Incidental Mutation 'R6171:Stard13'
| ID |
490431 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Stard13
|
| Ensembl Gene |
ENSMUSG00000016128 |
| Gene Name |
StAR related lipid transfer domain containing 13 |
| Synonyms |
GT650, DLC2 |
| MMRRC Submission |
044314-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6171 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
150960975-151157301 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 151016227 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glutamic Acid
at position 88
(V88E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000116705
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000062015]
[ENSMUST00000110483]
[ENSMUST00000126770]
[ENSMUST00000129088]
[ENSMUST00000202365]
[ENSMUST00000202111]
|
| AlphaFold |
Q923Q2 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000062015
AA Change: V103E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000053232
Gene: ENSMUSG00000016128
AA Change: V103E
| 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: V103E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000106109
Gene: ENSMUSG00000016128
AA Change: V103E
| 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: ENSMUST00000126770
AA Change: V88E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000122468
Gene: ENSMUSG00000016128
AA Change: V88E
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:SAM_2
|
44 |
105 |
7.6e-8 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000129088
AA Change: V88E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000116705
Gene: ENSMUSG00000016128
AA Change: V88E
| 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: ENSMUST00000146814
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000201680
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000202866
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000202385
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000202365
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000202111
|
| SMART Domains |
Protein: ENSMUSP00000144056
Gene: ENSMUSG00000016128
| 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 |
|
| Meta Mutation Damage Score |
0.8854 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.1%
- 20x: 94.4%
|
| Validation Efficiency |
100% (47/47) |
| 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: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adprs |
A |
G |
4: 126,211,110 (GRCm39) |
V269A |
probably damaging |
Het |
| Atp11a |
T |
A |
8: 12,882,663 (GRCm39) |
V517D |
probably damaging |
Het |
| Atr |
C |
T |
9: 95,763,324 (GRCm39) |
Q1073* |
probably null |
Het |
| C87436 |
A |
C |
6: 86,422,449 (GRCm39) |
T8P |
probably benign |
Het |
| Clasrp |
T |
C |
7: 19,318,747 (GRCm39) |
|
probably benign |
Het |
| Creb3l1 |
G |
T |
2: 91,821,614 (GRCm39) |
Q254K |
probably damaging |
Het |
| Dapl1 |
C |
A |
2: 59,326,946 (GRCm39) |
T64K |
probably benign |
Het |
| Dnah2 |
A |
T |
11: 69,313,868 (GRCm39) |
L4168Q |
probably damaging |
Het |
| Dnttip2 |
T |
A |
3: 122,072,511 (GRCm39) |
I597N |
probably damaging |
Het |
| Dyrk1b |
A |
T |
7: 27,885,975 (GRCm39) |
|
probably null |
Het |
| Elk3 |
G |
T |
10: 93,085,906 (GRCm39) |
P132Q |
probably damaging |
Het |
| Galt |
C |
T |
4: 41,757,541 (GRCm39) |
P238S |
probably damaging |
Het |
| Gm10322 |
T |
C |
10: 59,452,084 (GRCm39) |
V67A |
possibly damaging |
Het |
| Ice1 |
T |
C |
13: 70,754,850 (GRCm39) |
Y412C |
probably benign |
Het |
| Kcna1 |
A |
T |
6: 126,619,286 (GRCm39) |
Y345N |
probably damaging |
Het |
| Kif1b |
T |
C |
4: 149,342,505 (GRCm39) |
Y419C |
probably damaging |
Het |
| Klf15 |
G |
T |
6: 90,443,601 (GRCm39) |
A59S |
possibly damaging |
Het |
| Mettl17 |
T |
A |
14: 52,126,236 (GRCm39) |
Y162N |
probably damaging |
Het |
| Myh10 |
G |
A |
11: 68,682,716 (GRCm39) |
R1050Q |
probably damaging |
Het |
| Nek4 |
T |
C |
14: 30,692,304 (GRCm39) |
V376A |
probably benign |
Het |
| Nemp1 |
T |
A |
10: 127,525,319 (GRCm39) |
|
probably null |
Het |
| Nlrp9a |
T |
C |
7: 26,258,188 (GRCm39) |
I602T |
possibly damaging |
Het |
| Nphp4 |
T |
C |
4: 152,628,906 (GRCm39) |
V764A |
probably damaging |
Het |
| Or12e1 |
T |
A |
2: 87,022,709 (GRCm39) |
V226E |
possibly damaging |
Het |
| Or8c17 |
C |
T |
9: 38,179,898 (GRCm39) |
Q22* |
probably null |
Het |
| Osbp2 |
A |
T |
11: 3,667,221 (GRCm39) |
|
probably null |
Het |
| Pax2 |
A |
G |
19: 44,779,179 (GRCm39) |
Y185C |
probably damaging |
Het |
| Pdyn |
A |
T |
2: 129,530,268 (GRCm39) |
S134T |
possibly damaging |
Het |
| Peg10 |
GAT |
GATCAT |
6: 4,756,449 (GRCm39) |
|
probably benign |
Het |
| Ppp1r13l |
A |
G |
7: 19,111,436 (GRCm39) |
M754V |
probably benign |
Het |
| Prr23a3 |
T |
A |
9: 98,747,731 (GRCm39) |
N228K |
probably benign |
Het |
| Psmd12 |
T |
C |
11: 107,382,733 (GRCm39) |
F213L |
probably damaging |
Het |
| Qser1 |
A |
T |
2: 104,619,628 (GRCm39) |
S395T |
probably damaging |
Het |
| Rab7b |
A |
G |
1: 131,626,372 (GRCm39) |
|
probably null |
Het |
| Rev3l |
T |
A |
10: 39,738,709 (GRCm39) |
L2821* |
probably null |
Het |
| Rplp0 |
A |
G |
5: 115,699,219 (GRCm39) |
N127S |
probably benign |
Het |
| Serpina9 |
G |
T |
12: 103,974,678 (GRCm39) |
Y158* |
probably null |
Het |
| Sis |
G |
A |
3: 72,868,360 (GRCm39) |
T110M |
possibly damaging |
Het |
| Slc43a2 |
A |
G |
11: 75,453,876 (GRCm39) |
Y263C |
probably damaging |
Het |
| Sp110 |
A |
C |
1: 85,505,050 (GRCm39) |
F434C |
probably benign |
Het |
| Trim29 |
G |
A |
9: 43,230,674 (GRCm39) |
E286K |
probably damaging |
Het |
| Vmn2r24 |
T |
C |
6: 123,764,205 (GRCm39) |
S361P |
probably damaging |
Het |
| Wnk2 |
T |
C |
13: 49,214,308 (GRCm39) |
T18A |
probably damaging |
Het |
| Xylb |
C |
T |
9: 119,210,657 (GRCm39) |
T380M |
probably damaging |
Het |
| Zbtb5 |
T |
C |
4: 44,994,119 (GRCm39) |
T422A |
probably benign |
Het |
| Zhx2 |
A |
G |
15: 57,686,602 (GRCm39) |
E657G |
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 |
|
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'- TCCTAATCTAATGTCTGAAGTGCC -3'
(R):5'- GCTGTCAGCAATAACAATAAGCAG -3'
Sequencing Primer
(F):5'- CCCCCAAGTCCCTGTTTAAG -3'
(R):5'- GCAATAACAATAAGCAGTAACTGTG -3'
|
| Posted On |
2017-10-10 |
Incidental Mutation