Incidental Mutation 'R7809:Stard13'
| ID |
601005 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Stard13
|
| Ensembl Gene |
ENSMUSG00000016128 |
| Gene Name |
StAR related lipid transfer domain containing 13 |
| Synonyms |
GT650, DLC2 |
| MMRRC Submission |
045864-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7809 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
150960975-151157301 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 151113489 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Leucine
at position 24
(Q24L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000053232
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000062015]
[ENSMUST00000110483]
[ENSMUST00000126770]
[ENSMUST00000129088]
[ENSMUST00000202365]
|
| AlphaFold |
Q923Q2 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000062015
AA Change: Q24L
PolyPhen 2
Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000053232
Gene: ENSMUSG00000016128
AA Change: Q24L
| 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: Q24L
PolyPhen 2
Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000106109
Gene: ENSMUSG00000016128
AA Change: Q24L
| 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: ENSMUST00000126770
|
| SMART Domains |
Protein: ENSMUSP00000122468
Gene: ENSMUSG00000016128
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:SAM_2
|
44 |
105 |
7.6e-8 |
PFAM |
|
| 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 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: 64 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acot13 |
G |
A |
13: 25,004,779 (GRCm39) |
T62I |
probably damaging |
Het |
| Adam33 |
C |
G |
2: 130,893,266 (GRCm39) |
R779P |
probably benign |
Het |
| Adgrv1 |
G |
A |
13: 81,676,760 (GRCm39) |
P2024S |
possibly damaging |
Het |
| Afm |
A |
G |
5: 90,672,675 (GRCm39) |
N170S |
probably damaging |
Het |
| Ambn |
G |
A |
5: 88,615,683 (GRCm39) |
V371I |
probably benign |
Het |
| Apbb1 |
G |
A |
7: 105,223,014 (GRCm39) |
P199L |
probably benign |
Het |
| Axdnd1 |
A |
T |
1: 156,220,371 (GRCm39) |
C118* |
probably null |
Het |
| Carf |
G |
T |
1: 60,183,226 (GRCm39) |
V443L |
probably damaging |
Het |
| Cfap251 |
A |
G |
5: 123,402,894 (GRCm39) |
D459G |
probably damaging |
Het |
| Ckap5 |
G |
A |
2: 91,436,702 (GRCm39) |
A1601T |
probably benign |
Het |
| Cnot1 |
A |
T |
8: 96,478,406 (GRCm39) |
I973N |
probably damaging |
Het |
| Col11a1 |
A |
G |
3: 113,890,835 (GRCm39) |
T391A |
unknown |
Het |
| Cracr2a |
A |
T |
6: 127,626,925 (GRCm39) |
M569L |
probably benign |
Het |
| Cspg4 |
T |
C |
9: 56,797,474 (GRCm39) |
F1313L |
probably damaging |
Het |
| Cstdc2 |
A |
G |
2: 148,688,910 (GRCm39) |
S110P |
probably damaging |
Het |
| Cttnbp2 |
C |
A |
6: 18,434,289 (GRCm39) |
R523L |
probably damaging |
Het |
| Cxadr |
T |
C |
16: 78,130,407 (GRCm39) |
|
probably null |
Het |
| Dnah17 |
A |
T |
11: 117,995,462 (GRCm39) |
M962K |
probably benign |
Het |
| Dnm1 |
T |
C |
2: 32,243,091 (GRCm39) |
K44R |
probably damaging |
Het |
| Fat3 |
T |
C |
9: 15,917,924 (GRCm39) |
S1500G |
probably damaging |
Het |
| Gad1 |
T |
C |
2: 70,427,603 (GRCm39) |
F503S |
possibly damaging |
Het |
| Garin3 |
A |
G |
11: 46,298,631 (GRCm39) |
E645G |
|
Het |
| Gm20730 |
T |
C |
6: 43,058,989 (GRCm39) |
I15V |
probably benign |
Het |
| Gmppb |
T |
G |
9: 107,928,654 (GRCm39) |
*361G |
probably null |
Het |
| Inpp5f |
T |
C |
7: 128,269,367 (GRCm39) |
V239A |
probably damaging |
Het |
| Irf4 |
A |
T |
13: 30,941,415 (GRCm39) |
Y257F |
probably benign |
Het |
| Kcnma1 |
T |
C |
14: 23,423,324 (GRCm39) |
D793G |
probably benign |
Het |
| Kif11 |
T |
C |
19: 37,373,057 (GRCm39) |
V92A |
probably damaging |
Het |
| Lrriq1 |
T |
C |
10: 103,051,678 (GRCm39) |
K358R |
probably damaging |
Het |
| Mcpt4 |
T |
A |
14: 56,298,141 (GRCm39) |
I137F |
possibly damaging |
Het |
| Muc6 |
T |
A |
7: 141,226,638 (GRCm39) |
H1358L |
probably benign |
Het |
| Mug1 |
A |
T |
6: 121,855,944 (GRCm39) |
M979L |
possibly damaging |
Het |
| Mvb12a |
C |
A |
8: 71,998,306 (GRCm39) |
P175T |
probably benign |
Het |
| Myh13 |
A |
G |
11: 67,241,167 (GRCm39) |
E848G |
probably benign |
Het |
| Or4c105 |
A |
T |
2: 88,647,902 (GRCm39) |
H129L |
probably damaging |
Het |
| Oxnad1 |
T |
C |
14: 31,822,962 (GRCm39) |
V231A |
probably benign |
Het |
| Pcdhac1 |
A |
G |
18: 37,224,009 (GRCm39) |
N274S |
possibly damaging |
Het |
| Plxnc1 |
T |
A |
10: 94,630,302 (GRCm39) |
K1532N |
probably damaging |
Het |
| Polr3e |
A |
G |
7: 120,523,449 (GRCm39) |
D14G |
probably damaging |
Het |
| Prex1 |
A |
G |
2: 166,415,164 (GRCm39) |
F1432S |
possibly damaging |
Het |
| Prlhr |
A |
G |
19: 60,456,293 (GRCm39) |
L91P |
probably damaging |
Het |
| Prom1 |
C |
T |
5: 44,178,209 (GRCm39) |
V508I |
probably benign |
Het |
| Rmnd1 |
T |
C |
10: 4,357,848 (GRCm39) |
Y387C |
probably damaging |
Het |
| Sall3 |
T |
A |
18: 81,017,575 (GRCm39) |
T118S |
probably benign |
Het |
| Sf3b1 |
A |
T |
1: 55,034,614 (GRCm39) |
D1015E |
possibly damaging |
Het |
| Sfmbt2 |
A |
G |
2: 10,398,155 (GRCm39) |
N12S |
probably benign |
Het |
| Sohlh1 |
A |
C |
2: 25,735,289 (GRCm39) |
S198A |
probably benign |
Het |
| Sorbs2 |
T |
C |
8: 46,198,465 (GRCm39) |
S38P |
possibly damaging |
Het |
| Spata21 |
G |
A |
4: 140,831,354 (GRCm39) |
A434T |
probably null |
Het |
| Syne2 |
G |
T |
12: 76,014,230 (GRCm39) |
M3140I |
probably benign |
Het |
| Tango6 |
T |
C |
8: 107,415,926 (GRCm39) |
|
probably null |
Het |
| Tdrd9 |
G |
A |
12: 111,999,155 (GRCm39) |
G757R |
probably damaging |
Het |
| Thada |
A |
C |
17: 84,759,265 (GRCm39) |
V198G |
possibly damaging |
Het |
| Tmf1 |
T |
C |
6: 97,138,420 (GRCm39) |
N833D |
probably damaging |
Het |
| Trav7-3 |
T |
C |
14: 53,681,072 (GRCm39) |
M38T |
probably benign |
Het |
| Ttc38 |
A |
C |
15: 85,722,939 (GRCm39) |
Q129P |
possibly damaging |
Het |
| Uox |
A |
T |
3: 146,333,613 (GRCm39) |
K271* |
probably null |
Het |
| Urgcp |
A |
T |
11: 5,673,133 (GRCm39) |
D47E |
probably benign |
Het |
| Usp17lb |
A |
G |
7: 104,490,420 (GRCm39) |
I169T |
probably damaging |
Het |
| Wdr75 |
T |
C |
1: 45,862,596 (GRCm39) |
I805T |
probably benign |
Het |
| Zfp131 |
A |
G |
13: 120,250,446 (GRCm39) |
F59S |
probably damaging |
Het |
| Zfp383 |
G |
A |
7: 29,609,661 (GRCm39) |
A21T |
possibly damaging |
Het |
| Zfp810 |
T |
C |
9: 22,190,278 (GRCm39) |
Y210C |
possibly damaging |
Het |
| Zfp871 |
A |
G |
17: 32,993,826 (GRCm39) |
C450R |
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 |
|
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 |
|
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'- CAGACTGCTTAGAACCGAAGTC -3'
(R):5'- AAAATCGCTGGGTCTGTGGC -3'
Sequencing Primer
(F):5'- GTTATCTGAAAGAGTTCCACGCAGC -3'
(R):5'- GGGTCTGTGGCTCTCTCC -3'
|
| Posted On |
2019-11-26 |
Incidental Mutation