Incidental Mutation 'R7318:Stard13'
| ID |
565641 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Stard13
|
| Ensembl Gene |
ENSMUSG00000016128 |
| Gene Name |
StAR related lipid transfer domain containing 13 |
| Synonyms |
GT650, DLC2 |
| MMRRC Submission |
045414-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7318 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
150960975-151157301 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
G to A
at 150986038 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Stop codon
at position 491
(Q491*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000053232
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000062015]
[ENSMUST00000110483]
[ENSMUST00000129088]
[ENSMUST00000202111]
[ENSMUST00000202365]
|
| AlphaFold |
Q923Q2 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000062015
AA Change: Q491*
|
| SMART Domains |
Protein: ENSMUSP00000053232
Gene: ENSMUSG00000016128
AA Change: Q491*
| 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 null
Transcript: ENSMUST00000110483
AA Change: Q491*
|
| SMART Domains |
Protein: ENSMUSP00000106109
Gene: ENSMUSG00000016128
AA Change: Q491*
| 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 |
probably null
Transcript: ENSMUST00000202111
AA Change: Q373*
|
| SMART Domains |
Protein: ENSMUSP00000144056
Gene: ENSMUSG00000016128
AA Change: Q373*
| 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
|
| Meta Mutation Damage Score |
0.9755 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.6%
|
| Validation Efficiency |
100% (67/67) |
| 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: 66 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930433I11Rik |
T |
C |
7: 40,643,111 (GRCm39) |
L260S |
probably benign |
Het |
| 9130230L23Rik |
A |
T |
5: 66,145,771 (GRCm39) |
S113R |
unknown |
Het |
| Abcc5 |
G |
A |
16: 20,211,293 (GRCm39) |
P557S |
probably benign |
Het |
| Acad11 |
A |
G |
9: 103,958,466 (GRCm39) |
T245A |
probably damaging |
Het |
| Acap2 |
A |
G |
16: 30,946,155 (GRCm39) |
F263L |
probably damaging |
Het |
| Ankle2 |
A |
T |
5: 110,385,632 (GRCm39) |
N327I |
probably benign |
Het |
| Appl1 |
T |
C |
14: 26,685,617 (GRCm39) |
E67G |
probably benign |
Het |
| Arfgef3 |
A |
T |
10: 18,506,211 (GRCm39) |
C864S |
possibly damaging |
Het |
| Arhgap20 |
A |
G |
9: 51,751,802 (GRCm39) |
I418V |
probably benign |
Het |
| Arhgef2 |
A |
T |
3: 88,539,610 (GRCm39) |
N102Y |
probably damaging |
Het |
| Car9 |
G |
T |
4: 43,513,089 (GRCm39) |
E431D |
probably damaging |
Het |
| Cbfa2t2 |
T |
C |
2: 154,342,374 (GRCm39) |
I30T |
probably benign |
Het |
| Cd40 |
A |
T |
2: 164,904,255 (GRCm39) |
D34V |
possibly damaging |
Het |
| Chrnb2 |
T |
A |
3: 89,670,674 (GRCm39) |
|
probably null |
Het |
| Chsy1 |
T |
G |
7: 65,759,977 (GRCm39) |
|
probably null |
Het |
| Cpne6 |
A |
G |
14: 55,751,751 (GRCm39) |
T245A |
possibly damaging |
Het |
| Cpsf1 |
T |
A |
15: 76,481,475 (GRCm39) |
K1159* |
probably null |
Het |
| Crisp1 |
T |
A |
17: 40,618,668 (GRCm39) |
E64D |
possibly damaging |
Het |
| D3Ertd751e |
A |
G |
3: 41,756,986 (GRCm39) |
|
probably null |
Het |
| Dennd11 |
A |
G |
6: 40,386,098 (GRCm39) |
V333A |
possibly damaging |
Het |
| Dnah7b |
T |
A |
1: 46,234,532 (GRCm39) |
L1488Q |
probably damaging |
Het |
| Dnm2 |
G |
A |
9: 21,416,863 (GRCm39) |
G799R |
possibly damaging |
Het |
| Elp2 |
G |
A |
18: 24,739,956 (GRCm39) |
V61I |
probably damaging |
Het |
| Epb41l3 |
T |
C |
17: 69,573,135 (GRCm39) |
L388P |
|
Het |
| Fry |
A |
T |
5: 150,360,458 (GRCm39) |
S2035C |
probably damaging |
Het |
| Gas8 |
T |
C |
8: 124,257,707 (GRCm39) |
F385L |
probably benign |
Het |
| Ghsr |
T |
C |
3: 27,426,616 (GRCm39) |
V224A |
possibly damaging |
Het |
| Gstp2 |
T |
A |
19: 4,091,065 (GRCm39) |
R85W |
probably benign |
Het |
| Ighv1-20 |
T |
A |
12: 114,687,810 (GRCm39) |
I6F |
possibly damaging |
Het |
| Inpp4b |
T |
A |
8: 82,798,374 (GRCm39) |
M854K |
probably damaging |
Het |
| Kif15 |
A |
G |
9: 122,817,014 (GRCm39) |
E538G |
probably damaging |
Het |
| Large2 |
T |
C |
2: 92,196,373 (GRCm39) |
T485A |
probably benign |
Het |
| Lmo3 |
T |
A |
6: 138,398,363 (GRCm39) |
|
probably benign |
Het |
| Lyg1 |
G |
A |
1: 37,988,936 (GRCm39) |
P95S |
probably benign |
Het |
| Lyst |
A |
G |
13: 13,932,028 (GRCm39) |
H3552R |
probably benign |
Het |
| Mtif2 |
C |
T |
11: 29,490,115 (GRCm39) |
S385L |
probably benign |
Het |
| Muc4 |
A |
T |
16: 32,575,710 (GRCm39) |
I1737F |
unknown |
Het |
| Mug1 |
T |
C |
6: 121,847,611 (GRCm39) |
|
probably null |
Het |
| Mx1 |
G |
T |
16: 97,253,286 (GRCm39) |
Q350K |
probably benign |
Het |
| Mylk3 |
G |
T |
8: 86,085,726 (GRCm39) |
D269E |
probably benign |
Het |
| Myo3a |
A |
T |
2: 22,448,332 (GRCm39) |
K974* |
probably null |
Het |
| Nectin4 |
G |
T |
1: 171,208,031 (GRCm39) |
R141L |
probably benign |
Het |
| Nlgn2 |
T |
C |
11: 69,716,795 (GRCm39) |
H582R |
probably damaging |
Het |
| Or51ab3 |
T |
A |
7: 103,201,298 (GRCm39) |
M102K |
probably damaging |
Het |
| Or51e1 |
T |
A |
7: 102,359,226 (GRCm39) |
Y253* |
probably null |
Het |
| Pi16 |
C |
A |
17: 29,538,208 (GRCm39) |
P7Q |
possibly damaging |
Het |
| Psmd11 |
C |
A |
11: 80,347,128 (GRCm39) |
L171I |
probably benign |
Het |
| Rad54l |
A |
G |
4: 115,967,906 (GRCm39) |
V152A |
possibly damaging |
Het |
| Ranbp2 |
T |
A |
10: 58,318,909 (GRCm39) |
Y2473* |
probably null |
Het |
| Sertad1 |
T |
C |
7: 27,188,910 (GRCm39) |
I77T |
possibly damaging |
Het |
| Sesn3 |
A |
T |
9: 14,219,873 (GRCm39) |
E87D |
probably damaging |
Het |
| Slc30a5 |
A |
T |
13: 100,950,477 (GRCm39) |
S260R |
probably benign |
Het |
| Slc6a12 |
G |
A |
6: 121,328,972 (GRCm39) |
G111S |
probably damaging |
Het |
| Slc6a12 |
T |
C |
6: 121,328,978 (GRCm39) |
Y113H |
probably benign |
Het |
| Spag17 |
T |
G |
3: 99,847,299 (GRCm39) |
M76R |
probably benign |
Het |
| Spata31f3 |
TCATTCAACACTTTGGAGAGCTCTGAACTCTGGCCATTCAACACTTTGGAGAGCTCTGAACTCTGGCCATTCAACACTTTGGAGAGCTCTGAACTCTGGTCATTCAACACTTTGG |
TCATTCAACACTTTGGAGAGCTCTGAACTCTGGCCATTCAACACTTTGGAGAGCTCTGAACTCTGGTCATTCAACACTTTGG |
4: 42,871,823 (GRCm39) |
|
probably benign |
Het |
| Synpo2 |
T |
C |
3: 122,910,968 (GRCm39) |
S226G |
probably benign |
Het |
| Tada2b |
G |
A |
5: 36,641,331 (GRCm39) |
T24I |
probably benign |
Het |
| Tafa1 |
T |
C |
6: 96,092,737 (GRCm39) |
|
probably null |
Het |
| Tmem51 |
TCCCC |
TCCC |
4: 141,764,996 (GRCm39) |
|
probably null |
Het |
| Tnnt1 |
T |
A |
7: 4,513,547 (GRCm39) |
|
probably null |
Het |
| Usp17lb |
T |
C |
7: 104,490,340 (GRCm39) |
I196V |
probably benign |
Het |
| Utp20 |
T |
A |
10: 88,649,811 (GRCm39) |
K466N |
possibly damaging |
Het |
| Wdr46 |
T |
C |
17: 34,160,859 (GRCm39) |
|
probably null |
Het |
| Zfp287 |
T |
A |
11: 62,605,104 (GRCm39) |
Q601L |
probably damaging |
Het |
| Zfp410 |
T |
C |
12: 84,372,464 (GRCm39) |
S97P |
probably benign |
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 |
|
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'- TGGCCTCCGATTCATTCAGAG -3'
(R):5'- AGTATCTCCCTGGGTAGGCAAC -3'
Sequencing Primer
(F):5'- CCGATTCATTCAGAGAAGTCCTG -3'
(R):5'- CTGGGTAGGCAACAGGGC -3'
|
| Posted On |
2019-06-26 |
Incidental Mutation