Incidental Mutation 'R8946:Stard13'
| ID |
681290 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Stard13
|
| Ensembl Gene |
ENSMUSG00000016128 |
| Gene Name |
StAR related lipid transfer domain containing 13 |
| Synonyms |
GT650, DLC2 |
| MMRRC Submission |
068784-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8946 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
150960975-151157301 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 150984267 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Histidine
at position 623
(R623H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000053232
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000062015]
[ENSMUST00000110483]
[ENSMUST00000129088]
[ENSMUST00000202111]
[ENSMUST00000202365]
|
| AlphaFold |
Q923Q2 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000062015
AA Change: R623H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000053232
Gene: ENSMUSG00000016128
AA Change: R623H
| 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 |
|
| SMART Domains |
Protein: ENSMUSP00000106109
Gene: ENSMUSG00000016128
AA Change: R623H
| 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 damaging
Transcript: ENSMUST00000202111
AA Change: R505H
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000144056
Gene: ENSMUSG00000016128
AA Change: R505H
| 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
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.4%
|
| Validation Efficiency |
97% (65/67) |
| 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 |
|---|
| Akap12 |
A |
G |
10: 4,304,368 (GRCm39) |
S393G |
probably damaging |
Het |
| Ankrd28 |
A |
G |
14: 31,430,083 (GRCm39) |
F862L |
probably damaging |
Het |
| Ankrd31 |
T |
C |
13: 97,046,037 (GRCm39) |
*1546Q |
probably null |
Het |
| Ankrd33b |
T |
C |
15: 31,297,894 (GRCm39) |
T288A |
probably benign |
Het |
| Aox1 |
T |
C |
1: 58,145,227 (GRCm39) |
I1331T |
possibly damaging |
Het |
| Atp13a5 |
A |
G |
16: 29,146,601 (GRCm39) |
L231P |
probably damaging |
Het |
| C1qtnf12 |
T |
C |
4: 156,050,882 (GRCm39) |
F284L |
probably damaging |
Het |
| Caprin1 |
A |
T |
2: 103,608,378 (GRCm39) |
H250Q |
probably damaging |
Het |
| Cd2bp2 |
A |
C |
7: 126,793,923 (GRCm39) |
I122S |
probably damaging |
Het |
| Cd300lf |
T |
A |
11: 115,024,738 (GRCm39) |
|
probably benign |
Het |
| Ceacam14 |
A |
G |
7: 17,547,999 (GRCm39) |
I30V |
probably benign |
Het |
| Chchd1 |
T |
A |
14: 20,753,385 (GRCm39) |
*56R |
probably null |
Het |
| Ckap5 |
A |
G |
2: 91,409,861 (GRCm39) |
T948A |
probably benign |
Het |
| Clec12a |
A |
T |
6: 129,340,949 (GRCm39) |
N243I |
possibly damaging |
Het |
| Col11a2 |
A |
G |
17: 34,270,757 (GRCm39) |
M462V |
probably benign |
Het |
| Col6a5 |
C |
T |
9: 105,822,833 (GRCm39) |
E175K |
unknown |
Het |
| Csnka2ip |
T |
C |
16: 64,300,667 (GRCm39) |
|
probably benign |
Het |
| D130040H23Rik |
C |
A |
8: 69,755,033 (GRCm39) |
T146N |
possibly damaging |
Het |
| Dennd5b |
T |
C |
6: 148,943,485 (GRCm39) |
|
probably benign |
Het |
| Fanci |
A |
G |
7: 79,045,726 (GRCm39) |
T23A |
probably benign |
Het |
| Fmnl1 |
T |
C |
11: 103,071,741 (GRCm39) |
Y83H |
probably damaging |
Het |
| Galnt13 |
C |
A |
2: 54,770,075 (GRCm39) |
T289N |
probably benign |
Het |
| Gcn1 |
A |
G |
5: 115,733,404 (GRCm39) |
D1074G |
probably benign |
Het |
| Gm10801 |
ATTTTCAGTTTTCTTGCCATATTCCACGTCCTGCACTGGACATTTCTAAATTTTCCACCTTTTTCAGTTTTC |
ATTTTCAGTTTTC |
2: 98,492,669 (GRCm39) |
|
probably null |
Het |
| Gnl1 |
T |
C |
17: 36,294,479 (GRCm39) |
I366T |
probably benign |
Het |
| Gtf2ird2 |
A |
T |
5: 134,245,161 (GRCm39) |
Y473F |
probably damaging |
Het |
| Ikzf1 |
T |
A |
11: 11,719,485 (GRCm39) |
D397E |
possibly damaging |
Het |
| Ints15 |
C |
G |
5: 143,300,795 (GRCm39) |
E19Q |
probably benign |
Het |
| Intu |
C |
T |
3: 40,637,789 (GRCm39) |
A425V |
possibly damaging |
Het |
| Irag1 |
A |
T |
7: 110,477,347 (GRCm39) |
|
probably null |
Het |
| Jakmip1 |
G |
A |
5: 37,343,084 (GRCm39) |
|
probably null |
Het |
| Lif |
C |
A |
11: 4,219,225 (GRCm39) |
P168Q |
possibly damaging |
Het |
| Myh11 |
A |
C |
16: 14,048,580 (GRCm39) |
S576A |
probably benign |
Het |
| Neb |
A |
G |
2: 52,041,425 (GRCm39) |
V6559A |
probably damaging |
Het |
| Nphs1 |
A |
G |
7: 30,162,625 (GRCm39) |
N368S |
probably damaging |
Het |
| Npsr1 |
G |
A |
9: 24,224,525 (GRCm39) |
V148I |
probably benign |
Het |
| Or51f1 |
C |
A |
7: 102,505,725 (GRCm39) |
G255* |
probably null |
Het |
| Or52ab4 |
T |
C |
7: 102,987,573 (GRCm39) |
F104S |
probably damaging |
Het |
| Or56a5 |
T |
A |
7: 104,792,832 (GRCm39) |
I223F |
probably damaging |
Het |
| Or5b111 |
A |
T |
19: 13,291,502 (GRCm39) |
L49Q |
probably damaging |
Het |
| Or7e166 |
C |
T |
9: 19,624,885 (GRCm39) |
T254I |
probably damaging |
Het |
| Patz1 |
T |
C |
11: 3,241,856 (GRCm39) |
C415R |
probably damaging |
Het |
| Pcdha9 |
A |
T |
18: 37,131,546 (GRCm39) |
N205I |
possibly damaging |
Het |
| Pcdhga12 |
A |
T |
18: 37,899,711 (GRCm39) |
E181V |
probably benign |
Het |
| Pcnx1 |
T |
C |
12: 82,018,158 (GRCm39) |
Y1333H |
probably damaging |
Het |
| Phf7 |
A |
T |
14: 30,970,106 (GRCm39) |
|
probably benign |
Het |
| Pomc |
T |
G |
12: 4,010,298 (GRCm39) |
S180A |
probably benign |
Het |
| Ppp1r7 |
T |
A |
1: 93,288,536 (GRCm39) |
|
probably null |
Het |
| Prrc2c |
A |
T |
1: 162,536,478 (GRCm39) |
|
probably benign |
Het |
| Rsf1 |
GGC |
GGCCACGGCCGC |
7: 97,229,113 (GRCm39) |
|
probably benign |
Het |
| Semp2l1 |
C |
T |
1: 32,585,685 (GRCm39) |
R75Q |
probably benign |
Het |
| Senp1 |
T |
C |
15: 97,940,782 (GRCm39) |
K664E |
probably damaging |
Het |
| Skint7 |
A |
G |
4: 111,839,198 (GRCm39) |
N164S |
possibly damaging |
Het |
| Smg1 |
C |
A |
7: 117,751,900 (GRCm39) |
R2775M |
probably null |
Het |
| Snrnp27 |
C |
T |
6: 86,653,226 (GRCm39) |
V131M |
probably damaging |
Het |
| Spire1 |
C |
A |
18: 67,629,686 (GRCm39) |
R357L |
probably damaging |
Het |
| Sspo |
G |
A |
6: 48,434,071 (GRCm39) |
V959I |
probably damaging |
Het |
| St6galnac2 |
T |
C |
11: 116,568,458 (GRCm39) |
H335R |
probably damaging |
Het |
| Syde1 |
T |
A |
10: 78,424,683 (GRCm39) |
E383V |
probably damaging |
Het |
| Taf10 |
A |
G |
7: 105,393,524 (GRCm39) |
M1T |
probably null |
Het |
| Traf3ip3 |
A |
G |
1: 192,869,415 (GRCm39) |
C257R |
probably damaging |
Het |
| Trpm8 |
G |
A |
1: 88,276,061 (GRCm39) |
|
probably benign |
Het |
| Veph1 |
A |
G |
3: 66,171,301 (GRCm39) |
|
probably null |
Het |
| Vmn1r169 |
A |
T |
7: 23,276,640 (GRCm39) |
T11S |
possibly damaging |
Het |
| Wdhd1 |
A |
T |
14: 47,482,752 (GRCm39) |
S961T |
probably benign |
Het |
| Zfp773 |
T |
C |
7: 7,135,469 (GRCm39) |
T376A |
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 |
|
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 |
|
|
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'- TCCAGGAGAGGGTAGTTCAGAC -3'
(R):5'- TGGCTCAGAAACTCCTAAAGTAGC -3'
Sequencing Primer
(F):5'- AGGGTAGTTCAGACAGTGCTCC -3'
(R):5'- ACCTAAAGGCTAGCTTGAGCTTC -3'
|
| Posted On |
2021-08-31 |
Incidental Mutation