probably benign |
Het |
| Pitpna |
T |
A |
11: 75,511,095 (GRCm39) |
F222I |
probably damaging |
Het |
| Plekhh2 |
A |
T |
17: 84,877,310 (GRCm39) |
R552W |
probably damaging |
Het |
| Plxnb2 |
C |
T |
15: 89,051,235 (GRCm39) |
R328H |
probably damaging |
Het |
| Pmaip1 |
C |
T |
18: 66,594,055 (GRCm39) |
T65I |
probably benign |
Het |
| Ppil4 |
T |
G |
10: 7,674,186 (GRCm39) |
I110S |
probably damaging |
Het |
| Prpf38a |
A |
G |
4: 108,427,351 (GRCm39) |
|
probably null |
Het |
| Psme4 |
G |
A |
11: 30,759,837 (GRCm39) |
G320D |
probably damaging |
Het |
| Rab17 |
C |
A |
1: 90,886,679 (GRCm39) |
R191L |
probably benign |
Het |
| Rhag |
A |
T |
17: 41,142,222 (GRCm39) |
M222L |
possibly damaging |
Het |
| Rims2 |
A |
T |
15: 39,300,602 (GRCm39) |
H111L |
possibly damaging |
Het |
| Setx |
T |
C |
2: 29,061,292 (GRCm39) |
Y2234H |
probably damaging |
Het |
| Slc2a8 |
T |
C |
2: 32,871,801 (GRCm39) |
I51V |
possibly damaging |
Het |
| Slc34a1 |
T |
C |
13: 55,549,085 (GRCm39) |
|
probably null |
Het |
| Slf1 |
T |
C |
13: 77,231,598 (GRCm39) |
T594A |
possibly damaging |
Het |
| Sox6 |
A |
T |
7: 115,178,392 (GRCm39) |
|
probably null |
Het |
| Spata13 |
C |
T |
14: 60,928,652 (GRCm39) |
S70L |
probably benign |
Het |
| Stard9 |
A |
G |
2: 120,535,803 (GRCm39) |
D4020G |
probably damaging |
Het |
| Tdp1 |
A |
G |
12: 99,868,611 (GRCm39) |
K255R |
possibly damaging |
Het |
| Tns2 |
G |
T |
15: 102,015,538 (GRCm39) |
A124S |
probably benign |
Het |
| Top2b |
T |
A |
14: 16,413,666 (GRCm38) |
W1045R |
probably damaging |
Het |
| Trav12-2 |
T |
C |
14: 53,854,122 (GRCm39) |
V32A |
probably damaging |
Het |
| Vps13c |
G |
T |
9: 67,870,455 (GRCm39) |
R3198L |
possibly damaging |
Het |
| Wee1 |
TCCCC |
TCCC |
7: 109,723,776 (GRCm39) |
|
probably null |
Het |
| Zfp52 |
T |
A |
17: 21,782,013 (GRCm39) |
S620R |
probably benign |
Het |
| Zfp62 |
T |
A |
11: 49,107,044 (GRCm39) |
C378* |
probably null |
Het |
| Zfp638 |
C |
A |
6: 83,906,969 (GRCm39) |
P378H |
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 |
|
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'- ATCTGGTAATGCCGTCCCTG -3'
(R):5'- CAGTCTTTTCACCCCAAGAATG -3'
Sequencing Primer
(F):5'- ATCCAGGTCCTCCAGGTACATG -3'
(R):5'- GTCTTTTCACCCCAAGAATGAGAAAC -3'
|
| Posted On |
2016-11-09 |
Incidental Mutation